G. Elgar

发表

Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome

A. Need, C. Tregidgo, P. Furió-Tarí, 2022, Scientific Reports.

Age Increases the Risk of Mortality by Four-Fold in Patients with Emergent Paralytic Ileus: Hospital Length of Stay, Sex, Frailty, and Time to Operation as Other Risk Factors

R. Latifi, Abbas Smiley, G. Elgar, 2022, International journal of environmental research and public health.

Pediatric Patients With Sickle Cell Disease at a Public Hospital: Nutrition, Compliance and Early Experience With L-Glutamine Therapy

Henry J. Lin, E. Panosyan, Joseph L. Lasky, 2022, In Vivo.

Major Risk Factors for Mortality in Elderly and Non-Elderly Adult Patients Emergently Admitted for Blunt Chest Wall Trauma: Hospital Length of Stay as an Independent Predictor

R. Latifi, Abbas Smiley, G. Elgar, 2022, International journal of environmental research and public health.

Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy

A. Need, C. Tregidgo, R. Weintraub, 2022, npj Genomic Medicine.

Carbamoyl phosphate synthetase (CPSase) in the PYR1-3 multigene of Dictyostelium discoideum.

J. Schofield, G. Elgar, 1992, DNA sequence : the journal of DNA sequencing and mapping.

Assessing the digenic model in rare disorders using population sequencing data

A. Need, C. Tregidgo, P. Furió-Tarí, 2022, European Journal of Human Genetics.

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

A. Need, C. Tregidgo, P. Furió-Tarí, 2020, Genetics in Medicine.

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

A. Need, A. Pagnamenta, M. Caulfield, 2020, Nature Communications.

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

A. Need, D. Smedley, C. Tregidgo, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome

A. Need, M. Kayikci, M. Caulfield, 2022, Scientific Reports.

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

A. Need, C. Tregidgo, J. Clayton-Smith, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.