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American Journal of Human Genetics|March 9, 2010
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalitiesBlake C Ballif, Aaron Theisen, Jill A Rosenfeld, et al.HGG Advances|November 1, 2025
Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila modelsKristy L Jay, Nikhita Gogate, Paige I Hall, et al.Journal of Genetic Counseling|September 4, 2019
Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testingChloe M Reuter, Jennefer N Kohler, Devon Bonner, et al.American Journal of Human Genetics|April 5, 2024
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetaseAmy G Jones, Matilde Aquilino, Rory J Tinker, et al.American Journal of Respiratory and Critical Care Medicine|January 9, 2023
The Genetic Landscape of Familial Pulmonary FibrosisQi Liu, Yuan Zhou, Joy D Cogan, et al.Molecular Genetics & Genomic Medicine|December 17, 2025
Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural AnalysesYutaka Furuta, Kimberly M Ezell, Rizwan Hamid, et al.American Journal of Respiratory and Critical Care Medicine|January 22, 2015
Rare variants in RTEL1 are associated with familial interstitial pneumoniaJoy D Cogan, Jonathan A Kropski, Min Zhao, et al.American Journal of Human Genetics|February 22, 2024
De novo variants in DENND5B cause a neurodevelopmental disorderMarcello Scala, Valeria Tomati, Matteo Ferla, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2020
Defining the clinical phenotype of Saul-Wilson syndromeCarlos R Ferreira, Wadih M Zein, Laryssa A Huryn, et al.American Journal of Respiratory and Critical Care Medicine|November 13, 2014
Extensive phenotyping of individuals at risk for familial interstitial pneumonia reveals clues to the pathogenesis of interstitial lung diseaseJonathan A Kropski, Jason M Pritchett, Donald F Zoz, et al.Pageof 15