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European Journal of Human Genetics : EJHG|April 27, 2022
Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genesKatinka Breuer, Korbinian M Riedhammer, Nicole Müller, et al.
European Journal of Human Genetics : EJHG|April 28, 2022
Returning individual research results in international direct-to-participant genomic research: results from a 31-country studyMichael Lang, Ma'n H Zawati
European Journal of Human Genetics : EJHG|April 23, 2022
Germline variant in Ctcf links mental retardation to Wilms tumor predispositionPablo Gargallo, Silvestre Oltra, María Tasso, et al.
European Journal of Human Genetics : EJHG|July 13, 2022
'Diagnostic shock': the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioningHilary Bowman-Smart, Danya F Vears, Gemma R Brett, et al.
European Journal of Human Genetics : EJHG|June 16, 2019
De novo variants in CNOT3 cause a variable neurodevelopmental disorderR Martin, M Splitt, D Genevieve, et al.
European Journal of Human Genetics : EJHG|July 10, 2019
Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders groupCamille Lemattre, Marion Imbert-Bouteille, Vincent Gatinois, et al.
European Journal of Human Genetics : EJHG|July 10, 2019
Genetic relationships of European, Mediterranean, and SW Asian populations using a panel of 55 AISNPsAndrew J Pakstis, Cemal Gurkan, Mustafa Dogan, et al.
European Journal of Human Genetics : EJHG|July 11, 2019
A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patientsGara Samara Brajadenta, Frédéric Bilan, Brigitte Gilbert-Dussardier, et al.
European Journal of Human Genetics : EJHG|January 24, 2022
Prevalence and natural history of schwannomas in neurofibromatosis type 2 (NF2): the influence of pathogenic variantsDaniel Moualed, Jonathan Wong, Owen Thomas, et al.
European Journal of Human Genetics : EJHG|April 7, 2022
16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencingRomain Nicolle, Karine Siquier-Pernet, Marlène Rio, et al.
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