Bi-allelic variants in DNAH10 cause asthenoteratozoospermia and male infertility

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang, Man Li, Håkon Håkonarson · Nucleic Acids Research · 2010 · 15.6K citations · Full text

Life Sciences, Bioinformatics, Genetics +17

dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs

Xiaoming Liu, Chang Li, Chengcheng Mou et al. · Genome Medicine · 2020 · 713 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella

Mariem Ben Khelifa, Charles Coutton, Raoudha Zouari et al. · The American Journal of Human Genetics · 2013 · 479 citations · Full text

Medicine, Genetics, Molecular Genetics +16

<i>DNAH5</i> Mutations are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects

Nada Hornef, Heike Olbrich, Judit Horváth et al. · American Journal of Respiratory and Critical Care Medicine · 2006 · 355 citations

Life Sciences, Genetics, Molecular Genetics +15

VarCards: an integrated genetic and clinical database for coding variants in the human genome

Jinchen Li, Leisheng Shi, Kun Zhang et al. · Nucleic Acids Research · 2017 · 213 citations · Full text

Life Sciences, Bioinformatics, Genetics +17