Kathryn Nicole Weaver (Kathryn N Weaver, K Nicole Weaver, N Weaver)

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 12

Top Topics

Autism Spectrum Disorder

Transcranial Magnetic Stimulation

Top Venues

American journal of medical genetics. Part A

Circulation. Genomic and precision medicine

Cardiology in the young

Journal of medical genetics

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

Publications

Carolyn R Serbinski, April Vanderwal, Sarah E Chadwell, Ana Isabel Sanchez, Robert J Hopkin, Robert B Hufnagel, Kathryn Nicole Weaver, Carlos E Prada
Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies. American journal of medical genetics. Part A (2023)
Jean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Patricia Fergelot, Jean Delmas, Boris Keren, Céline Poirsier, Fowzan Sami Alkuraya, Brahim Tabarki, Eric Bend, Kellie Davis, E Martina Bebin, Michelle L Thompson, Emily M Bryant, Matias Wagner, Iris Hannibal, Jerica Lenberg, Martin Krenn, Kristen M Wigby, Jennifer R Friedman, Maria Iascone, Anna Cereda, Térence Miao, Eric Le Guern, Emanuela Argilli, Elliott Sherr, Oana Caluseriu, Timothy Tidwell, Pinar Bayrak-Toydemir, Caroline Hagedorn, Melanie Brugger, Katharina Vill, Francois-Dominique Morneau-Jacob, Wendy K Chung, Kathryn Nicole Weaver, Joshua W Owens, Ammar Husami, Bimal P Chaudhari, Brandon S Stone, Katie Burns, Rachel Li, Iris M de Lange, Margaux Biehler, Emmanuelle Ginglinger, Bénédicte Gérard, Rolf W Stottmann, Aurélien Trimouille
ARF1 -related disorder: phenotypic and molecular spectrum. Journal of medical genetics (2023)
Elizabeth K Baker, Amy Shikany, David S Winlaw, Kathryn Nicole Weaver
Phenotypes and genotypes in a cohort of children with single-ventricle CHD. Cardiology in the young (2023)
Kathryn Nicole Weaver, Karen W Gripp
Central nervous system involvement in individuals with RASopathies. American journal of medical genetics. Part C, Seminars in medical genetics (2022)
Elizabeth K Baker, Casey J Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M Wied, Beth M Kline-Fath, Teresa A Smolarek, Kathryn Nicole Weaver, Robert J Hopkin
Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome. American journal of medical genetics. Part A (2022)
Kathryn Nicole Weaver, Jing Chen, Amy R Shikany, Peter S White, Carlos E Prada, Bruce D Gelb, James F Cnota, null null
Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis. Circulation. Genomic and precision medicine 15 (4) (2022)
Elizabeth K Baker, Beulah Solivio, Ben Pode-Shakked, Laura Ann Cross, Bonnie Sullivan, Annick Raas-Rothschild, Odelia Chorin, Ortal Barel, Omer Bar-Yosef, Ammar Husami, Robert J Hopkin, Carlos E Prada, Rolf W Stottmann, Kathryn Nicole Weaver
PPP2R1A neurodevelopmental disorder is associated with congenital heart defects. American journal of medical genetics. Part A 188 (11) (2022)
Kathryn Nicole Weaver, Marguerite Care, Emily Wakefield, Yuri A Zarate, Jesse Skoch, Karen W Gripp, Carlos E Prada
Craniosynostosis is a feature of Costello syndrome. American journal of medical genetics. Part A 188 (4) (2021)
Katherine A Inskeep, Yuri A Zarate, Danielle Monteil, Jurgen Spranger, Daniel A Doherty, Rolf W Stottmann, Kathryn Nicole Weaver
Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies. American journal of medical genetics. Part A (2021)
Kathryn Nicole Weaver, Bonnie R Sullivan, Stephanie A Balow, Sara Hopkin, Barbara A Chini, Brian S Pan, Rolf W Stottmann, Patricia L Bender, Robert J Hopkin, Xue Zhang, Howard M Saal
Robin sequence without cleft palate: Genetic diagnoses and management implications. American journal of medical genetics. Part A (2021)
Katherine Abell, Robert J Hopkin, Patricia L Bender, Farrah Jackson, Kelly Smallwood, Bonnie Sullivan, Rolf W Stottmann, Howard M Saal, Kathryn Nicole Weaver
Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey. American journal of medical genetics. Part A 185 (2) (2020)
K W Martin, Kathryn Nicole Weaver, Khalid A Alhasan, Evren Gumus, Bonnie R Sullivan, Martin Zenker, Friedhelm Hildebrandt, Julie D Saba
MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome. AJNR. American journal of neuroradiology 41 (10) (2020)