DenaRaeMatalonMD

PubMed

• 1 citations
  Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
  Courtney P Verscaj, Frances Velez-Bartolomei, Ethan Bodle, Katie Chan, Michael J Lyons, Willa Thorson, Wen-Hann Tan, Nancy Rodig, John M Graham Jr, Angela Peron, Fabio...> ;Prenatal Diagnosis. 2024 Feb 1
• 3 citations
  Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American Colleg...
  Dena R Matalon, Cinthya J Zepeda-Mendoza, Mahmoud Aarabi, Kaitlyn Brown, Stephanie M Fullerton, Shagun Kaur, Fabiola Quintero-Rivera, Matteo Vatta> ;Genetics in Medicine. 2023 Jun 1
• Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome.
  Dena R Matalon, Elizabeth J Bhoj, Dong Li, Carey McDougall, Erica Schindewolf, Nahla Khalek, Alisha Wilkens, Matthew A Deardorff, Elaine H Zackai, Morgan McManus> ;American Journal of Medical Genetics. Part A. 2023 Apr 1
• 1 citations
  Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a NovelVariant Causing a Treatable but Likely Underdiagnosed Genetic Disorder.
  Christina G Tise, Melinda J Palma, Kristina P Cusmano-Ozog, Dena R Matalon> ;Journal of Investigative Medicine High Impact Case Reports. 2023 Feb 8
• 2 citations
  DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.
  Jet Coenen-van der Spek, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Michael A Levy, Matthew L Tedder, Raymond J Louie, Robin S Fletcher, Hannah W Moore, Anna Ch...> ;Genetics in Medicine. 2023 Jan 1
• 10 citations
  Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
  Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor, Alexander Stegmann, Richard H van Jaarsveld, Koen L van Gassen, Jasper J van der Smagt, Catharina M L Volker-Touw, S...> ;Genetics in Medicine. 2022 Aug 1
• 1 citations
  Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome.
  Christina G Tise, Dena R Matalon, Melanie A Manning, Heather M Byers, Monica Grover> ;Journal of Investigative Medicine High Impact Case Reports. 2022 May 31
• 2 citations
  Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant.
  Jose Andres Morales, Irene Valenzuela, Ivon Cuscó, Benjamin Cogné, Bertrand Isidor, Dena R Matalon, Natalia Gomez-Ospina> ;American Journal of Medical Genetics. Part A. 2022 May 1
• 7 citations
  Points to consider to avoid unfair discrimination and the misuse of genetic information: A statement of the American College of Medical Genetics and Genomics (ACMG).
  Laurie H Seaver, George Khushf, Nancy M P King, Dena R Matalon, Kunal Sanghavi, Matteo Vatta, Kristi Wees> ;Genetics in Medicine. 2022 Mar 1
• 5 citations
  Progression of vertebral bone disease in mucopolysaccharidosis VII dogs from birth to skeletal maturity.
  Sun H. Peck, Yian Khai Lau, Jennifer L. Kang, Megan Lin, Toren Arginteanu, Dena R. Matalon, Justin R. Bendigo, Patricia O'Donnell, Mark E. Haskins, Margret L. Casal, L...> ;Molecular Genetics and Metabolism. 2021 Jun 15
• 3 citations
  Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies.
  Dena R. Matalon, David A. Stevenson, Elizabeth J. Bhoj, Avni Santani, Beth Keena, Meryl S. Cohen, Angela E. Lin, Sarah E Sheppard, Elaine H. Zackai> ;American Journal of Medical Genetics. Part A. 2021 Mar 8
• 2 citations
  Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study
  Can Ficicioglu, Dena R. Matalon, Nicole Luongo, Caitlin Menello, Tracy Kornafel, Andrew J. Degnan> ;Orphanet Journal of Rare Diseases. 2020 Nov 30
• 5 citations
  De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities
  Roya Bina, Dena R. Matalon, Brieana Fregeau, Jacqueline Joani Tarsitano, Ingvild Aukrust, Gunnar Houge, Renee Bend, Hannah Warren, Roger E. Stevenson, Kyra E. Stuurman...> ;Journal of Medical Genetics. 2020 Jan 10
• 49 citations
  ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis
  Cole A. Deisseroth, Johannes Birgmeier, Ethan E. Bodle, Jennefer N. Kohler, Dena R. Matalon, Yelena Nazarenko, Casie A. Genetti, Catherine A. Brownstein, Klaus Schmitz...> ;Genetics in Medicine. 2019 Jul 1
• 17 citations
  SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss.
  Rebecca Buchert, Addie I. Nesbitt, Hasan Tawamie, Ian D. Krantz, Livija Medne, Ingo Helbig, Dena R. Matalon, André Reis, Avni Santani, Heinrich Sticht, Rami Abou Jamra> ;Orphanet Journal of Rare Diseases. 2016 Sep 29
• 27 citations
  Confirming an expanded spectrum of SCN2A mutations: a case series.
  Dena R. Matalon, Ethan M. Goldberg, Livija Medne, Eric D. Marsh> ;Epileptic Disorders. 2014 Mar 1
• 12 citations
  Pericentric inversion, inv(14)(p11.2q22.3), in a 9-month old with features of Goldenhar syndrome
  Jill K. Northup, Dena Matalon, Judy C. Hawkins, Reuben Matalon, Gopalrao V.N. Velagaleti> ;Clinical Dysmorphology. 2010 Oct 1
• 6 citations
  Altered expression of myocilin in the brain of a mouse model for phenylketonuria (PKU)
  Sankar Surendran, Dena Matalon, Stephen K. Tyring, Peter L. Rady, Gopalrao V.N. Velagaleti, Reuben Matalon> ;Neuroscience Letters. 2005 Jul 15
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