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Human Genetics|February 10, 2004
Delineation of complex chromosomal rearrangements: evidence for increased complexityCaroline Astbury, Laurie A Christ, David J Aughton, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 16, 2002
The practice of clinical genetics: a survey of practitionersBeth A Pletcher, Ethan A B Jewett, William L Cull, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 2, 2012
Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?Brynn Levy, David Tegay, Peter Papenhausen, et al.Pediatrics|January 30, 2016
A Quality Improvement Collaborative to Improve Pediatric Primary Care Genetic ServicesMichael L Rinke, Amy Driscoll, Natalie Mikat-Stevens, et al.European Journal of Human Genetics : EJHG|May 23, 2025
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic lociMathis Hildonen, Andrea Ciolfi, Marco Ferilli, et al.Molecular Genetics & Genomic Medicine|September 14, 2021
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanismsMegan Yabumoto, Jessica Kianmahd, Meghna Singh, et al.Journal of Inherited Metabolic Disease|July 19, 2020
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestionsBobby G Ng, Erik A Eklund, Sergey A Shiryaev, et al.Clinical Genetics|May 26, 2022
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorderMaria B Christensen, Amanda M Levy, Nazanin A Mohammadi, et al.Human Genetics|November 8, 2021
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspectsJuliette Coursimault, Anne-Marie Guerrot, Michelle M Morrow, et al.Nature Genetics|March 1, 2024
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathyAna Töpf, Dan Cox, Irina T Zaharieva, et al.Pageof 3