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`
`2002 Mason St
`Houston, TX 77006-2106
`713-305-8878
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`ACADEMIC POSITION
`2015 – PRESENT
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`2009 – 2014
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`1999 - 2009
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`EDUCATION AND TRAINING
`COLLEGE
`1984-1988
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`MEDICAL SCHOOL
`1988-1992
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`RESIDENCY
`1992-1995
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`CHIEF RESIDENT
`1995-1996
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`FELLOWSHIP
`1996-1999
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`CURRICULUM VITAE
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`VERNON REID SUTTON
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`WORK
`6701 Fannin St Suite 1560
`Houston, TX 77030-2399
`Phone: 832-822-4296
`Fax: 832-825-4294
`e-mail: vrsutton@texaschildrens.org
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`PROFESSOR (WITH TENURE)
`DIRECTOR, INBORN ERRORS OF METABOLISM SERVICE, TEXAS CHILDREN’S HOSPITAL
`MEDICAL DIRECTOR, BAYLOR BIOCHEMICAL GENETICS LABORATORY
`Department of Molecular and Human Genetics
`Baylor College of Medicine
`Houston, Texas
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`ASSOCIATE PROFESSOR
`Department of Molecular and Human Genetics
`Baylor College of Medicine
`Houston, Texas
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`ASSISTANT PROFESSOR
`Department of Molecular and Human Genetics
`Baylor College of Medicine
`Houston, Texas
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`TRANSYLVANIA UNIVERSITY
`300 North Broadway
`Lexington, KY 40508
`Degree earned: BA cum laude
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`UNIVERSITY OF KENTUCKY COLLEGE OF MEDICINE
`800 Rose Street
`Lexington, KY 40536
`Degree earned: MD with Distinction
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`WASHINGTON UNIVERSITY SCHOOL OF MEDICINE
`ST. LOUIS CHILDREN’S HOSPITAL
`One Children’s Place
`St. Louis, MO 63110
`Resident (PL-1, PL-2, PL-3) in Pediatrics
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`WASHINGTON UNIVERSITY SCHOOL OF MEDICINE
`ST. LOUIS CHILDREN’S HOSPITAL
`BAYLOR COLLEGE OF MEDICINE
`Department of Molecular and Human Genetics
`One Baylor Plaza
`Houston, TX 77030
`MEDICAL GENETICS
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`Horizon Exhibit 2002
`Lupin v. Horizon
`IPR2018-00459
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`LICENSE AND CERTIFICATION
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`July 1, 1993
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`1999-present
`1999-present
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`2002-present
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`CURRENT SUPPORT
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`Diplomate, National Board of Medical Examiners
`Certification # 411823
`Texas State Board of Medical Examiners - License # K8506
`Diplomate of the American Board of Medical Genetics in Clinical Genetics. Certificate
`#99150; active in Maintenance of Certification
`Diplomate of the American Board of Medical Genetics in Clinical Biochemical Genetics.
`Certificate #2002109; active in Maintenance of Certification
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`12/01/2011-11/30/2019 Baylor-Johns Hopkins Center for Mendelian Genetics 2UM1HG006542-05 NHGRI &
`NHBLI, Valle, (PI)
`Role: Co-PI (15%)
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`08/06/2014-07/31/2019 Brittle Bone Disorders Consortium of the Rare Disease Clinical Research Network
`1U54AR068069-01, NIAMS, NIDCR, NCATS, NICHD. Lee (PI); Role: Administrative &
`Longitudinal Study PI (15%)
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`AWARDS
`2008
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`2008 – 2013
`2011
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`PROFESSIONAL SOCIETIES
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`Fellow, American College of Medical Genetics
`American Society of Human Genetics
`International Skeletal Dysplasia Society
`Society of Inherited Metabolic Diseases
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`PROFESSIONAL SERVICE
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`2016-2017
`2015-2016
`2015
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`2015
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`2014-2016
`2013-2014
`2013
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`2013 – present
`2013 – 2016
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`2013 – 2015
`2013 - 2017
`2012 - 2013
`2012
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`2011 – 2013
`2011 – 2013
`2011 – 2014
`2011 – 2016
`2010 – 2012
`2010 – 2016
`2010
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`2009 – 2010
`2009 – 2010
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`2009
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`Fulbright & Jaworski, LLP Faculty Excellence Award – Educational Leadership
`Baylor College of Medicine Academy of Distinguished Educators
`Clinical Faculty Teaching Award, Department of Molecular & Human Genetics
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`Chair, American Board of Medical Genetics & Genomics
`ACGME Milestones Revision Working Group
`Chair-elect, American Board of Medical Genetics & Genomics
`Book Chief, Biochemical Genetics Certification Examination
`Book Chief, Medical Genetics Residency Program In-Training Examination
`Chair, Medical Biochemical Genetics Milestones Committee, ACGME
`Assistant Book Chief, Biochemical Genetics Certification Examination, American Board
`of Medical Genetics
`Osteogenesis Imperfecta Foundation Medical Advisory Council
`Chair, Residency Review Committee, Medical Genetics & Vice-Chair, Residency
`Review Committee, Molecular Genetic Pathology, ACGME
`President, Medical Genetics Residency Program Directors Association
`Faculty, Society of Inherited Metabolic Diseases, North American Metabolic Academy
`ACGME Clinical Informatics Fellowship Program Requirements Working Group
`Program Committee, Society of Inherited Metabolic Disorders Meeting
`Vice-chair, Residency Review Committee, Medical Genetics, ACGME
`ACGME Milestones Project Committee Member, Medical Genetics
`Council Member, Association of Professors of Human & Medical Genetics
`Director, American Board of Medical Genetics
`Vice President, Medical Genetics Residency Program Directors Association
`ACGME Residency Review Committee Member, Medical Genetics
`Abstract Reviewer, Metabolic Disorders, American Society of Human Genetics Annual
`Meeting, Washington, DC
`Secretary/Treasurer, Medical Genetics Residency Program Directors Association
`Clinical Laboratory Improvement Advisory Committee (CLIAC) for Biochemical Genetics
`(Centers for Disease Control)
`Co-Chair, Osteogenesis Imperfecta Foundation Scientific Meeting “Signaling in Bone
`and Targets for Therapy”
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`2008-2009
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`2007-2015
`2007-Present
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`2006-2010
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`2005-2015
`2005-Present
`2004-Present
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`2003-2008
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`2005-2006
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`American Board of Medical Genetics, Clinical Genetics Examination Book Item Writer –
`2011 Examination
`Co-Director, Osteogenesis Imperfecta Foundation Linked Clinical Research Centers
`Director, American Board of Medical Genetics Diagnostic Laboratory Fellowships,
`Baylor College of Medicine
`Member, Review Board CETT (Collaboration, Education and Test Translation for Rare
`Diseases) Program of the Office of Rare Diseases (NIH): Review applications for funds
`to facilitate genetic test translation for rare diseases from research laboratories to
`clinical laboratories.
`Chair, Human Subjects Institutional Review Boards 3 & 6, Baylor College of Medicine
`Director, Medical Genetics Residency Program, Baylor College of Medicine
`Member, Professional Practice and Guidelines Committee, American College of Medical
`Genetics
`Chair, Human Subjects Committee, Rare Diseases Clinical Research Network
`(RDCRN), Program of the Office of Rare Diseases (NIH)
`American Board of Medical Genetics, Clinical Biochemical Genetics Examination Book
`Item Writer – 2009 Exam
`Vice-Chair, Human Subjects Institutional Review Board 5, Baylor College of Medicine
`Associate Director, Medical Genetics Residency Program, Baylor College of Medicine
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`2003-2005
`2002-2005
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`PUBLICATIONS
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`PEER-REVIEWED ARTICLES
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`1. Sutton VR, Pan Y, Craigen WJ. Regional localization of the mouse argininosuccinate lyase gene to
`chromosome 5. Mammalian Genome 8:871, 1997
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`2. Shapira SK, McCaskill C, Northrup H, Spikes AS, Elder FFB, Sutton VR, Korenberg JR, Greenberg F,
`Shaffer LG: Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a
`common, newly-delineated syndrome. American Journal of Human Genetics 61(3):642-650, 1997
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`3. Wu Y, Sutton VR, Nickerson E, Lupski JR, Potocki L, Korenberg JR, Greenberg F, Tassabehji M, Shaffer
`LG: Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart
`defects, with ethnicity and parental origin. American Journal of Medical Genetics 78(1):82-89, 1998
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`4. Sutton VR, Shaffer LG. A search for imprinted regions on chromosome 14: comparison of maternal and
`paternal UPD cases with cases of chromosome 14 deletion. American Journal of Medical Genetics
`93(5):381-387, 2000
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`5. Scaglia F, Sutton VR, Bodamer OA, Vogel H, Shapira SK, Naviaux RK, Vladutiu GD. Mitochondrial DNA
`depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria. Journal
`of Child Neurology 16(2):136-138, 2001
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`6. Sutton VR, Coveler KJ, Lalani SR, Kashork CD, Shaffer LG. Telomere FISH uncovers Trisomy 14q:
`Lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms. American Journal
`of Medical Genetics 112(1):23-27, 2002
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`7. Coveler KJ, Yang SP, Sutton VR, Milstein JM, Wu YQ, Knox-DuBois C, Beischel LS, Johnson JP, Shaffer
`LG. A Case of Segmental Paternal Isodisomy of Chromosome 14. Human Genetics 110:251-256, 2002
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`8. McGowan KD, Weiser JJ, Horwitz J, Berend SA, McCaskill C, Sutton VR, Shaffer LG. The importance of
`investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements. Prenatal
`Diagnosis 22(2):141-143, 2002
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`9. Kashork CD, Sutton VR, Fonda Allen JS, Schmidt DE, Likhite ML, Potocki L, O'Brien WE, Shaffer LG. Low
`or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by
`fluorescence in situ hybridization and biochemical analysis. Prenatal Diagnosis 22(11):1028-1032, 2002
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`10. Sutton VR, McAlister WH, Bertin TK, Kaffe S, Wang JC, Yano S, Shaffer LG, Lee B, Epstein CJ, Villar
`AJ. Skeletal Defects in Paternal Uniparental Disomy for Chromosome 14 are Recapitulated in the
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`Mouse Model (Paternal Uniparental Disomy 12) Human Genetics 113:447-451, 2003
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`11. Murphy SK, Wylie AA, Coveler KJ, Cotter PD, Papenhausen PR, Sutton VR, Shaffer LG, Jirtle RL.
`Epigenetic detection of human chromosome 14 uniparental disomy. Human Mutation 22(1):92-97, 2003
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`12. Coveler KJ, Sutton VR, Knox-DuBois C, Shaffer LG. Comprehensive Microsatellite Marker Analysis
`Contradicts Previous Report of Segmental Maternal Heterodisomy of Chromosome 14. Journal of Medical
`Genetics 40(3):e26, 2003
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`13. Sutton VR, Pan Y, Davis EC, Beaudet AL, Craigen WJ. A Mouse Model of Argininosuccinic Aciduria:
`Biochemical characterization. Molecular Genetics and Metabolism 78(1):11-16, 2003
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`14. Sutton VR, O’Brien WE, Clark GD, Kim J, Wanders RJA. 3-Hydroxy-2-methylbutyryl-CoA Dehydrogenase
`Deficiency. Journal of Inherited Metabolic Disease 26(1):69-71, 2003
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`15. Sutton VR, Hopkins BJ, Gambhir N, Lewis RA, Van den Veyver IB. Facial and physical features of Aicardi
`syndrome: Infants to teenagers. American Journal of Medical Genetics 138(3):254-258, 2005
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`16. Amir RE, Sutton VR, Van den Veyver IB. Newborn screening and prenatal diagnosis for Rett syndrome:
`implications for therapy. Journal of Child Neurology 20(9):779-783, 2005
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`17. Rosa AL, Wu YQ, Kwabi-Addo B, Coveler KJ, Sutton VR, Shaffer LG. Allele-specific methylation of a
`functional CTCF binding site upstream of MEG3 in the human imprinted domain of 14q32. Chromosome
`Research 13(8):809-818, 2005
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`18. Sutton VR, Hyland JC, Phillips WA, Schlesinger AE, Brill PW. A Dominantly Inherited
`Spondylometaphyseal Dysplasia with “Corner Fractures” and Congenital Scoliosis. American Journal of
`Medical Genetics 133A:209-212, 2005
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`19. Wang X*, Sutton VR*, Peraza-Llanes JO, Yu Z, Rosetta R, Kou YC, Eble TN, Patel A, Thaller C, Fang P,
`Van den Veyver IB. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal
`hypoplasia. Nature Genetics 39(7):836-838, 2007 *These authors contributed equally to this work
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`20. Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, Pursley A, Li J, Erickson R, Gropman AL,
`Miller DT, Seashore MR, Summers AM, Stankiewics P, Chinault AC, Lupski JR, Beaudet AL, Sutton, VR.
`Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics.
`American Journal of Medical Genetics 143(15):1679-1686, 2007
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`21. Glasmacher MAK, Sutton VR, Hopkins BJ, Eble T, Lewis RA, Park-Parsons D, Van den Veyver IB.
`Phenotype and management of Aicardi syndrome: New findings from a survey of 69 children. Journal of
`Child Neurology 22(2):176-184, 2007
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`22. Brunetti-Pierri N, Seidel FG, Levy ML, Sutton VR. Parkes Weber syndrome occurring in a family with
`capillary malformations. Clinical Dysmorphology 16(3):167-171, 2007
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`23. Probst FJ, Roeder ER, Enciso VB, Ou Z, Cooper ML, Eng P, Li J, Gu Y, Stratton RF, Chinault AC, Shaw CA,
`Sutton VR, Cheung SW, Nelson DL. Chromosome microarrray analysis (CMA) detects a large X
`chromosome deletion including FMR1, FMR2 and IDS in a female patient with mental retardation. American
`Journal of Medical Genetics 143(12):1358-1365, 2007
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`24. Berg JS, French SL, McCullough LB, Kleppe S, Sutton VR, Gunn SK, Karaviti LP. Ethical and legal
`implications of genetic testing in androgen insensitivity syndrome. Journal of Pediatrics 150(4):434-438,
`2007
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`25. Shchelochkov OA, Patel A, Weissenberger GM, Chinault AC, Wiszniewska J, Fernandes PH, Eng C,
`Kukolich MK, Sutton, VR. Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan
`syndrome. American Journal of Medical Genetics 146(8):1042-1048, 2008
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`26. Hopkins B, Sutton VR, Lewis RA, Van den Veyver IB, Clark G. Neuroimaging aspects of Aicardi syndrome.
` American Journal of Medical Genetics A 146A(22):2871-2878, 2008
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`27. Isackson PJ, Bennett MJ, Lichter-Konecki U, Willis M, Nyhan WL, Sutton VR, Tein I, Vladutiu GD. CPT2
`gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.
`Molecular Genetics and Metabolism 94(4):422-427, 2008
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`28. Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J,
`Chinault AC, Lupski JR, Cheung SW, Roeder E, Patel A. Microduplications of 22q11.2 are frequently
`inherited and are associated with variable phenotypes. Genetics in Medicine 10(4):267-277, 2008
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`29. Williams K, Scheimann A, Sutton V, Hayslett B, Glaze DG. Sleepiness and Sleep-Disordered Breathing in
`Prader-Willi Syndrome - Relationship to Genotype, Growth Hormone Therapy and Body Composition.
`Journal of Clinical Sleep Medicine 4(2):111-8, 2008
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`30. Shinawi M, Shao I, Jeng LJB, Shaw CA, Patel A, Bacino C, Sutton VR, Belmont J, Cheung SW. Low-level
`mosaicism of trisomy 14: phenotype and molecular characterization. American Journal of Medical
`Genetetics 1;146A(11):1395-405, 2008
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`31. Ben-Sachar S, Ou Z, Shaw C, Belmont J, Patel MS, Hummel M, Amato S, Tartaglia N, Berg J, Sutton VR,
`Lalani SR, Chinault C, Cheung SW, Lupski JR, Patel A. 22q11.2 distal deletion: A novel recurrent genomic
`disorder distinct from DiGeorge syndrome/velocardiofacial syndrome. American Journal of Human Genetics
`82(1):214-221, 2008
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`32. Eble TN, Sutton VR, Sangi-Hachpeykar H, Wang X, Jin W, Lewis RA, Fang P, Van den Veyver IB. Non-
`random X chromosome inactivation in Aicardi syndrome. Human Genetics 125(2):211-216, 2009
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`33. Sutton VR, Plunkett K, Dang DX, Lewis RA, Bree AF, Bacino CA. Craniofacial and anthropometric
`phenotype in ankyloblepharon-ecotdermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a
`cohort of 17 patients. American Journal of Medical Genetics 149A(9):1916-1921, 2009
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`34. Yang SY, He, XY, Oplin SE, Sutton VR, McMenamin J, Philipp M, Denman RB, Malik M. Mental retardation
`linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism. PNAS
`106(35):14820-14824, 2009
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`35. Wang X, Sutton VR, Eble TN, Lewis RA, Gunaratne P, Patel A, Van den Veyver IB. A genome-wide screen
`for copy number alterations in Aicardi syndrome. American Journal of Medical Genetics 149A(10):2113-
`2121, 2009
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`36. Nagamani SCS, Erez A, Shen J, Li C, Roeder E, Cox S, Karaviti, L, Pearson M, Kang SL, Sahoo T, Lalani
`SR, Stankiewicz P, Sutton VR, Chueng SW. Clinical spectrum associated with recurrent genomic
`rearrangements in chromosome 17q12. European Journal of Human Genetics 18(3):278-284, 2010
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`37. Mendez-Figueroa H, Lamance K, Sutton VR, Aagaard-Tillery K, Van den Veyver I. Management of
`ornithine transcarbamylase deficiency in pregnancy. American Journal of Perinatology 27(10):775-784, 2010
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`38. Erez A, Plunkett K, Sutton VR (corresponding), McGuire AL. The right to ignore genetic status of late onset
`genetic disease in the genomic era; prenatal testing for Huntington disease as a paradigm. American
`Journal of Medical Genetics 152A(7):1774-1780, 2010
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`39. Dhar SU, Taylor T, Trinh C, Sutton VR. Cranio-meta-diaphyseal dysplasia: 25 year follow-up and review of
`literature. American Journal of Medical Genetics 152A(9):2335-2338, 2010
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`40. Fruhman G, El-Hattab AW, Belmont JW, Patel A, Cheung SW, Sutton VR. Suspected trisomy 22:
`Modicifation, clarification, or confirmation of the diagnosis by aCGH. American Journal of Medical Genetics
`155A(2):434-438, 2011
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`41. Fernandes PH, Wen S, Sutton VR, Ward PA, Van den Veyver IB, Fang P. PORCN mutations and variants
`identified in patients with focal dermal hypoplasia through diagnostic gene sequencing. Genetic Testing and
`Molecular Biomarkers 14(5):709-713, 2010
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`42. Brunetti-Pierri N, Paciorkowski AR, Ciccone R, Mina ED, Bonaglia MC, Borgatti R, Schaaf CP, Sutton VR,
`Xia Z, Jelluma N, Ruivenkamp C, Bertrand M, de Ravel TJ, Jayakar P, Belli S, Rocchetti K, Pantaleoni C,
`D’Arrigo S, Hughes J, Cheung SW, Zuffardi O, Stankiewicz P. Duplications of FOXG1 in 14q12 are
`associated with developmental epilepsy, mental retardation, and severe speech impairment. European
`Journal of Human Genetics 19(1):102-107, 2011
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`43. Liu P, Erez A, Sreenath Nagamani SC, Bi W, Carvalho CM, Simmons AD, Wiszniewska J, Fang P, Eng PA,
`Cooper ML, Sutton VR, Roeder ER, Bodensteiner JB, Delgado MR, Prakash SK, Belmont JW, Stankiewicz
`P, Berg JS, Shinawi M, Patel A, Cheung SW, Lupski JR. Copy number gain at Xp22.31 includes complex
`duplication rearrangements and recurrent triplications. Human Molecular Genetics 20(10):1975-1988, 2011
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`44. Iacobas I, Burrows PE, Adams DM, Sutton VR, Hollier LH, Chintagumpala MM. Oral rapamycin in the
`treatment of patients with hamartoma syndromes and PTEN mutation. Pediatric Blood & Cancer
`57(2):321-323, 2011
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`45. Sutton VR, Chapman KA, Gropman AL, MacLeod E, Stagni K, Summar ML, Ueda K, Ah Mew N, Franks
`J, Island E, Matern D, Pena L, Smith B, Urv T, Venditti C, Chakrapani A. Chronic management and
`health supervision of individuals with propionic acidemia. Molecular Genetics and Metabolism 105(1):
`26-33, 2011
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`46. Pena L, Franks J, Chapman KA, Gropman A, Ah Mew N, Chakrapani A, Island E, Macleod E, Matern D,
`Smith B, Stagni K, Sutton VR, Ueda K, Urv T, Venditti C, Enns GM, Summar ML. Natural history of
`propionic acidemia. Molecular Genetics and Metabolism 105(1): 5-9, 2011
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`47. Chapman KA, Gropman A, Macleod E, Stagni K, Summar ML, Ueda K, Mew NA, Franks J, Island E,
`Matern D, Pena L, Smith B, Sutton VR, Urv T, Venditti C, Chakrapani A. Acute management of
`propionic acidemia. Molecular Genetics and Metabolism 105(1):16-25, 2011
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`48. Schreiber J, Chapman KA, Summar ML, Mew NA, Sutton VR, Macleod E, Stagni K, Ueda K, Franks J,
`Island E, Matern D, Pena L, Smith B, Urv T, Venditti C, Chakrapani A, Gropman AL. Neurologic
`considerations in propionic acidemia. Molecular Genetics and Metabolism 105(1):10-15, 2011
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`49. Martinez HR, Niu MC, Sutton VR, Pignatelli R, Vatta M, Jeffries JL. Coffin-Lowry syndrome and left
`ventricular noncompaction cardiomyopathy with a restrictive pattern. American Journal of Medical
`Genetics A 155(12):3030-3034, 2011
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`50. Agadi S, Sutton VR, Quach MM, Riviello JJ Jr. The electroencephalogram in neonatal maple syrup
`urine disease: a case report. Clinical EEG and Neuroscience 43(1):64-67, 2012
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`51. Gana S, Veggiotti P, Sciacca G, Bersano A, Micieli G, Maghnie M, Ciccone R, Rossi E, Plunkett K, Bi W,
`Sutton VR, Zuffardi O. 19q13.11 cryptic deletion: description of two new cases and indication for a role
`of WTIP haploinsufficiency in hypospadias. European Journal of Human Genetics 20(8):852-856, 2012
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`52. Douglas G, Axelrad ME, Brandt ML, Crabtree E, Dietrich JE, French S, Gunn S, Karaviti L, Lopez ME,
`Macias CG, McCullough LB, Suresh D, Austin E, Sutton VR. Guidelines for evaluating and managing
`children born with disorders of sexual development. Pediatric Annals 41(4):e1-7, 2012
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`53. Robin NH, Sutton VR, Caldwell J, Jackson J, Irons M, Demmer L. The development and
`implementation of an in-service exam for medical genetics residency programs. Genetics in Medicine
`14(5):552-557, 2012
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`54. Fruhman G, Eble TN, Gambir N, Sutton VR, Van den Veyver IB, Lewis RA. Ophthalmologic findings in
`Aicardi syndrome. Journal of the American Academy of Pediatric Ophthalmology and Strabismus
`16(3):238-241, 2012
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`55. Stark RJ, Naik-Mathuria BJ, Lam FW, Olutoye OO, Sutton VR, Shekerdemian LS. Extracorporeal
`membrane oxygenation support of a severe metabolic crisis in a child with methylmalonic acidemia.
`American Society for Artificial Internal Organs Journal 58(4):438-439, 2012
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`56. Lindhurst MJ, Parker VE, Payne F, Sapp JC, Rudge S, Harris J, Witkowski AM, Zhang TN, Geer J,
`Gucev Z, Sutton VR, Tziotzios C, Dixon AK, Helliwell T, O’Rahilly S, Savage DB, Wakelam MJ, Barroso
`I, Biesecker LG, Semple RK. Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic
`activating mutations in PIK3CA. Nature Genetics 44(8):928-933, 2012
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`57. Burrage LC, McConnell J, Haesler R, O’Riordan MA, Sutton VR, Kerr DS. High prevalence of
`overweight and obesity in females with phenylketonuria. Molecular Genetics and Metabolism 107(1-
`2):43-48, 2012
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`58. Schwarze U, Cundy T, Pyott SM, Christiansen HE, Hedge MR, Bank RA, Pals G, Ankala A, Conneely K,
`Seaver L, Yandow SM, Raney E, Babovic-Vuksanovic D, Hudgins L, McPherson E, Clemens M,
`Sussman MD, Steiner RD, Mahan J, Smith R, Anyane-Yeboa K, Wynn J, Chong K, Uster T, Aftimos S,
`Sutton VR, Davis EC, Kim LS, Weis MA, Eyre D, Byers PH. Mutations in FKBP10, which result in Bruck
`syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide
`lysines in bone collagen. Human Molecular Genetics 22(1):1-17, 2012
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`59. Bainbridge MN, Hu H, Muzny DM, Musante L, Lupski JR, Graham BH, Chen W, Gripp KW, Jenny K,
`Wienker TF, Yang Y, Sutton VR, Gibbs RA, Ropers HH. De novo truncating mutations in ASXL3 are
`associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Medicine
`5(2):11, 2013
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`60. Hamosh A, Sobreira N, Hoover-Fong J, Sutton VR, Boehm C, Schiettecatte F, Valle D. PhenoDB: A
`new web-based tool for the collection, storage and analysis of phenotypic features. Human Mutation
`34(4):566-571, 2013
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`61. Sule G, Campeau PM, Zhang VW, Nagamani SCS, Dawson BC, Grover M, Bacino CA, Sutton VR,
`Brunetti-Pierri N, Lu JT, Lemire E, Gibbs RA, Cohn DH, Cui H, Wong L-J, Lee BH. Next-generation
`sequencing for disorders of low and high bone mineral density. Osteoporosis International 24(8):2253-
`2259, 2013
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`62. Chandler RJ, Tarasenko TN, Cusmano-Ozog K, Sun Q, Sutton VR, Venditti CP, McGuire PJ. Liver-
`directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia
`type 1. Gene Therapy 20(12):1188-1191, 2013
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`63. Prada CE, Gonzaga-Jauregui C, Tannenbaum R, Penney S, Lupski JR, Hopkin RJ, Sutton VR. Clinical
`utility of whole-exome sequencing in rare diseases: Galactosialidosis. European Journal of Medical
`Genetics 57(7):339-344, 2014
`
`64. Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Parker VE, Blumhorst C, Darling T, Tosi LL, Huson SM,
`Whitehouse RW, Jakkula E, Grant I, Balasubramanian M, Chandler KE, Fraser JL, Gucev Z, Crow YJ,
`Brennan LM, Clark R, Sellars EA, Pena LD, Krishnamurty V, Shuen A, Braverman N, Cunningham ML,
`Sutton VR, Tasic V, Graham JM Jr, Greer J Jr, Henderson A, Semple RK, Biesecker LG. Clinical
`delineation and natural history of the PIK3CA-related overgrowth spectrum. American Journal of Medical
`Genetics 164(7):1713-1733, 2014
`
`65. Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL,
`Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE,
`Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA. De novo truncating mutations in
`AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. American
`Journal of Human Genetics 94(5):784-789, 2014
`
`66. Miller MJ, Soler-Alfonso CR, Grund JE, Fang P, Sun Q, Elsea SH, Sutton VR. Improved standards for
`prenatal diagnosis of citrullinemia. Molecular Genetics and Metabolism 112(3):205-209, 2014
`
`67. Emrick LT, Murphy L, Shamshirsaz AA, Ruano R, Cassady CI, Liu L, Chang F, Sutton VR, Li M, Van
`den Veyver IB. Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA
`mutation in cultured amniocytes. American Journal of Medical Genetics 164A(10):2633-2637, 2014
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`68. Ross J, Busch J, Mintz E, Ng D, Stanley A, Brafman D, Sutton VR, Van den Veyver I, Willert K. A rare
`human syndrome provides genetic evidence that WNT signaling is required for reprogramming of fibroblasts
`to induced pluripotent stem cells. Cell Reports 9(5):1770-1880, 2014
`
`69. Wu N, Ming X, Xiao J, Wu X, Chen X, Shinawi M, Shen Y, Yu G, Liu J, Xie H, Gucev ZS, Liu S, Yang N, Al-
`Kateb H, Chen J, Zhang J, Hauser N, Zhang T, Tasic V, Liu P, Su X, Pan X, Liu C, Wang L, Shen J, Shen J,
`Chen Y, Zhang T, Zhang J, Choy KW, Wang J, Wang Q, Li S, Zhou W, Guo J, Wang Y, Zhang C, Zhao H,
`An Y, Zhao Y, Wang J, Liu Z, Zuo Y, Tian Y, Weng X, Sutton VR, Wang H, Ming Y, Kulkarni S, Zhong TP,
`Giampietro PF, Dunwoodie SL, Cheung SW, Zhang X, Jin L, Lupski JR, Qiu G, Zhang F. TBX6 null variants
`and a common hypomorphic allele in congenital scoliosis. New England Journal of Medicine 372(4):341-350,
`2015
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`70. Yuan B, Pehlivan D, Karaca E, Patel N, Charng W-L, Gambin T, Gonzaga-Jauregui C, Sutton VR, Yesil G,
`Bozdogan ST, Tos T, Koparir A, Koparir E, Beck CR, Gu S, Aslan H, Yuregir OO, Al Rubeaan K, Alnaqeb D,
`Alshammari MJ, Bayram Y, Atik MM, Aydin H, Geckinli B, Seven M, Ulucan H, Fenercioglu E, Ozen M,
`Jhangiani S, Muzny DM, Boerwinkle E, Baylor-Hopkins Center for Mendelian Genomics, Tuysuz B, Alkuraya
`FS, Gibbs RA, Lupski JR. Global transcriptional disturbances underlie Cornelia de Lange syndrome and
`related phenotypes. Journal of Clinical Investigation, 125(2):636-651, 2015
`
`71. Patel RM, Nagamani SC, Cuthbertson D, Campeau PM, Krischer JP, Shapiro JR, Steiner RD, Smith PA,
`Bober MB, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Lee BH, Hart T, Sutton VR. A cross-
`sectional multicenter study of osteogenesis imperfecta in North America – results from the linked clinical
`research centers. Clinical Genetics 87:133-140, 2015
`
`72. White J, Mazzeu JF, Hoischen A, Jhangiani SN, Gambin T, Alcino MC, Penney S, Saraiva JM, Hove H,
`Skovby F, Kayserili H, Estrella E, Vulto-van Silfhout AT, Steehouwer M, Muzny DM, Sutton VR, Gibbs
`RA, Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Brunner HG, van Bon BWM, Carvalho
`CMB. DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow
`syndrome. American Journal of Human Genetics 96(4):612-622, 2015
`
`73. Miller MJ, Kennedy AD, Eckhart AD, Burrage LC, Wulff JE, Miller LA, Milburn MV, Ryals JA, Beaudet AL,
`Sun Q, Sutton VR, Elsea SH. Untargeted metabolomics analysis for the clinical screening of inborn
`errors of metabolism. Journal of Inherited Metabolic Diseases 38(6):1029-1039, 2015
`
`74. Atwal PS, Donti TR, Cardon AL, Bacino CA, Sun Q, Emrick L, Sutton VR, Elsea SH. Aromatic l-amino
`acid decarboxylase deficiency diagnosed by clinical metabolomics profiling of plasma. Molecular
`Genetics and Metabolism 115(2-3):91-4, 2015
`
`75. Burton BK, Berger KI, Lewis GD, Tarnopolsky M, Treadwell M, Mitchell JJ, Muschol N, Jones SA,
`Sutton VR, Pastores GM, Lau H, Sparkes R, Genter F, Shaywitz AJ, Harmatz P. Safety and
`physiological effects of two different doses of elosulfase alfa in patients with Morquio A syndrome: A
`randomized, double-blind, pilot study. American Journal of Medical Genetics A 167(10):2272-2281, 2015
`
`76. Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ,
`Wiszniewski W, Gambin T, Akdemir ZHC, Hoover-Fong J, Mathews D, Witmer PD, Ling H, Hetrick K,
`Watkins L, Patterson KE, Reinier F, Blue E, Muzny D, Kircher M, Bilguvar K, Lopez-Giraldez F, Sutton
`VR, Tabor HK, Leal SM, Gunel M, Mane S, Gibbs RA, Boerwinkle E, Hamosh A, Shendure J, Lupski JR,
`Lifton RP, Valle D, Nickerson DA, Centers for Mendelian Genomics, Bamshad MJ. The genetic basis of
`Mendelian phenotypes: Discoveries, challenges and opportunities. American Journal of Human Genetics
`97(2):199-215, 2015
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`77. Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham
`BH, Craigen WJ, Zhang VW, Wong LC. Recurrent ACADVL molecular findings in individuals with a
`positive newborn screen for very long chain acyl-CoA dehydrogenase (VLCAD) deficiency in the United
`States. Molecular Genetics and Metabolism 116(3):139-145, 2015
`
`78. Bellur S, Jain M, Cuthbertson D, Krakow D, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T,
`Krischer J, Mullins M, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Sutton VR, Lee B,
`Members of the BBD Consortium, Nagamani SC. Cesarean delivery is not associated with decreased at-
`birth fracture rates in osteogenesis imperfecta. Genetics in Medicine 18(6):570-576, 2016
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`79. Burrage LC, Miller MJ, Wong LJ, Kennedy AD, Sutton VR, Sun Q, Elsea SH, Graham BH. Elevations of
`C14:1 and C14:2 plasma acylcarnitines in fasted children: a diagnostic dilemma. Journal of Pediatrics
`169:208-213, 2016
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`80. Posey JE, Rosenfeld JA, James RA, Bainbridge M, Niu Z, Wang X, Dhar S, Wiszniewski W, Akdemir
`ZHC, Gambin T, Xia F, Person RE, Walkiewicz M, Shaw CA, Sutton VR, Beaudet AL, Muzny D, Eng
`CM, Yang Y, Gibbs RA, Lupski JR, Boerwinkle E, Plon SE. Molecular diagnostic experience of whole-
`exome sequencing in adult patients. Genetics in Medicine 18(7):678-685, 2016
`
`81. Bostwick B, Fang P, Patel A, Sutton VR. Phenotypic and molecular characterization of focal dermal
`hypoplasia in 18 individuals. American Journal of Medical Genetics Part C 172(1):9-20, 2016
`
`82. White J, Beck CR, Harel T, Posey JE, Jhangiani SN, Tang S, Farwell KD, Powis Z, Mendelsohn NJ,
`Baker JA, Pollack L, Mason KJ, Wierenga KJ, Arrington DK, Hall M, Psychogios A, Fairbrother L,
`Walkiewicz M, Person RE, Niu Z, Zhang J, Rosenfeld JA, Muzny DM, Eng C, Beaudet AL, Lupski JR,
`Boerwinkle E, Gibbs RA, Yang Y, Xia F, Sutton VR. POGZ truncating alleles cause syndromic
`intellectual disability. Genome Medicine 8(1):3, 2016
`
`83. Reijinders MR, Zachariadis V, Latour B, Jolly L, Mancini GM, Pfundt R, Wu KM, van Ravenswaaij-Arts
`CM, Veenstra-Knol HE, Anderlid BM, Wood SA, Cheung SW, Barnicoat A, Probst F, Magoulas P,
`Brooks AS, Malmgren H, Harila-Saari A, Marcelis CM, Vreeburg M, Hobson E, Sutton VR, Stark Z, Vogt
`J, Cooper N, Lim JY, Price S, Lai AH, Domingo D, Reversade B; DDD Study, Gecz J, Gilissen C,
`Brunner H, Kini U, Roepman R, Nordgren A, Kleefstra T. De novo loss-of-function mutations in USP9X
`cause a female-specific recognizable syndrome with developemtal delay and congenital malformations.
`American Journal of Human Genetics 98(2)373-381, 2016
`
`84. McGuire AL, Moore Q, Majumder M, Walkiewicz M, Eng C, Belmont J, Nassef S, Darilek S, Rutherford
`K, Pereira S, Scherer S, Sutton VR, Wolf D, Gibbs R, Kahn R, Sanchez LA. The ethics of conducting
`molecular autopsies in cases of sudden death in the young. Genome Research 26(9):1165-1169, 2016
`
`85. Miller MJ, Bostwick BL, Kennedy AD, Donti TR, Sun Q Sutton VR, Elsea SH. Chronic oral L-carnitine
`supplementation drives marked plasma TMAO elevations in patients with organic acidemias despite
`dietary meat restriction. Journal of Inherited Metabolic Diseases Reports 30:39-44, 2016
`
`86. White JJ, Mazzeu JF, Hoischen A, Bayram Y, Withers M, Gezdirici A, Kimonis V, Steenhouwer M,
`Jhangiani SN, Muzny D, Gibbs RA, Baylor-Hopkins Center for Mendelian Genomics, van Bon BW,
`Sutton VR, Lupski JR, Brunner HG, Carvalho CM. DVL3 alleles resulting in a -1 frameshift of the last
`exon mediate autosomal-dominant Robinow syndrome. American Journal of Human Genetics 98(3):553-
`561, 2016
`
`87. Atwal PS, Medina CR, Burrage LC, Sutton VR. Ninteen-year follow-up of a patient with severe
`glutathione synthetase deficiency. Journal of Human Genetics 61(7):669-672, 2016
`
`88. Romere C, Duerrschmid C, Bournat J, Constable P, Jain M, Xia F, Saha PK, Del Solar M, Zhu B, York
`B, Sarkar P, Rendon RA, Gaber MW, LeMaire SA, Coselli JS, Milewicz DM, Sutton VR, Butte NF,
`Moore DD, Chopra AR. Asprosin, a fasting-induced glucogenic protein hormone. Cell 165(3):566-579,
`2016
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`89. Kennedy AD, Miller MJ, Beebe K, Wulff JE, Evans AM, Miller