Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing-Reference-Cited by-同舟云学术

Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing

Published:2017-03 Issue: Volume:182 Page:371-374.e2
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Theunissen Tom E.J.,Sallevelt Suzanne C.E.H.,Hellebrekers Debby M.E.I.,de Koning Bart,Hendrickx Alexandra T.M.,van den Bosch Bianca J.C.,Kamps Rick,Schoonderwoerd Kees,Szklarczyk Radek,Mulder-Den Hartog Elvira N.M.,de Coo Irenaeus F.M.,Smeets Hubert J.M.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference12 articles.

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4. Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity;Oh;Am J Hum Genet,1998

5. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1;Sarig;Am J Med Genet A,2013

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1. Case Report: Identification of Polygenic Mutations by Exome Sequencing;Frontiers in Pediatrics;2021-10-21

2. The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy;Annals of Neurology;2020-03-16

3. Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report;BMC Pulmonary Medicine;2019-10-16

4. Atypical cerebral palsy: genomics analysis enables precision medicine;Genetics in Medicine;2019-07

5. Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting;The American Journal of Human Genetics;2019-02