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The Journal of Pediatrics|September 4, 2019
Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year ExperienceBarbara K Burton, George E Hoganson, Julie Fleischer, et al.
Biorxiv : the Preprint Server for Biology|January 16, 2026
Pannexin-1 channel activity regulates neurogenesis and cell survival in the developing cortexNorma K Hylton, David J Kang, Steven C Decker, et al.
Birth Defects Research|August 27, 2024
Paternal Valproate Treatment and Risk of Childhood Neurodevelopmental Disorders: Precautionary Regulatory Measures Are Insufficiently SubstantiatedJoan D Garey, Per Damkier, Anthony R Scialli, et al.
American Journal of Human Genetics|March 5, 2016
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous LipomatosisJames T Bennett, Tiong Yang Tan, Diana Alcantara, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 19, 2019
Rare SUZ12 variants commonly cause an overgrowth phenotypeSharri S Cyrus, Ana S A Cohen, Ruky Agbahovbe, et al.
American Journal of Human Genetics|April 14, 2015
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like FaciesMarcello Niceta, Emilia Stellacci, Karen W Gripp, et al.
Annals of Clinical and Translational Neurology|February 9, 2025
Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variantsRiley M McCarty, Dimah Saade, Pinki Munot, et al.
American Journal of Human Genetics|July 23, 2019
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar HypoplasiaOguz Kanca, Jonathan C Andrews, Pei-Tseng Lee, et al.
American Journal of Medical Genetics. Part A|February 4, 2005
Further delineation of Kabuki syndrome in 48 well-defined new individualsLinlea Armstrong, Azza Abd El Moneim, Kirk Aleck, et al.
JAMA Neurology|July 24, 2023
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in PolymicrogyriaShyam K Akula, Allen Y Chen, Jennifer E Neil, et al.
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