C. Samarghitean

发表

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

William J. Astle, Dorothy A. Thompson, Sri V. V. Deevi, 2018, American journal of human genetics.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

1 Whole genome sequencing of a sporadic primary immunodeficiency cohort 2

Lynch, Gilmour, Sri V. V. Deevi, 2020 .

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, The Journal of allergy and clinical immunology.

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

Crina Samarghitean, Vera Matser, Scott Hackett, 2018, The Journal of allergy and clinical immunology.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

Primary Immunodeficiency Information Knowledge Services

C. Samarghitean, Crina Samarghitean, 2012 .

Systematic Classification of Primary Immunodeficiencies Based on Clinical, Pathological, and Laboratory Parameters1

M. Vihinen, C. Ortutay, C. Samarghitean, 2009, The Journal of Immunology.

This information is current as Pathological , and Laboratory Parameters Immunodeficiencies Based on Clinical , Systematic Classification of Primary

M. Vihinen, C. Ortutay, C. Samarghitean, 2009 .

Bioinformatics services related to diagnosis of primary immunodeficiencies

Mauno Vihinen, Crina Samarghitean, M. Vihinen, 2009, Current opinion in allergy and clinical immunology.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Whole Genome Sequencing of Primary Immunodeficiency reveals a role for common and rare variants in coding and non-coding sequences

Sri V. V. Deevi, Kenneth G. C. Smith, Nicholas S. Gleadall, 2018, bioRxiv.

Whole-genome sequencing of patients with rare diseases in a national health system

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Online Registry of Genetic and Clinical Immunodeficiency Diagnostic Laboratories, IDdiagnostics

M. Vihinen, J. Väliaho, C. Samarghitean, 2004, Journal of Clinical Immunology.

IDR knowledge base for primary immunodeficiencies

Mauno Vihinen, Crina Samarghitean, Jouni Väliaho, 2007, Immunome research.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Fengyuan Hu, Kevin Rue-Albrecht, Patrick Deegan, 2017, Circulation.

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Dorothy A. Thompson, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, American journal of human genetics.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Andy G Lynch, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, Scientific Reports.

Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2023, Journal of Clinical Immunology.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Sri V. V. Deevi, Eleanor F. Dewhurst, Courtney E. French, 2017, Scientific Reports.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, Circulation.

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, American journal of human genetics.