Rare missense variant in MSH4 associated with primary gonadal failure in both 46, XX and 46, XY individuals

Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men

(2020) Csilla Krausz et al.   GENETICS IN MEDICINE

A systematic review and standardized clinical validity assessment of male infertility genes

(2019) Manon S Oud et al.   HUMAN REPRODUCTION

ADCY10 frameshift variant leading to severe recessive asthenozoospermia and segregating with absorptive hypercalciuria

(2019) Arvand Akbari et al.   HUMAN REPRODUCTION

Iranome: A catalogue of genomic variations in the Iranian population

(2019) Zohreh Fattahi et al.   HUMAN MUTATION

CDD/SPARCLE: the conserved domain database in 2020

(2019) Shennan Lu et al.   NUCLEIC ACIDS RESEARCH

Evaluation of the azoospermic male: a committee opinion

(2018) Kathleen Hwang et al.   FERTILITY AND STERILITY

DMC1mutation that causes human non-obstructive azoospermia and premature ovarian insufficiency identified by whole-exome sequencing

(2018) Wen-Bin He et al.   JOURNAL OF MEDICAL GENETICS

Predicting the clinical impact of human mutation with deep neural networks

(2018) Laksshman Sundaram et al.   NATURE GENETICS

Molecular Genetics of Premature Ovarian Insufficiency

(2018) Xue Jiao et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

XRCC2 mutation causes premature ovarian insufficiency as well as non-obstructive azoospermia in humans

(2018) Ya-Xin Zhang et al.   CLINICAL GENETICS

UniProt: a worldwide hub of protein knowledge

(2018)   NUCLEIC ACIDS RESEARCH

InterPro in 2019: improving coverage, classification and access to protein sequence annotations

(2018) Alex L Mitchell et al.   NUCLEIC ACIDS RESEARCH

Recent developments in genetics and medically assisted reproduction: from research to clinical applications

(2017) J. C. Harper et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in MSH5 in primary ovarian insufficiency

(2017) Ting Guo et al.   HUMAN MOLECULAR GENETICS

Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation

(2017) Abdulmoein Eid Al-Agha et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

DEOGEN2: prediction and interactive visualization of single amino acid variant deleteriousness in human proteins

(2017) Daniele Raimondi et al.   NUCLEIC ACIDS RESEARCH

Recent advances in the genetics of testicular failure

(2016) DoloresJ Lamb et al.   ASIAN JOURNAL OF ANDROLOGY

Expanding the genotypic spectrum of Perrault syndrome

(2016) L.A.M. Demain et al.   CLINICAL GENETICS

The conserved molecular machinery in DNA mismatch repair enzyme structures

(2016) Flora S. Groothuizen et al.   DNA REPAIR

Roles for mismatch repair family proteins in promoting meiotic crossing over

(2016) Carol M. Manhart et al.   DNA REPAIR

ESHRE Guideline: management of women with premature ovarian insufficiency

(2016)   HUMAN REPRODUCTION

The HADDOCK2.2 Web Server: User-Friendly Integrative Modeling of Biomolecular Complexes

(2016) G.C.P. van Zundert et al.   JOURNAL OF MOLECULAR BIOLOGY

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

(2016) Karthik A Jagadeesh et al.   NATURE GENETICS

An integrative approach to predicting the functional effects of non-coding and coding sequence variation

(2015) Hashem A. Shihab et al.   BIOINFORMATICS

Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia

(2015) Esther Maor-Sagie et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Homozygous Loss-of-function Mutations inSOHLH1in Patients With Nonsyndromic Hypergonadotropic Hypogonadism

(2015) Yavuz Bayram et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure

(2015) Yardena Tenenbaum-Rakover et al.   JOURNAL OF MEDICAL GENETICS

Meiotic Recombination: The Essence of Heredity

(2015) Neil Hunter   Cold Spring Harbor Perspectives in Biology

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

(2015) C. Dong et al.   HUMAN MOLECULAR GENETICS

DANN: a deep learning approach for annotating the pathogenicity of genetic variants

(2014) Daniel Quang et al.   BIOINFORMATICS

STAG3 is a strong candidate gene for male infertility

(2014) Elena Llano et al.   HUMAN MOLECULAR GENETICS

Exome Sequencing Reveals SYCE1 Mutation Associated With Autosomal Recessive Primary Ovarian Insufficiency

(2014) Liat de Vries et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Mechanism and Regulation of Meiotic Recombination Initiation

(2014) Isabel Lam et al.   Cold Spring Harbor Perspectives in Biology

Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

(2013) Emma M. Jenkinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Meiotic recombination in mammals: localization and regulation

(2013) Frédéric Baudat et al.   NATURE REVIEWS GENETICS

Pfam: the protein families database

(2013) Robert D. Finn et al.   NUCLEIC ACIDS RESEARCH

The Wilms Tumor Gene, Wt1, Is Critical for Mouse Spermatogenesis via Regulation of Sertoli Cell Polarity and Is Associated with Non-Obstructive Azoospermia in Humans

(2013) Xiao Na Wang et al.   PLoS Genetics

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

Aging and Declining Testosterone: Past, Present, and Hopes for the Future

(2012) B. R. Zirkin et al.   JOURNAL OF ANDROLOGY

New and continuing developments at PROSITE

(2012) Christian J. A. Sigrist et al.   NUCLEIC ACIDS RESEARCH

Primer3—new capabilities and interfaces

(2012) Andreas Untergasser et al.   NUCLEIC ACIDS RESEARCH

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Spo11-Accessory Proteins Link Double-Strand Break Sites to the Chromosome Axis in Early Meiotic Recombination

(2011) Silvia Panizza et al.   CELL

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1

(2010) Anu Bashamboo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Mutations in SOHLH1 gene associate with nonobstructive Azoospermia

(2010) Youngsok Choi et al.   HUMAN MUTATION

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

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

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Mutations inNR5A1Associated with Ovarian Insufficiency

(2009) Diana Lourenço et al.   NEW ENGLAND JOURNAL OF MEDICINE

Proteins Involved in Meiotic Recombination: A Role in Male Infertility?

(2009) Matthew L. Sanderson et al.   Systems Biology in Reproductive Medicine

Mutations in the signature motif in MutS affect ATP-induced clamp formation and mismatch repair

(2008) Samir Acharya   MOLECULAR MICROBIOLOGY

Human exonuclease 1 and BLM helicase interact to resect DNA and initiate DNA repair

(2008) A. V. Nimonkar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA