RobinDClarkMD

PubMed

• 3 citations
  Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
  Maninder Kaur, Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Audrey Lawrence, Jiwoo Kim, Wonwook Do, Benjamin Semeo, Olivia Katz, Devanshi Mehta, Nobuko...> ;American Journal of Medical Genetics. Part A. 2023 Aug 1
• 9 citations
  Delayed diagnosis and racial bias in children with genetic conditions.
  Jacklyn Omorodion, Leah Dowsett, Robin D Clark, Jamie Fraser, Aya Abu-El-Haija, Alanna Strong, Monica H Wojcik, Allison S Bryant, Nina B Gold> ;American Journal of Medical Genetics. Part A. 2022 Apr 1
• 3 citations
  Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms
  Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott, Dana H. Goodloe, S. Joy Dean, Catherine Gooch, Brianna K. Murray, Erin S...> ;Molecular Genetics & Genomic Medicine. 2021 Sep 14
• Response to Hamosh et al.
  Leslie G. Biesecker, Margaret P. Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad, Anita E. Beck, James T. Bennett, Lynne M. Bird, John C. Carey, Brian H.Y. ...> ;American Journal of Human Genetics. 2021 Sep 2
• 4 citations
  O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
  Clara Velmans, Anne H. O’Donnell-Luria, Emanuela Argilli, Frédéric Tran Mau-Them, Antonio Vitobello, Marcus Cy Chan, Jasmine L.F. Fung, Megan E. Rech, Angela Abicht, M...> ;Journal of Medical Genetics. 2021 Jul 28
• 4 citations
  CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum
  Elizabeth E. Palmer, Chloe Whitton, Mais Hashem, Robin D. Clark, Subhadra Ramanathan, Lois J. Starr, Danita Velasco, John Karl de Dios, Emily Singh, Valérie Cormier-Da...> ;Clinical Genetics. 2021 Jul 13
• 63 citations
  A dyadic approach to the delineation of diagnostic entities in clinical genomics.
  Leslie G. Biesecker, Margaret P. Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad, Anita E. Beck, James T. Bennett, Lynne M. Bird, John C. Carey, Brian H.Y. ...> ;American Journal of Human Genetics. 2021 Jan 7
• 7 citations
  Optimizing Genetic Diagnosis of Neurodevelopmental Disorders in the Clinical Setting.
  David Michelson, Robin D. Clark> ;Clinics in Laboratory Medicine. 2020 Jul 3
• 10 citations
  Clark-Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12.
  Raymond J. Louie, Michael J. Friez, Cindy Skinner, Michael Baraitser, Robin D. Clark, Charles E. Schwartz, Roger E. Stevenson> ;American Journal of Medical Genetics. Part A. 2020 Mar 1
• Unbalanced Whole-Arm Translocation der(18;21)(q10;q10) in Hematological Malignancies.
  Manisha Brahmbhatt Sutariya, Robin D. Clark, Suzanne Wilson, Leidy Vargas, Jun Wang, Paul C. Herrmann> ;Journal of the Association of Genetic Technologists. 2020 Jan 1
• 56 citations
  Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.
  Nichole Link, Hyunglok Chung, Angad Jolly, Marjorie Withers, Burak Tepe, Benjamin R. Arenkiel, Priya S. Shah, Nevan J. Krogan, Hatip Aydin, Bilgen Bilge Geçkinli, Tula...> ;Developmental Cell. 2019 Dec 16
• 29 citations
  Cornelia de Lange syndrome in diverse populations
  Leah Dowsett, Antonio R. Porras, Paul Kruszka, Brandon Davis, Tommy Hu, Engela Honey, E.V. Badoe, Meow-Keong Thong, Eyby Leon, Katta M. Girisha, Anju Shukla, Shalini S...> ;American Journal of Medical Genetics. Part A. 2019 Feb 1
• Child Neurology: Siblings with infantile epilepsy and developmental delay: A circuitous path to genomic diagnosis
  Yin Liu, David Michelson, Robin D. Clark, June-Anne Gold> ;Neurology. 2018 Jul 17
• 10 citations
  SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly.
  Bethany Stokes, Seth I. Berger, Beth A. Hall, Karin Weiss, Ariel F. Martinez, Donald W. Hadley, David R. Murdock, Subhadra Ramanathan, Robin D. Clark, Erich Roessler, ...> ;Congenital Anomalies. 2018 Jan 1
• 59 citations
  Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.
  Brett Deml, Linda M. Reis, Emmanuelle Lemyre, Robin D. Clark, Ariana Kariminejad, Elena V. Semina> ;European Journal of Human Genetics. 2016 Apr 1
• 35 citations
  Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies.
  Edward D. Esplin, Ben Li, Anne Slavotinek, Antonio Novelli, Agatino Battaglia, Robin D. Clark, Cynthia J. Curry, Louanne Hudgins> ;American Journal of Medical Genetics. Part A. 2014 Aug 1
• 197 citations
  Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
  Kim M. Keppler-Noreuil, Julie C. Sapp, Marjorie J. Lindhurst, Victoria E. R. Parker, Cathy Blumhorst, Thomas N. Darling, Laura L. Tosi, Susan M Huson, Richard W. White...> ;American Journal of Medical Genetics. Part A. 2014 Apr 29
• 67 citations
  Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.
  Anna Lindstrand, Erica E. Davis, Claudia M.B. Carvalho, Davut Pehlivan, Jason R. Willer, I-Chun Tsai, Subhadra Ramanathan, Craig W. Zuppan, Aniko Sabo, Donna M. Muzny,...> ;American Journal of Human Genetics. 2014 May 1
• 29 citations
  Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.
  Eric T. Rush, Margaret P. Adam, Robin D. Clark, Cynthia J. Curry, Julianne E. Hartmann, William B. Dobyns, Ann Haskins Olney> ;American Journal of Medical Genetics. Part A. 2013 Feb 1
• 182 citations
  Disruption of an EHMT1-Associated Chromatin- Modification Module Causes Intellectual Disability
  Tjitske Kleefstra, Jamie M. Kramer, Kornelia Neveling, Marjolein H. Willemsen, Tom S. Koemans, Lisenka E.L.M. Vissers, Willemijn M. Wissink-Lindhout, Michaela Fenckova...> ;American Journal of Human Genetics. 2012 Jul 13
• 35 citations
  Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.
  Eric Muller, Swaroop Aradhya, Joan F. Atkin, Erin P. Carmany, Alison M. Elliott, Albert E. Chudley, Robin D. Clark, David B. Everman, Shannon Garner, Bryan D. Hall, Ga...> ;American Journal of Medical Genetics. Part A. 2012 Feb 1
• 16 citations
  Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome).
  John M. Graham, Robin D. Clark, John B. Moeschler, R. Curtis Rogers> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2010 Nov 15
• 111 citations
  Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome
  Carol J. Gallione, Arthur S. Aylsworth, Jill Beis, Terri Berk, Barbara A. Bernhardt, Robin D. Clark, Carol L. Clericuzio, Cesare Danesino, Joanne M. Drautz, Jeffrey Fa...> ;American Journal of Medical Genetics. Part A. 2010 Feb 1
• 105 citations
  Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development.
  Zsolt Urban, Vishwanathan Hucthagowder, Nura Schürmann, Vesna Todorovic, Lior Zilberberg, Jiwon Choi, Carla Sens, Chester W. Brown, Robin D. Clark, Kristen E. Holland,...> ;American Journal of Human Genetics. 2009 Nov 13
• 27 citations
  FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing.
  Robin D. Clark, John M. Graham, Michael J. Friez, Joe J Hoo, Kenneth L. Jones, Carole McKeown, John B. Moeschler, F. Lucy Raymond, R. Curtis Rogers, Charles E. Schwart...> ;Genetics in Medicine. 2009 Nov 1
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