Jill Anne Mokry, M.S. C.G.C.
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Positions
- Associate Professor
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Mol. & Human Genetics
Baylor College of Medicine
Houston, TX US
Addresses
- Alkek Building for Biomedical Research (Office)
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Room: ABBR-R804
Houston, TX 77030
United States
Phone: (713) 798-5440
mokry@bcm.edu
Education
- MS from Indiana University
- 06/2008 - Indianapolis, Indiana United States
- Medical & Molecular Genetics
- BS from Massachusetts Institute of Technology
- 06/2002 - Cambridge, Massachusetts United States
- Biology
Certifications
- Certified Genetic Counselor
- American Board of Genetic Counseling
Professional Interests
- Clinical genetic testing
- Chromosomal microarrays
- Whole exome sequencing
- Undiagnosed diseases
- Microdeletions & microduplications
Professional Statement
Jill A. Rosenfeld Mokry is a certified genetic counselor with extensive experience researching what genome-wide testing can teach us about human disease. She will also be involved with running the Undiagnosed Diseases Network (UDN) research study at Baylor College of Medicine. This clinical study aims to improve the process of medical diagnosis and identify new human diseases.Websites
Selected Publications
- Rosenfeld JA, Fox JE, Descartes M, Brewer F, Stroud T, Gorski JL, Upton SJ, Moeschler JB, Monteleone B, Neill NJ, Lamb AN, Ballif BC, Shaffer LG, Ravnan JB "Clinical features associated with copy number variations of the 14q32 imprinted gene cluster." Am J Med Genet A. 2014;
- Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, ... Romano C, Eichler EE "Refining analyses of copy number variation identifies specific genes associated with developmental delay." Nat Genet. 2014 Oct;46(10):1063-1071. Pubmed PMID: 25217958
- Campbell IM, Gambin T, Dittwald P, Beck CR, Shuvarikov A, Hixson P, Patel A, Gambin A, Shaw CA, Rosenfeld JA, Stankiewicz P "Human endogenous retroviral elements promote genome instability via nonallelic homologous recombination." BMC Biol. 2014 Sep 23;12:74. Pubmed PMID: 25246103
- Rosenfeld JA, Morton SA, Hummel C, Sulpizio SG, McDaniel LD, Schultz RA, Torchia BS, Ravnan JB, Ellison JW, Fisher AJ "Experience using a rapid assay for aneuploidy and microdeletion/microduplication detection in over 2900 prenatal specimens." Fetal Diagn Ther. 2014;36(3):231-241. Pubmed PMID: 25115231
- Overhoff J, Rabideau MM, Bird LM, Schweitzer DN, Haynes K, Schultz RA, Shaffer LG, Rosenfeld JA, Ellison JW "Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome." Am J Med Genet A. 2014 Jan;164(1):259-263. Pubmed PMID: 24259484
- Chowdhury S, Bandholz AM, Parkash S, Dyack S, Rideout AL, Leppig KA, Thiese H, Wheeler PG, Tsang M, Ballif BC, Shaffer LG, Torchia BS, Ellison JW, Rosenfeld JA "Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients." Am J Med Genet A. 2014 Jan;164(1):62-69. Pubmed PMID: 24243649
- Shuvarikov A, Campbell IM, Dittwald P, Neill NJ, Bialer MG, Moore C, Wheeler PG, Wallace SE, Hannibal MC, Murray MF, Giovanni MA, Terespolsky D, Sodhi S, Cassina M, Viskochil D, Moghaddam B, Herman K, Brown C, ... Stankiewicz P, Rosenfeld JA "Recurrent HERV-H- Mediated 3q13.2-q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays." Hum Mutat. 2013 Oct;34(10):1415-1423. Pubmed PMID: 23878096
- Rosenfeld JA, Coe BP, Eichler EE, Cuckle H, Shaffer LG "Estimates of penetrance for recurrent pathogenic copy- number variations." Genet Med. 2013 Jun;15(6):478-481. Pubmed PMID: 23258348
- Dabell MP, Rosenfeld JA, Bader P, Escobar LF, El-Khechen D, Vallee SE, Dinulos MB, Curry C, Fisher J, Tervo R, Hannibal MC, Siefkas K, Wyatt PR, Hughes L, Smith R, Ellingwood S, Lacassie Y, Stroud T, Farrell SA, ... Ballif BC, Shaffer LG "Investigation of NRXN1 deletions: Clinical and molecular characterization." Am J Med Genet A. 2013 Apr;161(4):717-731. Pubmed PMID: 23495017
- Rosenfeld JA, Kim KH, Angle B, Troxell R, Gorski JL, Westemeyer M, Frydman M, Senturias Y, Earl D, Torchia B, Schultz RA, Ellison JW, Tsuchiya K, Zimmerman S, Smolarek TA, Ballif BC, Shaffer LG "Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly." Mol Syndromol. 2013 Jan;3(6):247-254. Pubmed PMID: 23599694
- Ellison JW, Ravnan JB, Rosenfeld JA, Morton SA, Neill NJ, Williams MS, Lewis J, Torchia BS, Walker C, Traylor RN, Moles K, Miller E, Lantz J, Valentin C, Minier SL, Leiser K, Powell BR, Wilks TM, Shaffer LG "Clinical utility of chromosomal microarray analysis." Pediatrics. 2012 Nov;130(5):e1085-1095. Pubmed PMID: 23071206
- Lamb AN, Rosenfeld JA, Coppinger J, Dodge ET, Dabell MP, Torchia BS, Ravnan JB, Shaffer LG, Ballif BC "Defining the impact of maternal cell contamination on the interpretation of prenatal microarray analysis." Genet Med. 2012 Nov;14(11):914-921. Pubmed PMID: 22766610
- Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, Goldstein A, Filipink RA, McConnell JS, Angle B, Meschino WS, Nezarati MM, Asamoah A, Jackson KE, Gowans GC, Martin JA, Carmany EP, Stockton DW, Schnur RE, Penney LS, ... Shaffer LG, Eichler EE "Phenotypic heterogeneity of genomic disorders and rare copy-number variants." N Engl J Med. 2012 Oct 4;367(14):1321-1331. Pubmed PMID: 22970919
- Shaffer LG, Dabell MP, Fisher AJ, Coppinger J, Bandholz AM, Ellison JW, Ravnan JB, Torchia BS, Ballif BC, Rosenfeld JA "Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies." Prenat Diagn. 2012 Oct;32(10):976-985. Pubmed PMID: 22865506
- Shaffer LG, Rosenfeld JA, Dabell MP, Coppinger J, Bandholz AM, Ellison JW, Ravnan JB, Torchia BS, Ballif BC, Fisher AJ "Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound." Prenat Diagn. 2012 Oct;32(10):986-995. Pubmed PMID: 22847778
- Rosenfeld JA, Traylor RN, Schaefer GB, McPherson EW, Ballif BC, Klopocki E, Mundlos S, Shaffer LG, Aylsworth AS, 1q21.1 Study Group "Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes." Eur J Hum Genet. 2012 Jul;20(7):754-761. Pubmed PMID: 22317977
- Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, Moeschler JB, Ladda R, Sell S, ... Ballif BC, Shaffer LG "Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features." Hum Mut. 2012 Apr;33(4):728-740. Pubmed PMID: 22290657
- McGillivray G, Rosenfeld JA, McKinlay Gardner RJ, Gillam LH "Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing." Prenat Diagn. 2012 Apr;32(4):389-395. Pubmed PMID: 22467169
- Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, Ernst C, Hanscom C, Rossin E, Lindgren AM, Pereira S, Ruderfer D, Kirby A, Ripke S, Harris DJ, Lee JH, Ha K, Kim HG, Solomon BD, Gropman AL, ... Morton CC, Gusella JF "Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries." Cell. 2012 Apr 27;149(3):525-537. Pubmed PMID: 22521361
- Rosenfeld JA, Amrom D, Andermann E, Andermann F, Veilleux M, Curry C, Fisher J, Deputy S, Aylsworth AS, Powell CM, Manickam K, Heese B, Maisenbacher M, Stevens C, Ellison JW, Upton S, Moeschler J, ... Paciorkowski AR, Shaffer LG "Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases." Neurogenetics. 2012 Feb;13(1):31-47. Pubmed PMID: 22218741
- Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel- Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, ... Shaffer LG, Eichler EE "A copy number variation morbidity map of developmental delay." Nat Genet. 2011 Aug 14;43(9):838-846. Pubmed PMID: 21841781
- Rosenfeld JA, Drautz JM, Clericuzio CL, Cushing T, Raskin S, Martin J, Tervo RC, Pitarque JA, Nowak DM, Karolak JA, Lamb AN, Schultz RA, Ballif BC, Bejjani BA, Gajecka M, Shaffer LG "Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes." Am J Med Genet A. 2011 Aug;155(8):1906-1916. Pubmed PMID: 21744490
- 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):547-554. Pubmed PMID: 21248749
- Rosenfeld JA, Lacassie Y, El-Khechen D, Escobar LF, Reggin J, Heuer C, Chen E, Jenkins LS, Collins AT, Zinner S, Babcock M, Morrow B, Schultz RA, Torchia B, Ballif BC, Tsuchiya KD, Shaffer LG "New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome." Eur J Med Genet. 2011;54(1):42-49. Pubmed PMID: 20951845
- Rosenfeld JA, Ballif BC, Torchia BS, Sahoo T, Ravnan JB, Schultz R, Lamb A, Bejjani BA, Shaffer LG "Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders." Genet Med. 2010 Nov;12(11):694-702. Pubmed PMID: 20808228
- Rosenfeld JA, Crolla JA, Tomkins S, Bader P, Morrow B, Gorski J, Troxell R, Forster-Gibson C, Cilliers D, Hislop RG, Lamb A, Torchia B, Ballif BC, Shaffer LG "Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions." Am J Med Genet A. 2010 Aug;152(8):1951-1959. Pubmed PMID: 20635359
- Rosenfeld JA, Ballif BC, Martin DM, Aylsworth AS, Bejjani BA, Torchia BS, Shaffer LG "Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE." Hum Genet. 2010 Apr;127(4):421-440. Pubmed PMID: 20066439
- Rosenfeld JA, Coppinger J, Bejjani BA, Girirajan S, Eichler EE, Shaffer LG, Ballif BC "Speech Delays and Behavioral Problems are the Predominant Features in Individuals with Developmental Delays and 16p11.2 Microdeletions and Microduplications." J Neurodev Disord. 2010 Mar;2(1):26-38. Pubmed PMID: 21731881
- Rosenfeld JA, Leppig K, Ballif BC, Thiese H, Erdie-Lalena C, Bawle E, Sastry S, Spence JE, Bandholz A, Surti U, Zonana J, Keller K, Meschino W, Bejjani BA, Torchia BS, Shaffer LG "Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations." Genet Med. 2009 Nov;11(11):797-805. Pubmed PMID: 19938247
- Rosenfeld JA, Ballif BC, Lucas A, Spence EJ, Powell C, Aylsworth AS, Torchia BA, Shaffer LG "Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome." PLoS One. 2009 Aug 10;4(8):e6568. Pubmed PMID: 19668335
Memberships
- National Society of Genetic Counselors
- Full member (12/2006)
- American College of Medical Genetics and Genomics
- Associate member (01/2009)
- American Society of Human Genetics
- Regular member (06/2010)
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