VernonSuttonMD

PubMed

• 54 citations
  Nosology of genetic skeletal disorders: 2023 revision.
  Sheila Unger, Carlos R Ferreira, Geert R Mortier, Houda Ali, Débora R Bertola, Alistair Calder, Daniel H Cohn, Valerie Cormier-Daire, Katta M Girisha, Christine Hall, ...> ;American Journal of Medical Genetics. Part A. 2023 May 1
• 2 citations
  A novel, de novo intronic variant in POGZ causes White-Sutton syndrome.
  David R Murdock, Jill A Rosenfeld, Hongzheng Dai, Shamika Ketkar, Lisa Emrick, Sarah Nicholas, Richard A Lewis, , Carlos A Bacino, Daryl A Scott, Brendan Lee, Vernon R...> ;American Journal of Medical Genetics. Part A. 2022 Jul 1
• 16 citations
  COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
  Ronit Marom, Lindsay C. Burrage, Rossella Venditti, Aurélie Clément, Bernardo Blanco-Sánchez, Mahim Jain, Daryl A. Scott, Jill A. Rosenfeld, V. Reid Sutton, Marwan Shi...> ;American Journal of Human Genetics. 2021 Sep 2
• 34 citations
  A noncoding RNA modulator potentiates phenylalanine metabolism in mice.
  Yajuan Li, Zhi Tan, Yaohua Zhang, Zhao Zhang, Qingsong Hu, Ke Liang, Yao Jun, Youqiong Ye, Yi Chuan Li, Chunlai Li, Lan Liao, Jianming Xu, Zhen Xing, Yinghong Pan, Suj...> ;Science. 2021 Aug 6
• 3 citations
  Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
  Stephanie Efthymiou, Isabella Herman, Fatima Rahman, Najwa Anwar, Reza Maroofian, Janice Yip, Tadahiro Mitani, Daniel G. Calame, Jill V. Hunter, V. Reid Sutton, Elif Y...> ;American Journal of Medical Genetics. Part A. 2021 May 8
• 4 citations
  Health-related quality of life in adults with osteogenesis imperfecta.
  Chaya N. Murali, Brady Slater, Salma Musaad, David Cuthbertson, Dianne Nguyen, Alicia Turner, Mahshid S. Azamian, Laura L. Tosi, Frank Rauch, V. Reid Sutton, Brendan L...> ;Clinical Genetics. 2021 Feb 12
• 33 citations
  Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS).
  Sen Zhao, Yuanqiang Zhang, Weisheng Chen, Weiyu Li, Shengru Wang, Lianlei Wang, Yanxue Zhao, Mao Lin, Yongyu Ye, Jiachen Lin, Yu Zheng, Jiaqi Liu, Hengqiang Zhao, Zihu...> ;Journal of Medical Genetics. 2021 Jan 1
• 5 citations
  Craniofacial phenotypes associated with Robinow syndrome.
  Christopher J. Conlon, Amjed Abu-Ghname, Anjali C. Raghuram, Matthew J. Davis, Diana E Guillen, V. Reid Sutton, Claudia M.B. Carvalho, Renata S. Maricevich> ;American Journal of Medical Genetics. Part A. 2021 Dec 1
• 24 citations
  Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.
  Cristan Farmer, Aaron J. Kaat, Audrey Thurm, Irina Anselm, Natacha Akshoomoff, Amanda Bennett, Leandra N. Berry, Aleksandra Bruchey, Bruce A. Barshop, Elizabeth Berry-...> ;American Journal on Intellectual and Developmental Disabilities. 2020 Nov 1
• 13 citations
  Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
  Chaofan Zhang, Juliana F. Mazzeu, Jesper Eisfeldt, Christopher M. Grochowski, Janson White, Zeynep Coban Akdemir, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibb...> ;American Journal of Medical Genetics. Part A. 2021 Dec 1
• 6 citations
  Extremity anomalies associated with Robinow syndrome
  Amjed Abu-Ghname, Jeffrey G. Trost, Matthew J. Davis, V. Reid Sutton, Chaofan Zhang, Diana E Guillen, Claudia M.B. Carvalho, Renata S. Maricevich> ;American Journal of Medical Genetics. Part A. 2021 Dec 1
• 3 citations
  Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome
  David D. Schwartz, Rachel H. Fein, Claudia M.B. Carvalho, V. Reid Sutton, Juliana F. Mazzeu, Marni E. Axelrad> ;American Journal of Medical Genetics. Part A. 2021 Dec 1
• 11 citations
  Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency.
  Nishitha R. Pillai, Hitha Amin, Charul Gijavanekar, Ning Liu, Niveen Issaq, Katarzyna A. Broniowska, Alison A. Bertuch, V. Reid Sutton, Sarah H. Elsea, Fernando Scaglia> ;American Journal of Medical Genetics. Part A. 2020 Sep 10
• 4 citations
  Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form.
  Brian J. Shayota, Chaofan Zhang, Roman J. Shypailo, Juliana F. Mazzeu, Claudia M.B. Carvalho, V. Reid Sutton> ;American Journal of Medical Genetics. Part A. 2020 Sep 5
• Corrigendum to "The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII" [Mol Genet Metab ...
  Raymond Y. Wang, José Francisco da Silva Franco, Jaime López-Valdez, Esmeralda Martins, Vernon R. Sutton, Chester B. Whitley, Lin Zhang, Tricia Cimms, Deborah Marsden,...> ;Molecular Genetics and Metabolism. 2020 Aug 23
• 8 citations
  Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.
  Brian J. Shayota, Taraka R. Donti, Jing Xiao, Charul Gijavanekar, Adam D. Kennedy, Leroy Hubert, Lance H. Rodan, Christina VanderPluym, Catherine Nowak, Hans T. Bjorns...> ;Molecular Genetics and Metabolism. 2020 Aug 5
• 7 citations
  Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes
  Shelley Gibson, Mahshid S. Azamian, Seema R. Lalani, Kimberly G. Yen, V. Reid Sutton, Daryl A. Scott> ;American Journal of Medical Genetics. Part A. 2020 Aug 1
• 7 citations
  Assessment of longitudinal bone growth in osteogenesis imperfecta using metacarpophalangeal pattern profiles
  Damian Rauch, Marie-Eve Robinson, Cristian Seiltgens, V. Reid Sutton, Brendan Lee, Francis H. Glorieux, Frank Rauch> ;Bone. 2020 Jul 27
• 7 citations
  Malocclusion traits and oral health-related quality of life in children with osteogenesis imperfecta: A cross-sectional study.
  Mohammadamin Najirad, Sreenath Arekunnath Madathil, Frank Rauch, V. Reid Sutton, Brendan Lee, Jean-Marc Retrouvey, Sandesh C.S. Nagamani, Francis H. Glorieux, Paul Esp...> ;Journal of the American Dental Association. 2020 Jul 1
• 17 citations
  Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy
  Francisco Del Caño-Ochoa, Bobby G. Ng, Malak Abedalthagafi, Mohammed Almannai, Ronald D. Cohn, Gregory Costain, Orly Elpeleg, Henry Houlden, Ehsan Ghayoor Karimiani, P...> ;Genetics in Medicine. 2020 May 28
• 17 citations
  Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.
  Claudia Gonzaga-Jauregui, Gozde Yesil, Harikiran Nistala, Alper Gezdirici, Yavuz Bayram, Kalyan C. Nannuru, Davut Pehlivan, Bo Yuan, Johanna Jimenez, Yavuz Sahin, Ingr...> ;European Journal of Human Genetics. 2020 May 6
• 3 citations
  VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features.
  Christian Beetz, Najim Ameziane, Ameni Kdissa, Vasiliki Karageorgou, Peter Bauer, Jehan Suleiman, V. Reid Sutton, Ayman W. El-Hattab> ;Clinical Genetics. 2020 Apr 1
• Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and...
  Sarah T. South, Michelle McClure, Caroline Astbury, Michael T. Bashford, Judith Benkendorf, Edward D. Esplin, Kristin G. Monaghan, Devin Oglesbee, V. Reid Sutton, Mich...> ;Genetics in Medicine. 2020 Mar 4
• 16 citations
  Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta.
  Chaya N. Murali, David Cuthbertson, Brady Slater, Dianne Nguyen, Alicia Turner, Gerald F. Harris, V. Reid Sutton, Brendan Lee, Frank Rauch, Francis H. Glorieux, Jean-M...> ;Genetics in Medicine. 2020 Mar 1
• 15 citations
  The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII.
  Raymond Y. Wang, José Francisco da Silva Franco, Jaime López-Valdez, Esmeralda Martins, Vernon R. Sutton, Chester B. Whitley, Lin Zhang, Tricia Cimms, Deborah Marsden,...> ;Molecular Genetics and Metabolism. 2020 Mar 1
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