Sarah E. Sheppard

Also affiliated with Eunice Kennedy Shriver National Institute of Child Health and Human Development

MedicineBiochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 27 papers. Top paper: “Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome”.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62124

N/A

0.644DataRank · unranked

72 citations

Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson +95 more

Genomic profiling informs diagnoses and treatment in vascular anomalies

Nature Medicine(2023)10.1038/s41591-023-02364-x

N/A

0.628DataRank · unranked

65 citations

Sarah E. Sheppard, Michael March, Mark R. Battig, Lea F. Surrey, Abhay Srinivasan +37 more

Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition

JCI Insight(2023)10.1172/jci.insight.155888

N/A

0.550DataRank · unranked

38 citations

Michael March, Christoph Seiler, Leticia S. Matsuoka, S Kim, Charlly Kao +28 more

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.03.009

N/A

0.515DataRank · unranked

30 citations

Jennifer L. Cohen, Sarah E. Sheppard, Pavithran Guttipatti, Tsz Y. Lo, Natalie Weed +14 more

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

Nature Communications(2023)10.1038/s41467-023-39645-5

N/A

0.477DataRank · unranked

23 citations

Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul‐Hwan Lee +95 more

Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders

npj Digital Medicine(2024)10.1038/s41746-024-01331-1

N/A

0.373DataRank · unranked

11 citations

Priyanka Ahimaz, Quan M. Nguyen, Rachel Lewis, Wendy K. Chung, Casey Ta +7 more

Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63385

N/A

0.312DataRank · unranked

7 citations

Lydia S. Williams, Niambi Brewer, Lea F. Surrey, Abhay Srinivasan, Dong Li +14 more

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome

Molecular Genetics and Metabolism(2021)10.1016/s1096-7192(21)00373-5

N/A

0.104DataRank · unranked

1 citations

Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson +95 more

The importance of patient‐specific resources for families dealing with prenatal rare diseases

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63450

N/A

0DataRank · unranked

2 citations

Jennifer Ortiz Cutshall, Lex van der Heijden, Erica Schindewolf, Sarah E. Sheppard, Dhyanam P. Shukla

Segmental vasoconstricted patches with a border of telangiectasia

Pediatric Dermatology(2023)10.1111/pde.15227

N/A

0DataRank · unranked

1 citations

Warren R. Heymann, Albert C. Yan, James R. Treat, Sarah E. Sheppard, Diana Zarowin

Central conducting lymphatic anomaly: from bench to bedside

Journal of Clinical Investigation(2024)10.1172/jci172839

N/A

0DataRank · unranked

22 citations

Benjamin A Sempowski, Georgia L. Krikorian, Kristina M. Woodis, Scott M. Paulissen, Christopher L. Smith +2 more

Kaposiform Lymphangiomatosis as a Cause of Vaginal Bleeding & Discharge: A Case Report

Journal of Pediatric and Adolescent Gynecology(2024)10.1016/j.jpag.2024.06.005

N/A

0DataRank · unranked

0 citations

Sarah E. Sheppard, Bhupender Yadav, Joyce Turner, Miriam Bornhorst, Alan Siegel +3 more

Unusual Presentation of Coronary Artery Fistula in Capillary Malformation Arteriovenous Malformation 2 Syndrome: A Case Report

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64041

N/A

0DataRank · unranked

3 citations

Allison Britt, Seth Vatsky, Sarah E. Sheppard, Bryan Pukenas, Alexandra J. Borst +1 more

A Retrospective Review of Oral N‐Acetylcysteine for Habit‐Driven Cutaneous Disorders

Pediatric Dermatology(2025)10.1111/pde.15852

N/A

0DataRank · unranked

2 citations

Joshua Epstein, Sarah E. Sheppard, James R. Treat, Diana Zarowin

Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64126

N/A

0DataRank · unranked

1 citations

Kristina Woodis, Allison Britt, Lea F. Surrey, Abhay Srinivasan, Arupa Ganguly +6 more

Expansion of the Phenotype of Lymphatic Anomalies Caused by Somatic Activating BRAF Variant

Pediatric Blood & Cancer(2025)10.1002/pbc.32015

N/A

0DataRank · unranked

1 citations

Sumukh Kumar, Allison Britt, Abhay Srinivasan, Lea F. Surrey, Seth Vatsky +7 more

A Pilot Study to Evaluate Neurodevelopmental Outcomes in a Pediatric Cohort With Genodermatoses

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.63989

N/A

0DataRank · unranked

0 citations

Kierstin Keller, Dong Li, Hope Thomas, Nora O’Connor, Abbas F. Jawad +6 more

Somatic Genetic Testing Provides Diagnosis of Verrucous Venous Malformation in an Individual with Discrepant Radiology, Pathology, and Clinical Findings

Journal of Vascular Anomalies(2025)10.1097/jova.0000000000000120

N/A

0DataRank · unranked

0 citations

Amber Bolli, James R. Treat, Anne Marie Cahill, Denise M. Adams, Arupa Ganguly +5 more

Kaposiform lymphangiomatosis effectively treated with MEK inhibition

EMBO Molecular Medicine(2020)10.15252/emmm.202012324

N/A

0DataRank · unranked

104 citations

Dong Li, Michael March, Sarah E. Sheppard, Denise M. Adams, Håkon Håkonarson +2 more

Visualizing Genetics: An Investigation of Dermoscopy as a Tool for Genetic Variant Prediction in Capillary Malformations

Pediatric Dermatology(2025)10.1111/pde.70036

N/A

0DataRank · unranked

0 citations

Marie‐Chantal Caussade, Allison Britt, Sarah E. Sheppard, Denise M. Adams, Griffin Stockton Hogrogian +2 more

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

Genetics in Medicine(2021)10.1038/s41436-021-01212-y

N/A

0DataRank · unranked

17 citations

Najim Lahrouchi, Fernanda M. Bosada, Gregor Dombrowsky, Simon G. Williams, Robert Lesurf +49 more

Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization

Scientific Reports(2021)10.1038/s41598-021-98752-9

N/A

0DataRank · unranked

9 citations

Ian M. Campbell, Sarah E. Sheppard, Wen‐Hann Tan, Nina B. Gold

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

Genetics in Medicine(2021)10.1016/j.gim.2021.10.014

N/A

0DataRank · unranked

4 citations

Siying Lin, Promita Ghosh, Francesca Clementina Radio, Emily Farrow, Isabelle Thiffault +35 more

Gain and loss of function variants in EZH1 disrupt neurogenesis timing and cause overlapping neurodevelopmental disorders

medRxiv(2022)10.1101/2022.08.09.22278430

N/A

0DataRank · unranked

1 citations

Yijing Zhou, Qian Yang, Chul‐Hwan Lee, Paula Espana-Bonilla, Shuo Zhang +48 more

Pathogenic variants inPIK3CAare associated with clinical phenotypes of kaposiform lymphangiomatosis, generalized lymphatic anomaly, and central conducting lymphatic anomaly

Pediatric Blood & Cancer(2023)10.1002/pbc.30419

N/A

0DataRank · unranked

19 citations

Alexandra J. Borst, Sarah E. Sheppard, Kristen Snyder, Dong Li, Lea F. Surrey +10 more

Mosaic pathogenic variants in AKT3 cause capillary malformation and undergrowth

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63121

N/A

0DataRank · unranked

5 citations

Bede N. Nriagu, Allison Britt, Anjali D. Toole, James R. Treat, Abhay Srinivasan +2 more

Updates in Genetic Testing for Head and Neck Vascular Anomalies

Oral and Maxillofacial Surgery Clinics of North America(2023)10.1016/j.coms.2023.09.001

N/A

0DataRank · unranked

1 citations

Luciana Daniela Garlisi Torales, Alejandro Wolf, Allison Britt, Sarah E. Sheppard, Kristina M. Woodis