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Nature Communications|October 30, 2022
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomesRobert Schöpflin, Uirá Souto Melo, Hossein Moeinzadeh, et al.
American Journal of Human Genetics|February 7, 2012
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephalyMatthew A Lines, Lijia Huang, Jeremy Schwartzentruber, et al.
Nature Communications|October 14, 2018
Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopeniaSharissa L Latham, Nadja Ehmke, Patrick Y A Reinke, et al.
Nature Genetics|August 31, 2010
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndromePeter M Krawitz, Michal R Schweiger, Christian Rödelsperger, et al.
Nature Communications|November 20, 2018
Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopeniaSharissa L Latham, Nadja Ehmke, Patrick Y A Reinke, et al.
Human Genetics|June 23, 2021
Genome sequencing in families with congenital limb malformationsJonas Elsner, Martin A Mensah, Manuel Holtgrewe, et al.
Human Mutation|October 4, 2012
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variabilityIzak J Bisschoff, Christine Zeschnigk, Denise Horn, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial DysfunctionNadja Ehmke, Luitgard Graul-Neumann, Lukasz Smorag, et al.
Elife|January 17, 2023
Gain-of-function variants in the ion channel gene <i>TRPM3</i> underlie a spectrum of neurodevelopmental disordersLydie Burglen, Evelien Van Hoeymissen, Leila Qebibo, et al.
European Journal of Human Genetics : EJHG|May 15, 2023
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individualsHenrike L Sczakiel, Max Zhao, Brigitte Wollert-Wulf, et al.
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