Recent Publications

DeBarber A, Luo J, Star-Weinstock M, Purkayastha S, Geraghty M, Chiang J, Merkens L, Pappu A, Steiner RD. A blood test for Cerebrotendinous Xanthomatosis with potential for disease detection in newborns. J Lipid Res. 2014;55:146-54. PMID: 24186955.

Doers ME, Musser MT, Nichol R, Berndt ER, Baker M, Gomez TM, Zhang SC, Abbeduto L, Bhattacharyya A. iPSC-derived forebrain neurons from FXS individuals show defects in initial neurite outgrowth. Stem Cells Dev. 2014 Aug 1;23(15):1777-87. Epub 2014 Apr 30. PMID: 24654675.

Fitzgerald J, Holden P, Wright H, Wilmot B, Hata A, Steiner RD, Basel D. Phenotypic variability in individuals with type V osteogenesis imperfect with identical ifitms5 mutations. J Rare Disorders. 2014;1:37-42.

Giampietro PF, Armstrong L, Stoddard A, Blank RD, Livingston J, Raggio CL, Rasmussen K, Pickart M, Lorier R, Turner A, Sund S, Sobrera N, Neptune E, Sweetser D, Santiago-Cornier A, Broeckel U. Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes. Am J Med Genet A. 2015 Jan;167(1):95-102. Epub 2014 Oct 27. PMID: 25348728.

Giampietro PF, Raggio CL, Blank RD. Heterozygous mutations in the T (brachyury) gene. J Med Genet. 2014 May;51(5):354. Epub 2014 Feb 20. PMID: 24556085.

Giampietro PF. CORR Insights®: Are copy number variants associated with adolescent idiopathic scoliosis? Clin Orthop Relat Res. 2014 Oct;472(10):3226-7. Epub 2014 Jul 29. No abstract available. PMID: 25070916.

Giordimaina AM, Sheldon JP, Petty EM. Anticipated motivation for genetic testing among smokers, nonsmokers, and former smokers: an exploratory qualitative study of decision making. Public Health Genomics. 2014;17(4):228-39. Epub 2014 Jul 19. PMID: 25059656.

Held PK, Haynes CA, De Jesús VR, Baker MW. Development of an assay to simultaneously measure orotic acid, amino acids, and acylcarnitines in dried blood spots. Clin Chim Acta. 2014 Sep 25;436:149-54. Epub 2014 Jun 2. PMID: 24886687.

Hood A, Grange DK, Christ SE, Steiner R, White DA. Variability in phenylalanine control predicts IQ and executive abilities in children with phenylketonuria. Mol Genet Metab. 2014 Apr;111(4):445-51. Epub 2014 Jan 31. PMID: 24568837.

Hoover-Fong J, Sobreira N, Jurgens J, Modaff P, Blout C, Moser A, Kim OH, Cho TJ, Cho SY, Kim SJ, Jin DK, Kitoh H, Park WY, Ling H, Hetrick KN, Doheny KF, Valle D, Pauli RM. Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy. Am J Hum Genet. 2014 Jan 2;94(1):105-12. PMID: 24387990.

Jain A, Petty EM, Jaber RM, Tackett S, Purkiss J, Fitzgerald J, White C. What is appropriate to post on social media? Ratings from students, faculty members and the public. Med Educ. 2014 Feb;48(2):157-69. PMID: 24528398.

Johnson LA, Olsen RH, Merkens LS, DeBarber A, Steiner RD, Sullivan PM, Maeda N, Raber J. Apolipoprotein E-low density lipoprotein receptor interaction affects spatial memory retention and brain ApoE levels in an isoform-dependent manner. Neurobiol Dis. 2014 Apr;64:150-62. Epub 2014 Jan 9. PMID: 24412220.

Kuhl A, Reiser C, Eickhoff J, Petty EM. Genetic counseling graduate student debt: impact on program, career and life choices. J Genet Couns. 2014 Oct;23(5):824-37. Epub 2014 Mar 1. PMID: 24578121.

Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, Baker M, Ballow M, Bartoshesky LE, Bonilla FA, Brokopp C, Brooks E, Caggana M, Celestin J, Church JA, Comeau AM, Connelly JA, Cowan MJ, Cunningham-Rundles C, Dasu T, Dave N, De La Morena MT, Duffner U, Fong CT, Forbes L, Freedenberg D, Gelfand EW, Hale JE, Hanson IC, Hay BN, Hu D, Infante A, Johnson D, Kapoor N, Kay DM, Kohn DB, Lee R, Lehman H, Lin Z, Lorey F, Abdel-Mageed A, Manning A, McGhee S, Moore TB, Naides SJ, Notarangelo LD, Orange JS, Pai SY, Porteus M, Rodriguez R, Romberg N, Routes J, Ruehle M, Rubenstein A, Saavedra-Matiz CA, Scott G, Scott PM, Secord E, Seroogy C, Shearer WT, Siegel S, Silvers SK, Stiehm ER, Sugerman RW, Sullivan JL, Tanksley S, Tierce ML 4th, Verbsky J, Vogel B, Walker R, Walkovich K, Walter JE, Wasserman RL, Watson MS, Weinberg GA, Weiner LB, Wood H, Yates AB, Puck JM, Bonagura VR. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA. 2014 Aug 20;312(7):729-38. Erratum in: JAMA. 2014 Nov 26;312(20):2169. Bonagura, Vincent R [Added]. PMID: 25138334.

Liu S, Wu N, Liu J, Ming X, Chen J, Pavelec D, Su X, Qiu G, Tian Y, Giampietro P, Wu Z. Novel ntrk1 frameshift mutation in congenital insensitivity to pain with anhidrosis. J Child Neurol. 2014 Oct 14. [Epub ahead of print] PMID: 25316729.

Londono D, Kou I, Johnson TA, Sharma S, Ogura Y, Tsunoda T, Takahashi A, Matsumoto M, Herring JA, Lam TP, Wang X, Tam EM, Song YQ, Fan YH, Chan D, Cheah KS, Qiu X, Jiang H, Huang D; Japanese Scoliosis Clinical Research Group, TSRHC IS Clinical Group, International Consortium for Scoliosis Genetics, Su P, Sham P, Cheung KM, Luk KD, Gordon D, Qiu Y, Cheng J, Tang N, Ikegawa S, Wise CA (Giampietro PF, collaborator). A meta-analysis identifies adolescent idiopathic scoliosis association with LBX1 locus in multiple ethnic groups. J Med Genet. 2014 Jun;51(6):401-6. Epub 2014 Apr 10. PMID: 24721834.

Longo N, Harding CO, Burton BK, Grange DK, Vockley J, Wasserstein M, Rice GM, Dorenbaum A, Neuenburg JK, Musson DG, Gu Z, Sile S. Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial. Lancet. 2014 Jul 5;384(9937):37-44. Epub 2014 Apr 14. PMID: 24743000.

Mailick MR, Hong J, Rathouz P, Baker MW, Greenberg JS, Smith L, Maenner M. Low-normal FMR1 CGG repeat length: phenotypic associations. Front Genet. 2014;5:309. PMID: 25250047.

Mercimek-Mahmutoglu S, Ndika J, Kanhai W, de Villemeur TB, Cheillan D, Christensen E, Dorison N, Hannig V, Hendriks Y, Hofstede FC, Lion-Francois L, Lund AM, Mundy H, Pitelet G, Raspall-Chaure M, Scott-Schwoerer JA, Szakszon K, Valayannopoulos V, Williams M, Salomons GS. Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene. Hum Mutat. 2014 Apr;35(4):462-9. Epub 2014 Mar 6. PMID: 24415674.

Musser ED, Hawkey E, Kachan-Liu SS, Lees P, Roullet JB, Goddard K, Steiner RD, Nigg JT. Shared familial transmission of autism spectrum and attention-deficit/hyperactivity disorders. J Child Psychol Psychiatry. 2014 Jul;55(7):819-27. Epub 2014 Jan 21. PMID: 24444366.

Nagy R, Peay H, Hicks M, Kloos J, Westman R, Conway L, Finucane B, Fitzpatrick J, Gordon E, Ramos E, Sekhon-Warren J, Silver J, Walton C, Reiser C. Genetic counselors' and genetic counseling students' attitudes around the clinical doctorate and other advanced educational options for genetic counselors: a report from the genetic counseling advanced degree task force. J Genet Couns. 2014 Oct 30. [Epub ahead of print] PMID: 25352337.

Othman RA, Myrie SB, Mymin D, Merkens LS, Roullet JB, Steiner RD, Jones PJ. Ezetimibe reduces plant sterol accumulation and favorably increases platelet count in sitosterolemia. J Pediatr. 2015 Jan;166(1):125-31. Epub 2014 Oct 16. PMID: 25444527.

Scott Schwoerer J, Laffin J, Haun J, Raca G, Friez MJ, Giampietro PF. MECP2 duplication: possible cause of severe phenotype in females. Am J Med Genet A. 2014 Apr;164A(4):1029-34. Epub 2014 Jan 23. PMID: 24458799.

Singh RH, Rohr F, Frazier D, Cunningham A, Mofidi S, Ogata B, Splett PL, Moseley K, Huntington K, Acosta PB, Vockley J, Van Calcar SC. Recommendations for the nutrition management of phenylalanine hydroxylase deficiency. Genet Med. 2014 Feb;16(2):121-31. Epub 2014 Jan 2. Review. PMID: 24385075.

Van Calcar SC, Bernstein LE, Rohr FJ, Scaman CH, Yannicelli S, Berry GT. A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia. Mol Genet Metab. 2014 Jul;112(3):191-7. Epub 2014 May 2. PMID: 24857409.

Van Calcar SC, Bernstein LE, Rohr FJ, Yannicelli S, Berry GT, Scaman CH. Galactose content of legumes, caseinates, and some hard cheeses: implications for diet treatment of classic galactosemia. J Agric Food Chem. 2014 Feb 12;62(6):1397-402. Epub 2014 Feb 3. PMID: 24456566.

Wilson GR, Sim JC, McLean C, Giannandrea M, Galea CA, Riseley JR, Stephenson SE, Fitzpatrick E, Haas SA, Pope K, Hogan KJ, Gregg RG, Bromhead CJ, Wargowski DS, Lawrence CH, James PA, Churchyard A, Gao Y, Phelan DG, Gillies G, Salce N, Stanford L, et al. Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology. Am J Hum Genet. 2014 Dec 4;95(6):729-35. Epub 2014 Nov 26. PMID: 25434005.