Vernon Reid Sutton

MD
Medical Director, Biochemical Genetics

V. Reid Sutton, M.D. is a physician scientist, clinical and biochemical geneticist with expertise in the diagnosis and management of inborn errors of metabolism. He is a professor in the Department of Molecular & Human Genetics at Baylor College of Medicine, the Medical Director of the Baylor Biochemical Genetics Laboratory and the Director of the Inborn Errors of Metabolism service at Texas Children’s Hospital. He has authored numerous peer reviewed articles and chapters on inborn errors of metabolism. These range from basic science publications to patient care and laboratory management guidelines running the gamut from common diseases, such as urea cycle disorders, organic acidemias, fatty acid oxidation disorders, to rare conditions such as creatine deficiency syndromes and disorders of purine and pyrimidine biosynthesis and degradation. He has served on the CDC Clinical Laboratory Advisory Committee for Biochemical Genetics and the Texas Newborn Screening Advisory Committee. He is currently the Chair of the American Board of Medical Genetics and Genomics and is a past Book Chief for the Biochemical Genetics certification examination and has served as a faculty member at the Society of Inherited Metabolic Diseases, North American Metabolic Academy.

Position

Professor
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, United States

Medical Director
Biochemical Genetics
Baylor Genetics
Houston, TX, United States

Director
Medical Genetics Residency Program
Baylor College of Medicine
Houston, TX, United States

Director
ABMGG Diagnostic Laboratory Training Programs
Baylor College of Medicine
Houston, TX, United States

Director
Inborn Errors of Metabolism Service
Texas Children’s Hospital
Houston, TX, United States

Education

Clinical Fellowship at Baylor College of Medicine
Medical Genetics
Houston, TX, United States

Residency at Washington University Affiliate Hospitals
Pediatrics
St. Louis, MO, United States

MD from University of Kentucky College of Medicine
Lexington, KY, United States

BA from Transylvania University, Kentucky
Lexington, KY, United States

Certifications

Clinical Genetics
American Board of Medical Genetics

Clinical Biochemical Genetics
American Board of Medical Genetics

Publications
Reanalysis of Clinical Exome Sequencing Data

Liu, P., Meng, L., Normand, E.A., Xia, F., Song, X., Ghazi, A., Rosenfeld, J., Magoulas, P.L., Braxton, A., Ward, P., Dai, H., Yuan, B., Bi, W., Xiao, R., Wang, X., Chiang, T., Vetrini, F., He, W., Cheng, H., Dong, J., Gijavanekar, C., Benke, P.J., Bernstein, J.A., Eble, T., Eroglu, Y., Erwin, D., Escobar, L., Gibson, J.B., Gripp, K., Kleppe, S., Koenig, M.K., Lewis, A.M., Natowicz, M., Mancias, P., Minor, L., Scaglia, F., Schaaf, C.P., Streff, H., Vernon, H., Uhles, C.L., Zackai, E.H., Wu, N., Sutton, V.R., Beaudet, A.L., Muzny, D., Gibbs, R.A., Posey, J.E., Lalani, S., Shaw, C., Eng, C.M., Lupski, J.R., and Yang, Y. (2019). Reanalysis of Clinical Exome Sequencing Data. N Engl J Med 380, 2478-2480. PMID: 31216405

Dissection of Disease Phenotypes of Multiple Genetic Causes

Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR. Dissection of Disease Phenotypes of Multiple Genetic Causes. N Engl J Med. 376(1):21-31, 2017. PMID: 27959697

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 Jan 5;376(1):21. PMID: 27959697

Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism

Kennedy AD, Miller MJ, Beebe K, Wulff JE, Evans AM, Miller LA, Sutton VR, Sun Q, Elsea SH. Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism. Genet Test Mol Biomarkers. 2016 Sep;20(9):485-95. PMID: 27448163

Molecular diagnostic experience of whole-exome sequencing in adult patients

Posey JE, Rosenfeld JA, James RA, Bainbridge M, Niu Z, Wang X, Dhar S, Wiszniewski W, Akdemir ZH, 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. Genet Med. 2016 Jul;18(7):678. PMID: 26633545

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

Donti TR, Cappuccio G, Hubert L, Neira J, Atwal PS, Miller MJ, Cardon AL, Sutton VR, Porter BE, Baumer FM, Wangler MF, Sun Q, Emrick LT, Elsea SH. Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. Mol Genet Metab Rep. 2016 Jul 27;8:61-6. PMID: 27504266

Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma

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. J Pediatr. 2016 Feb;169:208-13.e2. PMID: 26602010

Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism

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 metabolomic analysis for the clinical screening of inborn errors of metabolism. J Inherit Metab Dis. 2015 Nov;38(6):1029-39. PMID: 25875217

TBX6 null variants and a common hypomorphic allele in congenital scoliosis

Wu, N., Ming, X., Xiao, J., Wu, Z., Chen, X., Shinawi, M., Shen, Y., Yu, G., Liu, J., Xie, H., Gucev, Z.S., 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, K.W., 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, V.R., Wang, H., Ming, Y., Kulkarni, S., Zhong, T.P., Giampietro, P.F., Dunwoodie, S.L., Cheung, S.W., Zhang, X., Jin, L., Lupski, J.R., Qiu, G., and Zhang, F. (2015). TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med 372, 341-350. PMID: 25564734

TP63-Related Disorders

Sutton VR, van Bokhoven H. TP63-Related Disorders. In: Pagon RA, Adam MP, Ardinger HH, Wallace S. 2015 August 6 Pubmed PMID: 20556892

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N,…, 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. Am J Hum Genet. 2015 August 6;97(2):199-215. Pubmed PMID: 26166479

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome

White J, Mazzeu JF, Hoischen A, Jhangiani SN, …, Muzny DM, Sutton VR, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Brunner HG, van Bon BW, Carvalho CM. DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet. 2015 April 2;96:612-22. Pubmed PMID: 25817016

A cross-sectional multicenter study of osteogenesis imperfecta in North America – results from the linked clinical research centers

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. Clin Genet. 2015 February;87:133-40. Pubmed PMID: 24754836

Aicardi Syndrome

Sutton VR, Van den Veyver IB. Aicardi Syndrome. In: Pagon RA, Adam MP, Ardinger HH, Wallace S. 2014 November 6 Pubmed PMID: 20301555

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea

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. Am J Hum Genet. 2014 May 1;94(5):784. PMID: 24791903

Improved standards for prenatal diagnosis of citrullinemia

Miller MJ, Soler-Alfonso CR, Grund JE, Fang P, Sun Q, Elsea SH, Sutton VR. Improved standards for prenatal diagnosis of citrullinemia. Mol Genet Metab. 2014 July;112(3):205-9. Pubmed PMID: 24889030

Focal Dermal Hypoplasia

Sutton VR, Van den Veyver IB. Focal Dermal Hypoplasia. In: Pagon RA, Adam MP, Ardinger HH, Wallace S. 2013 April 11 Pubmed PMID: 20301712

Chronic management and health supervision of individuals with propionic acidemia

Sutton VR, Chapman KA, Gropman AL, Macleod E, Stagni K, Summar ML, Ueda K, Ah Mew N, Franks J, Island E, Matern D, Peña L, Smith B, Urv T, Venditti C, Chakarapani A. Chronic management and health supervision of individuals with propionic acidemia.. Mol. Genet. Metab.. 2012 January;105(1):26-33. Pubmed PMID: 21963082

Guidelines for evaluating and managing children born with disorders of sexual development

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, Reid Sutton V. Guidelines for evaluating and managing children born with disorders of sexual development.. Pediatr Ann.. 2012;41(4):e1-7. Pubmed PMID: 22494213

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

Liu, P., Erez, A., Nagamani, S.C., Bi, W., Carvalho, C.M., Simmons, A.D., Wiszniewska, J., Fang, P., Eng, P.A., Cooper, M.L., Sutton, V.R., Roeder, E.R., Bodensteiner, J.B., Delgado, M.R., Prakash, S.K., Belmont, J.W., Stankiewicz, P., Berg, J.S., Shinawi, M., Patel, A., Cheung, S.W., and Lupski, J.R. (2011). Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet 20, 1975-1988. PMID: 21355048

A genome-wide screen for copy number alterations in Aicardi syndrome

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.. Am. J. Med. Genet. A. 2009 October;149(10):2113-21. Pubmed PMID: 19760649

Non-random X chromosome inactivation in Aicardi syndrome

Eble TN, Sutton VR, Sangi-Haghpeykar H, Wang X, Jin W, Lewis RA, Fang P, Van den Veyver IB. Non-random X chromosome inactivation in Aicardi syndrome.. Hum. Genet.. 2009 March;125(2):211-6. Pubmed PMID: 19116729

Neuroimaging aspects of Aicardi syndrome

Hopkins B, Sutton VR, Lewis RA, Van den Veyver I, Clark G. Neuroimaging aspects of Aicardi syndrome.. Am. J. Med. Genet. A. 2008 November 15;146(22):2871-8. Pubmed PMID: 18925666

Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

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, Stankiewicz P, Chinault AC, Lupski JR, Beaudet AL, Sutton VR. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics.. Am. J. Med. Genet. A. 2007 August 1;143(15):1679-86. Pubmed PMID: 17607705

Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

Wang X*, Sutton VR*, Peraza O, 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.. Nat Genet.. 2007;39(7):836-8. Pubmed PMID: 17546030

Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children

Glasmacher MA, Sutton VR, Hopkins B, 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.. J. Child Neurol.. 2007 February;22(2):176-84. Pubmed PMID: 17621479

Vernon Reid Sutton

MD
Medical Director, Biochemical Genetics

V. Reid Sutton, M.D. is a physician scientist, clinical and biochemical geneticist with expertise in the diagnosis and management of inborn errors of metabolism. He is a professor in the Department of Molecular & Human Genetics at Baylor College of Medicine, the Medical Director of the Baylor Biochemical Genetics Laboratory and the Director of the Inborn Errors of Metabolism service at Texas Children’s Hospital. He has authored numerous peer reviewed articles and chapters on inborn errors of metabolism. These range from basic science publications to patient care and laboratory management guidelines running the gamut from common diseases, such as urea cycle disorders, organic acidemias, fatty acid oxidation disorders, to rare conditions such as creatine deficiency syndromes and disorders of purine and pyrimidine biosynthesis and degradation. He has served on the CDC Clinical Laboratory Advisory Committee for Biochemical Genetics and the Texas Newborn Screening Advisory Committee. He is currently the Chair of the American Board of Medical Genetics and Genomics and is a past Book Chief for the Biochemical Genetics certification examination and has served as a faculty member at the Society of Inherited Metabolic Diseases, North American Metabolic Academy.

Position

Professor
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, United States

Medical Director
Biochemical Genetics
Baylor Genetics
Houston, TX, United States

Director
Medical Genetics Residency Program
Baylor College of Medicine
Houston, TX, United States

Director
ABMGG Diagnostic Laboratory Training Programs
Baylor College of Medicine
Houston, TX, United States

Director
Inborn Errors of Metabolism Service
Texas Children’s Hospital
Houston, TX, United States

Education

Clinical Fellowship at Baylor College of Medicine
Medical Genetics
Houston, TX, United States

Residency at Washington University Affiliate Hospitals
Pediatrics
St. Louis, MO, United States

MD from University of Kentucky College of Medicine
Lexington, KY, United States

BA from Transylvania University, Kentucky
Lexington, KY, United States

Certifications

Clinical Genetics
American Board of Medical Genetics

Clinical Biochemical Genetics
American Board of Medical Genetics

Publications
Reanalysis of Clinical Exome Sequencing Data

Liu, P., Meng, L., Normand, E.A., Xia, F., Song, X., Ghazi, A., Rosenfeld, J., Magoulas, P.L., Braxton, A., Ward, P., Dai, H., Yuan, B., Bi, W., Xiao, R., Wang, X., Chiang, T., Vetrini, F., He, W., Cheng, H., Dong, J., Gijavanekar, C., Benke, P.J., Bernstein, J.A., Eble, T., Eroglu, Y., Erwin, D., Escobar, L., Gibson, J.B., Gripp, K., Kleppe, S., Koenig, M.K., Lewis, A.M., Natowicz, M., Mancias, P., Minor, L., Scaglia, F., Schaaf, C.P., Streff, H., Vernon, H., Uhles, C.L., Zackai, E.H., Wu, N., Sutton, V.R., Beaudet, A.L., Muzny, D., Gibbs, R.A., Posey, J.E., Lalani, S., Shaw, C., Eng, C.M., Lupski, J.R., and Yang, Y. (2019). Reanalysis of Clinical Exome Sequencing Data. N Engl J Med 380, 2478-2480. PMID: 31216405

Dissection of Disease Phenotypes of Multiple Genetic Causes

Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR. Dissection of Disease Phenotypes of Multiple Genetic Causes. N Engl J Med. 376(1):21-31, 2017. PMID: 27959697

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 Jan 5;376(1):21. PMID: 27959697

Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism

Kennedy AD, Miller MJ, Beebe K, Wulff JE, Evans AM, Miller LA, Sutton VR, Sun Q, Elsea SH. Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism. Genet Test Mol Biomarkers. 2016 Sep;20(9):485-95. PMID: 27448163

Molecular diagnostic experience of whole-exome sequencing in adult patients

Posey JE, Rosenfeld JA, James RA, Bainbridge M, Niu Z, Wang X, Dhar S, Wiszniewski W, Akdemir ZH, 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. Genet Med. 2016 Jul;18(7):678. PMID: 26633545

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

Donti TR, Cappuccio G, Hubert L, Neira J, Atwal PS, Miller MJ, Cardon AL, Sutton VR, Porter BE, Baumer FM, Wangler MF, Sun Q, Emrick LT, Elsea SH. Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. Mol Genet Metab Rep. 2016 Jul 27;8:61-6. PMID: 27504266

Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma

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. J Pediatr. 2016 Feb;169:208-13.e2. PMID: 26602010

Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism

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 metabolomic analysis for the clinical screening of inborn errors of metabolism. J Inherit Metab Dis. 2015 Nov;38(6):1029-39. PMID: 25875217

TBX6 null variants and a common hypomorphic allele in congenital scoliosis

Wu, N., Ming, X., Xiao, J., Wu, Z., Chen, X., Shinawi, M., Shen, Y., Yu, G., Liu, J., Xie, H., Gucev, Z.S., 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, K.W., 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, V.R., Wang, H., Ming, Y., Kulkarni, S., Zhong, T.P., Giampietro, P.F., Dunwoodie, S.L., Cheung, S.W., Zhang, X., Jin, L., Lupski, J.R., Qiu, G., and Zhang, F. (2015). TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med 372, 341-350. PMID: 25564734

TP63-Related Disorders

Sutton VR, van Bokhoven H. TP63-Related Disorders. In: Pagon RA, Adam MP, Ardinger HH, Wallace S. 2015 August 6 Pubmed PMID: 20556892

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N,…, 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. Am J Hum Genet. 2015 August 6;97(2):199-215. Pubmed PMID: 26166479

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome

White J, Mazzeu JF, Hoischen A, Jhangiani SN, …, Muzny DM, Sutton VR, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Brunner HG, van Bon BW, Carvalho CM. DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet. 2015 April 2;96:612-22. Pubmed PMID: 25817016

A cross-sectional multicenter study of osteogenesis imperfecta in North America – results from the linked clinical research centers

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. Clin Genet. 2015 February;87:133-40. Pubmed PMID: 24754836

Aicardi Syndrome

Sutton VR, Van den Veyver IB. Aicardi Syndrome. In: Pagon RA, Adam MP, Ardinger HH, Wallace S. 2014 November 6 Pubmed PMID: 20301555

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea

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. Am J Hum Genet. 2014 May 1;94(5):784. PMID: 24791903

Improved standards for prenatal diagnosis of citrullinemia

Miller MJ, Soler-Alfonso CR, Grund JE, Fang P, Sun Q, Elsea SH, Sutton VR. Improved standards for prenatal diagnosis of citrullinemia. Mol Genet Metab. 2014 July;112(3):205-9. Pubmed PMID: 24889030

Focal Dermal Hypoplasia

Sutton VR, Van den Veyver IB. Focal Dermal Hypoplasia. In: Pagon RA, Adam MP, Ardinger HH, Wallace S. 2013 April 11 Pubmed PMID: 20301712

Chronic management and health supervision of individuals with propionic acidemia

Sutton VR, Chapman KA, Gropman AL, Macleod E, Stagni K, Summar ML, Ueda K, Ah Mew N, Franks J, Island E, Matern D, Peña L, Smith B, Urv T, Venditti C, Chakarapani A. Chronic management and health supervision of individuals with propionic acidemia.. Mol. Genet. Metab.. 2012 January;105(1):26-33. Pubmed PMID: 21963082

Guidelines for evaluating and managing children born with disorders of sexual development

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, Reid Sutton V. Guidelines for evaluating and managing children born with disorders of sexual development.. Pediatr Ann.. 2012;41(4):e1-7. Pubmed PMID: 22494213

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

Liu, P., Erez, A., Nagamani, S.C., Bi, W., Carvalho, C.M., Simmons, A.D., Wiszniewska, J., Fang, P., Eng, P.A., Cooper, M.L., Sutton, V.R., Roeder, E.R., Bodensteiner, J.B., Delgado, M.R., Prakash, S.K., Belmont, J.W., Stankiewicz, P., Berg, J.S., Shinawi, M., Patel, A., Cheung, S.W., and Lupski, J.R. (2011). Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet 20, 1975-1988. PMID: 21355048

A genome-wide screen for copy number alterations in Aicardi syndrome

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.. Am. J. Med. Genet. A. 2009 October;149(10):2113-21. Pubmed PMID: 19760649

Non-random X chromosome inactivation in Aicardi syndrome

Eble TN, Sutton VR, Sangi-Haghpeykar H, Wang X, Jin W, Lewis RA, Fang P, Van den Veyver IB. Non-random X chromosome inactivation in Aicardi syndrome.. Hum. Genet.. 2009 March;125(2):211-6. Pubmed PMID: 19116729

Neuroimaging aspects of Aicardi syndrome

Hopkins B, Sutton VR, Lewis RA, Van den Veyver I, Clark G. Neuroimaging aspects of Aicardi syndrome.. Am. J. Med. Genet. A. 2008 November 15;146(22):2871-8. Pubmed PMID: 18925666

Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

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, Stankiewicz P, Chinault AC, Lupski JR, Beaudet AL, Sutton VR. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics.. Am. J. Med. Genet. A. 2007 August 1;143(15):1679-86. Pubmed PMID: 17607705

Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

Wang X*, Sutton VR*, Peraza O, 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.. Nat Genet.. 2007;39(7):836-8. Pubmed PMID: 17546030

Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children

Glasmacher MA, Sutton VR, Hopkins B, 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.. J. Child Neurol.. 2007 February;22(2):176-84. Pubmed PMID: 17621479

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