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GIBBS, RICHARD

One or more keywords matched the following items that are connected to GIBBS, RICHARD

Item Type	Name
Academic Article	Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation.
Academic Article	Large scale variation in Enterococcus faecalis illustrated by the genome analysis of strain OG1RF.
Academic Article	Mutation survey of known LCA genes and loci in the Saudi Arabian population.
Concept	Membrane Proteins
Academic Article	Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene.
Academic Article	The genetic basis of DOORS syndrome: an exome-sequencing study.
Academic Article	Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder.
Academic Article	Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.
Academic Article	Sequence variation in TMEM18 in association with body mass index: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study.
Academic Article	Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.
Academic Article	Inactivating mutations in NPC1L1 and protection from coronary heart disease.
Academic Article	Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing.
Academic Article	Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.
Academic Article	Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
Academic Article	Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.
Academic Article	Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.
Academic Article	Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
Academic Article	Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.
Academic Article	Whole exome sequencing in the Framingham Heart Study identifies rare variation in HYAL2 that influences platelet aggregation.
Academic Article	Lessons learned from additional research analyses of unsolved clinical exome cases.
Academic Article	Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children.
Academic Article	Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.
Academic Article	Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder.
Academic Article	HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease.
Academic Article	Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability.
Academic Article	Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant.
Academic Article	Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.
Academic Article	Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.

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Membrane Proteins