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American Journal of Human Genetics|May 18, 2004
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type MaroteauxCynthia F Bartels, Hulya Bükülmez, Pius Padayatti, et al.Molecular Genetics and Metabolism|September 17, 2013
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxaAikaterini Dimopoulou, Björn Fischer, Thatjana Gardeitchik, et al.Genetics in Medicine Open|October 15, 2025
How does personal utility depend on clinical setting? Evidence from 3 cohortsElise Poole, Stephanie Luca, Daniel Assamad, et al.Neurology|August 13, 2013
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndromeKazuyuki Nakamura, Mitsuhiro Kato, Hitoshi Osaka, et al.American Journal of Human Genetics|May 14, 2026
A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicineMengqi Wang, Shaimaa Helal, Arteen Torabi-Marashi, et al.Nature Genetics|May 1, 2012
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degenerationJijun Wan, Michael Yourshaw, Hafsa Mamsa, et al.Kidney International|April 22, 2019
SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypesJung-Hyun Kim, Eun Young Park, David Chitayat, et al.Human Mutation|June 25, 2020
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disordersFatima Abdelfattah, Ariana Kariminejad, Anne-Karin Kahlert, et al.The Journal of Clinical Investigation|April 16, 2019
ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegenerationTakuo Hirose, Alfredo Cabrera-Socorro, David Chitayat, et al.Journal of Human Genetics|April 20, 2021
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analysesAnna Hammarsjö, Maria Pettersson, David Chitayat, et al.Pageof 45