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Papers共 43 篇Author StatisticsCo-AuthorSimilar Experts

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Sequence Variants in HECTD1 Result in a Variable Neurodevelopmental Disorder
Gazelle Zerafati-Jahromi, Elias Oxman, Hieu D. Hoang, Wu-Lin Charng, Tanvitha Kotla, Weimin Yuan, Keito Ishibashi,Sonia Sebaoui, Kathryn Luedtke, Bryce Winrow, Rebecca D. Ganetzky,Anna Ruiz, Carmen Manso-Basúz,Nino Spataro,Peter Kannu,Taryn Athey,Christina Peroutka, Caitlin Barnes,Richard Sidlow, George Anadiotis
The American Journal of Human Genetics (2025)
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Applying Data Science Methodologies with Artificial Intelligence Variant Reinterpretation to Map and Estimate Genetic Disorder Prevalence Utilizing Clinical Data
Suellen Jackson, Rebecca Freeman, Adriana Noronha, Hafsah Jamil, Eric Chavez,Jason Carmichael, Kaylee M. Ruiz,Christine Miller,Sarah Benke, Rosalie Perrot, Maryam Hockley, Kady Murphy, Aimiel Casillan, Lily Radanovich, Roger Deforest,Mark E. Nunes, Carolina Galarreta-Aima,Richard Sidlow,Yaron Einhorn,Jeremy Woods
AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 5 (2024)
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P130: Phenotypic Spectrum of Individuals with SLC16A2 Variants: Allan-Herndon-Dudley Syndrome*
Kirsty McWalter,Andrew Bauer, Houda Elloumi,Richard Sidlow, Ben Willis, John Walsh
Genetics in Medicine Open (2024): 101027
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A Novel Autism-Associated KCNB1 Mutation Dramatically Slows Kv2.1 Potassium Channel Activation, Deactivation and Inactivation
Rian W. Manville, Samantha D. Block, Claire L. Illeck, Jessica Kottmeier,Richard Sidlow,Geoffrey W. Abbott
Frontiers in Cellular Neuroscience (2024)
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Table of Contents, Volume 194A, Number 5, May 2024
Mona M. Makhamreh,Kavya Shivashankar,Sarah Araji,Elizabeth Critchlow, Barbara O’Brien,Sascha Wodoslawsky,Seth Berger,Huda B. Al‐Kouatly, Yu Yang, Ye Qiao, Yong Yang, C. L. Luo, K. Yao,Arianne Bouman,Joyce Geelen,Joost Kummeling,Annette Schenck, Yvonne Van Der Zwan,Willemijn M. Klein,Tjitske Kleefstra,Sonia Hills, Quanzhong Li,Jill A. Madden,Casie A. Genetti,Catherine A. Brownstein,Klaus Schmitz‐Abe,Alan Beggs,Pankaj B. Agrawal, Daisuke Miyahara,Kosei Hasegawa, Yukio Ago,Natsuko Futagawa,Hiroyuki Miyahara, Yasuhiro Higuchi,Kazuki Yamada,Tomonori Tetsunaga, Toshio Moriwake,Hiroyuki Tanaka,Hirokazu Tsukahara, S. A. Jackson, Rebecca Freeman, Adriana Backx Noronha, Hafsah Jamil, Elizabeth A. Chavez,Jason Carmichael, Kaylee M. Ruiz,Christine Miller,Sarah Benke, Roger Perrot, Maryam Hockley,Kieran Murphy, Aimiel Casillan, Lily Radanovich, Roger Deforest,Mark E. Nuñes,Carolina I. Galarreta,Richard Sidlow,Yaron Einhorn,Jeremy D. Woods,Julián Ramírez‐Cheyne, Diana María López,César Payán‐Gómez, Mauricio Arcos‐Burgos, Wilmar Saldarriaga,Jonathan D. Santoro,Mellad Khoshnood,Natalie K. Boyd,Benjamin Vogel, Linda Anh B. Nguyen,Laura E. Saucier,Rebecca Partridge,Emmanuelle Tiongson,Leigh Ramos‐Platt,Deepti Nagesh,Eugenia Ho,Tena Rosser,Nusrat Ahsan,Wendy Mitchell,Michael S. Rafii,Giulia Pascolini, Giovanni Zenzo,Annarita Panebianco, Biagio Didona, Illana Gozes, Emma Lo,Justin Thomas Blair, Naoko Yamamoto,Maria Alejandra Diaz‐Miranda,Emma Bedoukian,Christopher Gray, Audrey Lawrence,Kavita Dedhia,Lisa Elden,John A. Germiller,Ken Kazahaya,Steven E. Sobol,Minjie Luo,Ian D. Krantz,Tiffiney R. Hartman,Rosario Ramos‐Mejía, G. Isoldi, Paddy Ireland, Marí a José Rodrí guez,Virginia Fano,Rory J. Tinker,Lisa Bastarache,Kimberly Ezell, Sandra Neumann,Yutaka Furuta, K. Morgan, John L. Phillips, Christoph P. Hofmann,Steffen Syrbe,Joachim Hebe, Jannis Kreft,Sebastian Stark,Till Milde, Mirko Völkers,Georg Hoffmann,Matthias Gorenflo,Alexander Kovacevic,Khurram Liaqat,Kayla Treat,Lili Mantcheva, Abdul Nasır,C. David Weaver,Erin Conboy,Francesco Vetrini,Dzhoy Papingi,Tatjana Bierhals,Alexander E. Volk, Michael Kutsche,Kevin Paúl,Theresia Herget,Lidia Pezzani,Laura Pezzoli,Erica Rosina,Agnese Scatigno,Anna Cereda,Camilla Lucca,Matteo Bellini,Daniela Marchetti, Marzia Maino,Giovanna Mangili,Angelo Selicorni,Maria Iascone, Giulia Gobbo,Wang Xue-qi,Madeline Couse, Lynn MacKay,Claire Goldsmith,Aren E. Marshall, Yanchun Liang,Christine Lambert, Siyuan Zhang,Harsharan Dhillon,Cairbre Fanslow,William J Rowell, Canada Consortium,Christian R. Marshall,Kristin D. Kernohan,Kym M. Boycott, Claire Ryckmans, Mylène Donge, Antonia Marchèse, Mériem Mastouri,Caroline Thomée,Katrien Stouffs, Sandra‐Lucile Lieser,Emmanuel Scalais,Alessandro De Falco,Marianthi Karali,Chiara Criscuolo,Francesco Testa,Maria Rosaria Barillari,Margherita Scarpato,Valeria Gaudieri, A. Cuocolo, Anna Russo,Vincenzo Nigro,Francesca Simonelli,Sandro Banfi,Nicola Brunetti‐Pierri
American journal of medical genetics Part A（2024）
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A Novel Loss-of-function KCNB1 Gene Variant in a Twin with Global Developmental Delay and Seizures
Rian W. Manville, Claire L. Illeck, Cesar Santos,Richard Sidlow,Geoffrey W. Abbott
FRONTIERS IN CELLULAR NEUROSCIENCE (2024)
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Author Statistics

#Papers: 43

#Citation: 97

H-Index: 5

G-Index: 8

Sociability: 6

Diversity: 2

Activity: 8

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