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Proceedings of the National Academy of Sciences of the United States of America|March 6, 2019
Genomic and molecular characterization of preterm birthTheo A Knijnenburg, Joseph G Vockley, Nyasha Chambwe, et al.Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America|November 17, 2025
IL12RB1 deficiency appearing in North America: expanding the clinical phenotypesChen Wang, Beatriz E Marciano, Annalie J Harris, et al.Science Advances|February 4, 2020
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancerKezhi Yan, Justine Rousseau, Keren Machol, et al.Cell|April 24, 2012
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundariesMichael E Talkowski, Jill A Rosenfeld, Ian Blumenthal, et al.Nature|October 29, 2020
Strategic vision for improving human health at The Forefront of GenomicsEric D Green, Chris Gunter, Leslie G Biesecker, et al.Kidney International|October 25, 2013
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL associationPawaree Saisawat, Stefan Kohl, Alina C Hilger, et al.Journal of Medical Genetics|December 4, 2009
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individualsBenjamin D Solomon, Felicitas Lacbawan, Sandra Mercier, et al.American Journal of Human Genetics|August 6, 2024
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorderMarie Morimoto, Eunjin Ryu, Benjamin J Steger, et al.Journal of Medical Genetics|July 14, 2012
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic HedgehogBenjamin D Solomon, Kelly A Bear, Adrian Wyllie, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2019
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literatureErin Torti, Boris Keren, Elizabeth E Palmer, et al.Pageof 16