Gabriele Richard

Overview

Best Publications

• Clinical application of whole-exome sequencing across clinical indications.

  Kyle Retterer;Jane Juusola;Megan T. Cho;Patrik Vitazka

  954
  Citations

• Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009

  Vinzenz Oji;Gianluca Tadini;Masashi Akiyama;Claudine Blanchet Bardon

  845
  Citations

• Gap Junctions: Basic Structure and Function

  Gülistan Meşe;Gabriele Richard;Thomas W. White

  609
  Citations

• Mutations in GALNT3 , encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

  Orit Topaz;Orit Topaz;Daniel L Shurman;Reuven Bergman;Reuven Bergman;Margarita Indelman

  599
  Citations

• An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

  Erin B. Kaminsky;Vineith Kaul;Justin Paschall;Deanna M. Church

  486
  Citations

• Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

  Gabriele Richard;Lisa E. Smith;Regina A. Bailey;Peter Itin

  452
  Citations

• Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome

  Gabriele Richard;Fatima Rouan;Colin E. Willoughby;Nkecha Brown

  436
  Citations

• Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

  Melissa A Kelly;Colleen Caleshu;Ana Morales;Jillian Buchan

  390
  Citations

• Familial pityriasis rubra pilaris is caused by mutations in CARD14

  Dana Fuchs-Telem;Dana Fuchs-Telem;Ofer Sarig;Maurice A.M. van Steensel;Ofer Isakov

  282
  Citations

• Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

  Nigel G Laing;Danielle E Dye;Carina Wallgren-Pettersson;Gabriele Richard

  258
  Citations

• Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders.

  Amanda S. Lindy;Mary Beth Stosser;Elizabeth Butler;Courtney Downtain‐Pickersgill

  246
  Citations

• Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin.

  Eli Sprecher;Reuven Bergman;Gabriele Richard;Raziel Lurie

  238
  Citations

• LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum.

  Akemi Ishida-Yamamoto;Céline Deraison;Chrystelle Bonnart;Emmanuelle Bitoun

  211
  Citations

• The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: Implications for mutation detection and first case of prenatal diagnosis

  Eli Sprecher;Shivan Amin;Karl Nielsen;Ellen Pfendner

  206
  Citations

• Connexin disorders of the skin.

  Gabriele Richard

  187
  Citations

• Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness

  Dwan A. Gerido;Adam M. DeRosa;Gabriele Richard;Thomas W. White

  183
  Citations

• Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix

  Eli Sprecher;Akemi Ishida-Yamamoto;Oren M Becker;Lyuben Marekov

  163
  Citations

• Genetic heterogeneity in erythrokeratodermia variabilis: Novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations

  Gabriele Richard;Nkecha Brown;Fatima Rouan;Jan Gerrit Van Der Schroeff

  160
  Citations

• High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.

  Mary Beth Stosser;Amanda S Lindy;Elizabeth Butler;Kyle Retterer

  152
  Citations

• Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia.

  Amy Y. Jan;Shivan Amin;Paulina Ratajczak;Gabriele Richard

  150
  Citations