Sherri J. Bale

Overview

Best Publications

• Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

  Sue Richards;Nazneen Aziz;Nazneen Aziz;Sherri Bale;David Bick

  34490
  Citations

• Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

  Colin N A Palmer;Alan D Irvine;Ana Terron-Kwiatkowski;Yiwei Zhao

  3698
  Citations

• Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): A policy statement of the American College of Medical Genetics and Genomics

  Sarah S. Kalia;Kathy Adelman;Sherri J. Bale;Wendy K. Chung

  2006
  Citations

• Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

  Frances J D Smith;Alan D Irvine;Ana Terron-Kwiatkowski;Aileen Sandilands

  1296
  Citations

• Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.

  V. E. Kimonis;A. M. Goldstein;B. Pastakia;M. L. Yang

  1181
  Citations

• ACMG clinical laboratory standards for next-generation sequencing.

  Heidi L. Rehm;Sherri J. Bale;Pinar Bayrak-Toydemir;Jonathan S. Berg

  1007
  Citations

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

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

  954
  Citations

• ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

  C Sue Richards;Sherri Bale;Daniel B Bellissimo;Soma Das

  866
  Citations

• Re-evaluation of the linkage relationship between chromosome 11p loci and the gene for bipolar affective disorder in the old order amish

  John R. Kelsoe;Edward I. Ginns;Janice A. Egeland;Daniela S. Gerhard

  574
  Citations

• Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9.

  Mae R. Gailani;Sherri J. Bale;David J. Leffell;John J. DiGiovanna

  524
  Citations

• Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

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

  452
  Citations

• Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis

  Laura J. Russell;John J. DiGiovanna;Geraldine R. Rogers;Peter M. Steinert

  443
  Citations

• Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).

  David T. Miller;Kristy Lee;Wendy K. Chung;Adam S. Gordon

  438
  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

• Mapping the gene for hereditary cutaneous malignant melanoma-dysplastic nevus to chromosome 1p

  Sherri J. Bale;Nicholas C. Dracopoli;Margaret A. Tucker;Wallace H. Clark

  431
  Citations

• A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis.

  Constantin C. Chipev;Bernhard P. Korge;Nedialka Markova;Sherri J. Bale

  389
  Citations

• Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.

  Gabriela Richard;Thomas W. White;Lisa E. Smith;Regina A. Bailey

  330
  Citations

• Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.

  Jeffrey E. Ming;Michelle E. Kaupas;Erich Roessler;Han G. Brunner

  300
  Citations

• Loss of alleles from the distal short arm of chromosome 1 occurs late in melanoma tumor progression

  Nicholas C. Dracopoli;Paul Harnett;Sherri J. Bale;Ben Z. Stanger

  289
  Citations

• Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

  Lisa R. Susswein;Megan L. Marshall;Rachel Nusbaum;Kristen J. Vogel Postula

  286
  Citations