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Research Interests

Papers共 78 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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期刊级别
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Loss of DOT1L Disrupts Neuronal Transcription and Leads to a Neurodevelopmental Disorder
Marissa J Maroni, Melissa Barton, Katherine Lynch,Ashish R Deshwar, Philip D Campbell, Josephine Millard, Rachel Lee, Annastelle Cohen, Rili Ahmad,Alekh Paranjapye, Víctor Faundes,Gabriela M Repetto,Caoimhe McKenna, Amelle L Shillington,Chanika Phornphutkul, Hanne B Hove, Grazia M S Mancini,Rachel Schot,Tahsin Stefan Barakat, Christopher M Richmond,Julie Lauzon, Ahmed Ibrahim Elsayed Ibrahim,Caroline Nava,Delphine Héron, Minke M A van Aalst, Slavena Atemin, Mila Sleptsova,Iliyana Aleksandrova,Albena Todorova, Debra L Watkins, Mariya A Kozenko,Daniel Natera-de Benito, Carlos Ortez, Berta Estevez-Arias,François Lecoquierre,Kévin Cassinari,Anne-Marie Guerrot,Jonathan Levy,Xenia Latypova,Alain Verloes,A Micheil Innes, Xiao-Ru Yang,Siddharth Banka,Katharina Vill, Maureen Jacob, Michael Kruer, Peter Skidmore, Carolina I Galaz-Montoya,Somayeh Bakhtiari, Jessica L Mester,Michael Granato,Karim-Jean Armache, Gregory Costain,Erica Korb
Brain a journal of neurology (2025)
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Long-read DNA and RNA Sequencing Reveal an Intronic Retrotransposon Insertion in TCOF1 Causing Treacher Collins Syndrome
Federico Ferraro, Nikolas Kuehn, Dmitrijs Rots,Herma C. van der Linde, Banin Mohseni, Leontine van Unen, Mark Drost,Mark Nellist, Marieke Koekkoek,Rachel Schot, Henriette W. de Gier, Mieke Pleumeekers, Tahsin S. Barakat,Tjitske Kleefstra,Marjolein Weerts, Marieke F. van Dooren,Tjakko J. van Ham
medrxiv（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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Author Statistics

#Papers: 78

#Citation: 1683

H-Index: 24

G-Index: 40

Sociability: 7

Diversity: 3

Activity: 14

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