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Journal of Inherited Metabolic Disease|September 17, 2023
Classical homocystinuria presenting with transient basal ganglia pathology and dystoniaLuisa Averdunk, Eva Thimm, Dirk Klee, et al.
International Review of Neurobiology|November 12, 2013
BPAN: the only X-linked dominant NBIA disorderTobias B Haack, Penny Hogarth, Allison Gregory, et al.
Genes|January 26, 2024
Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic PipelineJoohyun Park, Marc Sturm, Olga Seibel-Kelemen, et al.
Molecular Genetics & Genomic Medicine|July 21, 2021
Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease processFrederik Braun, Andrea Gangfuß, Petra Stöbe, et al.
Clinical Epigenetics|October 20, 2020
Novel mutation points to a hot spot in CDKN1C causing Silver-Russell syndromeGerhard Binder, Julian Ziegler, Roland Schweizer, et al.
International Journal of Molecular Sciences|June 2, 2021
Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site VariantsNicole Weisschuh, Pascale Mazzola, Miriam Bertrand, et al.
Human Molecular Genetics|September 24, 2021
Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanismsNicole Weisschuh, Valerio Marino, Karin Schäferhoff, et al.
Molecular Syndromology|December 7, 2023
Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot MalformationMuhammad Bilal, Tobias B Haack, Rebecca Buchert, et al.
Nutrition (Burbank, Los Angeles County, Calif.)|July 3, 2021
Resolution of severe hepatosteatosis in a cystic fibrosis patient with multifactorial choline deficiency: A case reportWolfgang Bernhard, Anna Shunova, Jürgen Machann, et al.
American Journal of Medical Genetics. Part A|July 9, 2011
Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrumDenise Horn, Peter Krawitz, Anca Mannhardt, et al.
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