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Papers共 139 篇Author StatisticsCo-AuthorSimilar Experts

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O24: Heterozygous De Novo Variants in CDKL1 and CDKL2 Cause Neuroregressive Phenotypes in Human and Drosophila and Are Dominant Negative Alleles
Ali H. Bereshneh, Jonathan Andrews, Daniel Eberl,Guney Bademci, Nicholas Borja, Stephanie Bivona,Shinya Yamamoto,Michael F. Wangler,Shane McKee,Mustafa Tekin,Wendy Chung, Hugo Bellen,Oguz Kanca
Genetics in Medicine Open (2025): 102100
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De Novo Variants in CDKL1 and CDKL2 Are Associated with Neurodevelopmental Symptoms
Ali H Bereshneh,Jonathan C Andrews,Daniel F Eberl,Guney Bademci, Nicholas A Borja, Stephanie Bivona, Undiagnosed Diseases Network, Baylor College of Medicine Center for Precision Medicine Models,Wendy K Chung,Shinya Yamamoto,Michael F Wangler,Shane McKee,Mustafa Tekin,Hugo J Bellen,Oguz Kanca
American journal of human genetics（2025）
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Mutations in the Small Nuclear RNA Gene RNU2-2 Cause a Severe Neurodevelopmental Disorder with Prominent Epilepsy
Daniel Greene, Koenraad De Wispelaere, Jon Lees, Marta Codina-Solà,Brynjar O Jensson, Emma Hales, Andrea Katrinecz, Esther Nieto Molina, Sonia Pascoal,Rolph Pfundt,Rachel Schot, Marta Sevilla Porras,Frank Sleutels,Irene Valenzuela,Robin Wijngaard, Ignacio Arroyo Carrera, Giles Atton, Didac Casas-Alba,Deirdre Donnelly, Anna Duat Rodríguez,Bárbara Fernández Garoz,Nicola Foulds, Deyanira García-Navas Núñez, Elena González Alguacil, Joanna Jarvis,Sarina G Kant, Irene Madrigal Bajo, Antonio F Martinez-Monseny,Shane McKee, Nelmar Valentina Ortiz Cabrera, Laia Rodríguez-Revenga Bodi, Andrea Sariego Jamardo,Kari Stefansson,Patrick Sulem,Mohnish Suri, Clara Van Karnebeek,Pradeep Vasudevan, Ana Isabel Vega Pajares, Ángel Carracedo,Marc Engelen,Pablo Lapunzina, Natasha P Morgan,Beatriz Morte,Patrick Rump, Kathy Stirrups,Eduardo F Tizzano,Tahsin Stefan Barakat, Michael O'Donoghue,Luis Alberto Pérez-Jurado,Kathleen Freson,Andrew D Mumford,Ernest Turro
Nature geneticsno. 6 (2025): 1367-1373
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Description of Eight Novel Cases with Variants in DNAH14 Gene and Review of the Clinical and Molecular Features
Patricia Pascual Vinagre,Alejandro Parra,Mario Cazalla,Cristina Silvan,Natalia Gallego,Pedro Arias, Isabelle Thiffault, Daphna Marom, Sarah Donogue,Kenneth Myers, Hans A. Mayr,Shane McKee,Marcello Scala,Jair Tenorio,Pablo Lapunzina
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 531-531
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Mutations in the U2 Snrna Genernu2-2Pcause a Severe Neurodevelopmental Disorder with Prominent Epilepsy
Daniel Greene, Koenraad De Wispelaere, Jon Lees, Andrea Katrinecz, Sonia Pascoal, Emma Hales,Marta Codina-Sola,Irene Valenzuela, Eduardo F Tizzano, Giles Atton,Deirdre Donnelly,Nicola Foulds,Joanna Jarvis,Shane McKee, Michael O'Donoghue,Mohnish Suri,Pradeep Vasudevan, Kathy Stirrups, Natasha P Morgan,Kathleen Freson,Andrew D Mumford,Ernest Turro
crossref（2024）
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Large-scale Evaluation of Outcomes Following a Genetic Diagnosis in Children with Severe Developmental Disorders
Harriet Copeland,Karen J Low,Sarah Wynn, Ayesha Ahmed, Victoria Arthur,Meena Balasubramanian, Katya Bennett,Jonathan Berg,Marta Bertoli,Lisa Bryson, Catrin Bucknall,Jamie Campbell,Kate Chandler,Jaynee Chauhan, Amy Clarkson, Rachel Coles, Hector Conti,Philandra Costello, Tessa Coupar, Amy Craig,John Dean, Amy Dillon,Abhijit Dixit, Kathryn Drew,Jacqueline Eason,Francesca Forzano,Nicky Foulds,Alice Gardham,Neeti Ghali,Andrew Green, William Hanna,Rachel Harrison, Mairead Hegarty,Jenny Higgs,Muriel Holder,Rachel Irving,Vani Jain,Katie Johnson, Rachel Jolley,Wendy Jones,Gabriela Jones,Shelagh Joss, Ruta Kalinauskiene, Farah Kanini,Karl Kavanagh, Mahmudur Khan,Naz Khan,Emma Kivuva,Nayana Lahiri, Neeta Lakhani,Anne Lampe,Sally Ann Lynch,Sahar Mansour, Alice Marsden, Hannah Massey,Shane McKee,Shehla Mohammed,Swati Naik, Mithushanaa Nesarajah,Ruth Newbury-Ecob, Fiona Osborne,Michael J Parker,Jenny Patterson,Caroline Pottinger,Matina Prapa,Katrina Prescott, Shauna Quinn,Jessica A Radley,Sarah Robart,Alison Ross,Giulia Rosti,Francis Sansbury,Ajoy Sarkar,Claire Searle,Nora Shannon,Debbie Shears,Sarah Smithson,Helen Stewart,Mohnish Suri,Shereen Tadros, Rachel Theobald, Rhian Thomas, Olga Tsoulaki,Pradeep Vasudevan, Maribel Verdesoto,Emma Vittery, Sinead Whyte,Emily Woods,Thomas Wright,David Zocche,Helen V Firth,Caroline F Wright,the DDD Study
Genetics in Medicine Open (2024)
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Mutations in the U2 Snrna Gene RNU2-2P Cause a Severe Neurodevelopmental Disorder with Prominent Epilepsy
Daniel Greene, Koenraad De Wispelaere, Jon Lees, Andrea Katrinecz, Sonia Pascoal, Emma Hales,Marta Codina-Solà,Irene Valenzuela, Eduardo F Tizzano, Giles Atton,Deirdre Donnelly,Nicola Foulds,Joanna Jarvis,Shane McKee, Michael O'Donoghue,Mohnish Suri,Pradeep Vasudevan, Kathy Stirrups, Natasha P Morgan,Kathleen Freson,Andrew D Mumford,Ernest Turro
medRxiv the preprint server for health sciences (2024)
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Author Statistics

#Papers: 140

#Citation: 4348

H-Index: 32

G-Index: 64

Sociability: 8

Diversity: 3

Activity: 17

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