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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiencyJames Fasham, Siying Lin, Promita Ghosh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 23, 2018
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variantsJennifer J Johnston, Jasper J van der Smagt, Jill A Rosenfeld, et al.
American Journal of Medical Genetics. Part A|November 1, 2018
What is new with 22q? An update from the 22q and You Center at the Children's Hospital of PhiladelphiaIan M Campbell, Sarah E Sheppard, T Blaine Crowley, et al.
American Journal of Medical Genetics. Part A|October 6, 2018
Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjectsYingjie Zhao, Tingwei Guo, Ania Fiksinski, et al.
American Journal of Human Genetics|July 31, 2018
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental DisorderAnne Gregor, Lynette G Sadleir, Reza Asadollahi, et al.
Science Advances|May 1, 2023
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafishVictoria Patterson, Farid Ullah, Laura Bryant, et al.
American Journal of Medical Genetics. Part A|March 23, 2017
22q11.2 deletion syndrome in diverse populationsPaul Kruszka, Yonit A Addissie, Daniel E McGinn, et al.
HGG Advances|November 21, 2022
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorderLot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, et al.
American Journal of Human Genetics|November 3, 2018
NFIB Haploinsufficiency Is Associated with Intellectual Disability and MacrocephalyIna Schanze, Jens Bunt, Jonathan W C Lim, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 18, 2019
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basisKarin Weiss, Hayley P Lazar, Alina Kurolap, et al.
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