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Genome Medicine|January 10, 2018
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysisAlexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, et al.Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
<i>FRMPD4</i> , a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing lossDaniel Liedtke, Kristen Rak, Katrina M Schrode, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 2, 2022
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation studyLucy Loong, Agostina Tardivo, Alexej Knaus, et al.Nature Genetics|May 12, 2015
PDE3A mutations cause autosomal dominant hypertension with brachydactylyPhilipp G Maass, Atakan Aydin, Friedrich C Luft, et al.Ebiomedicine|April 25, 2025
Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnosticsChristopher C Y Mak, Hannah Klinkhammer, Sanaa Choufani, et al.Nature Genetics|February 11, 2022
GestaltMatcher facilitates rare disease matching using facial phenotype descriptorsTzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, et al.American Journal of Human Genetics|July 2, 2019
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe CasesYoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Baratang, et al.American Journal of Human Genetics|January 25, 2024
Role of CAMK2D in neurodevelopment and associated conditionsPomme M F Rigter, Charlotte de Konink, Matthew J Dunn, et al.Nature Machine Intelligence|June 26, 2025
Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2GeneNikolas Pontikos, William A Woof, Siying Lin, et al.Human Genetics|December 20, 2023
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individualsAriane Schmetz, Hermann-Josef Lüdecke, Harald Surowy, et al.Pageof 7