[HTML][HTML] The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next …
PD Stenson, M Mort, EV Ball, K Evans, M Hayden… - Human genetics, 2017 - Springer
Abstract The Human Gene Mutation Database (HGMD®) constitutes a comprehensive
collection of published germline mutations in nuclear genes that underlie, or are closely …
collection of published germline mutations in nuclear genes that underlie, or are closely …
Exome and genome sequencing for inborn errors of immunity
The advent of next-generation sequencing (NGS) in 2010 has transformed medicine,
particularly the growing field of inborn errors of immunity. NGS has facilitated the discovery …
particularly the growing field of inborn errors of immunity. NGS has facilitated the discovery …
Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children
Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that
follows benign COVID-19. We report autosomal recessive deficiencies of OAS1, OAS2, or …
follows benign COVID-19. We report autosomal recessive deficiencies of OAS1, OAS2, or …
Human IL-23 is essential for IFN-γ–dependent immunity to mycobacteria
Patients with autosomal recessive (AR) IL-12p40 or IL-12Rβ1 deficiency display Mendelian
susceptibility to mycobacterial disease (MSMD) due to impaired IFN-γ production and, less …
susceptibility to mycobacterial disease (MSMD) due to impaired IFN-γ production and, less …
[HTML][HTML] Analysis of protein-coding genetic variation in 60,706 humans
Large-scale reference data sets of human genetic variation are critical for the medical and
functional interpretation of DNA sequence changes. Here we describe the aggregation and …
functional interpretation of DNA sequence changes. Here we describe the aggregation and …
[HTML][HTML] Deep structured learning for variant prioritization in Mendelian diseases
Effective computer-aided or automated variant evaluations for monogenic diseases will
expedite clinical diagnostic and research efforts of known and novel disease-causing genes …
expedite clinical diagnostic and research efforts of known and novel disease-causing genes …
[HTML][HTML] Human T-bet governs innate and innate-like adaptive IFN-γ immunity against mycobacteria
Inborn errors of human interferon gamma (IFN-γ) immunity underlie mycobacterial disease.
We report a patient with mycobacterial disease due to inherited deficiency of the …
We report a patient with mycobacterial disease due to inherited deficiency of the …
Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines
Vaccination against measles, mumps, and rubella (MMR) and yellow fever (YF) with live
attenuated viruses can rarely cause life-threatening disease. Severe illness by MMR …
attenuated viruses can rarely cause life-threatening disease. Severe illness by MMR …
The mutation significance cutoff: gene-level thresholds for variant predictions
Next-generation sequencing (NGS) identifies about 20,000 variants per exome, of which
only a few may underlie genetic diseases. Variant-level methods such as PolyPhen-2 …
only a few may underlie genetic diseases. Variant-level methods such as PolyPhen-2 …
Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency
N Hernandez, I Melki, H Jing, T Habib… - Journal of Experimental …, 2018 - rupress.org
Life-threatening pulmonary influenza can be caused by inborn errors of type I and III IFN
immunity. We report a 5-yr-old child with severe pulmonary influenza at 2 yr. She is …
immunity. We report a 5-yr-old child with severe pulmonary influenza at 2 yr. She is …