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International Journal of Molecular Sciences|March 6, 2021
Clinical Phenotype of PDE6B-Associated Retinitis PigmentosaLaura Kuehlewein, Ditta Zobor, Katarina Stingl, et al.Neurology. Genetics|December 13, 2021
Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With DystoniaJoohyun Park, Annemarie Reilaender, Jan N Petry-Schmelzer, et al.Deutsches Arzteblatt International|May 7, 2019
Exome Sequencing in ChildrenElisa A Mahler, Jessika Johannsen, Konstantinos Tsiakas, et al.Genome Research|October 29, 2013
Improved exome prioritization of disease genes through cross-species phenotype comparisonPeter N Robinson, Sebastian Köhler, Anika Oellrich, et al.European Journal of Human Genetics : EJHG|October 17, 2013
Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndromeDenise Horn, Dagmar Wieczorek, Kay Metcalfe, et al.European Journal of Human Genetics : EJHG|March 28, 2020
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discoveryHolger Hengel, Rebecca Buchert, Marc Sturm, et al.Molecular Vision|August 2, 2017
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous familiesAsmat Ullah, Muhammad Umair, Maryam Yousaf, et al.Journal of Medical Genetics|September 17, 2017
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large familyBenjamin Roeben, Rebecca Schüle, Susanne Ruf, et al.European Journal of Medical Genetics|November 14, 2018
Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11Karit Reinson, Reka Kovacs-Nagy, Eve Õiglane-Shlik, et al.European Journal of Human Genetics : EJHG|September 8, 2023
Variants in EFCAB7 underlie nonsyndromic postaxial polydactylyMuhammad Bilal, Hammal Khan, Muhammad Javed Khan, et al.Pageof 39