Publications by authors named "Sarah Sheppard"

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Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies.
Luciana Daniela Garlisi Torales, Kristina Woodis, Allison Britt, Lea F Surrey, Abhay Srinivasan, Sarah E Sheppard

Am J Med Genet A· November 2025

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Expansion of the Phenotype of Lymphatic Anomalies Caused by Somatic Activating BRAF Variant.
Michael D Fox, Sumukh Kumar, Allison D Britt, Abhay S Srinivasan, Lea F Surrey, Sarah E Sheppard

Pediatr Blood Cancer· November 2025

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Visualizing Genetics: An Investigation of Dermoscopy as a Tool for Genetic Variant Prediction in Capillary Malformations.
Aretha On, Marie-Chantal Caussade, Allison Britt, Sarah E Sheppard, Denise Adams

Pediatr Dermatol· October 2025

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Unusual Presentation of Coronary Artery Fistula in Capillary Malformation Arteriovenous Malformation 2 Syndrome: A Case Report.
Tyson C Echols, Allison Britt, Seth E Vatsky, Sarah E Sheppard, Bryan A Pukenas

Am J Med Genet A· July 2025

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A Pilot Study to Evaluate Neurodevelopmental Outcomes in a Pediatric Cohort With Genodermatoses.
Sneha A Rangu, Kierstin Keller, Dong Li, Hope Thomas, Nora O'Connor, Sarah E Sheppard

Am J Med Genet A· July 2025

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A Retrospective Review of Oral N-Acetylcysteine for Habit-Driven Cutaneous Disorders.
Diana H Zarowin, Amy Buros Stein, Sarah E Sheppard, James R Treat

Pediatr Dermatol· May 2025

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Decentralising delivery of systemic anti-cancer therapy (SACT) with subcutaneous atezolizumab: service challenges, opportunities and case studies.
Elaine Tomlins, Helen Winter, Anna Olsson-Brown, Jenna Robinson, Sally Long, Sarah Sheppard

Br J Nurs· May 2025

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Decentralising delivery of systemic anti-cancer therapy (SACT) with subcutaneous atezolizumab: service challenges, opportunities and case studies.
Joseph Williams, Elaine Tomlins, Helen Winter, Anna Olsson-Brown, Jenna Robinson, Sarah Sheppard

Br J Nurs· May 2025

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Workforce Shortage of Pediatric Dermatologists: A Medical Student's Perspective.
Sneha A Rangu, Carolena E Steinberg, Diana H Zarowin, Sarah E Sheppard, Yvonne E Chiu

Cutis· May 2025

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Kaposiform Lymphangiomatosis as a Cause of Vaginal Bleeding & Discharge: A Case Report.
Kirsten Das, Sarah Sheppard, Bhupender Yadav, Joyce Tannenbaum Turner, Miriam Bornhorst

J Pediatr Adolesc Gynecol· December 2024

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Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders.
Fangyi Chen, Priyanka Ahimaz, Quan M Nguyen, Rachel Lewis, Wendy K Chung, Sarah E Sheppard

NPJ Digit Med· November 2024

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Central conducting lymphatic anomaly: from bench to bedside.
Luciana Daniela Garlisi Torales, Benjamin A Sempowski, Georgia L Krikorian, Kristina M Woodis, Scott M Paulissen, Sarah E Sheppard

J Clin Invest· April 2024

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The importance of patient-specific resources for families dealing with prenatal rare diseases.
Dhyanam P Shukla, Jennifer Ortiz Cutshall, Lex van der Heijden, Erica Schindewolf, Sarah E Sheppard

Am J Med Genet A· March 2024

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Updates in Genetic Testing for Head and Neck Vascular Anomalies.
Kristina M Woodis, Luciana Daniela Garlisi Torales, Alejandro Wolf, Allison Britt, Sarah E Sheppard

Oral Maxillofac Surg Clin North Am· February 2024

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Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.
Bede N Nriagu, Lydia S Williams, Niambi Brewer, Lea F Surrey, Abhay S Srinivasan, Sarah E Sheppard

Am J Med Genet A· January 2024

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Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Sarah E Sheppard

Nat Commun· July 2023

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Clinical decision support with a comprehensive in-EHR patient tracking system improves genetic testing follow up.
Ian M Campbell, Dean J Karavite, Morgan L Mcmanus, Fred C Cusick, David C Junod, Sarah E Sheppard

J Am Med Inform Assoc· June 2023

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Genomic profiling informs diagnoses and treatment in vascular anomalies.
Dong Li, Sarah E Sheppard, Michael E March, Mark R Battig, Lea F Surrey

Nat Med· June 2023

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Mosaic pathogenic variants in AKT3 cause capillary malformation and undergrowth.
Amber Bolli, Bede Nriagu, Allison D Britt, Anjali D Toole, James Treat, Sarah E Sheppard

Am J Med Genet A· May 2023

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Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition.
Sarah E Sheppard, Michael E March, Christoph Seiler, Leticia S Matsuoka, Sophia E Kim

JCI Insight· May 2023

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Pathogenic variants in PIK3CA are associated with clinical phenotypes of kaposiform lymphangiomatosis, generalized lymphatic anomaly, and central conducting lymphatic anomaly.
Jeremy M Grenier, Alexandra J Borst, Sarah E Sheppard, Kristen M Snyder, Dong Li

Pediatr Blood Cancer· May 2023

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Segmental vasoconstricted patches with a border of telangiectasia.
Diana Zarowin, Warren R Heymann, Albert C Yan, James Treat, Sarah E Sheppard

Pediatr Dermatol· May 2023

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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson

Sci Adv· March 2023

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A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, Hanka Venselaar, A Micheil Innes, Sarah E Sheppard

HGG Adv· January 2023

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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Sayaka Kayumi, Luis A Pérez-Jurado, María Palomares, Sneha Rangu, Sarah E Sheppard

Genet Med· November 2022

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