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论文共 63 篇作者统计合作学者相似作者

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Monoallelic Variation in DHX9, the Gene Encoding the DExH-box Helicase DHX9, Underlies Neurodevelopment Disorders and Charcot-Marie-Tooth Disease

Daniel G. Calame, Tianyu Guo,Chen Wang,Lillian Garrett,Angad Jolly,Moez Dawood,Alina Kurolap,Noa Zunz Henig,Jawid M. Fatih,Isabella Herman,Haowei Du,Tadahiro Mitani,Lore Becker,Birgit Rathkolb,Raffaele Gerlini,Claudia Seisenberger,Susan Marschall,Jill Hunter,Amanda Gerard,Alexis Heidlebaugh,Thomas Challman,Rebecca C. Spillmann,Shalini N. Jhangiani,Zeynep Coban-Akdemir,Seema Lalani,Lingxiao Liu,Anya Revah-Politi,Alejandro Iglesias,Edwin Guzman,Evan Baugh,Nathalie Boddaert,Sophie Rondeau, Clothide Ormieres,Giulia Barcia,Queenie K. G. Tan,Sophie Isabelle Thiffault,Tomi Pastinen,Kazim Sheikh,Suur Biliciler,Davide Mei,Federico Melani,Vandana Shashi,Yuval Yaron,Mary Steele,Emma Wakeling,Elsebet Ostergaard,Lusine Nazaryan-Petersen,Francisca Millan,Teresa Santiago-Sim,Julien Thevenon,Ange-Line Bruel,Christel Thauvin-Robinet,Denny Popp,Konrad Platzer,Pawel Gawlinski,Wojciech Wiszniewski,Dana Marafi,Davut Pehlivan,Jennifer E. Posey,Richard A. Gibbs,Valerie Gailus-Durner,Renzo Guerrini,Helmut Fuchs,Martin Hrabe de Angelis,Sabine M. Hoelter,Hoi-Hung Cheung,Shen Gu,James R. Lupski

AMERICAN JOURNAL OF HUMAN GENETICS（2023）

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The Clinical and Genetic Spectrum of Autosomal-Recessive TOR1A-related Disorders

Afshin Saffari,Tracy Lau,Homa Tajsharghi,Ehsan Ghayoor Karimiani,Ariana Kariminejad,Stephanie Efthymiou,Giovanni Zifarelli, Tipu Sultan,Mehran Beiraghi Toosi,Sahar Sedighzadeh,Victoria Mok Siu,Juan Dario Ortigoza-Escobar,Aisha M. AlShamsi,Shahnaz Ibrahim,Nouriya Abbas Al-Sannaa,Walla Al-Hertani,Whalen Sandra,Mark Tarnopolsky,Shahryar Alavi,Chumei Li,Debra-Lynn Day-Salvatore,Maria Jesus Martinez-Gonzalez, Kristin M. Levandoski,Emma Bedoukian,Suneeta Madan-Khetarpal,Michaela J. Idleburg,Minal Juliet Menezes,Aishwarya Siddharth,Konrad Platzer,Henry Oppermann,Martin Smitka,Felicity Collins,Monkol Lek,Mohmmad Shahrooei,Maryam Ghavideldarestani,Isabella Herman,John Rendu,Julien Faure,Janice Baker,Vikas Bhambhani,Laurel Calderwood,Javad Akhondian,Shima Imannezhad,Hanieh Sadat Mirzadeh,Narges Hashemi,Mohammad Doosti,Mojtaba Safi,Najmeh Ahangari,Paria Najarzadeh Torbati,Soheila Abedini,Vincenzo Salpietro,Elif Yilmaz Gulec, Safieh Eshaghian,Mohammadreza Ghazavi, Michael T. Pascher, Marina Vogel,Angela Abicht,Sebastien Moutton,Ange-Line Bruel,Claudine Rieubland,Sabina Gallati,Tim M. Strom,Hanns Lochmueller,Mohammad Hasan Mohammadi,Javeria Raza Alvi,Elaine H. Zackai,Beth A. Keena,Cara M. Skraban,Seth Berger,Erin H. Andrew,Elham Rahimian,Michelle M. Morrow,Ingrid M. Wentzensen,Francisca Millan,Lindsay B. Henderson,Hormos Salimi Dafsari,Heinz Jungbluth,Natalia Gomez-Ospina,Anne McRae,Merlene Peter,Danai Veltra,Nikolaos M. Marinakis,Christalena Sofocleous,Farah Ashrafzadeh,Davut Pehlivan,Johannes R. Lemke,Judith Melki,Audrey Benezit,Peter Bauer,Denisa Weis,James R. Lupski,Jan Senderek,John Christodoulou,Wendy K. Chung,Rose Goodchild,Amaka C. Offiah,Andres Moreno-De-Luca,Mohnish Suri,Darius Ebrahimi-Fakhari,Henry Houlden,Reza Maroofian

Brain（2023）

引用2浏览0WOS引用

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

JAMA neurologyno. 9 (2023): 980-980

引用2浏览0WOS引用

Systematic Analysis of Variants Escaping Nonsense-Mediated Decay Uncovers Candidate Mendelian Diseases

Rebecca I. Torene,Maria J. Guillen Sacoto,Francisca Millan,Zhancheng Zhang,Stephen Mcgee,Matthew Oetjens, Elizabeth Heise,Karen Chong,Richard Sidlow,Lauren O'Grady,Inderneel Sahai,Christa L. Martin,David H. Ledbetter,Scott M. Myers,Kevin J. Mitchell,Kyle Retterer

American journal of human geneticsno. 1 (2023): 70-81

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Elucidating the Clinical and Molecular Spectrum Ofsmarcc2-Associated NDD in a Cohort of 65 Affected Individuals

Elisabeth Bosch,Bernt Popp,Esther Guese,Cindy Skinner,Pleuntje J. van der Sluijs,Isabelle Maystadt,Anna Maria Pinto,Alessandra Renieri,Lucia Pia Bruno,Stefania Granata,Carlo Marcelis,Oezlem Baysal,Dewi Hartwich,Laura Holthoefer,Bertrand Isidor,Benjamin Cogne,Dagmar Wieczorek,Valeria Capra,Marcello Scala,Patrizia De Marco,Marzia Ognibene,Rami Abou Jamra,Konrad Platzer,Lauren B. Carter,Outi Kuismin,Arie van Haeringen,Reza Maroofian,Irene Valenzuela,Ivon Cusco,Julian A. Martinez-Agosto,Ahna M. Rabani,Heather C. Mefford,Elaine M. Pereira,Charlotte Close,Kwame Anyane-Yeboa,Mallory Wagner,Mark C. Hannibal,Pia Zacher,Isabelle Thiffault,Gea Beunders,Muhammad Umair,Priya T. Bhola,Erin Mcginnis,John Millichap,Jiddeke M. van de Kamp,Eloise J. Prijoles,Amy Dobson,Amelle Shillington, Brett H. Graham, Evan-Jacob Garcia,Maureen Kelly Galindo,Fabienne G. Ropers,Esther A. R. Nibbeling,Gail Hubbard,Catherine Karimov,Guido Goj,Renee Bend,Julie Rath,Michelle M. Morrow,Francisca Millan,Vincenzo Salpietro,Annalaura Torella,Vincenzo Nigro,Mitja Kurki,Roger E. Stevenson,Gijs W. E. Santen,Markus Zweier,Philippe M. Campeau,Mariasavina Severino,Andre Reis,Andrea Accogli,Georgia Vasileiou

GENETICS IN MEDICINE（2023）

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A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

medRxivno. 1 (2022): 100157-100157

引用2浏览0WOS引用

Genomic and Phenotypic Characterization of 404 Individuals with Neurodevelopmental Disorders Caused by CTNNB1 Variants

Sayaka Kayumi,Luis A. Perez-Jurado,Maria Palomares,Sneha Rangu,Sarah E. Sheppard,Wendy K. Chung,Michael C. Kruer,Mira Kharbanda,David J. Amor,George McGillivray,Julie S. Cohen,Sixto Garcia-Minaur,Clare L. van Eyk,Kelly Harper,Lachlan A. Jolly,Dani L. Webber,Christopher P. Barnett,Fernando Santos-Simarro,Marta Pacio-Miguez,Angela del Pozo,Somayeh Bakhtiari,Matthew Deardorff,Holly A. Dubbs,Kosuke Izumi,Katheryn Grand,Christopher Gray,Paul R. Mark,Elizabeth J. Bhoj, Dong Li,Xilma R. Ortiz-Gonzalez,Beth Keena,Elaine H. Zackai,Ethan M. Goldberg, Guiomar Perez de Nanclares,Arrate Pereda,Isabel Llano-Rivas,Ignacio Arroyo, Maria Angeles Fernandez-Cuesta,Christel Thauvin-Robinet,Laurence Faivre,Aurore Garde,Benoit Mazel,Ange-Line Bruel, Michael L. Tress,Eva Brilstra, Amena Smith Fine,Kylie E. Crompton,Alexander P. A. Stegmann,Margje Sinnema,Servi C. J. Stevens,Joost Nicolai,Gaetan Lesca,Laurence Lion-Francois,Damien Haye,Nicolas Chatron,Amelie Piton,Mathilde Nizon,Benjamin Cogne,Siddharth Srivastava,Jennifer Bassetti,Candace Muss, Karen W. Gripp,Rebecca A. Procopio,Francisca Millan,Michelle M. Morrow,Melissa Assaf,Andres Moreno-De-Luca,Shelagh Joss,Mark J. Hamilton,Marta Bertoli, Nicola Foulds,Shane McKee,Alastair H. MacLennan, Jozef Gecz,Mark A. Corbett

Genetics in medicine（2022）

引用7浏览0WOS引用

Heterozygous Variants in MYH10 Associated with Neurodevelopmental Disorders and Congenital Anomalies with Evidence for Primary Cilia-Dependent Defects in Hedgehog Signaling

Alexander M. Holtz, Rachel VanCoillie,Elizabeth A. Vansickle,Deanna Alexis Carere,Kara Withrow,Erin Torti,Jane Juusola,Francisca Millan,Richard Person,Maria J. Guillen Sacoto,Yue Si,Ingrid M. Wentzensen,Jada Pugh,Georgia Vasileiou,Melissa Rieger,Andr Prime E. Reis,Emanuela Argilli,Elliott H. Sherr,Kimberly A. Aldinger,William B. Dobyns,Theresa Brunet, Julia Hoefele,Matias Wagner,Benjamin Haber,Urania Kotzaeridou,Boris Keren,Delphine Heron,Cyril Mignot,Solveig Heide,Thomas Courtin,Julien Buratti,Serini Murugasen,Kirsten A. Donald,Emily O'Heir, Shade Moody,Katherine H. Kim, Barbara K. Burton,Grace Yoon, Miguel Del Campo,Diane Masser-Frye,Mariya Kozenko, Christina Parkinson,Susan L. Sell, Patricia L. Gordon,Jeremy W. Prokop, Amel Karaa,Caleb Bupp,Benjamin A. Raby

Genetics in medicine（2022）

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