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Iris Schrijver | Researchclopedia

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Iris Schrijver

129

Works

5,348

Citations

38

h-index

85

i10-index

Research Topics

Hearing, Cochlea, Tinnitus, Genetics Cystic Fibrosis Research Advances Genomics and Rare Diseases

Affiliations

Cedars-Sinai Medical Center2002–2002

Centers for Disease Control and Prevention2013–2013

Georgia Institute of Technology2013–2013

Deaconess Hospital2014–2014

Lucile Packard Children's Hospital2006–2007

Top Works

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

Rikkert L. Snoeckx,P.L.M. Huygen,et al.

2005551 citations

Connexins and lens biology

Cancer Genomics and Diagnostics

College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests

Nazneen Aziz,Qin Zhao,et al.

2014398 citations

Cysteine Substitutions in Epidermal Growth Factor–Like Domains of Fibrillin-1: Distinct Effects on Biochemical and Clinical Phenotypes

Iris Schrijver,Wei Liu,et al.

1999228 citations

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort

Girish Putcha,Bassem A. Bejjani,et al.

2007167 citations

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

Belinda Giardine,Joseph Borg,et al.

2011160 citations

Premature Termination Mutations in FBN1: Distinct Effects on Differential Allelic Expression and on Protein and Clinical Phenotypes

Iris Schrijver,Wanguo Liu,et al.

2002159 citations

Opportunities and Challenges Associated with Clinical Diagnostic Genome Sequencing

Iris Schrijver,Nazneen Aziz,et al.

2012150 citations

Profound functional and signaling changes in viable inflammatory neutrophils homing to cystic fibrosis airways

Rabindra Tirouvanziam,Yaël Gernez,et al.

2008146 citations

Next-generation sequencing of acute myeloid leukemia identifies the significance of TP53, U2AF1, ASXL1, and TET2 mutations

Robert S. Ohgami,Lisa Ma,et al.

2014143 citations