Sherri J. Bale

Sherri J. Bale publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Sherri J. Bale sits on this spectrum.

Sherri J. Bale D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Sherri J. Bale sits on this spectrum.

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