The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

(2017) Dorota Monies et al.   GENETICS IN MEDICINE

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

(2017) Peter D. Stenson et al.   HUMAN GENETICS

A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield

(2017) Ahmed Alfares et al.   MOLECULAR GENETICS AND METABOLISM

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

(2017) Jennifer E. Posey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

(2016) Daniel Trujillano et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

(2016) Sarah S. Kalia et al.   GENETICS IN MEDICINE

Increasing the sensitivity of clinical exome sequencing through improved filtration strategy

(2016) Hanan E. Shamseldin et al.   GENETICS IN MEDICINE

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

(2016) S Anazi et al.   MOLECULAR PSYCHIATRY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders

(2015) Tarunashree Yavarna et al.   HUMAN GENETICS

Natural human knockouts and the era of genotype to phenotype

(2015) Fowzan S Alkuraya   Genome Medicine

De novo assembly of bacterial transcriptomes from RNA-seq data

(2015) Brian Tjaden   GENOME BIOLOGY

Overlap between CHARGE and Kabuki syndromes: More than an interesting clinical observation?

(2014) Nisha Patel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

p600/UBR4 in the central nervous system

(2014) Kari Parsons et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Genetics and genomic medicine in Saudi Arabia

(2014) Fowzan S. Alkuraya   Molecular Genetics & Genomic Medicine

Mutation inFAM134Bcausing hereditary sensory neuropathy with spasticity in a Turkish family

(2013) Elif Ilgaz Aydinlar et al.   MUSCLE & NERVE

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families

(2012) Cynthia V. Bourassa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autozygosity Mapping with Exome Sequence Data

(2012) Ian M. Carr et al.   HUMAN MUTATION

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf–Hirschhorn syndrome

(2009) Keisuke Nimura et al.   NATURE

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

(2009) Ingo Kurth et al.   NATURE GENETICS