Autozygome and high throughput confirmation of disease genes candidacy

Expanding the phenome and variome of skeletal dysplasia

(2018) Sateesh Maddirevula et al.   GENETICS IN MEDICINE

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

(2018) Caroline F Wright et al.   GENETICS IN MEDICINE

Paediatric genomics: diagnosing rare disease in children

(2018) Caroline F. Wright et al.   NATURE REVIEWS GENETICS

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

(2017) Dorota Monies et al.   GENETICS IN MEDICINE

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

(2017) Sophie Nambot et al.   GENETICS IN MEDICINE

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

(2017) Dorota Monies et al.   HUMAN GENETICS

Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

(2017) Erica D. Smith et al.   HUMAN MUTATION

PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder

(2017) Takeshi Mizuguchi et al.   JOURNAL OF HUMAN GENETICS

Lessons learned from additional research analyses of unsolved clinical exome cases

(2017) Mohammad K. Eldomery et al.   Genome Medicine

Joint laxity in homozygotes for severePOU1F1mutations

(2016) Hanan E. Shamseldin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

ADAT3-related intellectual disability: Further delineation of the phenotype

(2016) Ayman W. El-Hattab et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

(2016) Mohamed Abouelhoda 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

Discovery of mutations for Mendelian disorders

(2016) Fowzan S. Alkuraya   HUMAN GENETICS

New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre

(2016) Ewa Pronicka et al.   Journal of Translational Medicine

Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort

(2015) Ranad Shaheen et al.   GENETICS IN MEDICINE

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

T (brachyury) is linked to a Mendelian form of neural tube defects in humans

(2015) Ranad Shaheen et al.   HUMAN GENETICS

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

(2015) Nara Sobreira et al.   HUMAN MUTATION

A novelAPCmutation defines a second locus for Cenani–Lenz syndrome

(2015) Nisha Patel et al.   JOURNAL OF MEDICAL GENETICS

Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy

(2015) G McMichael et al.   MOLECULAR PSYCHIATRY

Human knockout research: new horizons and opportunities

(2015) Fowzan S. Alkuraya   TRENDS IN GENETICS

Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS

(2015) Karyn Meltz Steinberg et al.   Scientific Reports

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

Haploinsufficiency of Dmxl2, Encoding a Synaptic Protein, Causes Infertility Associated with a Loss of GnRH Neurons in Mouse

(2014) Brooke Tata et al.   PLOS BIOLOGY

Genetics and genomic medicine in Saudi Arabia

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

Whole exome sequencing reveals mutations inNARS2andPARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome

(2014) Kalliopi Sofou et al.   Molecular Genetics & Genomic Medicine

Ciliary GenesTBC1D32/C6orf170andSCLT1are Mutated in Patients with OFD Type IX

(2013) Nouran Adly et al.   HUMAN MUTATION

Mutation inADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus

(2013) Anas M Alazami et al.   JOURNAL OF MEDICAL GENETICS

Rational drug repositioning by medical genetics

(2013) Zhong-Yi Wang et al.   NATURE BIOTECHNOLOGY

Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation: Figure 1

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

Autozygome decoded

(2010) Fowzan S. Alkuraya   GENETICS IN MEDICINE