ÌÇÐÄvlogÃÛÌÒ Our Programs
Throughout the evolution of the Department of Molecular and Human Genetics, there has been a strong emphasis on training and education. Our training programs began in 1987, and we have had hundreds of trainees graduate from our programs. There has been no higher priority in the department. The growth and development of the department and clinical enterprises are inextricably linked to the excellence of the trainees and training programs.
The Medical Genetics and Genomics residency programs at ÌÇÐÄvlogÃÛÌÒ of Medicine are designed to prepare individuals for an academic career by providing an integrated experience in both clinical and experimental genetics. Training activities in clinical genetics and research are coordinated through the Department of Molecular and Human Genetics. Our programs prepare the trainee to care for both pediatric and adult patients with cytogenetic, biochemical, and developmental diseases, and gain laboratory experience in a chosen area of medical genetics and genomics.
Our programs enjoy preeminence in the genetics community. They are approved by the and supported by a training grant from the . We are currently approved for a total of 12 residents.
Find out more information about each of the residency programs we offer:
Clinical Training Sites
ÌÇÐÄvlogÃÛÌÒ of Medicine has the largest and most diverse clinical genetics program in the country. Our location in the heart of the Texas Medical Center, the world's largest medical complex, provides opportunities to train at some of the top hospitals in the U.S.
Trainee Publications
Walimbe AS, Waskow E, Mackay L, Miller M, Gijavanekar C, Difalco CR, Elsea SH, Scaglia F. Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium-Dependent Multivitamin Transporter Deficiency. Am J Med Genet A. 2025 Feb 3:e64014. doi: 10.1002/ajmg.a.64014. Epub ahead of print. PMID: 39898461.
DiFalco CR, Gijavanekar C, Wang Y, Grace AN, Machol K, Emrick L, Liu N, Mizerik E, Mackay L, Dai H, Vossaert L, Xia F, Elsea SH, Scaglia F. Untargeted metabolomics analysis as a potential screening tool for 3-methylglutaconic aciduria syndromes. Mol Genet Metab. 2025 Mar;144(3):109009. doi: 10.1016/j.ymgme.2024.109009. Epub 2024 Dec 30. PMID: 39787888.
Waskow ER; Undiagnosed Diseases Network; Emrick LT, Rosenfeld JA, Ketkar S, Burrage LC, Scott DA. Recessive loss-of-function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine-Lubinsky syndrome. Am J Med Genet A. 2025 Jan;197(1):e63845. doi: 10.1002/ajmg.a.63845. Epub 2024 Aug 21. PMID: 39166428; PMCID: PMC11637968.
Brooks D, Burke E, Lee S, Eble TN, O'Leary M, Osei-Owusu I, Rehm HL, Dhar SU, Emrick L, Bick D, Nehrebecky M, Macnamara E, Casas-Alba D, Armstrong J, Prat C, MartÃnez-Monseny AF, Palau F, Liu P, Adams D; Undiagnosed Diseases Network; Lalani S, Rosenfeld JA, Burrage LC. Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Hum Genet. 2024 Mar;143(3):279-291. doi: 10.1007/s00439-024-02657-2. Epub 2024 Mar 7. PMID: 38451290; PMCID: PMC11191325.
Duarte R, Vossaert L, Darilek SA, Rose C, Schauer E, Parobek C, Bland E, Machol K, Mizerik E, Murali CN. Family Lore, a Variant of Uncertain Significance, and CADASIL. Am J Med Genet C Semin Med Genet. 2024 Nov;196(2-3):e32117. doi: 10.1002/ajmg.c.32117. Epub 2024 Oct 20. PMID: 39428697.
Marom R, Song IW, Washington ME, Berrier AS, Rossi VC, Dawson BC, Lietman CD, Stroup BM, Batkovskyte D, Busse EC, Jain M, Jiang MM, (...), Nagamani SCS, Heaney JD, Lee BH. (2024). The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteo¬progenitor differentiation defect. J Clin Invest. 134(15):e170369.
Snyder MT, Manor J, Gijavanekar C, Mizerik E, Kralik SF, Elsea SH, Machol K, Emrick L, Scaglia F. Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donors. Am J Med Genet A. 2024 Mar;194(3):e63461. doi: 10.1002/ajmg.a.63461. Epub 2023 Nov 12. PMID: 37953071.
Glinton KE, Gijavanekar C, Rajagopal A, Mackay LP, Martin KA, Pearl PL, Gibson KM, Wilson TA, Sutton VR, Elsea SH. (2024). Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis. Front Genet. 15:1405468.
Manohar S, Gofin Y, Streff H, Vossaert L, Camacho P, Murali CN. (2024). A familial deletion of 10p12.1 associated with thrombocytopenia. Am J Med Genet A. 194(1):77-81.
Marom R, Zhang B, Washington ME, Song IW, Burrage LC, Rossi, VC, (...), Lee, BH (2023). Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling. PLoS Genetics, 19 (11), e1011005.
Shanahan MA, Bebbington MW (2023). Monochorionic Twins: TTTS, TAPS, and Selective Fetal Growth Restriction. Clin Obstet Gynecol. 2023 Dec 1; 66(4): 825-840.
Shanahan MA, Vossaert L, Van den Veyver IB. Next-generation sequencing for gene panels, clinical exome, and whole-genome analysis, Editor(s): Peter C.K. Leung, Jie Qiao. Human Reproductive and Prenatal Genetics (2nd Ed. ), Academic Press, 2023, P. 743-766, ISBN 9780323913805.
Ben Moshe Y, Bekheirnia N, Smith RJH, Hicks J, Braun MC, Bekheirnia MR. Genetic diagnosis and renal biopsy findings in the setting of a renal genetics clinic (2022). Am J Med Genet C Semin Med Genet.; 190(3):302-308.
Zhang Y, Casanova M, Shanahan MA, Sutton VR, Fox K. Obstetrical Challenges in Robinow Syndrome. Case Rep Obstet Gynecol. 2022 Jul 22; 2022: 6481517. PMID: 35909981.
Scott DA, Gofin Y, Berry AM, Adams AD. Underlying genetic etiologies of congenital diaphragmatic hernia. Prenat Diagn. 2022 Mar;42(3):373-386. doi: 10.1002/pd.6099. Epub 2022 Jan 22. PMID: 35037267; PMCID: PMC8924940.
Gofin Y, Wang T, Gillentine MA, Scott TM, Berry AM, Azamian MS, Genetti C, Agrawal PB, Picker J, Wojcik MH, Delgado MR, Lynch SA, Scherer SW, Howe JL, Bacino CA, DiTroia S, VanNoy GE, O'Donnell-Luria A, Lalani SR, Graf WD, Liu P, Vossaert L. Emerging technologies for prenatal diagnosis: The application of whole genome and RNA sequencing. Prenat Diagn. 2022 May;42(6):686-696. doi: 10.1002/pd.6146. Epub 2022 Apr 18. PMID: 35416301; PMCID: PMC10014115.
Tallis E, Karsenty CL, Grimes AB, Karam LB, Elsea SH, Sutton VR, Rawls- Castillo BL, Liu N, Soler-Alfonso C. Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment. JIMD Rep. 2022 May 22;63(4):309-315. doi: 10.1002/jmd2.12304. PMID: 35822097; PMCID: PMC9259396.
Crovetti B, Maktabi MA, Erfani H, Panchalee T, Wang Q, Vossaert L, Van den Veyver I. Circulating trophoblast numbers as a potential marker for pregnancy complications. Prenat Diagn. 2022 Aug;42(9):1182-1189. doi: 10.1002/pd.6202. Epub 2022 Jul 2. PMID: 35765264; PMCID: PMC9710861.
Kurtz KJ, Tallis E, Marcogliese AN, Pulivarthi RH, Potocki L, Stevens AM. Near-Haploid B-Cell Acute Lymphoblastic Leukemia in a Patient with Rubinstein- Taybi Syndrome. Pediatr Hematol Oncol. 2022 Nov;39(8):747-754. doi: 10.1080/08880018.2022.2049938. Epub 2022 Mar 11. PMID: 35275800.
Tallis E, Scollon S, Ritter DI, Plon SE. Evolution of germline TP53 variant classification in children with cancer. Cancer Genet. 2022 Jun;264-265:29-32. doi: 10.1016/j.cancergen.2022.02.011. Epub 2022 Mar 3. PMID: 35306447; PMCID: PMC9133135.
Lucari B, Tallis E, Sutton VR, Porea T. Dual enzyme therapy improves adherence to chemotherapy in a patient with gaucher disease and Ewing sarcoma. Pediatr Hematol Oncol. 2022 Sep 20:1-7. doi: 10.1080/08880018.2022.2124006. Epub ahead of print. PMID: 36125320.
Rosenfeld JA, Eichler EE, Earl RK, Scott DA. Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Hum Mutat. 2022 Apr;43(4):461-470. doi: 10.1002/humu.24332. Epub 2022 Jan 30. PMID: 35094443; PMCID: PMC8960338.
Gofin Y, Zhao X, Gerard A, Scaglia F, Wangler MF, Schrier Vergano SA, Scott DA. Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia. Am J Med Genet A. 2022 Sep;188(9):2718-2723. doi: 10.1002/ajmg.a.62889. Epub 2022 Jul 7. PMID: 35796094; PMCID: PMC9378577.
Gofin Y, Scott DA. Evidence-Based Genetic Testing for Individuals with Congenital Diaphragmatic Hernia. J Pediatr. 2022 Sep;248:13-14. doi: 10.1016/j.jpeds.2022.05.059. Epub 2022 Jun 3. PMID: 35667445; PMCID: PMC9912172.
Kumar RD, Meng L, Liu P, Miyake CY, Worley KC, Bi W, Lalani SR. Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis. Am J Med Genet A. 2022 Nov;188(11):3184-3190. doi: 10.1002/ajmg.a.62967. Epub 2022 Sep 6. PMID: 36065636; PMCID: PMC9703357.
Kumar RD, Tosur M, Lalani SR, Mahoney DH Jr, Bertuch AA. The germline p53 activation syndrome: A new patient further refines the clinical phenotype. Am J Med Genet A. 2022 Jul;188(7):2204-2208. doi: 10.1002/ajmg.a.62749. Epub 2022 Apr 1. PMID: 35362179.
Weisz-Hubshman M, Egunsula AT, Dawson B, Castellon A, Jiang MM, Chen-Evenson Y, Zhiyin Y, Lee B, Bae Y. DDRGK1 is required for the proper development and maintenance of the growth plate cartilage. Hum Mol Genet. 2022 Aug 23;31(16):2820-2830. doi: 10.1093/hmg/ddac078. PMID: 35377455; PMCID: PMC9402238.
Machol K, Polak U, Weisz-Hubshman M, Song IW, Chen S, Jiang MM, Chen-Evenson Y, Weis MAE, Keene DR, Eyre DR, Lee BH. Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers-Danlos syndrome. Hum Mol Genet. 2022 Apr 22;31(8):1325-1335. doi: 10.1093/hmg/ddab323. PMID: 34740257; PMCID: PMC9029232.
Lay E, Azamian MS, Denfield SW, Dreyer W, Spinner JA, Kearney D, Zhang L, Worley KC, Bi W, Lalani SR. LMOD2-related dilated cardiomyopathy presenting in late infancy. Am J Med Genet A. 2022 Jun;188(6):1858-1862. doi: 10.1002/ajmg.a.62699. Epub 2022 Feb 21. PMID: 35188328; PMCID: PMC9117498.
Miyake CY, Lay EJ, Beach CM, Ceresnak SR, Delauz CM, Howard TS, Janson CM, Jardine K, Kannankeril PJ, Kava M, Kim JJ, Liberman L, Macicek SL, Pham TD, Robertson T, Valdes SO, Webster G, Stephens SB, Milewicz DM, Azamian M, Ehsan SA, Houck KM, Soler-Alfonso C, Glinton KE, Tosur M, Li N, Xu W, Lalani SR, Zhang L. Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises. Heart Rhythm. 2022 Oct;19(10):1673-1681. doi: 10.1016/j.hrthm.2022.05.009. Epub 2022 May 11. PMID: 35568137.
Manor J, Calame D, Gijavanekar C, Fisher K, Hunter J, Mizerik E, Bacino C, Scaglia F, Elsea SH. NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction. Mol Genet Metab. 2022 Jun;136(2):101-110. doi: 10.1016/j.ymgme.2022.04.003. Epub 2022 Apr 18. PMID: 35637064; PMCID: PMC9893913.
Manor J, Calame DG, Gijavanekar C, Tran A, Fatih JM, Lalani SR, Mizerik E, Parnes M, Mehta VP, Adesina AM, Lupski JR, Scaglia F, Elsea SH. Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient. Brain. 2022 Jun 3;145(5):e36-e40. doi: 10.1093/brain/awac065. PMID: 35231119.
Odom J, Amin H, Gijavanekar C, Elsea SH, Kralik S, Chinen J, Lin Y, Yates AMM, Mizerik E, Potocki L, Scaglia F. A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay. Am J Med Genet A. 2022 Jan;188(1):259-268. doi: 10.1002/ajmg.a.62482. Epub 2021 Sep 12. PMID: 34510712.
Yuan B, Schulze KV, Assia Batzir N, Sinson J, Dai H, Zhu W, Bocanegra F, Fong CT, Holder J, Nguyen J, Schaaf CP, Yang Y, Bi W, Eng C, Shaw C, Lupski JR, Liu P. Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits. Genome Med. 2022 Sep 30;14(1):113. doi: 10.1186/s13073-022-01113-y. PMID: 36180924; PMCID: PMC9526336.
Li VL, He Y, Contrepois K, Liu H, Kim JT, Wiggenhorn AL, Tanzo JT, Tung AS, Lyu X, Zushin PH, Jansen RS, Michael B, Loh KY, Yang AC, Carl CS, Voldstedlund CT, Wei W, Terrell SM, Moeller BC, Arthur RM, Wallis GA, van de Wetering K, Stahl A, Kiens B, Richter EA, Banik SM, Snyder MP, Xu Y, Long JZ. An exercise- inducible metabolite that suppresses feeding and obesity. Nature. 2022 Jun;606(7915):785-790. doi: 10.1038/s41586-022-04828-5. Epub 2022 Jun 15. PMID: 35705806; PMCID: PMC9767481.
Zemet R, Van den Veyver IB, Stankiewicz P. Parental mosaicism for apparent de novo genetic variants: Scope, detection, and counseling challenges. Prenat Diagn. 2022 Jun;42(7):811-821. doi: 10.1002/pd.6144. Epub 2022 Apr 14. PMID: 35394072; PMCID: PMC9995893.
Sy MR, Chauhan J, Prescott K, Imam A, Kraus A, Beleza A, Salkeld L, Hosdurga S, Parker M, Vasudevan P, Islam L, Goel H, Bain N, Park SM, Mohammed S, Dieterich K, Coutton C, Satre V, Vieville G, Donaldson A, Beneteau C, Ghoumid J, Van Den Bogaert K, Boogaerts A, Boudry E, Vanlerberghe C, Petit F, Bernardini L, Torres B, Mattina T, Carli D, Mandrile G, Pinelli M, Brunetti-Pierri N, Neas K, Beddow R, Tørring PM, Faletra F, Spedicati B, Gasparini P, Mussa A, Ferrero GB, Lampe A, Lam W, Bi W, Bacino CA, Kuwahara A, Bush JO, Zhao X, Luna PN, Shaw CA, Rosenfeld JA, Scott DA. Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus. Am J Med Genet A. 2022 Dec;188(12):3492-3504. doi: 10.1002/ajmg.a.62976. Epub 2022 Sep 22. PMID: 36135330; PMCID: PMC9669235.
Hardcastle A, Berry AM, Campbell IM, Zhao X, Liu P, Gerard AE, Rosenfeld JA, Sisoudiya SD, Hernandez-Garcia A, Loddo S, Di Tommaso S, Novelli A, Dentici ML, Capolino R, Digilio MC, Graziani L, Rustad CF, Neas K, Ferrero GB, Brusco A, Di Gregorio E, Wellesley D, Beneteau C, Joubert M, Van Den Bogaert K, Boogaerts A, McMullan DJ, Dean J, Giuffrida MG, Bernardini L, Varghese V, Shannon NL, Harrison RE, Lam WWK, McKee S, Turnpenny PD, Cole T, Morton J, Eason J, Jones MC, Hall R, Wright M, Horridge K, Shaw CA, Chung WK, Scott DA. Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. Am J Med Genet A. 2022 Oct;188(10):2958-2968. doi: 10.1002/ajmg.a.62919. Epub 2022 Jul 29. PMID: 35904974; PMCID: PMC9474674.
Gofin Y, Zhao X, Gerard A, Scaglia F, Wangler MF, Schrier Vergano SA, Scott DA. Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia. Am J Med Genet A. 2022 Sep;188(9):2718-2723. doi: 10.1002/ajmg.a.62889. Epub 2022 Jul 7. PMID: 35796094; PMCID: PMC9378577.
Zhuo X, Wang Q, Vossaert L, Salman R, Kim A, Van den Veyver I, Breman A, Beaudet A. Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell- based NIPT. PLoS One. 2021 Apr 15;16(4):e0249695. doi: 10.1371/journal.pone.0249695. PMID: 33857205; PMCID: PMC8049273.
Kumar RD, Burrage LC, Bartos J, Ali S, Schmitt E, Nagamani SCS, LeMons C. A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing. Mol Genet Metab Rep. 2021 Jan 8;26:100706. doi: 10.1016/j.ymgmr.2020.100706. PMID: 33489762; PMCID: PMC7809430.
Gofin Y, Mackay LP, Machol K, Keswani S, Potocki L, Di Gregorio E, Naretto VG, Brusco A, Hernandez-Garcia A, Scott DA. Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans. Am J Med Genet A. 2021 Mar;185(3):836-840. doi: 10.1002/ajmg.a.62066. Epub 2021 Jan 14. PMID: 33443296; PMCID: PMC8011624.
Okur V, Chen Z, Vossaert L, Peacock S, Rosenfeld J, Zhao L, Du H, Calamaro E, Gerard A, Zhao S, Kelsay J, Lahr A, Mighton C, Porter HM, Siemon A, Silver J, Svihovec S, Fong CT, Grant CL, Lerner-Ellis J, Manickam K, Madan-Khetarpal S, McCandless SE, Morel CF, Schaefer GB, Berry-Kravis EM, Gates R, Gomez-Ospina N, Qiu G, Zhang TJ, Wu Z, Meng L, Liu P, Scott DA, Lupski JR, Eng CM, Wu N, Yuan B. De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities. NPJ Genom Med. 2021 Dec 7;6(1):104. doi: 10.1038/s41525-021-00268-8. PMID: 34876591; PMCID: PMC8651650.
Manor J, Chung H, Bhagwat PK, Wangler MF. ABCD1 and X-linked adrenoleukodystrophy: A disease with a markedly variable phenotype showing conserved neurobiology in animal models. J Neurosci Res. 2021 Dec;99(12):3170-3181. doi: 10.1002/jnr.24953. Epub 2021 Oct 29. PMID: 34716609; PMCID: PMC9665428.
Manor J, Dinu D, Azamian MS, Bi W, Darilek S, Lalani SR. A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature. Am J Med Genet A. 2021 Oct;185(10):2903-2912. doi: 10.1002/ajmg.a.62368. Epub 2021 Jun 1. PMID: 34061437; PMCID: PMC9082733.
Markovitz R, Ghosh R, Lotze T, Potocki L. GARS1-Associated Axonal Neuropathy. 2006 Nov 8 [updated 2021 Jul 22]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 20301420.
Markovitz R, Owen N, Satter LF, Kirk S, Mahoney DH, Bertuch AA, Scaglia F. Expansion of the clinical phenotype of GALE deficiency. Am J Med Genet A. 2021 Oct;185(10):3118-3121. doi: 10.1002/ajmg.a.62384. Epub 2021 Jun 22. PMID: 34159722.
Saida K, Fukuda T, Scott DA, Sengoku T, Ogata K, Nicosia A, Hernandez-Garcia A, Lalani SR, Azamian MS, Streff H, Liu P, Dai H, Mizuguchi T, Miyatake S, Asahina M, Ogata T, Miyake N, Matsumoto N. OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation. Front Cell Dev Biol. 2021 Mar 3;9:631428. doi: 10.3389/fcell.2021.631428. PMID: 33748114; PMCID: PMC7965969.
Odom JD, Sutton VR. Metabolomics in Clinical Practice: Improving Diagnosis and Informing Management. Clin Chem. 2021 Nov 26;67(12):1606-1617. doi: 10.1093/clinchem/hvab184. PMID: 34633032.
Okur V, Hamm L, Kavus H, Mebane C, Robinson S, Levy B, Chung WK. Clinical and genomic characterization of 8p cytogenomic disorders. Genet Med. 2021 Dec;23(12):2342-2351. doi: 10.1038/s41436-021-01270-2. Epub 2021 Jul 19. PMID: 34282301.
Dworschak GC, Punetha J, Kalanithy JC, Mingardo E, Erdem HB, Akdemir ZC, Karaca E, Mitani T, Marafi D, Fatih JM, Jhangiani SN, Hunter JV, Dakal TC, Dhabhai B, Dabbagh O, Alsaif HS, Alkuraya FS, Maroofian R, Houlden H, Efthymiou S, Dominik N, Salpietro V, Sultan T, Haider S, Bibi F, Thiele H, Hoefele J, Riedhammer KM, Wagner M, Guella I, Demos M, Keren B, Buratti J, Charles P, Nava C, Héron D, Heide S, Valkanas E, Waddell LB, Jones KJ, Oates EC, Cooper ST, MacArthur D, Syrbe S, Ziegler A, Platzer K, Okur V, Chung WK, O'Shea SA, Alcalay R, Fahn S, Mark PR, Guerrini R, Vetro A, Hudson B, Schnur RE, Hoganson GE, Burton JE, McEntagart M, Lindenberg T, Yilmaz Ö, Odermatt B, Pehlivan D, Posey JE, Lupski JR, Reutter H. Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies. Genet Med. 2021 Sep;23(9):1715-1725. doi: 10.1038/s41436-021-01196-9. Epub 2021 May 30. PMID: 34054129; PMCID: PMC8460429.
O'Shea SA, Hickman RA, Cortes E, Vonsattel JP, Fahn S, Okur V, Alcalay RN, Chung WK. Neuropathological Findings in a Case of Parkinsonism and Developmental Delay Associated with a Monoallelic Variant in PLXNA1. Mov Disord. 2021 Nov;36(11):2681-2687. doi: 10.1002/mds.28756. Epub 2021 Aug 20. PMID: 34415653.
Wu CW, Sasa G, Salih A, Nicholas S, Vogel TP, Cahill G, Kuehn HS, Rosenzweig SD, Zhou Q, Chinn IK, Yuan B. Complicated Diagnosis and Treatment of HA20 due to Contiguous Gene Deletions involving 6q23.3. J Clin Immunol. 2021 Aug;41(6):1420-1423. doi: 10.1007/s10875-021-01048-w. Epub 2021 May 25. PMID: 34032947.
Liu N, Xiao J, Gijavanekar C, Pappan KL, Glinton KE, Shayota BJ, Kennedy AD, Sun Q, Sutton VR, Elsea SH. Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism. JAMA Netw Open. 2021 Jul 1;4(7):e2114155. doi: 10.1001/jamanetworkopen.2021.14155. PMID: 34251446; PMCID: PMC8276086.
Edwards SD, Schulze KV, Rosenfeld JA, Westerfield LE, Gerard A, Yuan B, Grigorenko EL, Posey JE, Bi W, Liu P. Clinical characterization of individuals with the distal 1q21.1 microdeletion.
Am J Med Genet A. 2021 May;185(5):1388-1398. doi: 10.1002/ajmg.a.62104. Epub 2021 Feb 11. PMID: 33576134.
Domogala DD, Gambin T, Zemet R, Wu CW, Schulze KV, Yang Y, Wilson TA, Machol I, Liu P, Stankiewicz P. Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset. Hum Genomics. 2021 Dec 20;15(1):72. doi: 10.1186/s40246-021-00369-6. PMID: 34930489; PMCID: PMC8686574.
Vossaert L, Chakchouk I, Zemet R, Van den Veyver IB. Overview and recent developments in cell-based noninvasive prenatal testing. Prenat Diagn. 2021 Sep;41(10):1202-1214. doi: 10.1002/pd.5957. Epub 2021 May 18. PMID: 33974713; PMCID: PMC9355411.
Fan X, Zhao S, Yu C, Wu D, Yan Z, Fan L, Song Y, Wang Y, Li C, Ming Y, Gui B, Niu Y, Li X, Yang X, Luo S, Zhang Q, Zhao X, Pan H, Li M, Xia W, Qiu G, Liu P, Zhang S, Zhang J, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Lupski JR, Posey JE, Chen S, Gong C, Wu N. Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature. J Genet Genomics. 2021 May 20;48(5):396-402. doi: 10.1016/j.jgg.2021.02.008. Epub 2021 Mar 22. PMID: 34006472.
Nishii R, Baskin-Doerfler R, Yang W, Oak N, Zhao X, Yang W, Hoshitsuki K, Bloom M, Verbist K, Burns M, Li Z, Lin TN, Qian M, Moriyama T, Gastier-Foster JM, Rabin KR, Raetz E, Mullighan C, Pui CH, Yeoh AE, Zhang J, Metzger ML, Klco JM, Hunger SP, Newman S, Wu G, Loh ML, Nichols KE, Yang JJ. Molecular basis of ETV6-mediated predisposition to childhood acute lymphoblastic leukemia. Blood. 2021 Jan 21;137(3):364-373. doi: 10.1182/blood.2020006164. PMID: 32693409; PMCID: PMC7819760.
Schaaf CP, Betancur C, (...) Chen CA, et al. A framework for an evidence-based gene list relevant to autism spectrum disorder. Nat Rev Genet. 2020 Jun; 21(6): 367-376. PMID: 32317787
Rech ME, McCarthy JM, Chen CA, et al. Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations. Am J Med Genet A. 2020 Jun; 182(6): 1426-1437. PMID: 32275123
Chen CA, Pal R, Yin J, et al. Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder. Hum Mol Genet. 2020 Feb 1; 29(3): 459-470. PMID: 31943016
Gu S, Chen CA, Rosenfeld JA, et al. Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. Hum Mutat. 2020 Mar; 41(3): 632-640. PMID: 31696996
Birjiniuk A, Glinton KE, Villafranco N, Boyer S, Laufman J, Mizerik E, Scott D, Elsea SH, Galambos C, Varghese NP, Scaglia F. Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension. Am J Med Genet A. 2020 Apr; 182(4): 755-761. PMID: 31970900
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Slater B, Glinton K, Dai H, Lay E, Karaviti L, Mizerik E, Murali CN, Lalani SR, Bacino CA, Rossetti LZ. Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case report. Am J Med Genet A. 2020 Nov;182(11):2751-2754. doi: 10.1002/ajmg.a.61842. Epub 2020 Sep 4. PMID: 32885560.
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Omer Shlomovitz received the BCM Power of Professionalism award from Dr. Stacey Rose, Associate Director of the BCM Center for Professionalism.
Trainee Recognition
| Recipient | Award Title | Year |
|---|---|---|
| Steven Lang | Texas Beta Chapter of Alpha Omega Alpha Inductee | 2026 |
| Dan Brooks | Society of Inherited Metabolic Disorders Travel Award | 2026 |
| Bridget Kiely | American Society of Clinical Oncology Travel Award | 2026 |
| Simon Braendle | American Society of Human Genetics Reviewer's Choice Award (Poster) | 2025 |
| Dan Brooks | Academy of Resident and Fellow Educators Excellence Award | 2025 |
| Dan Brooks | ACMGF Next Generation Award | 2025 |
| Ryan Difalco | Clinical Resident Award, Department of Molecular and Human Genetics, ÌÇÐÄvlogÃÛÌÒ of Medicine | 2025 |
| Matthew Shanahan | Clinical Resident Award, Department of Molecular and Human Genetics, ÌÇÐÄvlogÃÛÌÒ of Medicine | 2024 |
| Yishay Ben Moshe | Clinical Resident Award, Department of Molecular and Human Genetics, ÌÇÐÄvlogÃÛÌÒ of Medicine | 2023 |
| Scott Ward | Clinical Resident Award, Department of Molecular and Human Genetics, ÌÇÐÄvlogÃÛÌÒ of Medicine | 2022 |
| Monika Weisz Hubshman | Clinical Resident Award, Department of Molecular and Human Genetics, ÌÇÐÄvlogÃÛÌÒ of Medicine | 2021 |
| Rebecca Markovitz | The Jan Goddard-Finegold Award for Best Rotating Resident in Developmental Pediatrics, ÌÇÐÄvlogÃÛÌÒ of Medicine | 2021-2022 |
| Linda Rosetti | Clinical Resident Award, Department of Molecular and Human Genetics, ÌÇÐÄvlogÃÛÌÒ of Medicine | 2020 |
Meet our Faculty
Our clinical faculty have a tremendous depth of experience and expertise and are committed to mentoring each trainee to reach his or her full potential.
Alumni
Graduates of ÌÇÐÄvlogÃÛÌÒ of Medicine Medical Genetics and Genomics residency programs are well prepared to become leaders in the field.