Kim M Keppler-Noreuil

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 8

Top Topics

Magnetic Resonance

Inferior Vena Cava

Cell Proliferation

Top Venues

American journal of medical genetics. Part A

American journal of medical genetics. Part C, Seminars in medical genetics

Clinical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Linda M Reis, David J Amor, Raad A Haddad, Catherine B Nowak, Kim M Keppler-Noreuil, Smith Ann Chisholm, Elena V Semina
Alternative Genetic Diagnoses in Axenfeld-Rieger Syndrome Spectrum. Genes 14 (10) (2023)
Sofia Douzgou Houge, Myfanwy Rawson, Eulalia Baselga, Moise Danielpour, Laurence Faivre, Alon Kashanian, Kim M Keppler-Noreuil, Paul Kuentz, Grazia Maria Simonetta Mancini, Marie-Cecile Maniere, Victor Martínez-González, Victoria E Parker, Robert K Semple, Siddharth Srivastava, Pierre Vabres, Marie-Claire Y De Wit, John M Graham, Jill Clayton-Smith, Ghayda M Mirzaa, Barbara B Biesecker
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement. Clinical genetics 101 (1) (2021)
Kim M Keppler-Noreuil, Jay Lozier, Neal Oden, Anjali Taneja, Jasmine Burton-Akright, Julie C Sapp, Barbara B Biesecker
Thrombosis risk factors in PIK3CA-related overgrowth spectrum and Proteus syndrome. American journal of medical genetics. Part C, Seminars in medical genetics 181 (4) (2019)
Julie C Sapp, Anna Buser, Jasmine Burton-Akright, Kim M Keppler-Noreuil, Barbara B Biesecker
A dyadic genotype-phenotype approach to diagnostic criteria for Proteus syndrome. American journal of medical genetics. Part C, Seminars in medical genetics 181 (4) (2019)
Varun Takyar, Divya Khattar, Alexander Ling, Rachna Patel, Julie C Sapp, Sun A Kim, Sungyoung Auh, Barbara B Biesecker, Kim M Keppler-Noreuil, Theo Heller
Characterization of the hepatosplenic and portal venous findings in patients with Proteus syndrome. American journal of medical genetics. Part A 176 (12) (2018)
Kim M Keppler-Noreuil, Jay N Lozier, Julie C Sapp, Barbara B Biesecker
Characterization of thrombosis in patients with Proteus syndrome. American journal of medical genetics. Part A 173 (9) (2017)
Kim M Keppler-Noreuil, Kristin M Conway, Dereck Shen, Anthony J Rhoads, John C Carey, Paul A Romitti, null null
Clinical and risk factor analysis of cloacal defects in the National Birth Defects Prevention Study. American journal of medical genetics. Part A 173 (11) (2017)
Kim M Keppler-Noreuil, Julian A Martinez, Louanne Hudgins, John C Carey
37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting. American journal of medical genetics. Part A 173 (8) (2017)