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Open Forum Infectious Diseases|September 22, 2025
Investigating Bacterial Vaginosis Pathogenesis Using Peptide Nucleic Acid-Fluorescence In Situ Hybridization With a Focus on the Roles of Gardnerella Species, Prevotella bivia, and Fannyhessea vaginaeSheridan D George, Megan H Amerson-Brown, Lúcia G V Sousa, et al.
Genome Medicine|November 2, 2016
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomicsMaria Nicla Loviglio, Christine R Beck, Janson J White, et al.
The New England Journal of Medicine|October 4, 2013
Clinical whole-exome sequencing for the diagnosis of mendelian disordersYaping Yang, Donna M Muzny, Jeffrey G Reid, et al.
Genetics in Medicine Open|January 16, 2026
An evaluation of genetic predisposition to congenital anomalies and pediatric cancer supports KAT6B as a novel neuroblastoma susceptibility geneHyunjung Gu, Yao Yu, Saumya Dushyant Sisoudiya, et al.
Genome Medicine|April 25, 2019
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndromeClaudia M B Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, et al.
The Journal of Clinical Investigation|June 3, 2020
Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AIDMarcel Kuhny, Lisa R Forbes, Elif Çakan, et al.
Genome Medicine|September 30, 2018
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorderElizabeth A Normand, Alicia Braxton, Salma Nassef, et al.
Human Molecular Genetics|September 13, 2016
Targeted sequencing of genome wide significant loci associated with bone mineral density (BMD) reveals significant novel and rare variants: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) targeted sequencing studyYi-Hsiang Hsu, Guo Li, Ching-Ti Liu, et al.
American Journal of Human Genetics|March 31, 2015
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndromeJanson White, Juliana F Mazzeu, Alexander Hoischen, et al.
Genome Medicine|November 2, 2017
Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patternsAlexander H Li, Neil A Hanchard, Dieter Furthner, et al.
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