ThomasD.ChallmanMD

PubMed

• 3 citations
  Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
  Daniel G Calame, Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood, Alina Kurolap, Noa Zunz Henig, Jawid M Fatih, Isabella Herman, Haowei Du, Tadahiro M...> ;American Journal of Human Genetics. 2023 Aug 3
• Letter to the editor.
  Brenda Finucane, Thomas D Challman, Christa Lese Martin, David H Ledbetter, Myers, S. M., Scott M Myers> ;Autism Research. 2023 Apr 1
• 11 citations
  coding variants in thegene cause a neurodevelopmental disorder with intellectual disability.
  Audrey Schalk, Margot A Cousin, Nikita R Dsouza, Thomas D Challman, Karen E Wain, Zoe Powis, Kelly Minks, Aurélien Trimouille, Eulalie Lasseaux, Didier Lacombe, Chloé ...> ;Journal of Medical Genetics. 2022 Oct 1
• 10 citations
  Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
  Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, Maria J. Guillen Sacoto, Francisca Milan Zamora, Yue Si, Rachel Rabin, John Pappas, Deborah L. Renaud, Natalie H...> ;American Journal of Medical Genetics. Part A. 2021 Aug 26
• 13 citations
  DLG4-related synaptopathy: a new rare brain disorder
  Agustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, Kimberly A. Aldinger, Iñigo Marcos-Alcalde, Bernt Popp, David B. Everman, Alysia Kern Lovgren, ...> ;Genetics in Medicine. 2021 Feb 17
• 3 citations
  Response to Buxbaum et al.
  Scott M. Myers, Thomas D. Challman, Christa Leese Martin, David H. Ledbetter> ;American Journal of Human Genetics. 2020 Nov 5
• 17 citations
  Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
  Dervla M. Connaughton, Rufeng Dai, Danielle J. Owen, Jonathan Marquez, Nina Mann, Adda L. Graham-Paquin, Makiko Nakayama, Etienne Coyaud, Estelle M.N. Laurent, Jonatha...> ;American Journal of Human Genetics. 2020 Oct 1
• 71 citations
  Insufficient Evidence for “Autism-Specific” Genes
  Scott M. Myers, Thomas D. Challman, Raphael Bernier, Thomas Bourgeron, Wendy K. Chung, John N. Constantino, Evan E. Eichler, Sébastien Jacquemont, David T. Miller, Kev...> ;American Journal of Human Genetics. 2020 May 7
• 10 citations
  GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
  Christine Shieh, Natasha Jones, Brigitte Vanle, Margaret Au, Alden Y Huang, Ana P G Silva, Hane Lee, Emilie D Douine, Maria G Otero, Andrew Choi, Katheryn Grand, Ingri...> ;Genetics in Medicine. 2020 May 1
• 2 citations
  Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
  Christine Shieh, Natasha Jones, Brigitte Vanle, Margaret Au, Alden Y Huang, Ana P G Silva, Hane Lee, Emilie D Douine, Maria G Otero, Andrew Choi, Katheryn Grand, Ingri...> ;Genetics in Medicine. 2020 Apr 1
• 12 citations
  The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants.
  Karen E. Wain, Emily Palen, Juliann M. Savatt, Devin Shuman, Brenda M Finucane, Andrea Seeley, Thomas D. Challman, Scott M. Myers, Christa Lese Martin> ;Human Mutation. 2018 Nov 1
• 43 citations
  De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
  Elizabeth E. Palmer, T. Stuhlmann, Stefanie Weinert, Eric Haan, H Van Esch, Maureen Holvoet, Jackie Boyle, Melanie Leffler, Martine Raynaud, Claude Moraine, H Van Bokh...> ;Molecular Psychiatry. 2018 Feb 1
• 18 citations
  Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot
  Margaret K. King, Enrico Leipold, Jessica M. Goehringer, Ingo Kurth, Thomas D. Challman> ;Neurogenetics. 2017 Mar 13
• 33 citations
  Shift happens: family background influences clinical variability in genetic neurodevelopmental disorders.
  Brenda M Finucane, Thomas D. Challman, Christa Lese Martin, David H. Ledbetter> ;Genetics in Medicine. 2016 Apr 1
• 96 citations
  The Role of Parental Cognitive, Behavioral, and Motor Profiles in Clinical Variability in Individuals With Chromosome 16p11.2 Deletions
  Andres Moreno-De-Luca, David W. Evans, K. B. Boomer, Ellen Hanson, Raphael Bernier, Robin P. Goin-Kochel, Scott M. Myers, Thomas D. Challman, Daniel Moreno-De-Luca, My...> ;JAMA Psychiatry. 2015 Feb 1
• 213 citations
  Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence
  Andres Moreno-De-Luca, Scott M. Myers, Thomas D. Challman, Daniel Moreno-De-Luca, David W. Evans, David H. Ledbetter> ;The Lancet. Neurology. 2013 Apr 1
• 4 citations
  End-stage renal failure in Smith-Magenis syndrome.
  Scott M. Myers, Thomas D. Challman, Glenn H. Bock> ;American Journal of Medical Genetics. Part A. 2007 Aug 15
• 4 citations
  Proximal 6q interstitial deletion without severe mental retardation.
  Scott M. Myers, Thomas D. Challman> ;Genetic Counseling. 2005 Jan 1
• 11 citations
  Congenital heart defects associated with Smith-Magenis syndrome: two cases of total anomalous pulmonary venous return.
  Scott M. Myers, Thomas D. Challman> ;American Journal of Medical Genetics. Part A. 2004 Nov 15
• 33 citations
  The yield of the medical evaluation of children with pervasive developmental disorders.
  Thomas D. Challman, William J. Barbaresi, Slavica K. Katusic, Amy L. Weaver> ;Journal of Autism and Developmental Disorders. 2003 Apr 1
• 241 citations
  Methylphenidate: Its Pharmacology and Uses
  Thomas D. Challman, James J. Lipsky> ;Mayo Clinic Proceedings. 2000 Jul 1
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