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Human Genetics|November 20, 2018
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutationsDavor Lessel, Ayse Bilge Ozel, Susan E Campbell, et al.
British Journal of Cancer|February 22, 2023
Genomic ALK alterations in primary and relapsed neuroblastomaCarolina Rosswog, Jana Fassunke, Angela Ernst, et al.
American Journal of Human Genetics|October 2, 2012
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetryHeike Olbrich, Miriam Schmidts, Claudius Werner, et al.
Genome Research|January 13, 2016
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and miceMalte Spielmann, Naseebullah Kakar, Naeimeh Tayebi, et al.
Brain : a Journal of Neurology|January 5, 2013
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophiesSebahattin Cirak, Aileen Reghan Foley, Ralf Herrmann, et al.
Annals of Neurology|March 5, 2014
DEPDC5 mutations in genetic focal epilepsies of childhoodDennis Lal, Eva M Reinthaler, Julian Schubert, et al.
Blood|January 9, 2016
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndromeSandra Ammann, Ansgar Schulz, Ingeborg Krägeloh-Mann, et al.
Genome Medicine|August 23, 2023
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletionsNikolai Tschernoster, Florian Erger, Stefan Kohl, et al.
Epilepsy Research|July 30, 2015
Investigation of GRIN2A in common epilepsy phenotypesDennis Lal, Sandra Steinbrücker, Julian Schubert, et al.
The Journal of Clinical Investigation|August 29, 2017
Dysfunction of the MDM2/p53 axis is linked to premature agingDavor Lessel, Danyi Wu, Carlos Trujillo, et al.
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