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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 8, 2019
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephalyParanchai Boonsawat, Pascal Joset, Katharina Steindl, et al.
Brain : a Journal of Neurology|February 24, 2022
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephalyChiara Klöckner, J Pedro Fernández-Murray, Mahtab Tavasoli, et al.
European Journal of Human Genetics : EJHG|December 16, 2018
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number studySorina M Papuc, Lucia Abela, Katharina Steindl, et al.
American Journal of Human Genetics|August 21, 2024
Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signalingParanchai Boonsawat, Reza Asadollahi, Dunja Niedrist, et al.
American Journal of Human Genetics|May 14, 2024
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effectFang Yang, Anais Begemann, Nadine Reichhart, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2023
LHX2 haploinsufficiency causes a variable neurodevelopmental disorderCosima M Schmid, Anne Gregor, Gregory Costain, 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.
Pediatric Neurology|September 21, 2023
De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in ChildrenNatalie Ahmad, Walid Fazeli, Sophia Schließke, et al.
European Journal of Immunology|August 6, 2021
A pair of noncompeting neutralizing human monoclonal antibodies protecting from disease in a SARS-CoV-2 infection modelAntonia Sophia Peter, Edith Roth, Sebastian R Schulz, et al.
Human Genetics|March 25, 2024
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephalyCharlotte Herbst, Viktoria Bothe, Meret Wegler, et al.
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