CarolLClericuzioMD

PubMed

• 14 citations
  Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
  David A. Dyment, Anne H. O’Donnell-Luria, Pankaj B. Agrawal, Zeynep Coban Akdemir, Kyrieckos A. Aleck, Danny Antaki, Hind Al Sharhan, Ping-Yee B Au, Hatip Aydin, Alan ...> ;American Journal of Medical Genetics. Part A. 2021 Jan 1
• 49 citations
  DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes
  Sanaa Choufani, William T. Gibson, Andrei L. Turinsky, Brian H.Y. Chung, Tianren Wang, Kopal Garg, Alessandro Vitriolo, Ana S A Cohen, Sharri Cyrus, Sarah J. Goodman, ...> ;American Journal of Human Genetics. 2020 May 7
• 1 citations
  Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome.
  Marina S Oren, Jenny E. Camacho, Hongyan Xie, Jean R. Lowe, Tom Cushing, Carol L. Clericuzio, Jessie R. Maxwell> ;Clinical Case Reports. 2019 Mar 25
• 1 citations
  Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
  Katrina Tatton-Brown, Sandra Hanks, Elise Ruark, Anna Zachariou, Silvana Del Vecchio Duarte, Emma Ramsay, Katie Snape, Anne Murray, Elizabeth R Perdeaux, Sheila Seal, ...> ;Oncotarget. 2018 Nov 30
• 4 citations
  A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys.
  Yoko Ito, Amanda C. Smith, Kristin D. Kernohan, Izabella A. Pena, Afsana Ahmed, Laura M McDonell, Chandree L. Beaulieu, Dennis E. Bulman, Aimee C. Smidt, Sara L. Sawye...> ;Clinical Genetics. 2018 Oct 1
• 59 citations
  A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
  Stephen R.F. Twigg, Robert B. Hufnagel, Kerry A. Miller, Yan Zhou, Simon J. McGowan, John Taylor, Jude Craft, Jenny C. Taylor, Stephanie L. Santoro, Taosheng Huang, Ro...> ;American Journal of Human Genetics. 2016 Jun 2
• 47 citations
  Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome
  Morad Ansari, Jacqueline K. Rainger, Isabel M. Hanson, Kathleen A. Williamson, Freddie H. Sharkey, Louise Harewood, Angela Sandilands, Jill Clayton-Smith, Hélène Dollf...> ;Plos One. 2016 Apr 28
• 21 citations
  Occurrence of DNET and other brain tumors in Noonan syndrome warrants caution with growth hormone therapy
  Geoffrey D. McWilliams, Karen S. SantaCruz, Blaine L. Hart, Carol L. Clericuzio> ;American Journal of Medical Genetics. Part A. 2016 Jan 1
• 111 citations
  Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome
  Susanne Roosing, Matan Hofree, Sehyun Kim, Eric Scott, Brett Copeland, Marta Romani, Jennifer L. Silhavy, Rasim Ozgur Rosti, Jana Schroth, Tommaso Mazza, Elide Miccini...> ;Elife. 2015 May 30
• Medical genetics by G. Bradley Schaefer and James N. Thompson, Jr. (Jan 13, 2014) ISBN: 0071664386/9780071664387.
  Clericuzio, C. L.> ;Am. J. Med. Genet. A. 2014 Nov 28
• 1 citations
  Tumor-Induced Rickets Presenting in an Adolescent: A Case Report and Review of the Literature.
  Nathan T. Morrell, Nancy L. Beck, Carol L. Clericuzio, Carmen Frias-Kletecka, Elizabeth A. Szalay> ;JBJS Case Connector. 2014 Sep 10
• 142 citations
  Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
  Margaret J. McMillin, Anita E. Beck, Jessica X. Chong, Kathryn M. Shively, Kati J. Buckingham, Heidi I. S. Gildersleeve, Mariana Aracena, Arthur S. Aylsworth, Pierre B...> ;American Journal of Human Genetics. 2014 May 1
• 96 citations
  Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype
  Katrina Tatton-Brown, Anne Murray, Sandra Hanks, Jenny Douglas, Ruth Armstrong, Siddharth Banka, Lynne M. Bird, Carol L. Clericuzio, Valérie Cormier-Daire, Tom Cushing...> ;American Journal of Medical Genetics. Part A. 2013 Dec 1
• 75 citations
  Mutations in STAMBP, encoding a deubiquitinating enzyme, cause Microcephaly-Capillary Malformation syndrome
  Laura M McDonell, Ghayda M. Mirzaa, Diana Alcantara, Jeremy Schwartzentruber, Melissa T. Carter, Leo J. Lee, Carol L. Clericuzio, John M. Graham, Deborah J. Morris-Ros...> ;Nature Genetics. 2013 May 1
• 51 citations
  Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate
  Amelia M. Lindgren, Tatiana Hoyos, Michael E. Talkowski, Carrie Hanscom, Ian Blumenthal, Colby Chiang, Carl Ernst, Shahrin Pereira, Zehra Ordulu, Carol L. Clericuzio, ...> ;Human Genetics. 2013 Jan 25
• 396 citations
  Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
  Santhosh Girirajan, Jill A. Rosenfeld, Bradley P. Coe, Sumit Parikh, Neil R. Friedman, Amy Goldstein, Robyn A. Filipink, Juliann Mcconnell, Brad Angle, Wendy S. Meschi...> ;The New England Journal of Medicine. 2012 Oct 3
• 70 citations
  Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis
  Olivier Gribouval, Vincent Morinière, Audrey Pawtowski, Christelle Arrondel, Satu-Leena Sallinen, Carola Saloranta, Carol L. Clericuzio, Géraldine Viot, Julia Tantau, ...> ;Human Mutation. 2012 Feb 1
• 121 citations
  Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height
  Katrina Tatton-Brown, Sandra Hanks, Elise Ruark, Anna Zachariou, Silvana Del Vecchio Duarte, Emma Ramsay, Katie Snape, Anne Murray, Elizabeth R Perdeaux, Sheila Seal, ...> ;Oncotarget. 2011 Dec 20
• 28 citations
  Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes
  Jill A. Rosenfeld, Joanne M. Drautz, Carol L. Clericuzio, Tom Cushing, Salmo Raskin, Judith M. Martin, Raymond C. Tervo, Jose A. Pitarque, Dorota M. Nowak, Justyna A. ...> ;American Journal of Medical Genetics. Part A. 2011 Aug 1
• 3 citations
  16 month-old female with intraventricular mass.
  Muhammad Omar Chohan, Tausif Rehman, Rafael Medina-Flores, Carol L. Clericuzio, Richard L. Heideman, Erich Marchand> ;Brain Pathology. 2011 May 1
• 17 citations
  A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies†
  Melissa T. Carter, Michael T. Geraghty, Laura De La Cruz, R. Ross Reichard, Luigi Boccuto, Charles E. Schwartz, Carol L. Clericuzio> ;American Journal of Medical Genetics. Part A. 2011 Feb 1
• 32 citations
  Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia.
  Carol L. Clericuzio, Karine G. Harutyunyan, Weidong Jin, Robert P. Erickson, Alan D. Irvine, W.H. Irwin McLean, Yaran Wen, Rochelle Bagatell, Thomas A. Griffin, Tor Sh...> ;American Journal of Medical Genetics. Part A. 2011 Feb 1
• 11 citations
  Clinical utility gene card for: WAGR syndrome.
  Carol L. Clericuzio, Melanie Hingorani, John A. Crolla, Veronica van Heyningen, Alain Verloes> ;European Journal of Human Genetics. 2011 Jan 12
• 13 citations
  Diagnosing xeroderma pigmentosum group C by immunohistochemistry.
  Sebastien de Feraudy, Imenne Boubakour-Azzouz, Sylvie Fraitag, M. Berneburg, Loretta Chan, Kevin Chew, Carol L Clericuzio, Bari B. Cunningham, Whitney D. Tope, James E...> ;The American Journal of Dermatopathology. 2010 Apr 1
• 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
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