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Papers共 47 篇Author StatisticsCo-AuthorSimilar Experts

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P321: Identifying New Genotype/phenotype Correlations for Individuals Carrying Deleterious RERE Variants
David Curtis, Daryl Scott, Seema Lalani, Mahshid Azamian, Kierstin Keller,Alanna Strong,Joseph Shen, Colette DeFilippo,Himanshu Goel, Betsy Schmalz, Bimal Chaudhari,Shelagh Joss, Muge Gucsavas-Calikoglu, Yael Shiloh-Malawsky, Yezmin Perilla-Young, Olivia Thompson, Neena Champaigne, Luigi Chiratti, Marco Ferilli,Marco Tartaglia,Manuela Priolo, Radio Clementina, Christelle Achkar, Koen Gassen, Marie-José van den Boogard,Tony Roscioli, Kim McBride,Julie Lauzon, Hannes Syryn,Martine Cools,Elfride De Baere, Victor Faundes, Gabriela Repetto, Sarah Josephi-Taylor,Adam Bournazos,Sandra Cooper,Nichole Owen, Xiaonan Zhao
Genetics in Medicine Open (2025): 102286
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Pathogenic Variants in KMT2C Result in a Neurodevelopmental Disorder Distinct from Kleefstra and Kabuki Syndromes
Dmitrijs Rots,Sanaa Choufani,Victor Faundes,Alexander J. M. Dingemans,Shelagh Joss,Nicola Foulds,Elizabeth A. Jones, Sarah Stewart,Pradeep Vasudevan,Tabib Dabir,Soo-Mi Park,Rosalyn Jewell,Natasha Brown,Lynn Pais,Sebastien Jacquemont,Khadije Jizi,Conny M. A. van Ravenswaaij-Arts,Hester Y. Kroes,Constance T. R. M. Stumpel,Charlotte W. Ockeloen,Illja J. Diets,Mathilde Nizon,Marie Vincent,Benjamin Cogne,Thomas Besnard, Marios Kambouris,Emily Anderson,Elaine H. Zackai,Carey McDougall,Sarah Donoghue,Anne O'Donnell-Luria,Zaheer Valivullah,Melanie O'Leary,Siddharth Srivastava,Heather Byers,Nancy Leslie,Sarah Mazzola,George E. Tiller, Moin Vera,Joseph J. Shen, Richard Boles,Vani Jain,Elise Brischoux-Boucher,Esther Kinning,Brittany N. Simpson,Jacques C. Giltay,Jacqueline Harris,Boris Keren,Anne Guimier, Pierre Marijon,Bert B. A. de Vries,Constance S. Motter,Bryce A. Mendelsohn, Samantha Coffino,Erica H. Gerkes,Alexandra Afenjar,Paola Visconti,Elena Bacchelli,Elena Maestrini,Andree Delahaye-Duriez,Catherine Gooch,Yvonne Hendriks, Hieab Adams,Christel Thauvin-Robinet,Sarah Josephi-Taylor,Marta Bertoli,Michael J. Parker,Julie W. Rutten,Oana Caluseriu,Hilary J. Vernon, Jonah Kaziyev,Jia Zhu,Jessica Kremen,Zoe Frazier, Hailey Osika,David Breault,Sreelata Nair, Suzanne M. E. Lewis,Fabiola Ceroni,Marta Viggiano,Annio Posar,Helen Brittain,Traficante Giovanna,Gori Giulia,Lina Quteineh, Russia Ha-Vinh Leuchter,Evelien Zonneveld-Huijssoon,Cecilia Mellado,Isabelle Marey, Alicia Coudert, Mariana Ines Aracena Alvarez, Milou G. P. Kennis,Arianne Bouman,Maian Roifman, Maria Inmaculada Amoros Rodriguez,Juan Dario Ortigoza-Escobar,Vivian Vernimmen,Margje Sinnema,Rolph Pfundt,Han G. Brunner,Lisenka E. L. M. Vissers,Tjitske Kleefstra,Rosanna Weksberg,Siddharth Banka
AMERICAN JOURNAL OF HUMAN GENETICSno. 8 (2024): 1626-1642
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Table of Contents, Volume 194A, Number 3, March 2024
Roxanne Nelson,Susan Klugman,Adriana Inés Woods, Marina Débora,John Primrose,Ana Paiva, María del Carmen del Vando Blanco, Alberto Fabiana,Analía Sánchez‐Luceros, Soha Sewani,Mahshid S. Azamian,Bryce A. Mendelsohn,Frédéric Tran Mau‐Them,Manon Réda,Sophie Nambot,Bertrand Isidor,Jasper van der Smagt,Joseph Shen,Amelle Shillington, Louise J. White,Houda Zghal Elloumi,Peter Baker,Shayna Svihovec,Kathleen Brown, Y. Koopman-Keemink,Mariëtte J.V. Hoffer,Inge M.M. Lakeman,Elise Brischoux‐Boucher,Maria Kinali,Xiaonan Zhao,Seema R. Lalani,Daryl A. Scott,Swati Singh,Siddaramappa J. Patil,Mamta Muranjan,Hitesh Shah,Philippe M. Campeau, Gandham Bhavani,Ebba Alkhunaizi, Jenna Plamondon,Mahmoud Aarabi,Selma F. Witchel,Diane K. Wherrett,Riyana Babul‐Hirji,Annie Dupuis,Lyne Chiniara,Eric Chater‐Diehl,Mary Shago,Cheryl Shuman,Aleksandar Rajkovic,Svetlana A. Yatsenko,David Chitayat,Alexia Bourgois,Varoona Bizaoui,Cindy Colson,Aline Vincent‐Devulder,Arnaud Molin,Marion Gérard,Nicolas Gruchy,Xiang Chen,Libing Yun,Lu Yang,Yan Sun,Tao Chen,Laia Brunet‐Garcia, Pirasuja Prabaharan,Luc Bruyndonckx,Ella Field, Felice Arco,Claudio Capelli,Elena Cervi,Emma N. M. M. von Scheibler,Josine Widdershoven, Denise Van Barneveld,Nadja Schröder,Agnies M. van Eeghen,Thérèse van Amelsvoort,Erik Boot,Luis A. La Rocca,Julia Frank,Heidi Beate Bentzen,Jean Tori Pantel,Konrad Gerischer,Anton Bovier,Peter Krawitz,Alessia Carrer, Maria Romaniello,Maria Letizia Calderara,Milena Mariani,Andrea Biondi,Angelo Selicorni, Anne R. Leslie,Mary Ward,William B. Dobyns,Leanne de Kock,Alexanne Cuillerier,Meredith Gillespie,Madeline Couse,Taila Hartley,Wendy Mears,François P. Bernier,Albert E. Chudley,Patrick Frosk,Sarah M. Nikkel,A. Micheil Innes,Julie Lauzon,Maryann Thomas,Andrea Guerin,Christine M. Armour,Rosanna Weksberg,James R. Scott, Debra Watkins, Shirley Harvey,Cheryl Cytrynbaum, Canada Consortium,Kristin D. Kernohan,Kym M. Boycott,Khemika K Sudnawa,Sean Calamia,Alexa R. Geltzeiler,Wendy K. Chung,Shogo Furukawa,Mitsuhiro Kato,Toshihiro Nomura,Noriko Sumitomo,Shota Yoneno,Mitsuko Nakashima,Hirotomo Saitsu,Esra Kılıç, Can Kos
American journal of medical genetics Part A（2024）
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Author Statistics

#Papers: 47

#Citation: 2906

H-Index: 21

G-Index: 34

Sociability: 7

Diversity: 2

Activity: 9

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