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Genetics and Metabolism - Publications


 

Ahmed MM, Dhanasekaran AR, Tong S, Wiseman FK, Fisher EM, Tybulewicz VL, Gardiner KJ. Protein profiles in Tc1 mice implicate novel pathway perturbations in the Down syndrome brain. Hum Mol Genet. 2013 May 1;22(9):1709-24. [PMID: 23349361]

Basseri S, Lhotak S, Fullerton MD, Palanivel R, Jiang H, Lynn EG, Ford RJ, Maclean KN, Steinberg GR, Austin RC. Loss of TDAG51 results in mature-onset obesity, hepatic steatosis, and insulin resistance by regulating lipogenesis. Diabetes. 2013 Jan;62(1):158-69. [PMID: 22961087]

Bernstein LE, Helm JR, Rocha JC, Almeida MF, Feillet F, Link RM, Gizewska M. Nutrition education tools used in phenylketonuria: clinician, parent and patient perspectives from three international surveys. J Hum Nutr Diet. 2013 Apr 23. [PMID: 23607595]

Biggins SW, Trotter J, Gralla J, Burton JR Jr, Bambha KM, Dodge J, Brocato M, Cheng L, McQueen M, Forman L, Chang M, Kam I, Everson G, Spritz RA, Klintmalm G, Rosen HR. Differential effects of donor and recipient IL28B and DDX58 SNPs on severity of HCV after liver transplantation. J Hepatol. 2013 May;58(5):969-76. [PMID: 23333445]

Birlea SA, Ahmad FJ, Uddin RM, Ahmad S, Pal SS, Begum R, Laddha NC, Dwivedi M, Shoab Mansuri M, Jin Y, Gowan K, Riccardi SL, Holland PJ, Ben S, Fain PR, Spritz RA. Association of generalized vitiligo with MHC class II loci in patients from the Indian subcontinent. J Invest Dermatol . 2013 May;133(5):1369-72. [PMID: 23303446]

Cullup T, Kho AL, Dionisi-Vici C, Brandmeier B, Smith F, Urry Z, Simpson MA, Yau S, Bertini E, McClelland V, Al-Owain M, Koelker S, Koerner C, Hoffmann GF, Wijburg FA, ten Hoedt AE, Rogers RC, Manchester D, Miyata R, Hayashi M, Said E, Soler D, Kroisel PM, Windpassinger C, Filloux FM, Al-Kaabi S, Hertecant J, Del Campo M, Buk S, Bodi I, Goebel HH, Sewry CA, Abbs S, Mohammed S, Josifova D, Gautel M, Jungbluth H. Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet . 2013 Jan;45(1):83-7. [PMID: 23222957]

Delio M, Pope K, Wang T, Samanich J, Haldeman-Englert CR, Kaplan P, Shaikh TH, Cai J, Marion RW, Morrow BE, Babcock M. Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome. Am J Med Genet A. 2013 Mar;161A(3):527-33. [PMID: 23401415]

Ferrara TM, Jin Y, Gowan K, Fain PR, Spritz RA. Risk of generalized vitiligo is associated with the common 55R-94A-247H variant haplotype of GZMB (encoding granzyme B). J Invest Dermatol. 2013 Jun;133(6):1677-9. [PMID: 23321921]

Freehauf C, Van Hove JL, Gao D, Bernstein L, Thomas JA. Impact of geographic access to care on compliance and metabolic control in phenylketonuria. Mol Genet Metab. 2013 Jan;108(1):13-7. [PMID: 23177662]

Levandowski CB, Mailloux CM, Ferrara TM, Gowan K, Ben S, Jin Y, McFann KK, Holland PJ, Fain PR, Dinarello CA, Spritz RA. NLRP1 haplotypes associated with vitiligo and autoimmunity increase interleukin-1beta processing via the NLRP1 inflammasome. Proc Natl Acad Sci U S A. 2013 Feb 19;110(8):2952-6. [PMID: 23382179]

Seminotti B, Amaral AU, da Rosa MS, Fernandes CG, Leipnitz G, Olivera-Bravo S, Barbeito L, Ribeiro CA, de Souza DO, Woontner M, Goodman SI, Koeller DM, Wajner M. Disruption of brain redox homeostasis in glutaryl-CoA dehydrogenase deficient mice treated with high dietary lysine supplementation. Mol Genet Metab. 2013 Jan;108(1):30-9. [PMID: 23218171]

Spector EB. Fragile X- a family of disorders: changing phenotype and molecular genetics. In: Gersen SL, Keagle MB, editors. The principles of clinical cytogenetics. 3rd ed. New York: Springer; 2013.

Spellman C, Ahmed MM, Dubach D, Gardiner KJ. Expression of trisomic proteins in Down syndrome model systems. Gene. 2013 Jan 10;512(2):219-25. [PMID: 23103828]

Sperber GH, Sperber SM. Embryogenetics of cleft lip and palate. In: Berkowitz S, editor. Cleft lip and palate: diagnosis and management. 3rd ed. Heidelberg: Springer; 2013.

Stence NV, Coughlin CR 2nd, Fenton LZ, Thomas JA. Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency. Pediatr Radiol. 2013 Jul;43(7):882-5. [PMID: 23250031]

Su Y, Majtan T, Freeman KM, Linck R, Ponter S, Kraus JP, Burstyn JN. Comparative study of enzyme activity and heme reactivity in Drosophila melanogaster and Homo sapiens cystathionine beta-synthases. Biochemistry (Mosc). 2013 Jan 29;52(4):741-51. [PMID: 23002992]

Yauk CL, Lucas Argueso J, Auerbach SS, Awadalla P, Davis SR, Demarini DM, Douglas GR, Dubrova YE, Elespuru RK, Glover TW, Hales BF, Hurles ME, Klein CB, Lupski JR, Manchester DK, Marchetti F, Montpetit A, Mulvihill JJ, Robaire B, Robbins WA, Rouleau GA, Shaughnessy DT, Somers CM, Taylor JG 6th, Trasler J, Waters MD, Wilson TE, Witt KL, Bishop JB. Harnessing genomics to identify environmental determinants of heritable disease. Mutat Res. 2013 Jan-2013 Mar 31;752(1):6-9. [PMID: 22935230]

2012

Ahmed MM, Sturgeon X, Ellison M, Davisson MT, Gardiner KJ. Loss of correlations among proteins in brains of the Ts65Dn mouse model of down syndrome. J Proteome Res. 2012 Feb 3;11(2):1251-63. [PMID: 22214338]

Amaral AU, Cecatto C, Seminotti B, Zanatta A, Fernandes CG, Busanello EN, Braga LM, Ribeiro CA, de Souza DO, Woontner M, Koeller DM, Goodman S, Wajner M. Marked reduction of Na(+), K(+)-ATPase and creatine kinase activities induced by acute lysine administration in glutaryl-CoA dehydrogenase deficient mice. Mol Genet Metab. 2012 Sep;107(1-2):81-6. [PMID: 22578804]

Amaral AU, Seminotti B, Cecatto C, Fernandes CG, Busanello EN, Zanatta A, Kist LW, Bogo MR, de Souza DO, Woontner M, Goodman S, Koeller DM, Wajner M. Reduction of Na+, K+-ATPase activity and expression in cerebral cortex of glutaryl-CoA dehydrogenase deficient mice: a possible mechanism for brain injury in glutaric aciduria type I. Mol Genet Metab. 2012 Nov;107(3):375-82. [PMID: 22999741]

Aurand ER, Lampe KJ, Bjugstad KB. Defining and designing polymers and hydrogels for neural tissue engineering. Neurosci Res. 2012 Mar;72(3):199-213. [PMID: 22192467]

Aurand ER, Wagner J, Lanning C, Bjugstad KB. Building biocompatible hydrogels for tissue engineering of the brain and spinal cord. J Funct Biomater. 2012 Nov;3(4):839-863. http://www.mdpi.com/2079-4983/3/4/839

Bernstein L, Helm J, editors. Penny the penguin has PKU. Bloomington, IN: Authorhouse; 2012.

Bireley WR, Van Hove JL, Gallagher RC, Fenton LZ. Urea cycle disorders: brain MRI and neurological outcome. Pediatr Radiol. 2012 Apr;42(4):455-62. [PMID: 21989980]

Birlea SA, Spritz RA, Norris DA. Vitiligo. In: Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, Wolff K, editors. Fitzpatrick's dermatology in general medicine. 8th ed. New York: McGraw Hill; 2012.

Coughlin CR 2nd, Scharer GH, Shaikh TH. Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns. Genome Med. 2012 Oct 30;4(10):80. [PMID: 23114084]

Dickhout JG, Carlisle RE, Jerome DE, Mohammed-Ali Z, Jiang H, Yang G, Mani S, Garg SK, Banerjee R, Kaufman RJ, Maclean KN, Wang R, Austin RC. Integrated stress response modulates cellular redox state via induction of cystathionine gamma-lyase: cross-talk between integrated stress response and thiol metabolism. J Biol Chem. 2012 Mar 2;287(10):7603-14. [PMID: 22215680]

Estrada-Bernal A, Sanford SD, Sosa LJ, Simon GC, Hansen KC, Pfenninger KH. Functional complexity of the axonal growth cone: a proteomic analysis. PLoS One. 2012 ;7(2):e31858. [PMID: 22384089]

Ezzedine K, Lim HW, Suzuki T, Katayama I, Hamzavi I, Lan CC, Goh BK, Anbar T, Silva de Castro C, Lee AY, Parsad D, van Geel N, Le Poole IC, Oiso N, Benzekri L, Spritz R, Gauthier Y, Hann SK, Picardo M, Taieb A. Revised classification/nomenclature of vitiligo and related issues: the Vitiligo Global Issues Consensus Conference. Pigment Cell Melanoma Res . 2012 May;25(3):E1-13. [PMID: 22417114]

Gai X, Xie HM, Perin JC, Takahashi N, Murphy K, Wenocur AS, D'arcy M, O'Hara RJ, Goldmuntz E, Grice DE, Shaikh TH, Hakonarson H, Buxbaum JD, Elia J, White PS. Rare structural variation of synapse and neurotransmission genes in autism. Mol Psychiatry. 2012 Apr;17(4):402-11. [PMID: 21358714]

Galligan JJ, Smathers RL, Shearn CT, Fritz KS, Backos DS, Jiang H, Franklin CC, Orlicky DJ, Maclean KN, Petersen DR. Oxidative Stress and the ER Stress Response in a Murine Model for Early-Stage Alcoholic Liver Disease. J Toxicol. 2012;2012:207594. [PMID: 22829816]

Gordon P, Thomas JA, Suter R, Jurecki E. Evolving patient selection and clinical benefit criteria for sapropterin dihydrochloride (Kuvan(R)) treatment of PKU patients. Mol Genet Metab. 2012 Apr;105(4):672-6. [PMID: 22310224]

Grunert SC, Mullerleile S, de Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-Burgi S, van Teeffelen-Heithoff A, Suormala T, Sperl W, Kraus JP, Superti-Furga A, Schwab KO, Sass JO. Propionic acidemia: neonatal versus selective metabolic screening. J Inherit Metab Dis. 2012 Jan;35(1):41-9. [PMID: 22134541]

Hennermann JB, Berger JM, Grieben U, Scharer G, Van Hove JL. Prediction of long-term outcome in glycine encephalopathy: a clinical survey. J Inherit Metab Dis. 2012 Mar;35(2):253-61. [PMID: 22002442]

Hnizda A, Majtan T, Liu L, Pey AL, Carpenter JF, Kodicek M, Kozich V, Kraus JP. Conformational properties of nine purified cystathionine beta-synthase mutants. Biochemistry (Mosc). 2012 Jun 12;51(23):4755-63. [PMID: 22612060]

Hnizda A, Majtan T, Liu L, Pey AL, Carpenter JF, Kodicek M, Kozich V, Kraus JP. Correction to Conformational Properties of Nine Purified Cystathionine beta-Synthase Mutants. Biochemistry (Mosc). 2012 Jul 10;51(27):5540. [PMID: 22734603]

Jiang H, Stabler SP, Allen RH, Maclean KN. Altered expression of apoA-I, apoA-IV and PON-1 activity in CBS deficient homocystinuria in the presence and absence of treatment: possible implications for cardiovascular outcomes. Mol Genet Metab. 2012 Sep;107(1-2):55-65. [PMID: 22633282]

Jin Y, Birlea SA, Fain PR, Ferrara TM, Ben S, Riccardi SL, Cole JB, Gowan K, Holland PJ, Bennett DC, Luiten RM, Wolkerstorfer A, van der Veen JP, Hartmann A, Eichner S, Schuler G, van Geel N, Lambert J, Kemp EH, Gawkrodger DJ, Weetman AP, Taieb A, Jouary T, Ezzedine K, Wallace MR, McCormack WT, Picardo M, Leone G, Overbeck A, Silverberg NB, Spritz RA. Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. Nat Genet. 2012 Jun;44(6):676-80. [PMID: 22561518]

Jin Y, Ferrara T, Gowan K, Holcomb C, Rastrou M, Erlich HA, Fain PR, Spritz RA. Next-generation DNA re-sequencing identifies common variants of TYR and HLA-A that modulate the risk of generalized vitiligo via antigen presentation. J Invest Dermatol. 2012 Jun;132(6):1730-3. [PMID: 22402439]

Koolen DA, Kramer JM, Neveling K, Nillesen WM, Moore-Barton HL, Elmslie FV, Toutain A, Amiel J, Malan V, Tsai AC, Cheung SW, Gilissen C, Verwiel ET, Martens S, Feuth T, Bongers EM, de Vries P, Scheffer H, Vissers LE, de Brouwer AP, Brunner HG, Veltman JA, Schenck A, Yntema HG, de Vries BB. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet. 2012 Jun;44(6):639-41. [PMID: 22544363]

Kraus JP, Spector E, Venezia S, Estes P, Chiang PW, Creadon-Swindell G, Mullerleile S, de Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-Burgi S, van Teeffelen-Heithoff A, Suormala T, Ugarte M, Sperl W, Superti-Furga A, Schwab KO, Grunert SC, Sass JO. Mutation analysis in 54 propionic acidemia patients. J Inherit Metab Dis. 2012 Jan;35(1):51-63. [PMID: 22033733]

Le T, Altman T, Gardiner KJ, editors. Probability-based imputation method for fuzzy cluster analysis of gene expression microarray data. 9th International Conference on Information Technology: New Generations (ITNG); 2012 Apr 16-18; Las Vegas, Nevada. Information Technology: New Generations; 2012. http://ieeexplore.ieee.org/xpl/articleDetails.jsp?arnumber=6209145&sortType%3Dasc_p_Sequence%26filter%3DAND%28p_IS_Number%3A6209066%29

Le T, Altman T, Gardiner KJ, editors. Density-based imputation method for fuzzy cluster analysis of gene expression microarray data. 4th International Conference on Bioinformatics and Computational Biology; 2012 Mar 12-14; Las Vegas Nevada. International Society for Computers and their Applications (ISCA); 2012.

Luo Y, Ellis LZ, Dallaglio K, Takeda M, Robinson WA, Robinson SE, Liu W, Lewis KD, McCarter MD, Gonzalez R, Norris DA, Roop DR, Spritz RA, Ahn NG, Fujita M. Side population cells from human melanoma tumors reveal diverse mechanisms for chemoresistance. J Invest Dermatol. 2012 Oct;132(10):2440-50. [PMID: 22622430]

MacDonald A, van Rijn M, Feillet F, Lund Am, Bernstein L, Bosch AM, Gizewska M, van Spronsen FJ. Adherence issues in inherited metabolic disorders treated by low natural protein diets. Ann Nutr Metab. 2012 Dec;61(4):289-295. http://www.karger.com/Article/FullText/342256

Maclean KN. Betaine treatment of cystathionine β-synthase-deficient homocystinuria; does it work and can it be improved? Orphan Drugs: Research and Reviews. 2012 Sept 28;2:23-33. http://www.dovepress.com/betaine-treatment-of-cystathionine-beta-synthase-deficient-homocystinu-peer-reviewed-article-ODRR

Maclean KN, Greiner LS, Evans JR, Sood SK, Lhotak S, Markham NE, Stabler SP, Allen RH, Austin RC, Balasubramaniam V, Jiang H. Cystathionine protects against endoplasmic reticulum stress-induced lipid accumulation, tissue injury, and apoptotic cell death. J Biol Chem. 2012 Sep 14;287(38):31994-2005. [PMID: 22854956]

Maclean KN, Jiang H, Greiner LS, Allen RH, Stabler SP. Long-term betaine therapy in a murine model of cystathionine beta-synthase deficient homocystinuria: decreased efficacy over time reveals a significant threshold effect between elevated homocysteine and thrombotic risk. Mol Genet Metab. 2012 Mar;105(3):395-403. [PMID: 22192524]

Majtan T, Kraus JP. Folding and activity of mutant cystathionine beta-synthase depends on the position and nature of the purification tag: characterization of the R266K CBS mutant. Protein Expr Purif. 2012 Apr;82(2):317-24. [PMID: 22333527]

McCabe LL, Hickey F, McCabe ER. 50 years ago in The Journal of Pediatrics: a review of chromosome studies in the diagnosis of mongolism—case report of a Chinese infant. J Pediatr. 2012 Apr;160(4):609.

McCabe LL, McCabe ER. Call for change in prenatal counseling for Down syndrome. Am J Med Genet A. 2012 Mar;158A(3):482-4. [PMID: 22315189]

Oyenarte I, Majtan T, Ereno J, Corral-Rodriguez MA, Klaudiny J, Majtan J, Kraus JP, Martinez-Cruz LA. Purification, crystallization and preliminary crystallographic analysis of the full-length cystathionine beta-synthase from Apis mellifera. Acta Crystallogr Sect F Struct Biol Cryst Commun. 2012 Nov 1;68(Pt 11):1323-8. [PMID: 23143241]

Oyenarte I, Majtan T, Ereno J, Corral-Rodriguez MA, Kraus JP, Martinez-Cruz LA. Purification, crystallization and preliminary crystallographic analysis of human cystathionine beta-synthase. Acta Crystallogr Sect F Struct Biol Cryst Commun. 2012 Nov 1;68(Pt 11):1318-22. [PMID: 23143240]

Rachubinski AL, Crowley SK, Sladek JR Jr, Maclean KN, Bjugstad KB. Effects of neonatal neural progenitor cell implantation on adult neuroanatomy and cognition in the Ts65Dn model of Down syndrome. PLoS One. 2012;7(4):e36082. [PMID: 22558337]

Rachubinski AL, Maclean KN, Evans JR, Bjugstad KB. Modulating cognitive deficits and tau accumulation in a mouse model of aging Down syndrome through neonatal implantation of neural progenitor cells. Exp Gerontol. 2012 Sep;47(9):723-33. [PMID: 22776132]

Regnier V, Billard JM, Gupta S, Potier B, Woerner S, Paly E, Ledru A, David S, Luilier S, Bizot JC, Vacano G, Kraus JP, Patterson D, Kruger WD, Delabar JM, London J. Brain phenotype of transgenic mice overexpressing cystathionine beta-synthase. PLoS One. 2012;7(1):e29056. [PMID: 22253703]

Sanford SD, Yun BG, Leslie CC, Murphy RC, Pfenninger KH. Group IVA phospholipase A(2) is necessary for growth cone repulsion and collapse. J Neurochem. 2012 Mar;120(6):974-84. [PMID: 22220903]

Seminotti B, da Rosa MS, Fernandes CG, Amaral AU, Braga LM, Leipnitz G, de Souza DO, Woontner M, Koeller DM, Goodman S, Wajner M. Induction of oxidative stress in brain of glutaryl-CoA dehydrogenase deficient mice by acute lysine administration. Mol Genet Metab. 2012 May;106(1):31-8. [PMID: 22445450]

Smith AT, Su Y, Stevens DJ, Majtan T, Kraus JP, Burstyn JN. Effect of the disease-causing R266K mutation on the heme and PLP environments of human cystathionine beta-synthase. Biochemistry (Mosc). 2012 Aug 14;51(32):6360-70. [PMID: 22738154]

Spritz RA. Six decades of vitiligo genetics: genome-wide studies provide insights into autoimmune pathogenesis. J Invest Dermatol. 2012 Feb;132(2):268-73. [PMID: 21993561]

Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat. 2012 Jan;33(1):165-79. [PMID: 21948486]

Sturgeon X, Le T, Ahmed MM, Gardiner KJ. Pathways to cognitive deficits in Down syndrome. Prog Brain Res. 2012;197:73-100. [PMID: 22541289]

Sturgeon XH, Gardiner KJ. RCDA: a highly sensitive and specific alternatively spliced transcript assembly tool featuring upstream consecutive exon structures. Genomics. 2012 Dec;100(6):357-62. [PMID: 22971325]

Thomas JA, Greene CL, Berry GB. Lysosomal storage, peroxisomal, and glycosylation disorders and smith-lemli-opitz syndrome in the neonate. In: Gleason CA, Devaskar SU, editors. Avery's diseases of the newborn. 9th ed. Philadelphia: Elsevier Saunders; 2012.

Thomas JA, Van Hove JLK. Inborn errors of metabolism. In: Hay Jr. WW, Levin MJ, Deterding RR, Abzug MJ, Sondheimer JM, editors. Current diagnosis and treatment pediatrics. 21st ed. New York: McGraw Hill; 2012.

Trakadis Y, Kadlubowska D, Barnes R, Mitchell J, Spector E, Frerman F, Melancon S. Pregnancy of a patient with multiple Acyl-CoA dehydrogenation deficiency (MADD) . Mol Genet Metab. 2012 Aug;106(4):491-4 . [PMID: 22664151]

van Karnebeek CD, Hartmann H, Jaggumantri S, Bok LA, Cheng B, Connolly M, Coughlin CR 2nd, Das AM, Gospe SM Jr, Jakobs C, van der Lee JH, Mercimek-Mahmutoglu S, Meyer U, Struys E, Sinclair G, Van Hove J, Collet JP, Plecko BR, Stockler S. Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. Mol Genet Metab. 2012 Nov;107(3):335-44. [PMID: 23022070]

Wilkinson CC, Manchester DK, Keating RF, Ketch LL, Winston KR. Syndromic craniosynostosis, fibroblast growth factor receptor 2 (FGFR2) mutations, and sacrococcygeal eversion presenting as human tails. Childs Nerv Syst. 2012 Aug;28(8):1221-6. [PMID: 22661218]


2011

Ahmed MM, Gardiner KJ. Preserving protein profiles in tissue samples: differing outcomes with and without heat stabilization. J Neurosci Methods. 2011 Mar 15;196(1):99-106. [PMID: 21236297]

Al-Dirbashi OY, Kolker S, Ng D, Fisher L, Rupar T, Lepage N, Rashed MS, Santa T, Goodman SI, Geraghty MT, Zschocke J, Christensen E, Hoffmann GF, Chakraborty P. Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry. J Inherit Metab Dis. 2011 Feb;34(1):173-80. [PMID: 20978942]

AlFardan J, Brown K, Gessner J, Lunt B, Scharer G. Small duplication of chromosome (7)(p22.1p22.2) and consideration of a dup 7p syndrome critical region. Clin Dysmorphol. 2011 Oct;20(4):217-21. [PMID: 21734561]

Bartnik M, Derwinska K, Gos M, Obersztyn E, Kolodziejska KE, Erez A, Szpecht-Potocka A, Fang P, Terczynska I, Mierzewska H, Lohr NJ, Bellus GA, Reimschisel T, Bocian E, Mazurczak T, Cheung SW, Stankiewicz P. Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females. Genet Med. 2011 May;13(5):447-52. [PMID: 21293276]

Bernstein LE, Freehauf CL, Thomas JA, Yannicelli S. Evaluation of the Efficacy and Effectiveness of Metabolic University: A didactic training program for the metabolic clinician. Topics in Clinical Nutrition. 2011: 26( 2); 158-164.

Bernstein LE, Vockley J. Clinical Trials Education Series Video: Understanding clinical studies: are they right for you? BioMarin. 2011. (http://www.biomarinclinicaltrials.com/PKU.html)

Birlea SA, Jin Y, Bennett DC, Herbstman DM, Wallace MR, McCormack WT, Kemp EH, Gawkrodger DJ, Weetman AP, Picardo M, Leone G, Taieb A, Jouary T, Ezzedine K, van Geel N, Lambert J, Overbeck A, Fain PR, Spritz RA. Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP. J Invest Dermatol. 2011 Feb;131(2):371-81. [PMID: 21085187]

de Souza FM, Busquet N, Blatner M, Maclean KN, Restrepo D. Galantamine improves olfactory learning in the Ts65Dn mouse model of Down syndrome. Sci Rep. 2011;1:137. [PMID: 22355654]

Dougherty MJ. Six million years ago, what set our ancestors on the path from ape to human? The American Biology Teacher. 2011 Feb;73(2):66. http://www.jstor.org/stable/10.1525/abt.2011.73.2.2

Dougherty MJ, Pleasants C, Solow L, Wong A, Zhang H. A comprehensive analysis of high school genetics standards: are states keeping pace with modern genetics? CBE Life Sci Educ. 2011 Fall;10(3):318-27. [PMID: 21885828]

Dougherty MJ, Wilmoth DM, Tooke LS, Shaikh TH, Gai X, Hakonarson H, Biegel JA. Implementation of high resolution single nucleotide polymorphism array analysis as a clinical test for patients with hematologic malignancies. Cancer Genet. 2011 Jan;204(1):26-38. [PMID: 21356189]

Foley AR, Hu Y, Zou Y, Yang M, Medne L, Leach M, Conlin LK, Spinner N, Shaikh TH, Falk M, Neumeyer AM, Bliss L, Tseng BS, Winder TL, Bonnemann CG. Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. Ann Neurol. 2011 Jan;69(1):206-11. [PMID: 21280092]

Gentile CL, Nivala AM, Gonzales JC, Pfaffenbach KT, Wang D, Wei Y, Jiang H, Orlicky DJ, Petersen DR, Pagliassotti MJ, Maclean KN. Experimental evidence for therapeutic potential of taurine in the treatment of nonalcoholic fatty liver disease. Am J Physiol Regul Integr Comp Physiol. 2011 Dec;301(6):R1710-22. [PMID: 21957160]

Goldmuntz E, Paluru P, Glessner J, Hakonarson H, Biegel JA, White PS, Gai X, Shaikh TH. Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies. Congenit Heart Dis. 2011 Nov-2011 Dec 31;6(6):592-602. [PMID: 22010865]

Goodman SI. Biotin responsive disorders. In: Rudoph CD, Rudolph AM, Lister G, First LR, Gershon AA, editors. Rudolph's pediatrics. 22nd ed. New York: McGraw Hll; 2011.

Goodman SI. Disorders of fatty acid oxidation. In: Rudoph CD, Rudolph AM, Lister G, First LR, Gershon AA, editors. Rudolph's pediatrics. 22nd ed. New York: McGraw Hll; 2011.

Goodman SI. Disorders of ketogenesis. In: Rudoph CD, Rudolph AM, Lister G, First LR, Gershon AA, editors. Rudolph's pediatrics. 22nd ed. New York: McGraw Hll; 2011.

Goodman SI. Disorders of ketolysis. In: Rudoph CD, Rudolph AM, Lister G, First LR, Gershon AA, editors. Rudolph's pediatrics. 22nd ed. New York: McGraw Hll; 2011.

Goodman SI. Disorders of leukotriene synthesis and fatty aldehyde dehydrogenase. In: Rudoph CD, Rudolph AM, Lister G, First LR, Gershon AA, editors. Rudolph's pediatrics. 22nd ed. New York: McGraw Hll; 2011.

Goodman SI. Disorders of metabolism of lysine, hydrozylysine, and related compounds. In: Rudoph CD, Rudolph AM, Lister G, First LR, Gershon AA, editors. Rudolph's pediatrics. 22nd ed. New York: McGraw Hll; 2011.

Goodman SI, Saudubray J-M. Disorders of the branched chain amino and organic acid metabolism. In: Rudoph CD, Rudolph AM, Lister G, First LR, Gershon AA, editors. Rudolph's pediatrics. 22nd ed. New York: McGraw Hll; 2011.

Hall DA, Berry-Kravis E, Zhang W, Tassone F, Spector E, Zerbe G, Hagerman PJ, Ouyang B, Leehey MA. FMR1 gray-zone alleles: association with Parkinson's disease in women? Mov Disord. 2011 Aug 15;26 (10):1900-6. [PMID: 21567456]

Hall L, Wilson JA, Bernard K, Carbone MP, El Mubarak HS, Hallam SE, Klein RD, Pancholi P, Schoonmaker MM, Spector EB, Vitazka P, Boonyaratanakornkit J, Bryant B, Dong J, Emmadi R, Furtado MR, Lacbawan F, Martinez-Murillo F, Schutzbank TE, Selvarangan R, Shyamala V, Williams LO, WU A. Establishing molecular testing in clinical laboratory environments: approved guideline. CLSI Document MM19-A. Wayne, PA: Clinical and Laboratory Standards Institute; 2011.

Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, Hou JW, Ohta T, Liang D, Sudo A, Morris CA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH, Shaikh TH, Donnai D, Niikawa N, Shendure J, Bamshad MJ. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A. 2011 Jul;155A(7):1511-6. [PMID: 21671394]

Hochheiser H, Aronow BJ, Artinger K, Beaty TH, Brinkley JF, Chai Y, Clouthier D, Cunningham ML, Dixon M, Donahue LR, Fraser SE, Hallgrimsson B, Iwata J, Klein O, Marazita ML, Murray JC, Murray S, de Villena FP, Postlethwait J, Potter S, Shapiro L, Spritz R, Visel A, Weinberg SM, Trainor PA. The FaceBase Consortium: a comprehensive program to facilitate craniofacial research. Dev Biol. 2011 Jul 15;355(2):175-82. [PMID: 21458441]

Hur SC, Henderson-MacLennan NK, McCabe ER, Di Carlo D. Deformability-based cell classification and enrichment using inertial microfluidics. Lab Chip. 2011 Mar 7;11(5):912-20. [PMID: 21271000]

Jin Y, Birlea SA, Fain PR, Gowan K, Riccardi SL, Holland PJ, Bennett DC, Herbstman DM, Wallace MR, McCormack WT, Kemp EH, Gawkrodger DJ, Weetman AP, Picardo M, Leone G, Taieb A, Jouary T, Ezzedine K, van Geel N, Lambert J, Overbeck A, Spritz RA. Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset. J Invest Dermatol. 2011 Jun;131(6):1308-12. [PMID: 21326295]

Keating AK, Freehauf C, Jiang H, Brodsky GL, Stabler SP, Allen RH, Graham DK, Thomas JA, Van Hove JL, Maclean KN. Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuria. Mol Genet Metab. 2011 Aug;103(4):330-7. [PMID: 21601502]

Kendrick AA, Choudhury M, Rahman SM, McCurdy CE, Friederich M, Van Hove JL, Watson PA, Birdsey N, Bao J, Gius D, Sack MN, Jing E, Kahn CR, Friedman JE, Jonscher KR. Fatty liver is associated with reduced SIRT3 activity and mitochondrial protein hyperacetylation. Biochem J. 2011 Feb 1;433(3):505-14. [PMID: 21044047]

Kern DS, Maclean KN, Jiang H, Synder EY, Sladek JR Jr, Bjugstad KB. Neural stem cells reduce hippocampal tau and reelin accumulation in aged Ts65Dn Down syndrome mice. Cell Transplant. 2011;20(3):371-9. [PMID: 20875225]

Kolker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, Garcia Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Muhlhausen C, Muller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P. Diagnosis and management of glutaric aciduria type I--revised recommendations. J Inherit Metab Dis. 2011 Jun;34(3):677-94. [PMID: 21431622]

Kosuga M, Henderson-MacLennan NK, Zhang YH, Huang BL, Dipple KM, McCabe ER. Glycerol homeostasis and metabolism in glycerol kinase carrier mice. Mol Genet Metab. 2011 Jul;103(3):297-9. [PMID: 21536471]

Lachke SA, Alkuraya FS, Kneeland SC, Ohn T, Aboukhalil A, Howell GR, Saadi I, Cavallesco R, Yue Y, Tsai AC, Nair KS, Cosma MI, Smith RS, Hodges E, Alfadhli SM, Al-Hajeri A, Shamseldin HE, Behbehani A, Hannon GJ, Bulyk ML, Drack AV, Anderson PJ, John SW, Maas RL. Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. Science. 2011 Mar 25;331(6024):1571-6. [PMID: 21436445]

Lampe KJ, Kern DS, Mahoney MJ, Bjugstad KB . The administration of BDNF and GDNF to the brain via PLGA microparticles patterned within a degradable PEG-based hydrogel: Protein distribution and the glial response. J Biomed Mater Res A. 2011 Mar 1;96(3):595-607. [PMID: 21254391]

Landis MN, Davis CL, Bellus GA, Wolverton SE. Immunosuppression and sebaceous tumors: a confirmed diagnosis of Muir-Torre syndrome unmasked by immunosuppressive therapy. J Am Acad Dermatol. 2011 Nov;65(5):1054-8.e1. [PMID: 21550136]

Le T, Gardiner KJ. A validation method for fuzzy clustering of gene expression data. WorldComp 2011 Proceedings, 2011 International Conference on Bioinformatics & Computational Biology; 2011; Las Vegas, Nevada. Vol. I: 23–29. (http://world-comp.org/p2011/BIC.htm)

Majtan T, Freeman KM, Smith AT, Burstyn JN, Kraus JP. Purification and characterization of cystathionine beta-synthase bearing a cobalt protoporphyrin. Arch Biochem Biophys. 2011 Apr 1;508(1):25-30. [PMID: 21262193]

Majtan T, Frerman FE, Kraus JP. Effect of cobalt on Escherichia coli metabolism and metalloporphyrin formation. Biometals. 2011 Apr;24(2):335-47. [PMID: 21184140]

Mazilu JK, McCabe ER. Moving toward personalized cell-based interventions for adrenal cortical disorders: part 1--Adrenal development and function, and roles of transcription factors and signaling proteins. Mol Genet Metab. 2011 Sep-2011 Oct 31;104(1-2):72-9. [PMID: 21764344]

Mazilu JK, McCabe ER. Moving toward personalized cell-based interventions for adrenal cortical disorders: part 2--Human diseases and tissue engineering. Mol Genet Metab. 2011 Sep-2011 Oct 31;104(1-2):80-8. [PMID: 21764617]

McCabe LL, Hickey F, McCabe ER. Down syndrome: addressing the gaps. J Pediatr. 2011 Oct;159(4):525-6. [PMID: 21840539]

McCabe LL, McCabe ER. Down syndrome: coercion and eugenics. Genet Med. 2011 Aug;13(8):708-10. [PMID: 21555947]

McCabe LL, McCabe ER. Down syndrome: issues to consider in a national registry, research database and biobank. Mol Genet Metab. 2011 Sep-2011 Oct 31;104(1-2):10-2. [PMID: 21501965]

McCabe LL, McCabe ER. Personalized medicine for individuals with Down syndrome. Mol Genet Metab. 2011 Sep-2011 Oct 31;104(1-2):7-9. [PMID: 21807541]

Mooney R, Haeger S, Lawal R, Mason M, Shrestha N, Laperle A, Bjugstad K, Mahoney M. Control of neural cell composition in poly(ethylene glycol) hydrogel culture with soluble factors. Tissue Eng Part A. 2011 Nov;17(21-22): 2805-15. [PMID: 21823990]

Nguyen CD, Costa AC, Cios KJ, Gardiner KJ. Machine learning methods predict locomotor response to MK-801 in mouse models of down syndrome. J Neurogenet. 2011 Mar ;25(1-2):40-51. [PMID: 21391779]

Nguyen CD, Gardiner KJ, Cios KJ. Protein annotation from protein interaction networks and Gene Ontology. J Biomed Inform. 2011 Oct;44(5):824-9. [PMID: 21571095]

Oster-Granite ML, Parisi MA, Abbeduto L, Berlin DS, Bodine C, Bynum D, Capone G, Collier E, Hall D, Kaeser L, Kaufmann P, Krischer J, Livingston M, McCabe LL, Pace J, Pfenninger K, Rasmussen SA, Reeves RH, Rubinstein Y, Sherman S, Terry SF, Whitten MS, Williams S, McCabe ER, Maddox YT. Down syndrome: national conference on patient registries, research databases, and biobanks. Mol Genet Metab. 2011 Sep-2011 Oct 31;104(1-2):13-22. [PMID: 21835664]

Parsley L, Bellus G, Handler M, Tsai AC. Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx. Am J Med Genet A. 2011 Nov;155A(11):2766-70. [PMID: 21932317]

Parsley LK, Thomas JA. The patient with infantile seizures. Curr Opin Pediatr. 2011 Dec;23(6):693-9. [PMID: 21926623]

Pickler L, Wilson R, Tsai AC. Revisiting recombinant 8 syndrome. Am J Med Genet A. 2011 Aug;155A(8):1923-9. [PMID: 21739594]

Rosenfeld JA, Stephens LE, Coppinger J, Ballif BC, Hoo JJ, French BN, Banks VC, Smith WE, Manchester D, Tsai AC, Merrion K, Mendoza-Londono R, Dupuis L, Schultz R, Torchia B, Sahoo T, Bejjani B, Weaver DD, Shaffer LG. Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes. Eur J Hum Genet. 2011 May;19(5):547-54. [PMID: 21248749]

Shaikh TH, Haldeman-Englert C, Geiger EA, Ponting CP, Webber C. Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes. Hum Mol Genet. 2011 Mar 1;20(5):880-93. [PMID: 21147756]

Smith AT, Majtan T, Freeman KM, Su Y, Kraus JP, Burstyn JN. Cobalt cystathionine beta-synthase: a cobalt-substituted heme protein with a unique thiolate ligation motif. Inorg Chem. 2011 May 16;50(10):4417-27. [PMID: 21480614]

Spencer E, Davis J, Mikhail F, Fu C, Vijzelaar R, Zackai EH, Feret H, Meyn MS, Shugar A, Bellus G, Kocsis K, Kivirikko S, Poyhonen M, Messiaen L. Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR. Am J Med Genet A . 2011 Jun;155A(6):1352-9. [PMID: 21548021]

Spritz R. Letter: Misdiagnosis of "neurofibromatosis" in patients with piebaldism. Dermatol Online J. 2011;17(11):13. [PMID: 22136869]

Spritz RA. The genetics of vitiligo. J Invest Dermatol. 2011;131(E1):E18-20. [PMID: 22094401]

Spritz RA. Recent progress in the genetics of generalized vitiligo. J Genet Genomics. 2011 Jul 20;38(7):271-8. [PMID: 21777851]

Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL. Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. Mol Genet Metab. 2011 Sep-2011 Oct 31;104(1-2):48-60. [PMID: 21704546]

Sturgeon X, Gardiner KJ. Transcript catalogs of human chromosome 21 and orthologous chimpanzee and mouse regions. Mamm Genome. 2011 Jun;22(5-6):261-71. [PMID: 21400203]

Thomas JA, Greene CL, Berry GT. Lysosomal storage, peroxisomal, and glycosylation disorders and smith-lemli-opitz syndrome in the neonate. In: Gleason CA, Devaskar SU, editors. Avery's diseases of the newborn. 9th ed. Philadelphia: Elsevier Saunders; 2011.

Tsai AC, Dossett CJ, Walton CS, Cramer AE, Eng PA, Nowakowska BA, Pursley AN, Stankiewicz P, Wiszniewska J, Cheung SW. Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH. Eur J Hum Genet. 2011 Jan;19(1):43-9. [PMID: 20717166]

Van Hove JL, Lohr NJ. Metabolic and monogenic causes of seizures in neonates and young infants. Mol Genet Metab. 2011 Nov;104(3):214-30. [PMID: 21839663]

Wajner M, Goodman SI. Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies. J Bioenerg Biomembr. 2011 Feb;43(1):31-8. [PMID: 21249436]

Weatherley-White RC, Ben S, Jin Y, Riccardi S, Arnold TD, Spritz RA. Analysis of genomewide association signals for nonsyndromic cleft lip/palate in a Kenya African Cohort. Am J Med Genet A. 2011 Oct;155A(10):2422-25. [PMID: 22043487]

2010

Baker PR, Tsai AC, Springer M, Swisshelm K, March J, Brown K, Bellus G. Male with mosaicism for supernumerary ring X chromosome: analysis of phenotype and characterization of genotype using array comparative genome hybridization. J Craniofac Surg. 2010 Sep;21(5):1369-75. [PMID: 20856023]

Bjugstad KB, Lampe K, Kern DS, Mahoney M. Biocompatibility of poly(ethylene glycol)-based hydrogels in the brain: an analysis of the glial response across space and time. J Biomed Mater Res A. 2010 Oct;95(1):79-91. [PMID: 20740603]

Freehauf C, Van Hove J, Bernstein L, Thomas J. Impact of geographic acess to care on compliance and metabolic control in phenlyketonuria (PKU). Poster session presented at: SIMD 2010 Annual Meeting. 2010 Mar 27-31; Albuequerque, NM.

Kozich V, Sokolova J, Klatovska V, Krijt J, Janosik M, Jelinek K, Kraus JP. Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. Hum Mutat. 2010 Jul;31(7):809-19. [PMID: 20506325]

Lampe KJ, Bjugstad KB, Mahoney MJ. Impact of degradable macromer content in a poly(ethylene glycol) hydrogel on neural cell metabolic activity, redox state, proliferation, and differentiation. Tissue Eng Part A. 2010 Jun;16(6):1857-66. [PMID: 20067398]

Lampe KJ, Mooney RG, Bjugstad KB, Mahoney MJ. Effect of macromer weight percent on neural cell growth in 2D and 3D nondegradable PEG hydrogel culture. J Biomed Mater Res A. 2010 Sep 15;94(4):1162-71. [PMID: 20694983]

Lohr NJ, Springer M, Swisshelm K, Bellus G. Tricho-rhino-phalangeal syndrome, type 2 with diaphragmatic hernia due to deletion at 8q24.21 –q24.23 that excludes the TRPS1 gene. Poster presented at: 2010 ACMG Annual Clinical Genetics Meeting; 2010 Mar 24-28; Albuquerque, NM.

Majtan T, Liu L, Carpenter JF, Kraus JP. Rescue of cystathionine beta-synthase (CBS) mutants with chemical chaperones: purification and characterization of eight CBS mutant enzymes. J Biol Chem. 2010 May 21;285(21):15866-73. [PMID: 20308073]

Pfenninger KH. Plasma membrane expansion: a neuron's Herculean task. Nat Rev Neurosci. 2009 Apr;10(4):251-61. [PMID: 19259102]

Redmond DE Jr, Weiss S, Elsworth JD, Roth RH, Wakeman DR, Bjugstad KB, Collier TJ, Blanchard BC, Teng YD, Synder EY, Sladek JR Jr. Cellular repair in the parkinsonian nonhuman primate brain. Rejuvenation Res. 2010 Apr-2010 Jun 30;13(2-3):188-94. [PMID: 20370501]

Saenz MS, Van Hove J, Scharer G. Neonatal liver failure: a genetic and metabolic perspective. Curr Opin Pediatr. 2010 Apr;22(2):241-5. [PMID: 20090522]

Thomas JA and VanHove JLK. Inborn Errors of Metabolism. In: Hay WW Jr, Levin MJ, Sondheimer JM, Deterding RR, editors. Current pediatric diagnosis and treatment. 20th ed. New York: McGraw-Hill; 2010.

Tsai A C-H, Manchester DK, Elias ER. Genetics and Dysmorphology. In: Hay WW Jr, Levin MJ, Sondheimer JM, Deterding RR, editors. Current pediatric diagnosis and treatment. 20th ed. New York: McGraw-Hill; 2010.


2009

Barnett CP, Mendoza-Londono R, Blaser S, Gillis J, Dupuis L, Levin AV, Chiang PW, Spector E, Reardon W. Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation. Am J Med Genet A. 2009 Mar;149A(3):431-6. [PMID: 19208381]

Birlea SA, Laberge GS, Procopciuc LM, Fain PR, Spritz RA. CTLA4 and generalized vitiligo: two genetic association studies and a meta-analysis of published data. Pigment Cell Melanoma Res. 2009 Apr;22(2):230-4. [PMID: 19175525]

Jakubowski H, Perla-Kajan J, Finnell RH, Cabrera RM, Wang H, Gupta S, Kruger WD, Kraus JP, Shih DM. Genetic or nutritional disorders in homocysteine or folate metabolism increase protein N-homocysteinylation in mice. FASEB J. 2009 Jun;23(6):1721-7. [PMID: 19204075]

Kraus JP, Hasek J, Kozich V, Collard R, Venezia S, Janosikova B, Wang J, Stabler SP, Allen RH, Jakobs C, Finn CT, Chien YH, Hwu WL, Hegele RA, Mudd SH. Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies. Mol Genet Metab. 2009 Aug;97(4):250-9. [PMID: 19428278]

Leach SM, Tipney H, Feng W, Baumgartner WA, Kasliwal P, Schuyler RP, Williams T, Spritz RA, Hunter L. Biomedical discovery acceleration, with applications to craniofacial development. PLoS Comput Biol. 2009 Mar;5(3):e1000215. [PMID: 19325874]

Namba RM, Cole AA, Bjugstad KB, Mahoney MJ . Development of porous PEG hydrogels that enable efficient, uniform cell-seeding and permit early neural process extension. Acta Biomater. 2009 Jul;5(6):1884-97. [PMID: 19250891]

Redmond DE Jr, Elsworth JD, Roth RH, Leranth C, Collier TJ, Blanchard B, Bjugstad KB, Samulski RJ, Aebischer P, Sladek JR Jr. Embryonic substantia nigra grafts in the mesencephalon send neurites to the host striatum in non-human primate after overexpression of GDNF. J Comp Neurol. 2009 Jul 1;515(1):31-40. [PMID: 19399891]

Sozen MA, Hecht JT, Spritz RA. Mutation and association analysis of the PVR and PVRL2 genes in patients with non-syndromic cleft lip and palate. Genet Mol Biol. 2009;32(3):466-469.

Tipney HJ, Leach SM, Feng W, Spritz R, Williams T, Hunter L. Leveraging existing biological knowledge in the identification of candidate genes for facial dysmorphology. BMC Bioinformatics. 2009;10 Suppl 2:S12. [PMID: 19208187]

Tsai AC, Lee NC, Chien YS, Hwu WL, Spector E, Chiang PW. Somatic and germline mosaicism in individuals with rubistein-taybi syndrome may not be as rare as we thought. Poster session presented at: The American Society of Human Genetics 59th Annual Meeting. 2009 Oct 20-24: Honolulu, HI.

Van Hove JL, Cunningham V, Rice C, Ringel SP, Zhang Q, Chou PC, Truong CK, Wong LJ. Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease. Am J Med Genet A. 2009 May;149A(5):861-7. [PMID: 19353676]

2008

Arnold GL, Koeberl DD, Matern D, Barshop B, Braverman N, Burton B, Cederbaum S, Fiegenbaum A, Garganta C, Gibson J, Goodman SI, Harding C, Kahler S, Kronn D, Longo N. A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Mol Genet Metab. 2008 Apr;93(4):363-70. [PMID: 18155630]

Auer ET Jr, Bernstein LE. Estimating when and how words are acquired: a natural experiment on the development of the mental lexicon. J Speech Lang Hear Res. 2008 Jun;51(3):750-8. [PMID: 18506048]

Birlea SA, Fain PR, Spritz RA. A Romanian population isolate with high frequency of vitiligo and associated autoimmune diseases. Arch Dermatol. 2008 Mar;144(3):310-6. [PMID: 18347286]

Bjugstad KB, Redmond DE Jr, Lampe KJ, Kern DS, Sladek JR Jr, Mahoney MJ. Biocompatibility of PEG-based hydrogels in primate brain. Cell Transplant. 2008;17(4):409-15. [PMID: 18522243]

Bjugstad KB, Teng YD, Redmond DE Jr, Elsworth JD, Roth RH, Cornelius SK, Snyder EY, Sladek JR Jr. Human neural stem cells migrate along the nigrostriatal pathway in a primate model of Parkinson's disease. Exp Neurol. 2008 Jun;211(2):362-9. [PMID: 18394605]

Brautbar A, Wang J, Abdenur JE, Chang RC, Thomas JA, Grebe TA, Lim C, Weng SW, Graham BH, Wong LJ. The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle. Mol Genet Metab. 2008 Aug;94(4):485-90. [PMID: 18495510]

Chiang PW, Aliaga S, Travers S, Spector E, Tsai AC. Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome. Curr Opin Pediatr. 2008 Feb;20(1):103-6. [PMID: 18197048]

Chiang PW, Drautz JM, Tsai AC, Spector E, Clericuzio CL. A new hypothesis of OCA1B.Am J Med Genet A. 2008 Nov;146A(22):2968-70. [PMID: 18925668]

Chiang PW, Fulton AB, Spector E, Hisama FM. Synergistic interaction of the OCA2 and OCA3 genes in a family. Am J Med Genet A. 2008 Sep;146A(18):2427-30. [PMID: 18680187]

Chiang PW, Spector E, Tsai AC. Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive. Am J Med Genet A. 2008 Jun;146A(11):1493-6. [PMID: 18449927]

Crombez EA, Cederbaum SD, Spector E, Chang E, Salazar D, Neidech JA, Goodman S. Maternal glutaric acidemia type I identified by newborn screening. Mol Genet Metab. 2008 May;94(1):132-4. [PMID: 18304851]

Elias ER, Tsai AC, Manchester DK. Genetics and dysmorphology. In: Hay WW Jr, Levin MJ, Sondheimer JM, Deterding RR, editors. Current pediatric diagnosis and treatment. 19th ed. New York: McGraw Hill; 2009.

Elsworth JD, Redmond DE Jr, Leranth C, Bjugstad KB, Sladek JR Jr, Collier TJ, Foti SB, Samulski RJ, Vives KP, Roth RH. AAV2-mediated gene transfer of GDNF to the striatum of MPTP monkeys enhances the survival and outgrowth of co-implanted fetal dopamine neurons. Exp Neurol. 2008 May;211(1):252-8. [PMID: 18346734]

Fielding AJ, Usselman RJ, Watmough N, Simkovic M, Frerman FE, Eaton GR, Eaton SS. Electron spin relaxation enhancement measurements of interspin distances in human, porcine, and Rhodobacter electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO). J Magn Reson. 2008 Feb;190(2):222-32. [PMID: 18037314]

Frank N, Kent JO, Meier M, Kraus JP. Purification and characterization of the wild type and truncated human cystathionine beta-synthase enzymes expressed in E. coli. Arch Biochem Biophys. 2008 Feb;470(1):64-72. [PMID: 18060852]

Hökfelt T, Stanic D, Sanford SD, Gatlin JC, Nilsson I, Paratcha G, Ledda F, Fetissov S, Lindfors C, Herzog H, Johansen JE, Ubink R, Pfenninger KH. NPY and its involvement in axon guidance, neurogenesis, and feeding.Nutrition. 2008 Sep;24(9):860-8. [PMID: 18725084]

Hutton SM, Spritz RA. A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. Invest Ophthalmol Vis Sci. 2008 Mar;49(3):868-72. [PMID: 18326704]

Hutton SM, Spritz RA. Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. J Invest Dermatol. 2008 Oct;128(10):2442-50. [PMID: 18463683]

Keyser B, Glatzel M, Stellmer F, Kortmann B, Lukacs Z, Kolker S, Sauer SW, Muschol N, Herdering W, Thiem J, Goodman SI, Koeller DM, Ullrich K, Braulke T, Muhlhausen C. Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1. Biochim Biophys Acta. 2008 Jun;1782(6):385-90. [PMID: 18348873]

Kronquist KE, Sherman SL, Spector EB. Clinical significance of tri-nucleotide repeats in Fragile X testing: A clarification of American College of Medical Genetics guidelines. Genet Med. 2008 Nov;10(11):845-7. [PMID: 18941415]

Kuhn DE, Nuovo GJ, Martin MM, Malana GE, Pleister AP, Jiang J, Schmittgen TD, Terry AV Jr, Gardiner K, Head E, Feldman DS, Elton TS. Human chromosome 21-derived miRNAs are overexpressed in Down syndrome brains and hearts. Biochem Biophys Res Commun. 2008 Jun;370(3):473-7. [PMID: 18387358]

LaBerge GS, Bennett DC, Fain PR, Spritz RA. PTPN22 is genetically associated with risk of generalized vitiligo, but CTLA4 is not. J Invest Dermatol. 2008 Jul;128(7):1757-62. [PMID: 18200060]

Laberge GS, Birlea SA, Fain PR, Spritz RA. The PTPN22-1858C>T (R620W) functional polymorphism is associated with generalized vitiligo in the Romanian population. Pigment Cell Melanoma Res. 2008 Apr;21(2):206-8. [PMID: 18426414]

Lee MT, Tsai AC, Chou CH, Sun FM, Huang LC, Yen P, Lin CC, Liu CY, Wu JY, Chen YT, Tsai FJ. Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia. Genomic Med. 2008 Jan;2(1-2):45-9. [PMID: 18696259]

Longo N, Schrijver I, Vogel H, Pique LM, Cowan TM, Pasquali M, Steinberg GK, Hedlund GL, Ernst SL, Gallagher RC, Enns GM. Progressive cerebral vascular degeneration with mitochondrial encephalopathy. Am J Med Genet A. 2008 Feb;146(3):361-7. [PMID: 18203188]

Maillot F, Kraus JP, Lee PJ. Environmental influences on familial discordance of phenotype in people with homocystinuria: a case report. J Med Case Reports. 2008;2:113. [PMID: 18423051]

Majtan T, Singh LR, Wang L, Kruger WD, Kraus JP. Active cystathionine beta-synthase can be expressed in heme-free systems in the presence of metal-substituted porphyrins or a chemical chaperone. J Biol Chem. 2008 Dec;283(50):34588-95. [PMID: 18849566]

McNaughton CH, Moon J, Strawderman MS, Maclean KN, Evans J, Strupp BJ. Evidence for social anxiety and impaired social cognition in a mouse model of fragile X syndrome. Behav Neurosci. 2008 Apr;122(2):293-300. [PMID: 18410169]

Monaghan KG, Feldman GL, Palomaki GE, Spector EB; Ashkenazi Jewish Reproductive Screening Working Group; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee. Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population. Genet Med. 2008 Jan;10(1):57-72. [PMID: 18197058]

Nguyen CD, Mannino M, Gardiner K, Cios KL. ClusFCM: an algorithm for predicting protein functions using homologies and protein interactions. J Bioinform Comput Biol. 2008 Feb;6(1):203-22. [PMID: 18324753]

Pritchard M, Reeves RH, Dierssen M, Patterson D, Gardiner KJ. Down syndrome and the genes of human chromosome 21: current knowledge and future potentials. Report on the Expert workshop on the biology of chromosome 21 genes: towards gene-phenotype correlations in Down syndrome. Washington D.C., September 28-October 1, 2007. Cytogenet Genome Res. 2008;121(1):67-77. [PMID: 18544929]

Sanford SD, Gatlin JC, Hokfelt T, Pfenninger KH. Growth cone responses to growth and chemotropic factors. Eur J Neurosci. 2008 Jul;28(2):268-78. [PMID: 18702698]

Sladek JR Jr, Bjugstad KB, Collier TJ, Bundock EA, Blanchard BC, Elsworth JD, Roth RH, Redmond DE Jr. Embryonic substantia nigra grafts show directional outgrowth to cografted striatal grafts and potential for pathway reconstruction in nonhuman primate. Cell Transplant. 2008;17(4):427-44. [PMID: 18522245]

Spritz RA. The genetics of generalized vitiligo. Curr Dir Autoimmun. 2008;10:244-57. [PMID: 18460890]

Swanson MA, Usselman RJ, Frerman FE, Eaton GR, Eaton SS. The iron-sulfur cluster of electron transfer flavoprotein-ubiquinone oxidoreductase is the electron acceptor for electron transfer flavoprotein. Biochemistry. 2008 Aug;47(34):8894-901. [PMID: 18672901]

Thomas JA, Van Hove JLK. Inborn errors of metabolism. In: Hay WW Jr, Levin MJ, Sondheimer JM, Deterding RR, editors. Current pediatric diagnosis and treatment, 19th ed. New York: McGraw Hill; 2009.

Usselman RJ, Fielding AJ, Frerman FE, Watmough NJ, Eaton GR, Eaton SS. Impact of mutations on the midpoint potential of the [4Fe-4S]+1,+2 cluster and on catalytic activity in electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO). Biochemistry. 2008 Jan;47(1):92-100. [PMID: 18069858]

Van Hove JL, Freehauf C, Miyamoto S, Vladutiu GD, Pancrudo J, Bonilla E, Lovell MA, Mierau GW, Thomas JA, Shanske S. Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene. Eur J Pediatr. 2008 Jul;167(7):771-6. [PMID: 17891417]

Van Hove JL, Josefsberg S, Freehauf C, Thomas JA, Thuy LP, Barshop BA, Woontner M, Mock DM, Chiang PW, Spector E, Meneses-Morales I, Cervantes-Roldán R, León-Del-Río A. Management of a patient with holocarboxylase synthetase deficiency. Mol Genet Metab. 2008 Dec;95(4):201-5. [PMID: 18974016]

Voronov SV, Frere SG, Giovedi S, Pollina EA, Borel C, Zhang H, Schmidt C, Akeson EC, Wenk MR, Cimasoni L, Arancio O, Davisson MT, Antonarakis SE, Gardiner K, De Camilli P, Di Paolo G. Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome. Proc Natl Acad Sci USA. 2008 Jul;105(27):9415-20. [PMID: 18591654]

Yu X, Fan C, Shan Z, Teng X, Guan H, Li Y, Teng D, Jin Y, Chong W, Yang F, Dai H, Yu Y, Li J, Chen Y, Zhao D, Shi X, Hu F, Mao J, Gu X, Yang R, Tong Y, Wang W, Gao T, Li C, Teng W. A five-year follow-up study of goiter and thyroid nodules in three regions with different iodine intakes in China. J Endocrinol Invest. 2008 Mar;31(3):243-50. [PMID: 18401207]


2007

Berk DR, Spector EB, Bayliss SJ. Familial acanthosis nigricans due to K650T FGFR3 mutation. Arch Dermatol. 2007 Sep;143(9):1153-6. [PMID: 17875876]

Bernstein L. Expanded newborn screening. The building block for life. Chicago: Pediatric Nutrition Practice Group; American Dietetic Association. 2007;30(3).

Brodsky GL, Bowersox JA, Fitzgerald-Miller L, Miller LA, Maclean KN. The prelamin A pre-peptide induces cardiac and skeletal myoblast differentiation. Biochem Biophys Res Commun. 2007 May 18;356(4):872-9. [PMID: 17389141]

Cherney MM, Pazicni S, Frank N, Marvin KA, Kraus JP, Burstyn JN. Ferrous human cystathionine beta-synthase loses activity during enzyme assay due to a ligand switch process. Biochemistry. 2007 Nov;46(45):13199-210. [PMID: 17956124]

Chintala S, Tan J, Gautam R, Rusiniak ME, Guo X, Li W, Gahl WA, Huizing M, Spritz RA, Hutton S, Novak EK, Swank RT. The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granules. Blood. 2007 Feb;109(4):1533-40. [PMID: 17062724]

Collier TJ, Lipton J, Daley BF, Palfi S, Chu Y, Sortwell C, Bakay RA, Sladek JR Jr, Kordower JH. Aging-related changes in the nigrostriatal dopamine system and the response to MPTP in nonhuman primates: diminished compensatory mechanisms as a prelude to Parkinsonism. Neurobiol Dis. 2007 Apr;26(1):56-65. [PMID: 17254792]

Dowlati D, Winston KR, Ketch LL, Quinones R, Giller R, Frattini A, van Hove J. Expansion cranioplasty with jackscrew distracters for craniosynostosis and intracranial hypertension in transplanted osteopetrosis. Pediatr Neurosurg. 2007;43(2):102-6. [PMID: 17337920]

Du Y, Stasko M, Costa AC, Davisson MT, Gardiner KJ. Editing of the serotonin 2C receptor pre-mRNA: effects of the Morris water maze. Gene. 2007 Apr;391(1-2):186-97. [PMID: 17307311]

Elias ER, Tsai AC, Manchester DK. Genetics and dysmorphology. In: Hay WW Jr, Levin MJ, Sondheimer JM, Deterding RR, editors. Current pediatric diagnosis and treatment. 18th ed. New York: McGraw Hill; 2007.

Goodman S. Piercing the veil: the marginalization of midwives in the United States. Soc Sci Med. 2007 Aug;65(3):610-21. [PMID: 17475381]

Goodman SI. Organic acidemias and disorders of fatty acid oxidation. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR, editors. Emery & Rimoin's principles and practice of medical genetics. 5th ed. New York: Churchill-Livingstone Press, 2007.

James AM, Sharpley MS, Manas AR, Frerman FE, Hirst J, Smith RA, Murphy MP. Interaction of the mitochondria-targeted antioxidant MitoQ with phospholipid bilayers and ubiquinone oxidoreductases. J Biol Chem. 2007 May;282(20):14708-18. [PMID: 17369262]

Jin Y, Bennett DC, Amadi-Myers A, Holland P, Riccardi SL, Gowan K, Fain PR, Spritz RA. Vitiligo-associated multiple autoimmune disease is not associated with genetic variation in AIRE. Pigment Cell Res. 2007 Oct;20(5):402-4. [PMID: 17850514]

Jin Y, Birlea SA, Fain PR, Spritz RA. Genetic variations in NALP1 are associated with generalized vitiligo in a Romanian population. J Invest Dermatol. 2007 Nov;127(11):2558-62. [PMID: 17637824]

Jin Y, Mailloux CM, Gowan K, Riccardi SL, LaBerge G, Bennett DC, Fain PR, Spritz RA. NALP1 in vitiligo-associated multiple autoimmune disease. N Engl J Med. 2007 Mar;356(12):1216-25. [PMID: 17377159]

Kalman L, Johnson MA, Beck J, Berry-Kravis E, Buller A, Casey B, Feldman GL, Handsfield J, Jakupciak JP, Maragh S, Matteson K, Muralidharan K, Richie KL, Rohlfs EM, Schaefer F, Sellers T, Spector E, Richards CS. Development of genomic reference materials for Huntington disease genetic testing. Genet Med. 2007 Oct;9(10):719-23. [PMID: 18073586]

Kolker S, Christensen E, Leonard JV, Greenberg CR, Burlina AB, Burlina AP, Dixon M, Duran M, Goodman SI, Koeller DM, Muller E, Naughten ER, Neumaier-Probst E, Okun JG, Kyllerman M, Surtees RA, Wilcken B, Hoffmann GF, Burgard P. Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J Inherit Metab Dis. 2007 Feb;30(1):5-22. [PMID: 17203377]

Morrow BA, Roth RH, Redmond DE Jr, Sladek JR Jr, Elsworth JD. Apoptotic natural cell death in developing primate dopamine midbrain neurons occurs during a restricted period in the second trimester of gestation. Exp Neurol. 2007 Apr;204(2):802-7. [PMID: 17313945]

Nguyen C, Gardiner KJ, Cios KJ. A hidden Markov model for predicting protein interfaces. J Bioinform Comput Biol. 2007 Jun;5(3):739-53. [PMID: 17688314]

Nguyen C, Thaicharoen S, Lacroix T, Gardiner K, Cios KJ. A comprehensive human chromosome 21 database. IEEE Eng Med Biol Mag. 2007 Mar-Apr;26(2):86-93. [PMID: 17441613]

Olsen RK, Olpin SE, Andresen BS, Miedzybrodzka ZH, Pourfarzam M, Merinero B, Frerman FE, Beresford MW, Dean JC, Cornelius N, Andersen O, Oldfors A, Holme E, Gregersen N, Turnbull DM, Morris AA. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain. 2007 Aug;130(Pt 8):2045-54. [PMID: 17584774]

Pong WW, Stouracova R, Frank N, Kraus JP, Eldred WD. Comparative localization of cystathionine beta-synthase and cystathionine gamma-lyase in retina: differences between amphibians and mammals. J Comp Neurol. 2007 Nov;505(2):158-65. [PMID: 17853447]

Putcha GV, Bejjani BA, Bleoo S, Booker JK, Carey JC, Carson N, Das S, Dempsey MA, Gastier-Foster JM, Greinwald JH Jr, Hoffmann ML, Jeng LJ, Kenna MA, Khababa I, Lilley M, Mao R, Muralidharan K, Otani IM, Rehm HL, Schaefer F, Seltzer WK, Spector EB, Springer MA, Weck KE, Wenstrup RJ, Withrow S, Wu BL, Zariwala MA, Schrijver I. A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. Genet Med. 2007 Jul;9(7):413-26. [PMID: 17666888]

Rahman SM, Schroeder-Gloeckler JM, Janssen RC, Jiang H, Qadri I, Maclean KN, Friedman JE. CCAAT/enhancing binding protein beta deletion in mice attenuates inflammation, endoplasmic reticulum stress, and lipid accumulation in diet-induced nonalcoholic steatohepatitis. Hepatology. 2007 May;45(5):1108-17. [PMID: 17464987]

Rao KS, Fu Z, Albro M, Narayanan B, Baddam S, Lee HJ, Kim JJ, Frerman FE. The effect of a Glu370Asp mutation in glutaryl-CoA dehydrogenase on proton transfer to the dienolate intermediate. Biochemistry. 2007 Dec;46(50):14468-77. [PMID: 18020372]

Redmond DE Jr, Bjugstad KB, Teng YD, Ourednik V, Ourednik J, Wakeman DR, Parsons XH, Gonzalez R, Blanchard BC, Kim SU, Gu Z, Lipton SA, Markakis EA, Roth RH, Elsworth JD, Sladek JR Jr, Sidman RL, Snyder EY. Behavioral improvement in a primate Parkinson's model is associated with multiple homeostatic effects of human neural stem cells. Proc Natl Acad Sci USA. 2007 Jul;104(29):12175-80. [PMID: 17586681]

Schwan BC, Wang XL, Mikael LG, Wu Q, Cohn J, Jiang H, Maclean KN, Rozen R. Betaine supplementation improves the atherogenic risk factor profile in a transgenic mouse model of hyperhomocysteinemia. Atherosclerosis. 2007 Dec;195(2):e100-7. [PMID: 17689540]

Spritz RA. The genetics of generalized vitiligo and associated autoimmune diseases. Pigment Cell Res. 2007 Aug;20(4):271-8. [PMID: 17630960]

Spritz RA, Arnold TD, Buonocore S, Carter D, Fingerlin T, Odero WW, Wambani JO, Tenge RK, Weatherly-White RC. Distribution of orofacial clefts and frequent occurrence of an unusual cleft variant in the Rift Valley of Kenya. Cleft Palate Craniofac J. 2007 Jul;44(4):374-7. [PMID: 17608554]

Stellmer F, Keyser B, Burckhardt BC, Koepsell H, Streichert T, Glatzel M, Jabs S, Thiem J, Herdering W, Koeller DM, Goodman SI, Lukacs Z, Ullrich K, Burckhardt G, Braulke T, Muhlhausen C. 3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3. J Mol Med. 2007 Jul;85(7):763-70. [PMID: 17356845]

Thomas JA, Van Hove JLK. Inborn errors of metabolism. In: Hay WW Jr, Levin MJ, Sondheimer JM, Deterding RR, editors. Current pediatric diagnosis and treatment. 18th ed. New York: McGraw Hill; 2007.

Tsai AC, Morel CF, Scharer G, Yang M, Lerner-Ellis JP, Rosenblatt DS, Thomas JA. Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance. Am J Med Genet A. 2007 Oct;143A(20):2430-4. [PMID: 17853453]

Vyletal P, Sokolova J, Cooper DN, Kraus JP, Krawczak M, Pepe G, Rickards O, Koch HG, Linnebank M, Kluijtmans LA, Blom HJ, Boers GH, Gaustadnes M, Skovby F, Wilcken B, Wilcken DE, Andria G, Sebastio G, Naughten ER, Yap S, Ohura T, Pronicka E, Laszlo A, Kozich V. Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion. Hum Mutat. 2007 Mar;28(3):255-64. [PMID: 17072863]

Woontner M, Goodman SI. Chromatographic analysis of amino and organic acids in physiological fluids to detect inborn errors of metabolism. In: Haines JL, Korf BR, Morton CC, Seidman CE, Seidman JG, Smith DR, editors. Current protocols in human genetics. Supp 51, Vol 4. New York: Wiley; 2007.

Yetman AT, Beroukhim RS, Ivy DD, Manchester D. Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period. Pediatrics. 2007 May;119(5):e1199-202. [PMID: 17470566]

Zinnanti WJ, Lazovic J, Housman C, LaNoue K, O'Callaghan JP, Simpson I, Woontner M, Goodman SI, Connor JR, Jacobs RE, Cheng KC. Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I. J Clin Invest. 2007 Nov;117(11):3258-70. [PMID: 17932566]

2006

Adam MP, Schelley S, Gallagher R, Brady AN, Barr K, Blumberg B, Shieh JT, Graham J, Slavotinek A, Martin M, Keppler-Noreuil K, Storm AL, Hudgins L. Clinical features and management issues in Mowat-Wilson syndrome. Am J Med Genet. 2006 Dec;140(24):2730-41. [PMID: 17103451]

Bams-Mengerink AM, Majoie CB, Duran M, Wanders RJ, Van Hove J, Scheurer CD, Barth PG, Poll-The BT. MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata. Neurology. 2006 Mar;66(6):798-03; discussion 789. [PMID: 16567694]

Bermudez M, Frank N, Bernal J, Urreizti R, Briceno I, Merinero B, Perez-Cerda C, Ugarte M, Grinberg D, Balcells S, Kraus JP. High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia. Hum Mutat. 2006 Mar;27(3):296. [PMID: 16470595]

Bjugstad KB, Crnic LS, Goodman SI, Freed CR. Infant mice with glutaric acidaemia type I have increased vulnerability to 3-nitropropionic acid toxicity. J Inherit Metab Dis. 2006 Oct;29(5):612-9. [PMID: 16944278]

Deignan JL, Livesay JC, Yoo PK, Goodman SI, O'Brien WE, Iyer RK, Cederbaum SD, Grody WW. Ornithine deficiency in the arginase double knockout mouse. Mol Genet Metab. 2006 Sep-Oct;89(1-2):87-96. [PMID: 16753325]

Du Y, Davisson MT, Kafadar K, Gardiner K. A-to-I pre-mRNA editing of the serotonin 2C receptor: Comparisons among inbred mouse strains. Gene. 2006 Nov;382:39-46. [PMID: 16904273]

Fain PR, Babu SR, Bennett DC, Spritz RA. HLA class II haplotype DRB1*04-DQB1*0301 contributes to risk of familial generalized vitiligo and early disease onset. Pigment Cell Res. 2006 Feb;19(1):51-7. [PMID: 16420246]

Frank N, Kery V, Maclean KN, Kraus JP. Solvent-accessible cysteines in human cystathionine beta-synthase: crucial role of cysteine 431 in S-adenosyl-L-methionine binding. Biochemistry (Mosc). 2006 Sep;45(36):11021-9. [PMID: 16953589]

Gardiner K. Transcriptional dysregulation in Down syndrome: predictions for altered protein complex stoichiometries and post-translational modifications, and consequences for learning/behavior genes ELK, CREB, and the estrogen and glucocorticoid receptors. Behav Genet. 2006 May;36(3):439-53. [PMID: 16502135]

Gardiner K, Costa AC. The proteins of human chromosome 21. Am J Med Genet C Semin Med Genet. 2006 Aug;142C(3):196-205. [PMID: 17048356]

Gardiner K, Du Y. A-to-I editing of the 5HT2C receptor and behavior. Brief Funct Genomic Proteomic. 2006 Mar;5(1):37-42. Review. [PMID: 16769676]

Gatlin JC, Estrada-Bernal A, Sanford SD, Pfenninger KH. Myristoylated, alanine-rich C-kinase substrate phosphorylation regulates growth cone adhesion and pathfinding . Mol Biol Cell. 2006 Dec;17(12):5115-30. [PMID: 16987960]

Katsushima F, Oliveriusova J, Sakamoto O, Ohura T, Kondo Y, Linuma K, Kraus E, Stouracova R, Kraus JP. Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria. Mol Genet Metab. 2006 Apr;87(4):323-8. [PMID: 16307898]

Kishnani PS, Nicolino M, Voit T, Rogers RC, Tsai AC, Waterson J, Herman GE, Amalfitano A, Thurberg BL, Richards S, Davison M, Corzo D, Chen YT. Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr. 2006;149(1):89-97. [PMID: 16860134]

Kraus DM, Elliott GS, Chute H, Horan T, Pfenninger KH, Sanford SD, Foster S, Scully S, Welcher AA, Holers VM. CSMD1 is a novel multiple domain complement-regulatory protein highly expressed in the central nervous system and epithelial tissues. J Immunol. 2006 Apr;176(7):4419-30. [PMID: 16547280]

Ma’ayan A, Gardiner K, Iyengar R. The cognitive phenotype of Down syndrome: Insights from intracellular network analysis. NeuroRx. 2006 Jul;3(3):396-406. Review. [PMID: 16815222]

Magera MJ, Gunawardena ND, Hahn SH, Tortorelli S, Mitchell GA, Goodman SI, Rinaldo P, Matern D. Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I. Mol Genet Metab. 2006 May;88(1):16-21. [PMID: 16448836]

Rao KS, Albro M, Dwyer TM, Frerman FE. Kinetic mechanism of glutaryl-CoA dehydrogenase. Biochemistry. 2006 Dec;45(51):15853-61. [PMID: 17176108]

Santiago Borrero PJ, Rodríguez-Pérez Y, Renta JY, Izquierdo NJ, Del Fierro L, Muñoz D, Molina NL, Ramírez S, Pagán-Mercado G, Ortíz I, Rivera-Caragol E, Spritz RA, Cadilla CL. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. J Invest Dermatol. 2006 Jan;126(1):85-90. [PMID: 16417222]

Sauer SW, Okun JG, Fricker G, Mahringer A, Muller I, Crnic LR, Muhlhausen C, Hoffmann GF, Horster F, Goodman SI, Harding CO, Koeller DM, Kolker S. Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency. J Neurochem. 2006 May;97(3):899-910. [PMID: 16573641]

Sosa L, Dupraz S, Laurino L, Bollati F, Bisbal M, Caceres A, Pfenninger KH, Quiroga S. IGF-1 receptor is essential for the establishment of hippocampal neuronal polarity. Nat Neurosci. 2006 Aug;9(8):993-5. [PMID: 16845384]

Spritz RA. Out, damned spot! J Invest Dermatol. 2006 May;126(5):949-51. [PMID: 16619012]

Spritz RA. The genetics of generalized vitiligo and associated autoimmune diseases. J Dermatol Sci. 2006 Jan;41(1):3-10. [PMID 16289692]

Struys EA, Verhoeven NM, Salomons GS, Berthelot J, Vianay-Saban C, Chabrier S, Thomas JA, Tsai AC, Gibson KM, Jakobs C. d-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: Genetic coincidence or a related biochemical epiphenomenon? Mol Genet Metab. 2006 May;88(1):53-7. [PMID: 16442322]

Teng W, Shan Z, Teng X, Guan H, Li Y, Teng D, Jin Y, Yu X, Fan C, Chong W, Yang F, Dai H, Yu Y, Li J, Chen Y, Zhao D, Shi X, Hu F, Mao J, Gu X, Yang R, Tong Y, Wang W, Gao T, Li C. Effect of iodine intake on thyroid diseases in China. N Engl J Med. 2006 Jun;354(26):2783-93. [PMID: 16807415]

Thomas JA, Jacobs S, Kierstein J, Van Hove J. Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome. J Inherit Metab Dis. 2006 Dec;29(6):762. [PMID: 17089217]

Thurberg BL, Lynch CM, Vaccaro C, Afonso K, Tsai AC, Bossen E, Kishnani PS, O'Callaghan M. Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease. Lab Invest. 2006 Dec;86(12):1208-20. [PMID: 17075580]

Tsai AC, Fine CA, Yang M, Walton CS, Beischel L, Johnson JP. De novo isodicentric X chromosome: 46,X,idic(X)(q24), and summary of literature. Am J Med Genet A. 2006 Apr;140(8):923-30. [PMID: 16528747]

Urban TJ, Gallagher RC, Brown C, Castro RA, Lagpacan LL, Brett CM, Taylor TR, Carlson EJ, Ferrin TE, Burchard EG, Packman S, Giacomini KM. Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5). Mol Pharmacol. 2006 Nov;70(5):1602-11. [PMID: 16931768]

Van Hove JL, Steyaert J, Matthijs G, Legius E, Theys P, Wevers R, Romstad A, Moller LB, Hedrich K, Goriounov D, Blau N, Klein C, Casaer P. Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency. J Neurol Neurosurg Psychiatry. 2006 Jan;77(1):18-23. [PMID: 16361586]

Wang D, Wei Y, Schmoll D, Maclean KN, Pagliassotti MJ. Endoplasmic reticulum stress increases glucose-6-phosphatase and glucose cycling in liver cells. Endocrinology. 2006 Jan;147(1):350-8. [PMID: 16223860]

Wang XX, Pfenninger KH. Functional analysis of SIRPalpha in the growth cone. J Cell Sci. 2006 Jan;119(Pt 1):172-83. [PMID: 16371655]

Woontner M, Goodman SI. Chromatographic analysis of amino and organic acids in physiological fluids to detect inborn errors of metabolism. Curr Protoc Hum Genet. 2006 Nov;Chapter 17:Unit 17.2. Review. [PMID: 18428392]

Zhang J, Frerman FE, Kim JJ. Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool. Proc Natl Acad Sci USA. 2006 Oct;103(44):16212-7. [PMID: 17050691]

Zinnanti WJ, Lazovic J, Wolpert EB, Antonetti DA, Smith MB, Connor JR, Woontner M, Goodman SI, Cheng KC. A diet-induced mouse model for glutaric aciduria type I. Brain. 2006 Apr;129(Pt 4):899-910. [PMID: 16446282]

Zinnanti WJ, Lazovic J, Wolpert EB, Antonetti DA, Smith MB, Connor JR, Woontner M, Goodman SI, Cheng KC. New insights for glutaric aciduria type I. Brain. 2006 Aug;129(Pt 8):e55. [PMID: 16870880]


2005

Acosta PB, Yannicelli S, Ryan AS, Arnold G, Marriage BJ, Plewinska M, Bernstein L, Fox J, Lewis V, Miller M, Velazquez A. Nutritional therapy improves growth and protein status of children with a urea cycle enzyme defect. Mol Genet Metab. 2005 Dec;86(4):448-55. [PMID: 16260164]

Alkhateeb A, Fain PR, Spritz RA. Candidate functional promoter variant in the FOXD3 melanoblast developmental regulator gene in autosomal dominant vitiligo. J Invest Dermatol. 2005 Aug;125(2):388-91. [PMID: 16098053]

Bar-Or D, Rael LT, Thomas GW, Kraus JP. Inhibitory effect of copper on cystathionine beta-synthase activity: protective effect of an analog of the human albumin N-terminus. Protein Pept Lett. 2005 Apr;12(3):271-3. [PMID: 15777277]

Bernacki SH, Beck JC, Stankovic AK, Williams LO, Amos J, Snow-Bailey K, Farkas DH, Friez MJ, Hantash FM, Matteson KJ, Monaghan KG, Muralidharan K, Pratt VM, Prior TW, Richie KL, Levin BC, Rohlfs EM, Schaefer FV, Shrimpton AE, Spector EB, Stolle CA, Strom CM, Thibodeau SN, Cole EC, Goodman BK, Stenzel TT. Genetically characterized positive control cell lines derived from residual clinical blood samples. Clin Chem. 2005 Nov;51(11):2013-24. [PMID: 16166172]

Bernstein LB. PKU phenylalanine and metabolic syndrome. ADA Nutrition Care Manual; 2005. www.nutritioncaremanual.org

Chintala S, Li W, Lamoreux ML, Ito S, Wakamatsu K, Sviderskaya EV, Bennett DC, Park YM, Gahl WA, Huizing M, Spritz RA, Ben S, Novak EK, Tan J, Swank RT. Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells. Proc Natl Acad Sci U S A. 2005 Aug 2;102(31):10964-9. [PMID: 16037214]

Cortes-Hernandez P, Dominguez-Ramirez L, Estrada-Bernal A, Montes-Sanchez DG, Zentella-Dehesa A, de Gomez-Puyou MT, Gomez-Puyou A, Garcia JJ. The inhibitor protein of the F1F0-ATP synthase is associated to the external surface of endothelial cells. Biochem Biophys Res Commun. 2005 May 13;330(3):844-9. [PMID: 15809073]

Elias ER, Tsai ACH, Manchester DK. Genetics and dysmorphology. In: Hay WW Jr., Hayward AR, Levin ML, Sondheimer JM, Deterding RR, editors. Current pediatric diagnosis and treatment. 17th ed. New York: McGraw Hill; 2005.

Gallagher RC, Cowan TM, Goodman SI, Enns GM. Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed. Mol Genet Metab. 2005 Nov;86(3):417-20. [PMID: 16183314]

Greene CL, Thomas JA, Goodman SI. Inborn errors of metabolism. In: Hay WW Jr., Hayward AR, Levin ML, Sondheimer JM, Deterding RR, editors. Current pediatric diagnosis and treatment. 17th ed. New York: McGraw Hill; 2005.

Ito S, Suzuki T, Inagaki K, Suzuki N, Takamori K, Yamada T, Nakazawa M, Hatano M, Takiwaki H, Kakuta Y, Spritz RA, Tomita Y. High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. J Invest Dermatol. 2005 Oct;125(4):715-20. [PMID: 16185271]

Jiang H, Rao KS, Yee VC, Kraus JP. Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli. J Biol Chem. 2005 Jul 29;280(30):27719-27. [PMID: 15890657]

Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet. 2005 Apr;76(4):609-22. [PMID: 15739154]

Kreider JC, Blumberg MS. Geotaxis and beyond: commentary on Motz and Alberts (2005). Neurotoxicol Teratol. 2005 Jul-Aug;27(4):535-7; author reply 543-4. [PMID: 16039096]

Laberge G, Mailloux CM, Gowan K, Holland P, Bennett DC, Fain PR, Spritz RA. Early disease onset and increased risk of other autoimmune diseases in familial generalized vitiligo. Pigment Cell Res. 2005 Aug;18(4):300-5. [PMID: 16029422]

Laurino L, Wang XX, de la Houssaye BA, Sosa L, Dupraz S, Caceres A, Pfenninger KH, Quiroga S. PI3K activation by IGF-1 is essential for the regulation of membrane expansion at the nerve growth cone. J Cell Sci. 2005 Aug 15;118(Pt 16):3653-62. [PMID: 16046480]

Mendoza-Milla C, Machuca Rodriguez C, Cordova Alarcon E, Estrada Bernal A, Toledo-Cuevas EM, Martinez Martinez E, Zentella Dehesa A. NF-kappaB activation but not PI3K/Akt is required for dexamethasone dependent protection against TNF-alpha cytotoxicity in L929 cells. FEBS Lett. 2005 Jul 18;579(18):3947-52. [PMID: 16000198]

Pauliks LB, Chan KC, Lorts A, Elias ER, Cayre RO, Valdes-Cruz LM. Shprintzen-Goldberg syndrome with tetralogy of fallot and subvalvar aortic stenosis. J Ultrasound Med. 2005 May;24(5):703-6. [PMID: 15840802]

Pazicni S, Cherney MM, Lukat-Rodgers GS, Oliveriusova J, Rodgers KR, Kraus JP, Burstyn JN. The heme of cystathionine beta-synthase likely undergoes a thermally induced redox-mediated ligand switch. Biochemistry. 2005 Dec 27;44(51):16785-95. [PMID: 16363792]

Rao KS, Albro M, Zirrolli JA, Vander Velde D, Jones DN, Frerman FE. Protonation of crotonyl-CoA dienolate by human glutaryl-CoA dehydrogenase occurs by solvent-derived protons. Biochemistry. 2005 Oct 25;44(42):13932-40. [PMID: 16229482]

Sauer SW, Okun JG, Schwab MA, Crnic LR, Hoffmann GF, Goodman SI, Koeller DM, Kolker S. Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A. J Biol Chem. 2005 Jun 10;280(23):21830-6. [PMID: 15840571]

Seneca S, Goemans N, Van Coster R, Givron P, Reybrouck T, Sciot R, Meulemans A, Smet J, Van Hove JL. A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy. Am J Med Genet A. 2005 Aug 30;137(2):170-5. [PMID: 16059939]

Sonko BJ, Fennessey PV, Donnelly JE, Bessesen D, Sharp TA, Jacobsen DJ, Jones RH, Hill JO. Ingested fat oxidation contributes 8% of 24-h total energy expenditure in moderately obese subjects. J Nutr. 2005 Sep;135(9):2159-65. [PMID: 16140892]

Spector EB, Grody WW, Matteson CJ, Palomaki GE, Bellissimo DB, Wolff DJ, Bradley LA, Prior TW, Feldman G, Popovich BW, Watson MS, Richards CS. Technical standards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin 20210G >A testing): a disease-specific supplement to the standards and guidelines for clinical genetics laboratories. Genet Med. 2005 Jul-Aug;7(6):444-53. [PMID: 16024978]

Spritz RA. The genetics of generalized vitiligo and associated autoimmune diseases. J Dermatol Sci. 2006 Jan;41(1):3-10. [PMID: 16289692]

Sun L, Eklund EA, Van Hove JL, Freeze HH, Thomas JA. Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient. Am J Med Genet A. 2005 Aug 15;137(1):22-6. [PMID: 16007612]

Thomas JA, Greene CL, Cohn RM. Lysosomal storage, peroxisomal, and glycosylation disorders and Smith-Lemli-Opitz syndrome presenting in the newborn. In: Taeusch HW, Ballard RA, editors. Avery's diseases of the newborn. 8th ed. Philadelphia, Pennsylvania: Elsevier Saunders; 2005.

Tsai AC, Digiovanni M, Walton C, Cotter PD. De novo duplication of the short arm of chromosome 12: dup(12)(p13.1p13.3). Am J Med Genet A. 2005 Apr 15;134(2):229-30. [PMID: 15633165]

Van Hove JL, Jaeken J, Proesmans M, Boeck KD, Minner K, Matthijs G, Verbeken E, Demunter A, Boogaerts M. Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome. Am J Med Genet A. 2005 Jan 15;132(2):152-8. [PMID: 15558713]

Van Hove JL, Vande Kerckhove K, Hennermann JB, Mahieu V, Declercq P, Mertens S, De Becker M, Kishnani PS, Jaeken J. Benzoate treatment and the glycine index in nonketotic hyperglycinaemia. J Inherit Metab Dis. 2005;28(5):651-63. [PMID: 16151895]