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Annals of Neurology|September 12, 2017
Mutations of KIF14 cause primary microcephaly by impairing cytokinesisAbubakar Moawia, Ranad Shaheen, Sajida Rasool, et al.
American Journal of Human Genetics|January 31, 2017
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired EndocytosisMarkus Riessland, Anna Kaczmarek, Svenja Schneider, et al.
Human Mutation|August 30, 2019
A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2Meliha Karsak, Konstantin Glebov, Marina Scheffold, et al.
American Journal of Human Genetics|March 29, 2008
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasiaCarsten Bergmann, Manfred Fliegauf, Nadina Ortiz Brüchle, et al.
Journal of Medical Genetics|July 31, 2017
Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsiesEduardo Pérez-Palma, Ingo Helbig, Karl Martin Klein, et al.
Molecular Genetics & Genomic Medicine|July 18, 2020
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from PakistanSajida Rasool, Jamshaid Mahmood Baig, Abubakar Moawia, et al.
Scientific Reports|January 30, 2019
Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestryBernabé I Bustos, Eduardo Pérez-Palma, Stephan Buch, et al.
JAMA Oncology|July 18, 2017
Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical TrialEric Hahnen, Bianca Lederer, Jan Hauke, et al.
American Journal of Human Genetics|December 3, 2014
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndromeMuhammad Sajid Hussain, Agatino Battaglia, Sandra Szczepanski, et al.
Med (New York, N.Y.)|May 19, 2022
In-depth cell-free DNA sequencing reveals genomic landscape of Hodgkin's lymphoma and facilitates ultrasensitive residual disease detectionSophia Sobesky, Laman Mammadova, Melita Cirillo, et al.
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