Kelly Gilmore - Department of Obstetrics and Gynecology, University of North Carolina at Chapel Hill

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论文共 43 篇作者统计合作学者相似作者

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Biallellic Variants in SNAPIN Are Associated with a Novel Foetal Neuroanatomical Phenotype

Maayke de Koning,Hammad Yousaf,Kelly Gilmore,Mariette Hoffer,Georgios Kellaris, Phebe Adama van Scheltema,Monique Haak,Cacha Peeters-Scholte,Delphine Heron,Boris Keren, Karen El Akouri,Sophie Lanone,Maylis Dagouassat,Binnaz Yalcin,Neeta Vora,Manon Suerink,Erica Davis,Gijs Santen

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 42-42

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Novel Missense Variant in the SMARCD1 Gene As the Cause of Coffin-Siris Syndrome 11 in a Fetus with Ambiguous Genitalia and Multiple Dysmorphic Features

Rachel A Veazey, Allan J Fisher,Asha N Talati,Emily Hardisty,Kelly L Gilmore,Neeta L Vora

Prenatal diagnosis（2024）

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P735: Structural Variant Analysis Unveils Loss-of-function Promoter Deletion in Candidate Gene WDR44

Tam Sneddon, Mai Xiong,Kelly Gilmore,Karen Weck,Bradford Powell,Neeta Vora

Genetics in Medicine Open (2024): 101639

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WDR44 Loss-of-Function Promoter Deletion in a Male Newborn with a Ciliopathy Phenotype

Tam P. Sneddon,Kelly L. Gilmore, Mai Xiong,Karen E. Weck,Bradford C. Powell,Neeta L. Vora

American Journal of Medical Genetics Part A (2024)

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169 Curating the Fetal Genome: Experience of the ClinGen Prenatal Gene Curation Expert Panel (GCEP)

Stephanie Galloway,Jessica L. Giordano,Amanda Thomas-Wilson,Volkan Okur,Carrie J. Shawber,Kelly L. Gilmore, Julie Ratliff,Roni Zemet Lazar,Mythily Ganapathi,Natalie Chandler,Neeta L. Vora,Avinash V. Dharmadhikari,Jessica Van Ziffle,Teresa N. Sparks,David Chitayat,Lyn Chitty,Erin Riggs, Alicia B. Byrne,Ronald J. Wapner,Wendy Chung, Ignatia B. Van den Veyver

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGYno. 1 (2024): S106-S106

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P813: Experiences of Black Pregnant People Offered Prenatal Diagnosis in the Setting of Fetal Anomalies: A Qualitative Study

Asha Talati,Karen Sheffield-Abdullah, Aryana Daye,Kelly Gilmore,Marsha Michie, Anne Lyerly,Neeta Vora

Genetics in Medicine Open (2024): 101721

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1 Multicenter, Prospective Cohort of Genome Sequencing in 750 Fetal Structural Anomalies

Ronald J. Wapner,Jessica L. Giordano,Jessica de Voest,Kelly L. Gilmore,Lauren Westerfield,Alexandra Tinfow,Stephanie Galloway,Leandra Tolusso,Beatrix Wong,Farrah Jackson, Grant Bonesteele,Theresa Wittman,Blair Stevens,Samantha Stover,Anthony Johnson,Nancy Doan Leslie,Daniel Swarr,Aaron B. Caughey,Wendy Chung,Rebecca Clifton

American journal of obstetrics and gynecologyno. 1 (2024): S2-S2

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SRPK3 is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability

ANNALS OF NEUROLOGYno. 5 (2024): 914-931

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The Expanded Spectrum of Human Disease Associated with GREB1L Likely Includes Complex Congenital Heart Disease

Emily Zhao,Miles Bomback,Atlas Khan, Sarath Krishna Murthy,David Solowiejczyk,Neeta L. Vora,Kelly L. Gilmore,Jessica L. Giordano,Ronald J. Wapner,Simone Sanna-Cherchi,Alex Lyford,Angie C. Jelin, Ali G. Gharavi,Thomas Hays

PRENATAL DIAGNOSISno. 3 (2024): 343-351

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P799: Experiences with an Adult Reproductive Clinical Genetics and Genomics Clinic: Insights and Opportunities

Madeline Dyke,Asha Talati,Emily Hardisty, Smriti Singh,Kelly Gilmore,Rachel Veazey,Ginger Hocutt, Amy Mottola,Neeta Vora

Genetics in Medicine Open (2024): 101707

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