Discovery of mutations for Mendelian disorders

Evolving New Skeletal Traits by cis -Regulatory Changes in Bone Morphogenetic Proteins

(2016) Vahan B. Indjeian et al.   CELL

Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy?

(2016) Wafaa Sewairi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder

(2016) Hanan E. Shamseldin et al.   HUMAN GENETICS

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

(2015) Hanan Shamseldin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2015) Tarunashree Yavarna et al.   HUMAN GENETICS

Participant-Driven Matchmaking in the Genomic Era

(2015) Katherine F. Lambertson et al.   HUMAN MUTATION

Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses

(2015) Ian M. Campbell et al.   HUMAN MUTATION

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

(2015) Anthony A. Philippakis et al.   HUMAN MUTATION

Identification of cis-suppression of human disease mutations by comparative genomics

(2015) Daniel M. Jordan et al.   NATURE

Human knockout research: new horizons and opportunities

(2015) Fowzan S. Alkuraya   TRENDS IN GENETICS

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

(2015) Anas M. Alazami et al.   Cell Reports

Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families

(2015) Hanan E. Shamseldin et al.   GENOME BIOLOGY

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

(2015)   GENOME BIOLOGY

Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome

(2014) Dagmar Wieczorek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH

(2014) Ranad Shaheen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied and treated

(2014) Matthew Might et al.   GENETICS IN MEDICINE

Genomic analysis of primordial dwarfism reveals novel disease genes

(2014) R. Shaheen et al.   GENOME RESEARCH

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3

(2014) A. M. Alazami et al.   NEUROLOGY

Somatic Mutations in Cerebral Cortical Malformations

(2014) Saumya S. Jamuar et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy

(2013) Xiaowu Gai et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in DNA2 Link Progressive Myopathy to Mitochondrial DNA Instability

(2013) Dario Ronchi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in LRPAP1 Are Associated with Severe Myopia in Humans

(2013) Mohammed A. Aldahmesh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

(2013) Ranad Shaheen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Gonadal mosaicism as a rare cause of autosomal recessive inheritance

(2013) S. Anazi et al.   CLINICAL GENETICS

The application of next-generation sequencing in the autozygosity mapping of human recessive diseases

(2013) Fowzan S. Alkuraya   HUMAN GENETICS

A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency

(2013) Ranad Shaheen et al.   JOURNAL OF MEDICAL GENETICS

High rate of mosaicism in individuals with Cornelia de Lange syndrome

(2013) Sylvia A Huisman et al.   JOURNAL OF MEDICAL GENETICS

SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3

(2013) K. Nakhro et al.   NEUROLOGY

Genome Mosaicism--One Human, Multiple Genomes

(2013) J. R. Lupski   SCIENCE

Autozygome Sequencing Expands the Horizon of Human Knockout Research and Provides Novel Insights into Human Phenotypic Variation

(2013) Ahmed B. Alsalem et al.   PLoS Genetics

Weaver syndrome and defective cortical development: A rare association

(2012) Ahmed Al-Salem et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing

(2012) Hanan E. Shamseldin et al.   GENETICS IN MEDICINE

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

(2012) Hanan E Shamseldin et al.   JOURNAL OF MEDICAL GENETICS

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined byTMEM38Bmutation

(2012) Ranad Shaheen et al.   JOURNAL OF MEDICAL GENETICS

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

(2012) Cornelis A Albers et al.   NATURE GENETICS

De novo mutations in human genetic disease

(2012) Joris A. Veltman et al.   NATURE REVIEWS GENETICS

Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia

(2011) Mohammed A. Aldahmesh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel syndromic form of sensory-motor polyneuropathy is linked to chromosome 22q13.31-q13.33

(2011) S Bohlega et al.   CLINICAL GENETICS

Novel recessive BFSP2 and PITX3 mutations: Insights into mutational mechanisms from consanguineous populations

(2011) Mohammed A. Aldahmesh et al.   GENETICS IN MEDICINE

Gene Targeting of the Cysteine Peptidase Cathepsin H Impairs Lung Surfactant in Mice

(2011) Frank Bühling et al.   PLoS One

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

Mendelian disorders and multifactorial traits: the big divide or one for all?

(2010) Stylianos E. Antonarakis et al.   NATURE REVIEWS GENETICS

Uncovering the roles of rare variants in common disease through whole-genome sequencing

(2010) Elizabeth T. Cirulli et al.   NATURE REVIEWS GENETICS

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

(2010) James R. Lupski et al.   NEW ENGLAND JOURNAL OF MEDICINE