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Current Biology : CB|August 12, 2008
Correlation between genetic and geographic structure in EuropeOscar Lao, Timothy T Lu, Michael Nothnagel, et al.
Genome Medicine|January 8, 2026
DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defectsGregor Dombrowsky, Liselot van der Laan, Ananília Silva, et al.
Infection|June 26, 2025
The effect of antibiotic therapy on clinical outcome in patients hospitalized with moderate COVID-19 disease: a prospective multi-center cohort studyAnette Friedrichs, Roman Wenz, Daniel Pape, et al.
Nature|February 9, 2023
Aberrant phase separation and nucleolar dysfunction in rare genetic diseasesMartin A Mensah, Henri Niskanen, Alexandre P Magalhaes, et al.
Nature Genetics|November 3, 2014
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromesJulian Schubert, Aleksandra Siekierska, Mélanie Langlois, et al.
Neurology|February 12, 2016
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsyHannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, et al.
Human Molecular Genetics|August 3, 2013
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodelingDagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, et al.
Plos Genetics|September 21, 2021
Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart diseaseEnrique Audain, Anna Wilsdon, Jeroen Breckpot, et al.
Plos Genetics|July 29, 2021
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart diseaseEnrique Audain, Anna Wilsdon, Jeroen Breckpot, et al.
Genome Medicine|September 17, 2025
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosisDaniel Kaschta, Christina Post, Franziska Gaass, et al.
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