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Research Interests

Papers共 756 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
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KIDINS220 Variant Associated with Hypoplasia of the Corpus Callosum and Aqueduct Stenosis
Kimia Ghannad-Zadeh,Patrick Shannon,Rebekah Jobling,Elka Miller, Karen Chong, Erin Mathews,David Chitayat,Shiri Shinar
Prenatal diagnosisno. 6 (2025): 825-828
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Brain Abnormalities in Prenatally Diagnosed Rubinstein-Taybi Syndrome
Laurence S Carmant,Elka Miller,Susan Blaser,Patrick Shannon, Karen Chong,David Chitayat,Shiri Shinar
Prenatal diagnosisno. 5 (2025): 686-692
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Interests and Experiences of Young Adults with Muscular Dystrophy in Receiving Genetic Information
Leah Hammond,Christina Ippolito, Kimberly Amburgey,David Chitayat,Stacy Hewson,Laura McAdam
Journal of child neurologypp.8830738251330413-8830738251330413, (2025)
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Autosomal Dominant HK1-related Neurodevelopmental Disorder with Visual Defects and Brain Anomalies (NEDVIBA): an Emerging Mitochondrial Disorder
Bobby G Ng,Erik A Eklund, Jill A Rosenfeld,Abdallah F Elias, Aya Abu-El-Haija,Celine Bris,Magalie Barth,Jong-Hee Chae,Murim Choi, Holly A Dubbs,Carl Fratter,Nicola Foulds,Candace Gamble,Ralitza H Gavrilova, Jaclyn Haven, Trevor L Hoffman,Jill V Hunter,Austin Larson, Timothy Edward Lotze, Pilar Magoulas, Emily C Magness, Debra M Bootin, Eric D Marsh, Victoria Nesbitt, Matthew T Pastore, Joanna Poulton,Shamima Rahman,Fernando Scaglia, Chaya Murali, Jennifer Posey,Joshua Rotenberg, Betsy Schmalz,Deepali N Shinde, Zöe Powis, Rivka Sukenik-Halevy, Kristen V Truxal, Tami Uster, Matheus Vernet Machado Bressan Wilke, Erik Klee,Hyewon Woo, Donald Younkin, Jianhua Zhao, Jorge Granadillo, Seema Lalani,David Chitayat, Wendy K Chung, Hudson H Freeze, Volkan Okur
Genetics in medicine open (2025): 103425-103425
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Pathogenic Variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction
Niccolò E Mencacci,Georgia Minakaki,Reza Maroofian, Raffaella De Pace, Adeline Paimboeuf,Patrick Shannon,David Chitayat,Francesca Magrinelli, Wesley J Peng,Diptaman Chatterjee, Sara H Eldessouky,Julia Baptista, Tamas Marton,Julie Vogt, Juan Dario Ortigoza-Escobar, Loreto Martorell, Marta Gómez-Chiari,Ingrid M Wentzensen, Erik-Jan Kamsteeg,Maha S Zaki, Annarita Scardamaglia,Giovanni Zifarelli,Zuhair Nasser Al-Hassnan,Elka Miller,Shiri Shinar, Lova S Matsa, Sri Hari Chandan Appikonda,Michael Schwake,Mariasavina Severino,Henry Houlden,Shunmoogum A Patten,Juan S Bonifacino, Kailash P Bhatia,Dimitri Krainc
medRxiv the preprint server for health sciences (2025)
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P836: Defining and Measuring the Value of Genetic Testing: Developing the Patient-Reported Genetic Testing Utility Index (P-GUIDE) for Prenatal Care
Stephanie Luca, Daniel Assamad, Yueyin Xia, Elise Poole, Joyce Yan, Bowen Xiao,Rachel Silver, Melissa Maio, Claire Newman,Ronni Teitelbaum,David Chitayat,Stacy Hewson, Wendy Ungar, Robin Hayeems
Genetics in Medicine Open (2025): 103205
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Author Statistics

#Papers: 758

#Citation: 28481

H-Index: 83

G-Index: 148

Sociability: 9

Diversity: 3

Activity: 38

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