Sherri J. Bale

51.8k total citations · 7 hit papers
142 papers, 29.9k citations indexed

About

Sherri J. Bale is a scholar working on Molecular Biology, Genetics and Cell Biology. According to data from OpenAlex, Sherri J. Bale has authored 142 papers receiving a total of 29.9k indexed citations (citations by other indexed papers that have themselves been cited), including 79 papers in Molecular Biology, 54 papers in Genetics and 46 papers in Cell Biology. Recurrent topics in Sherri J. Bale's work include Skin and Cellular Biology Research (38 papers), Hedgehog Signaling Pathway Studies (26 papers) and Genomics and Rare Diseases (15 papers). Sherri J. Bale is often cited by papers focused on Skin and Cellular Biology Research (38 papers), Hedgehog Signaling Pathway Studies (26 papers) and Genomics and Rare Diseases (15 papers). Sherri J. Bale collaborates with scholars based in United States, Canada and United Kingdom. Sherri J. Bale's co-authors include Madhuri Hegde, Elaine Lyon, Soma Das, Wayne W. Grody, Heidi L. Rehm, Sue Richards, Julie M. Gastier‐Foster, Karl V. Voelkerding, Elaine Spector and David Bick and has published in prestigious journals such as Nature, New England Journal of Medicine and Cell.

In The Last Decade

Sherri J. Bale

141 papers receiving 29.4k citations

Hit Papers

align trajectories sort by overperformance

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

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

2015 18.9k citations Sue Richards, Nazneen Aziz et al. Genetics in Medicine profile →
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

2016 1.0k citations Sarah S. Kalia, Sherri J. Bale et al. Genetics in Medicine profile →
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

2006 681 citations Sherri J. Bale, John G. Compton et al. Nature Genetics profile →
Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome

1997 646 citations Virginia Kimonis, John J. DiGiovanna et al. profile →
ACMG clinical laboratory standards for next-generation sequencing

2013 631 citations Heidi L. Rehm, Sherri J. Bale et al. Genetics in Medicine profile →
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

2008 569 citations C. Sue Richards, Sherri J. Bale et al. Genetics in Medicine profile →
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)

2021 302 citations David T. Miller, Kristy Lee et al. Genetics in Medicine profile →

Peers — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name	h						Papers	Cites
Sherri J. Bale United States	52	14.7k	12.9k	3.2k	2.9k	2.7k	142	29.9k
Wayne W. Grody United States	45	11.9k 0.8×	12.1k 0.9×	1.2k 0.4×	3.1k 1.1×	2.5k 0.9×	168	28.7k
Soma Das United States	47	12.7k 0.9×	10.5k 0.8×	1.3k 0.4×	2.3k 0.8×	2.0k 0.7×	158	26.5k
Karl V. Voelkerding United States	32	11.2k 0.8×	9.8k 0.8×	1.1k 0.3×	2.6k 0.9×	1.9k 0.7×	86	23.1k
Elaine Lyon United States	30	10.9k 0.7×	10.3k 0.8×	1.1k 0.3×	2.3k 0.8×	2.0k 0.7×	102	23.2k
Heidi L. Rehm United States	53	13.8k 0.9×	14.5k 1.1×	1.3k 0.4×	3.4k 1.2×	2.4k 0.9×	186	31.4k
Madhuri Hegde United States	35	11.5k 0.8×	10.7k 0.8×	1.2k 0.4×	2.6k 0.9×	2.2k 0.8×	138	23.8k
Sue Richards United Kingdom	33	9.6k 0.7×	8.7k 0.7×	1.0k 0.3×	1.8k 0.6×	2.2k 0.8×	85	22.4k
Elaine Spector United States	26	10.1k 0.7×	9.0k 0.7×	1.2k 0.4×	1.7k 0.6×	1.5k 0.6×	71	20.6k
David Bick United States	31	10.4k 0.7×	10.3k 0.8×	1.1k 0.4×	1.8k 0.6×	1.6k 0.6×	83	22.0k
Julie M. Gastier‐Foster United States	36	10.4k 0.7×	9.0k 0.7×	1.1k 0.4×	2.2k 0.8×	2.0k 0.7×	122	22.8k

Countries citing papers authored by Sherri J. Bale

Since Specialization

Citations

This map shows the geographic impact of Sherri J. Bale's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Sherri J. Bale with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Sherri J. Bale more than expected).

Fields of papers citing papers by Sherri J. Bale

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Sherri J. Bale. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Sherri J. Bale. The network helps show where Sherri J. Bale may publish in the future.

Co-authorship network of co-authors of Sherri J. Bale

This figure shows the co-authorship network connecting the top 25 collaborators of Sherri J. Bale. A scholar is included among the top collaborators of Sherri J. Bale based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Sherri J. Bale. Sherri J. Bale is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

Miller, David T., Kristy Lee, Allan Gordon, et al.. (2021). Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine. 23(8). 1391–1398. 142 indexed citations

Harrison, Steven M., Jill S. Dolinsky, Amy E. Knight Johnson, et al.. (2017). Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar. Genetics in Medicine. 19(10). 1096–1104. 145 indexed citations

Kalia, Sarah S., Sherri J. Bale, Wendy K. Chung, et al.. (2016). 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. Genetics in Medicine. 19(2). 249–255. 1023 indexed citations breakdown →

Garber, Kathryn B., Lisa M. Vincent, John Alexander, et al.. (2016). Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine. The American Journal of Human Genetics. 99(5). 1140–1149. 35 indexed citations

Millan, Francisca, Megan T. Cho, Kyle Retterer, et al.. (2016). Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder. American Journal of Medical Genetics Part A. 170(7). 1791–1798. 42 indexed citations

Hegde, Madhuri, Sherri J. Bale, Pınar Bayrak‐Toydemir, et al.. (2015). Reporting Incidental Findings in Genomic Scale Clinical Sequencing—A Clinical Laboratory Perspective. Journal of Molecular Diagnostics. 17(2). 107–117. 44 indexed citations

Richards, Sue, Nazneen Aziz, Sherri J. Bale, et al.. (2015). 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. Genetics in Medicine. 17(5). 405–424. 18892 indexed citations breakdown →

Lieve, Krystien V.V., Amy Daly, Gabriele Richard, et al.. (2013). Results of Genetic Testing in 855 Consecutive Unrelated Patients Referred for Long QT Syndrome in a Clinical Laboratory. Genetic Testing and Molecular Biomarkers. 17(7). 553–561. 31 indexed citations

Bartels, Cynthia F., et al.. (2010). Mutations in the CHD7 Gene: The Experience of a Commercial Laboratory. Genetic Testing and Molecular Biomarkers. 14(6). 881–891. 38 indexed citations

10.

Pearson, Toni S., Ayman Al‐Eyadhy, Salem Al‐Tamemi, et al.. (2008). An intronic mutation in DKC1 in an infant with Høyeraal–Hreidarsson syndrome. American Journal of Medical Genetics Part A. 146A(16). 2159–2161. 14 indexed citations

11.

Kimonis, Virginia, Sarju Mehta, John J. DiGiovanna, Sherri J. Bale, & Behram Pastakia. (2004). Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome. Genetics in Medicine. 6(6). 495–502. 131 indexed citations

12.

Ming, Jeffrey E., Erich Roessler, Han G. Brunner, et al.. (2002). Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Human Genetics. 110(4). 297–301. 174 indexed citations

13.

Bale, Sherri J.. (2001). The morbid anatomy of the dermatologic genome: An update for the third millennium. Journal of Cutaneous Medicine and Surgery. 5(2). 117–125. 3 indexed citations

14.

Bale, Sherri J.. (1999). Recent Advances in Gene Mapping of Skin Diseases: Pseudoxanthoma Elasticum: A Satisfying Sibling Study. Journal of Cutaneous Medicine and Surgery. 3(3). 154–156. 4 indexed citations

15.

Darling, Thomas N., Sherri J. Bale, John G. Compton, et al.. (1998). A Deletion Mutation in COL17A1 in Five Austrian Families with Generalized Atrophic Benign Epidermolysis Bullosa Represents Propagation of an Ancestral Allele. Journal of Investigative Dermatology. 110(2). 170–173. 11 indexed citations

16.

Richard, Gabriela, et al.. (1998). Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Human Genetics. 103(4). 393–399. 217 indexed citations

17.

Bale, Sherri J.. (1996). When Genetics Gets under Your Skin. Journal of Cutaneous Medicine and Surgery. 1(2). 97–100. 4 indexed citations

18.

Richard, Gabriela, Vincenzo De Laurenzi, Biagio Didona, Sherri J. Bale, & John G. Compton. (1995). Keratin 13 point mutation underlies the hereditary mucosal epithelia disorder white sponge nevus. Nature Genetics. 11(4). 453–455. 87 indexed citations

19.

Bale, A., et al.. (1989). Sister chromatid exchange and chromosome fragility in the nevoid basal cell carcinoma syndrome. Cancer Genetics and Cytogenetics. 42(2). 273–279. 22 indexed citations

20.

Spence, M. Anne, R S Sparkes, Dilys M. Parry, et al.. (1987). Genetic linkage studies with neurofibromatosis: the question of heterogeneity.. Journal of Medical Genetics. 24(9). 527–529. 3 indexed citations

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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