Center for Clinical Genetics
and Genomics

Recent Publications

AlAsiri S, Basit S, Wood-Trageser MA, Yatsenko SA, Jeffries EP, Surti U, Ketterer DM, Afzal S, Ramzan K, Faiyaz-Ul Haque M, Jiang H, Trakselis MA, Rajkovic A. Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability. J Clin Invest. 2015. PMCID: PMC4382257.

Wood-Trageser MA, Gurbuz F, Yatsenko SA, Jeffries EP, Kotan LD, Surti U, Ketterer DM, Matic J, Chipkin J, Jiang H, Trakselis MA, Topaloglu AK, Rajkovic A. MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability. Am J Hum Genet. 2014.  PMID: 25480036; PubMed Central PMCID: PMC4259971.

Yatsenko AN, Georgiadis AP, Röpke A, Berman AJ, Jaffe T, Olszewska M, Westernströer B, Sanfilippo J, Kurpisz M, Rajkovic A, Yatsenko SA, Kliesch S, Schlatt S, Tüttelmann F. X-linked TEX11  mutations, meiotic arrest, and azoospermia in infertile men. N Engl J Med. 2015. PMID: 25970010; PubMed Central PMCID: PMC4470617.

Yatsenko SA, Bakos HA, Vitullo K, Kedrov M, Kishore A, Jennings BJ, Surti U, Wood-Trageser MA, Cercone S, Yatsenko AN, Rajkovic A, Iannaccone A. High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy. Clin Genet. 2016. PMID: 26153062. PubMed Central PMCID: PMC4758204.

Hu J, Liao J, Sathanoori M, Kochmar S, Sebastian J, Yatsenko SA, Surti U. CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders. J Neurodev Disord. 2015. PMID: 26257835; PubMed Central PMCID: PMC4528395.

Mittal P, Shin YH, Yatsenko SA, Castro CA, Surti U, Rajkovic A. Med12 gain-of-function mutation causes leiomyomas and genomic instability. J Clin Invest. 2015.  PMID: 26193636; PubMed Central PMCID: PMC4563761.

Dobrowolski SF, Lyons-Weiler J, Spridik K, Biery A, Breck J, Vockley J, Yatsenko S, Sultana T. Altered DNA methylation in PAH deficient phenylketonuria.  Mol Genet Metab. 2015 PubMed PMID: 25990862.

Peterson JF, Aggarwal N, Smith CA, Gollin SM, Surti U, Rajkovic A, Swerdlow SH, Yatsenko SA. Integration of microarray analysis into the clinical diagnosis of hematological malignancies: How much can we improve cytogenetic testing? Oncotarget. 2015 PMID: 26299921; PubMed Central PMCID: PMC4662459.

Chu T, Yeniterzi S, Yatsenko SA, Dunkel M, Rajkovic A, Hogge WA, Peters DG. Cell-free nucleic acids as non-invasive biomarkers of gynecological disorders, fetal aneuploidy and constitutional maternal chromosomal mosaicism. Hum Reprod Update. 2015 PubMed PMID: 25765864.

Yatsenko SA, Davis S, Hendrix NW, Surti U, Emery S, Canavan T, Speer P, Hill  L, Clemens M, Rajkovic A. Application of chromosomal microarray in the evaluation of abnormal prenatal findings. Clin Genet. 2013. PubMed PMID: 23020214.

Yatsenko SA, Peters DG, Saller DN, Chu T, Clemens M, Rajkovic A. Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up. Genet Med. 2015. PMID: 25569438; PubMed Central PMCID: PMC4496325.

Kalynchuk EJ, Althouse A, Parker LS, Saller DN Jr, Rajkovic A. Prenatal whole-exome sequencing: parental attitudes. Prenat Diagn. 2015. PubMed PMID: 26151551.

Bachman KK, DeWard SJ, Chrysostomou C, Munoz R, Madan-Khetarpal S. Array CGH as a first-tier test for neonates with congenital heart disease. Cardiol Young. 2015.PMID: 24192140.

Bodian DL, Klein E, Iyer RK, Wong WS, Kothiyal P, Stauffer D, Huddleston KC, Gaither AD, Remsburg I, Khromykh A, Baker RL, Maxwell GL, Vockley J, Niederhuber JE, Solomon BD. (2015). Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates. Genet Med. 2016;18(3):221-30.

Celik N, Squires RH, Vockley J, Sindhi R, Mazariegos G. (2016). Liver transplantation for maple syrup urine disease: A global domino effect. Pediatr Transplant. 20: 350-1.

Chauhan BK, Hoover JM, Scanga H, Medsinge A, Arnold GL, Nischal KK.  Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation.Plast Reconstr Surg Glob Open. 2015 Jul 8;3(6):e427.

Dobrowolski SF, Lyons-Weiler J, Spridik K, Biery A, Breck J, Vockley J, Yatsenko S, Sultana T. (2015). Altered DNA methylation in PAH deficient phenylketonuria. Mol Genet Metab. 115: 72-7.

Dobrowolski SF, Lyons-Weiler J, Spridik K, Vockley J, Skvorak K, Biery A. (2016). DNA methylation in the pathophysiology of hyperphenylalaninemia in the PAH mouse model of phenylketonuria. Mol Genet Metab. 119: 1-7.

Edmunds LR, Otero PA, Sharma L, D’Souza S, Dolezal JM, David S, Lu J, Lamm L, Basantani M, Zhang P, Sipula IJ, Li L, Zeng X, Ding Y, Ding F, Beck ME, Vockley J, Monga SP, Kershaw EE, O’Doherty RM, Kratz LE, Yates NA, Goetzman EP, Scott D, Duncan AW, Prochownik EV. (2016). Abnormal lipid processing but normal long-term repopulation potential of myc-/- hepatocytes. Oncotarget. 7: 30379-95.

Edmunds LR, Sharma L, Kang A, Lu J, Vockley J, Basu S, Uppala R, Goetzman ES, Beck ME, Scott D, Prochownik EV. (2015). c-Myc programs fatty acid metabolism and dictates acetyl-CoA abundance and fate. J Biol Chem. 290: 20100.

Forsyth R, Vockley CW, Edick MJ, Cameron CA, Hiner SJ, Berry SA, Vockley J, Arnold GL, Inborn Errors of Metabolism C. (2016). Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency – Report from the Inborn Errors of Metabolism Information System. Mol Genet Metab. 118: 15-20.

Ghaloul-Gonzalez L, Goldstein A, Walsh Vockley C, Dobrowolski SF, Biery A, Irani A, Ibarra J, Morton DH, Mohsen AW, Vockley J. (2016). Mitochondrial respiratory chain disorders in the Old Order Amish population. Mol Genet Metab. 118: 296-303.

Haack TB, Staufner C, Kopke MG, Straub BK, Kolker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Kuhr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Zschocke J, Kremer LS, Graf E, Schwarzmayr T, Bader DM, Gagneur J, Wieland T, Terrile C, Strom TM, Meitinger T, Hoffmann GF, Prokisch H. (2015). Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. Am J Hum Genet. 97: 163-9.

Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley JA, Longo N, Nagamani SC, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Cederbaum S, Wong D, Merritt JL, 2nd, Schulze A, Vockley J, Kronn D, Zori R, Summar M, Milikien DA, Marino M, Coakley DF, Mokhtarani M, Scharschmidt BF. (2015). Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder. Genet Med. 17: 561-8.

McCoin CS, Piccolo BD, Knotts TA, Matern D, Vockley J, Gillingham MB, Adams SH. (2016). Unique plasma metabolomic signatures of individuals with inherited disorders of long-chain fatty acid oxidation. J Inherit Metab Dis. 39: 399-408. PMC4851894.

Mohsen AW, Vockley J. Kinetic and spectral properties of isovaleryl-CoA dehydrogenase and interaction with ligands. Biochimie. (2015). 108: 108-19

Pan LA, Martin P, Zimmer T, Segreti AM, Kassiff S, McKain BW, Baca CA, Rengasamy M, Hyland K, Walano N, Steinfeld R, Hughes M, Dobrowolski SK, Pasquino M, Diler R, Perel J, Finegold DN, Peters DG, Naviaux RK, Brent DA, Vockley J. (2016). Neurometabolic Disorders: Potentially Treatable Abnormalities in Patients With Treatment-Refractory Depression and Suicidal Behavior. American Journal of Psychiatry. appi.ajp.2016.1.

Pena LD, van Calcar SC, Hansen J, Edick MJ, Walsh Vockley C, Leslie N, Cameron C, Mohsen AW, Berry SA, Arnold GL, Vockley J. (2016). Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database. Mol Genet Metab. 118: 272-81. PMC4970910.

Prabhu D, Goldstein AC, El-Khoury R, Rak M, Edmunds L, Rustin P, Vockley J, Schiff M. (2015). ANT2-defective fibroblasts exhibit normal mitochondrial bioenergetics. Mol Genet Metab Rep. 3: 43-6.

Schiff M, Haberberger B, Xia C, Mohsen AW, Goetzman ES, Wang Y, Uppala R, Zhang Y, Karunanidhi A, Prabhu D, Alharbi H, Prochownik EV, Haack T, Haberle J, Munnich A, Rotig A, Taylor RW, Nicholls, RD, Kim JJ, Prokisch H, Vockley, J. Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency. Hum Mol Genet. (2015). 24: 3238-47.

Shneider BL, Morris A, Vockley J. (2016). Possible Phenylacetate Hepatotoxicity During 4-Phenylbutyrate Therapy of Byler Disease. J Pediatr Gastroenterol Nutr. 62: 424-8.

Sonnet SD, O’ Leary NM, Gutierrez AM, Nguyen MS, Mateen S, Hsu Y, Mitchell PK, Lopez JA, Vockley J, Kennedy K, Ramanathan A. (2016). Metformin inhibits Branched Chain Amino Acid (BCAA) derived ketoacidosis and promotes metabolic homeostasis in MSUD. Scientific reports. 6: 28775. PMC4931503.

Staufner C, Haack TB, Kopke MG, Straub BK, Kolker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Lenz D, Kuhr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Ozolek JA, Zschocke J, Kuster A, Dick A, Das AM, Wieland T, Terrile C, Strom TM, Meitinger T, Prokisch H, Hoffmann GF. (2016). Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts. J Inherit Metab Dis. 39: 3-16.

Vicini P, Fields O, Lai E, Litwack ED, Martin AM, Morgan TM, Pacanowski MA, Papaluca M, Perez OD, Ringel MS, Robson M, Sakul H, Vockley J, Zaks T, Dolsten M, Sogaard M. (2016). Precision medicine in the age of big data: The present and future role of large-scale unbiased sequencing in drug discovery and development. Clin Pharmacol Ther. 99: 198-207.

Vockley J, Bennett MJ, Gillingham MB.  Mitochondrial Fatty Acid Oxidation Disorders. in The Online Metabolic and Molecular Bases of Inherited Disease  Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson KM,  Mitchell G, Eds. (The McGraw-Hill Companies, Inc., New York, NY, 2016).

Vockley J, Charrow J, Ganesh J, Eswara M, Diaz GA, McCracken E, Conway R, Enns GM, Starr J, Wang R, Abdenur JE, Sanchez-de-Toledo J, Marsden D. (2016). Triheptanoin Treatment in Patients with Pediatric Cardiomyopathy Associated with Long Chain-Fatty Acid Oxidation Disorders. Mol Genet Metab. In Press.

Vockley J, Longo N, Andresen BS, Bennett MJ.  Mitochondrial Fatty Acid Oxidation Defects. in Pediatric Endocrinology and Inborn Errors of Metabolism  Sarafoglou K, Hoffman GF,  Roth K, Eds. (McGraw-Hill Companies, 2016),

Vockley J, Marsden D, McCracken E, DeWard S, Barone A, Hsu K, Kakkis E. (2015). Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment-A retrospective chart review. Mol Genet Metab. 116: 53-60. PMC4561603.

Wang W, Palmfeldt J, Mohsen AW, Gregersen N, Vockley J. (2016). Fasting Induces Prominent Proteomic Changes in Liver in Very Long Chain Acyl-CoA Dehydrogenase Deficient Mice. Biochem Biophys Reports. In Press.

Buitrago L, Rendon A, Liang Y, Simeoni I, Negri A; ThromboGenomics Consortium, Filizola M, Ouwehand WH, Coller BS.  (Bellissimo DB, member of ThromboGenomics Consortium). αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia. Proc Natl Acad Sci U S A. 2015.  PMID:25827233 PMCID PMC: 440318

Flood VH, Christopherson PA, Gill JC, Friedman KD, Haberichter SL, Bellissimo DB, Udani RA, Dasgupta M, Hoffmann RG, Ragni MV, Shapiro AD, Lusher JM, Lentz SR, Abshire TC, Leissinger C, Hoots WK, Manco-Johnson MJ, Gruppo RA, Boggio LN, Montgomery KT, Goodeve A, James PD, Lillicrap D, Peake I, and Montgomery RR.   Clinical and Laboratory Variability in a Cohort of Patients Diagnosed with Type 1 VWD in the United States Blood. 2016.  PMID:26862110.

Chu T, Yeniterzi S, Yatsenko SA, Dunkel M, Shaw P, Bunce K, Peters DG. High Levels of Sample-to-Sample Variation Confound Data Analysis for Non-Invasive Prenatal Screening of Fetal Microdeletions. PLoS One. 2016.  PMID:27249650

Dunning AM,…, Mai PL, … et al. Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. Nature Genetics 2016.  PMID:26928228

Silvestri V, … Mai PL, … et al. Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res 2016. PMID:26857456

Loud JT, Bremer RC, Mai PL, Peters JA, Giri N, Stewart DR, Greene MH, Alter BP, Savage SA. Research participant interest in primary, secondary, and incidental genomic findings. Genet Med 2016. PMID:27101135

Couch FJ, …, Mai PL, … et al. Identification of 4 novel susceptibility loci for estrogen receptor negative breast cancer. Nat Commun. 2016; 7:11375. PMID:27117709.

Lamont RE, Tan WH, Innes AM, Parboosingh JS, Schneidman-Duhovny D, Rajkovic A, Pappas J, Altschwager P, DeWard S, Fulton A, Gray KJ, Krall M, Mehta L, Rodan LH, Saller DN Jr, Steele D, Stein D, Yatsenko SA, Bernier FP, Slavotinek AM. Expansion of phenotype and genotypic data in CRB2-related syndrome. Eur J Hum Genet. 2016. PMID:27004616

Bregand-White J, Saller DN, Clemens M, Surti U, Yatsenko SA, Rajkovic A. (2016) Genotype-Phenotype Correlation and Pregnancy Outcomes of Partial Trisomy 14q: A Systematic Review. American Journal of Medical Genetics. 2016.  PMID: 27286879

Grive KJ, Gustafson EA, Seymour KA, Baddoo M, Schorl C, Golnoski K, Rajkovic A, Brodsky AS, Freiman. TAF4b Regulates Oocyte-Specific Genes Essential for Meiosis. PLOS Genetics. 2016. PMID:27341508

Yatsenko SA, Mittal P, Wood-Trageser MA, Jones MW, Surti U, Edwards RP, Sood AK, Rajkovic A. Highly heterogeneous genomic landscape of uterine leiomyomas by whole exome sequencing and genome-wide arrays. Fertil Steril. 2016.  PMID: 27889101.

Desai S, Wood-Trageser M, Matic J, Chipkin J, Jiang H, Bachelot A, Dulon J, Sala C, Barbieri C, Cocca M, Toniolo D, Philippe T, Witchel S, Rajkovic A. MCM8 and MCM9 Nucleotide Variants in Women with Primary Ovarian Insufficiency. J Clin  Endocrinol Metab. 2016. PubMed PMID:27802094.

Martin LA, Porter AG, Pelligrini VA, Schnatz PA, Jiang X, Kleinstreuer N, Hall JE, Verbiest S, Olmstead J, Fair R, Falorni A, Persani L, Rajkovic A, Mehta K, Nelson LM. A design thinking approach to primary ovarian insufficiency. Panminerva Med. 2016  PMID: 27827529.

Bernstein SA, Saller DN, Catov JM, Canavan TP. Ultrasonography estimates of fetal growth in fetuses affected by trisomy21; International Journal of Gynecology and Obstetrics, Int J Gynaecol Obstet. 2016.  PMID:26969147.