Publications by authors named "Thomas D Challman"

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Etiologic Evaluation of Children with Autism Spectrum Disorder.
Steven M Lazar, Thomas D Challman, Scott M Myers

Pediatr Clin North Am· April 2024

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Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
Sheng-Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha S Zaki, Thomas D Challman

Genome Med· November 2023

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Letter to the editor.
Brenda Finucane, Scott M Myers, Thomas D Challman, Christa Lese Martin, David H Ledbetter

Autism Res· April 2023

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coding variants in the gene cause a neurodevelopmental disorder with intellectual disability.
Audrey Schalk, Margot A Cousin, Nikita R Dsouza, Thomas D Challman, Karen E Wain

J Med Genet· October 2022

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Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.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, Thomas D Challman

Am J Med Genet A· November 2021

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DLG4-related synaptopathy: a new rare brain disorder.
Agustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, Kimberly A Aldinger, Íñigo Marcos-Alcalde, Thomas D Challman

Genet Med· May 2021

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Response to Buxbaum et al.
Scott M Myers, Thomas D Challman, Christa Leese Martin, David H Ledbetter

Am J Hum Genet· November 2020

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Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
Dervla M Connaughton, Rufeng Dai, Danielle J Owen, Jonathan Marquez, Nina Mann, Thomas D Challman

Am J Hum Genet· October 2020

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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, Thomas D Challman

Genet Med· May 2020

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Insufficient Evidence for "Autism-Specific" Genes.
Scott M Myers, Thomas D Challman, Raphael Bernier, Thomas Bourgeron, Wendy K Chung

Am J Hum Genet· May 2020

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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, Thomas D Challman

Genet Med· April 2020

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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 Finucane, Thomas D Challman

Hum Mutat· November 2018

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Pain insensitivity: distal S6-segment mutations in Na1.9 emerge as critical hotspot.
Margaret K King, Enrico Leipold, Jessica M Goehringer, Ingo Kurth, Thomas D Challman

Neurogenetics· July 2017

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Shift happens: family background influences clinical variability in genetic neurodevelopmental disorders.
Brenda Finucane, Thomas D Challman, Christa Lese Martin, David H Ledbetter

Genet Med· April 2016

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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, Thomas D Challman

JAMA Psychiatry· February 2015

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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

Lancet Neurol· April 2013

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End-stage renal failure in Smith-Magenis syndrome.
Scott M Myers, Thomas D Challman, Glenn H Bock

Am J Med Genet A· August 2007

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Congenital heart defects associated with Smith-Magenis syndrome: two cases of total anomalous pulmonary venous return.
Scott M Myers, Thomas D Challman

Am J Med Genet A· November 2004

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The yield of the medical evaluation of children with pervasive developmental disorders.
Thomas D Challman, William J Barbaresi, Slavica K Katusic, Amy Weaver

J Autism Dev Disord· April 2003

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