A comprehensive strategy for exome-based preconception carrier screening

Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases

(2016) Mirjam Plantinga et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Responsible implementation of expanded carrier screening

(2016) Lidewij Henneman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine

(2016) Anna Abulí et al.   HUMAN MUTATION

Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy

(2015) Minh Nguyen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Targeted carrier screening for four recessive disorders: High detection rate within a founder population

(2015) Inge B. Mathijssen et al.   European Journal of Medical Genetics

Comprehensive carrier genetic test using next-generation deoxyribonucleic acid sequencing in infertile couples wishing to conceive through assisted reproductive technology

(2015) Julio Martin et al.   FERTILITY AND STERILITY

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions

(2015) Stefan H. Lelieveld et al.   HUMAN MUTATION

First steps in exploring prospective exome sequencing of consanguineous couples

(2014) Marieke Teeuw et al.   European Journal of Medical Genetics

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

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

(2014) Martin Kircher et al.   NATURE GENETICS

Consanguinity and pregnancy outcomes in a multi-ethnic, metropolitan European population

(2014) Rolf Becker et al.   PRENATAL DIAGNOSIS

Carrier Screening: Past, Present, and Future

(2014) Komal Bajaj et al.   Journal of Clinical Medicine

Mutations in gamma adducin are associated with inherited cerebral palsy

(2013) Michael C. Kruer et al.   ANNALS OF NEUROLOGY

Targeted sequencing in candidate genes for atrial fibrillation: The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study

(2013) Honghuang Lin et al.   HEART RHYTHM

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Allelic Variants Relate to Shifts in Faecal Microbiota of Cystic Fibrosis Patients

(2013) Serena Schippa et al.   PLoS One

Predicting Mendelian Disease-Causing Non-Synonymous Single Nucleotide Variants in Exome Sequencing Studies

(2013) Miao-Xin Li et al.   PLoS Genetics

The dangers of including nonclassical cystic fibrosis variants in population-based screening panels: p.L997F, further genotype/phenotype correlation data

(2011) Charles M. Strom et al.   GENETICS IN MEDICINE

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

(2011) C. J. Bell et al.   Science Translational Medicine

Two different fibrinogen gene mutations associated with bleeding in the same family (AαGly13Glu and γGly16Ser) and their impact on fibrin clot properties: Fibrinogen Krakow II and Krakow III

(2011) Danuta Pietrys et al.   THROMBOSIS AND HAEMOSTASIS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy

(2009) Sylvain Hanein et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

African Genetic Diversity: Implications for Human Demographic History, Modern Human Origins, and Complex Disease Mapping

(2008) Michael C. Campbell et al.   Annual Review of Genomics and Human Genetics