Weaver K Nicole - Division of Developmental Biology, Cincinnati Children’s Hospital Medical Center

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论文共 76 篇作者统计合作学者相似作者

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Phenotypes and Genotypes in a Cohort of Children with Single-Ventricle CHD

Elizabeth K. Baker,Amy Shikany, David S. Winlaw,K. Nicole Weaver

CARDIOLOGY IN THE YOUNGno. 4 (2024): 815-821

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Novel Insights into the Phenotypic Spectrum and Pathogenesis of Hardikar Syndrome

Alanna Strong,Michael E. March,Christopher J. Cardinale,Yichuan Liu,Mark R. Battig,Livia Sertori Finoti,Leticia S. Matsuoka,Deborah Watson, Sindura Sridhar, James F. Jarrett, India Cannon, Dong Li,Elizabeth Bhoj,Elaine H. Zackai,Elizabeth B. Rand,Tara Wenger,Bruce B. Lerman,Amy Shikany,K. Nicole Weaver,Hakon Hakonarson

GENETICS IN MEDICINEno. 10 (2024)

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Factors Influencing Survival in Sphingosine Phosphate Lyase Insufficiency Syndrome: a Retrospective Cross-Sectional Natural History Study of 76 Patients

Nancy Keller,Julian Midgley, Ehtesham Khalid,Harry Lesmana,Georgie Mathew, Christine Mincham, Norbert Teig, Zubair Khan, Indu Khosla, Sam Mehr,Tulay Guran,Kathrin Buder,Hong Xu,Khalid Alhasan,Gonul Buyukyilmaz,Nicole Weaver,Julie D. Saba

ORPHANET JOURNAL OF RARE DISEASES（2024）

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Role of CAMK2D in Neurodevelopment and Associated Conditions

Pomme M. F. Rigter,Charlotte de Konink,Matthew J. Dunn,Martina Proietti Onori,Jennifer B. Humberson,Matthew Thomas, Caitlin Barnes,Carlos E. Prada,K. Nicole Weaver, Thomas D. Ryan,Oana Caluseriu,Jennifer Conway,Emily Calamaro,Chin-To Fong,Wim Wuyts,Marije Meuwissen, Eva Hordijk, Carsten N. Jonkers, Lucas Anderson, Berfin Yuseinova, Sarah Polonia,Diane Beysen,Zornitza Stark,Elena Savva,Cathryn Poulton,Fiona McKenzie,Elizabeth Bhoj,Caleb P. Bupp,Stephane Bezieau,Sandra Mercier,Amy Blevins,Ingrid M. Wentzensen,Fan Xia,Jill A. Rosenfeld,Tzung-Chien Hsieh,Peter M. Krawitz,Miriam Elbracht,Danielle C. M. Veenma,Howard Schulman,Margaret M. Stratton,Sebastien Kury,Geeske M. van Woerden

AMERICAN JOURNAL OF HUMAN GENETICSno. 2 (2024)

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Expanding the Phenotype of Neurofibromatosis Type 1 Microdeletion Syndrome

Jenny P. Garzon, Andrea Patete,Lindsey Aschbacher-Smith,Dima Qu'd,Geraldine Kelly-Mancuso, Carolyn R. Raski,Allison Goetsch Weisman, Madison Hankins, Michael Sawin,Katherine Kim,Andy Drackley,Janice Zeid,K. Nicole Weaver,Robert J. Hopkin,Howard M. Saal,Joel Charrow,Elizabeth Schorry,Robert Listernick,Brittany N. Simpson,Carlos E. Prada

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2024)

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P476: Marfan Syndrome Evaluation: Improving Access Through an Alternative Care Delivery Model*

Nicole Weaver,Erin Miller, Cara Barnett,Nicole Brown,Ashley Neal, Alissa Meek,Amy Shikany

Genetics in Medicine Open (2024): 101375

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Estimating Prevalence of Rare Genetic Disease Diagnoses Using Electronic Health Records in a Children’s Hospital

Kate Herr, Peixin Lu, Kessi Diamreyan,Huan Xu,Eneida Mendonca,K. Nicole Weaver,Jing Chen

HUMAN GENETICS AND GENOMICS ADVANCESno. 4 (2024)

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POLR1A Variants Underlie Phenotypic Heterogeneity in Craniofacial, Neural, and Cardiac Anomalies

American journal of human genetics（2023）

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P350: Variants in MED12 Are Associated with Left Ventricular Non-Compaction and Arrhythmia

Nicole Weaver,Amy Shikany, Emile Vieta,Bianca Russell,Bruce Lerman,Alanna Strong,Dong Li

Genetics in medicine openno. 1 (2023): 100378-100378

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