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European Journal of Human Genetics : EJHG|September 16, 2022
The performance of genome sequencing as a first-tier test for neurodevelopmental disordersBart P G H van der Sanden, Gaby Schobers, Jordi Corominas Galbany, et al.
Genome Medicine|February 14, 2024
Genome sequencing as a generic diagnostic strategy for rare diseaseGaby Schobers, Ronny Derks, Amber den Ouden, et al.
European Journal of Human Genetics : EJHG|September 15, 2021
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SONAlexander J M Dingemans, Kim M G Truijen, Jung-Hyun Kim, et al.
American Journal of Human Genetics|October 9, 2021
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotypeMarialetizia Motta, Giulia Fasano, Sina Gredy, et al.
American Journal of Human Genetics|March 28, 2017
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability SyndromeSandra Jansen, Sinje Geuer, Rolph Pfundt, et al.
Cell|July 8, 2014
Disruptive CHD8 mutations define a subtype of autism early in developmentRaphael Bernier, Christelle Golzio, Bo Xiong, et al.
Nature|October 15, 2020
Evidence for 28 genetic disorders discovered by combining healthcare and research dataJoanna Kaplanis, Kaitlin E Samocha, Laurens Wiel, et al.
American Journal of Human Genetics|December 7, 2015
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin SyndromeLindsay C Burrage, Wu-Lin Charng, Mohammad K Eldomery, et al.
The Journal of Clinical Investigation|March 12, 2014
Dominant β-catenin mutations cause intellectual disability with recognizable syndromic featuresValter Tucci, Tjitske Kleefstra, Andrea Hardy, et al.
International Journal of Molecular Sciences|November 26, 2022
Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser SyndromeLiselot van der Laan, Kathleen Rooney, Mariëlle Alders, et al.
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