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Movement Disorders : Official Journal of the Movement Disorder Society|April 10, 2026
Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4Philip Harrer, Volker Kittke, Alice Saparov, et al.
Human Mutation|May 18, 2021
Extending the allelic spectrum at noncoding risk loci of orofacial cleftingFrederic Thieme, Leonie Henschel, Nigel L Hammond, et al.
Nature Genetics|April 4, 2017
Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytesMaximilian Witzel, Daniel Petersheim, Yanxin Fan, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 6, 2021
A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctionsMiguel Rodríguez de Los Santos, Marion Rivalan, Friederike S David, et al.
American Journal of Human Genetics|December 7, 2014
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndromeNadja Ehmke, Almuth Caliebe, Rainer Koenig, et al.
The Journal of Experimental Medicine|February 27, 2013
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndromeDaniel Kotlarz, Natalia Ziętara, Gulbu Uzel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2019
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristicsAllan Bayat, Alexej Knaus, Annika Wollenberg Juul, et al.
Ebiomedicine|November 30, 2024
Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya diseaseChia-Yi Li, Li-Wen Chen, Meng-Che Tsai, et al.
Nature Genetics|August 31, 2010
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndromePeter M Krawitz, Michal R Schweiger, Christian Rödelsperger, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial DysfunctionNadja Ehmke, Luitgard Graul-Neumann, Lukasz Smorag, et al.
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