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Journal of Medical Genetics|August 24, 2019
De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathyJoohyun Park, Bianca R Flores, Katalin Scherer, et al.Scientific Reports|May 8, 2024
Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypesJan-Philipp Bodenbender, Valerio Marino, Julia Philipp, et al.Orphanet Journal of Rare Diseases|February 6, 2020
Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genesLeigh C Carmody, Hannah Blau, Daniel Danis, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Breast and prostate cancer risk: The interplay of polygenic risk, rare pathogenic germline variants, and family historyEmadeldin Hassanin, Patrick May, Rana Aldisi, et al.JIMD Reports|January 4, 2016
Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?Charlotte Thiels, Martin Fleger, Martina Huemer, et al.Orphanet Journal of Rare Diseases|February 18, 2014
X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutationMatthis Synofzik, Jennifer Müller vom Hagen, Tobias B Haack, et al.Journal of Inherited Metabolic Disease|May 4, 2016
Genetic cause and prevalence of hydroxyprolinemiaChristian Staufner, Tobias B Haack, Patrik Feyh, et al.Bioinformatics (Oxford, England)|February 1, 2011
Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disordersChristian Rödelsperger, Peter Krawitz, Sebastian Bauer, et al.American Journal of Human Genetics|October 6, 2009
Clinical diagnostics in human genetics with semantic similarity searches in ontologiesSebastian Köhler, Marcel H Schulz, Peter Krawitz, et al.Briefings in Bioinformatics|January 11, 2021
DeepCNV: a deep learning approach for authenticating copy number variationsJoseph T Glessner, Xiurui Hou, Cheng Zhong, et al.Pageof 39