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American Journal of Human Genetics|June 12, 2012
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardationPeter M Krawitz, Yoshiko Murakami, Jochen Hecht, et al.
HGG Advances|January 2, 2023
Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of <i>de novo</i> mutationsHanna K Zieger, Leonie Weinhold, Axel Schmidt, et al.
Pediatric Radiology|November 12, 2023
Deeplasia: deep learning for bone age assessment validated on skeletal dysplasiasSebastian Rassmann, Alexandra Keller, Kyra Skaf, et al.
NPJ Genomic Medicine|July 2, 2021
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19Axel Schmidt, Sophia Peters, Alexej Knaus, et al.
American Journal of Human Genetics|October 2, 2012
Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locusMalte Spielmann, Francesco Brancati, Peter M Krawitz, et al.
European Journal of Medical Genetics|December 6, 2019
A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorderMiles D Thompson, Alexej A Knaus, Bruce A Barshop, et al.
Human Mutation|April 28, 2016
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation SyndromeAlexej Knaus, Tomonari Awaya, Ingo Helbig, et al.
The Journal of Clinical Investigation|August 21, 2019
Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammationBritta Höchsmann, Yoshiko Murakami, Makiko Osato, et al.
American Journal of Human Genetics|March 26, 2019
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial PhenotypingFelix Marbach, Cecilie F Rustad, Angelika Riess, et al.
American Journal of Human Genetics|January 21, 2014
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardationMalcolm F Howard, Yoshiko Murakami, Alistair T Pagnamenta, et al.
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