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Neurogenetics|June 16, 2021
Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problemsMinh-Tuan Huynh, Marion Gérard, Kara Ranguin, et al.
American Journal of Medical Genetics. Part A|February 9, 2022
Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literatureJames Taylor, Michael Spiller, Kara Ranguin, et al.
European Journal of Human Genetics : EJHG|April 28, 2021
Speech and language deficits are central to SETBP1 haploinsufficiency disorderAngela Morgan, Ruth Braden, Maggie M K Wong, et al.
Research Square|April 10, 2023
A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndromeAfif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, et al.
Scientific Reports|August 10, 2023
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndromeAfif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, et al.
European Journal of Human Genetics : EJHG|August 14, 2020
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complicationsChristina Lissewski, Valérie Chune, Francesca Pantaleoni, et al.
Journal of Medical Genetics|December 16, 2020
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesisLisa Pavinato, Marina Villamor-Payà, Maria Sanchiz-Calvo, et al.
Science Advances|March 10, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and miceSarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, et al.
Nature Genetics|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionCaroline Nava, Benjamin Cogne, Amandine Santini, et al.
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