Publications by authors named "David A Stevenson"

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Langerhans Cell Histiocytosis in Cardiofaciocutaneous Syndrome.
Laura Keehan, Richard Sleightholm, Lianna J Marks, David A Stevenson, Annie D Niehaus

Am J Med Genet A· November 2025

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Medical genetics and genomics residency programs: Trends in applications, match rates, and matriculation from 2015 to 2024.
Annie D Niehaus, David A Stevenson, Miriam G Blitzer

Genet Med· November 2025

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The American Federation for Medical Research maintains commitment to decades of support of vaccine and vaccination research to improve public health.
Zanthia Wiley, Sidharth Mahapatra, Gaurav Agarwal, Stephanie Baer, Syed Bukhari, David A Stevenson

J Investig Med· April 2025

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Characterizing and Evaluating the Structures of Combined Pediatrics and Medical Genetics and Genomics Residency Programs.
Annie D Niehaus, David A Stevenson

Am J Med Genet A· March 2025

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-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Laura Cif, Diane Demailly, Jean-Pierre Lin, Katy E Barwick, Mario Sa, David A Stevenson

ArXiv· February 2025

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Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Keng Ioi Vong, Sangmoon Lee, Kit Sing Au, T Blaine Crowley, Valeria Capra, David A Stevenson, Roger E Stevenson

Science· May 2024

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Time to diagnosis in rapid exome/genome sequencing in the clinical inpatient setting.
Alison Schildt, David A Stevenson, Linbo Yu, Beatriz Anguiano, Carlos J Suarez

Am J Med Genet A· April 2024

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Potential endpoints for assessment of bone health in persons with neurofibromatosis type 1.
Andrea M Gross, Scott R Plotkin, Nelson B Watts, Michael J Fisher, Laura J Klesse, David A Stevenson

Clin Trials· February 2024

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Two epilepsy-associated variants in KCNA2 (K 1.2) at position H310 oppositely affect channel functional expression.
Teresa Mínguez-Viñas, Varsha Prakash, Kaiqian Wang, Sarah H Lindström, Serena Pozzi, David A Stevenson

J Physiol· December 2023

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Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome.
Ryan W Gates, Bryn D Webb, David A Stevenson, Ethylin Wang Jabs, Colette DeFilippo

Am J Med Genet A· November 2023

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Papillomas of Costello syndrome are not associated with human papillomavirus infection in a small case series.
Gerilyn M Olsen, Luke Johnson, Pau Castel, David A Stevenson, Kevin White

J Am Acad Dermatol· August 2023

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Frequency of epistaxis and telangiectasia in patients with hereditary hemorrhagic telangiectasia (HHT) in comparison with the general population: Curaçao diagnostic criteria revisited.
Jamie McDonald, Jenna Kornish, David A Stevenson, Andrea Hanson-Kahn, Heather Balch

Genet Med· August 2023

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Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Monica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, Tugce B Balci, Bert Callewaert, David A Stevenson

Am J Med Genet A· July 2023

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Single Versus Multigene Testing for Hereditary Hearing Loss: Use and Costs in a Commercially Insured Cohort.
Peter K Moon, Z Jason Qian, David A Stevenson, Kay W Chang

Otolaryngol Head Neck Surg· June 2023

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Bone health in RASopathies.
David A Stevenson, Germana Viscogliosi, Chiara Leoni

Am J Med Genet C Semin Med Genet· December 2022

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MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensus.
Peter M K de Blank, Andrea M Gross, Srivandana Akshintala, Jaishri O Blakeley, Gideon Bollag, David A Stevenson

Neuro Oncol· November 2022

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Factors associated with the time to complete clinical exome sequencing in a pediatric patient population.
Gabriella Lee, Linbo Yu, Carlos J Suarez, David A Stevenson, Albee Ling

Genet Med· October 2022

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Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
Scott R Plotkin, Ludwine Messiaen, Eric Legius, Patrice Pancza, Robert A Avery, David A Stevenson

Genet Med· September 2022

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Evaluation of the impact of the 2021 revised Neurofibromatosis type 1 diagnostic criteria on time to diagnosis.
Wesley Y Ho, Ellyn Farrelly, David A Stevenson

Am J Med Genet A· September 2022

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A survey of program directors for combined pediatrics and medical genetics and genomics residency programs: Perspectives when evaluating applicants.
Annie D Niehaus, Caroline E Rassbach, David A Stevenson

Am J Med Genet A· August 2022

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50 Years Ago in TheJournalofPediatrics: Advances in the Understanding of Prader-Willi syndrome.
Diane E J Stafford, David A Stevenson

J Pediatr· August 2022

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The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery.
Maria I Kontaridis, Amy E Roberts, Lisa Schill, Lisa Schoyer, Beth Stronach, David A Stevenson

Am J Med Genet A· June 2022

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Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.
Claire Forde, Emma Burkitt-Wright, Peter D Turnpenny, Eric Haan, John Ealing, David A Stevenson

Eur J Hum Genet· March 2022

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Response to Hamosh et al.
Leslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, Anne R Amemiya, Michael J Bamshad, David A Stevenson

Am J Hum Genet· September 2021

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