Le Thuy Linh

Lab Embryol & Genet Malformat Univ Paris

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论文共 13 篇作者统计合作学者相似作者

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TREX Tetramer Disruption Alters RNA Processing Necessary for Corticogenesis in THOC6 Intellectual Disability Syndrome

Elizabeth A. Werren,Geneva R. LaForce,Anshika Srivastava,Delia R. Perillo, Shaokun Li,Katherine Johnson,Safa Baris,Brandon Berger,Samantha L. Regan,Christian D. Pfennig,Sonja de Munnik,Rolph Pfundt,Malavika Hebbar,Raúl Jimenez-Heredia,Elif Karakoc-Aydiner,Ahmet Ozen,Jasmin Dmytrus,Ana Krolo,Ken Corning, E. J. Prijoles,Raymond J. Louie,Robert Roger Lebel,Thuy-Linh Le,Jeanne Amiel,Christopher T. Gordon,Kaan Boztug,Katta M. Girisha,Anju Shukla,Stephanie L. Bielas,Ashleigh E. Schaffer

Nature Communicationsno. 1 (2024)

引用0浏览0WOSNATURE引用

Bi-allelic Loss-of-function Variants in WBP4, Encoding a Spliceosome Protein, Result in a Variable Neurodevelopmental Syndrome

Eden Engal,Kaisa Teele Oja,Reza Maroofian,Ophir Geminder,Thuy-Linh Le,Pauline Marzin,Anne Guimier, Evyatar Mor, Naama Zvi,Naama Elefant,Maha S. Zaki,Joseph G. Gleeson,Kai Muru,Sander Pajusalu,Monica H. Wojcik, Divya Pachat,Marwa Abd Elmaksoud,Won Chan Jeong, Hane Lee,Peter Bauer,Giovanni Zifarelli,Henry Houlden,Muhannad Daana,Orly Elpeleg,Jeanne Amiel,Stanislas Lyonnet,Christopher T. Gordon,Tamar Harel,Katrin Ounap,Maayan Salton,Hagar Mor-Shaked

AMERICAN JOURNAL OF HUMAN GENETICSno. 12 (2023): 2112-2119

引用2浏览0WOS引用

Mechanisms of Mrna Processing Defects in Inherited THOC6 Intellectual Disability Syndrome

Elizabeth Werren,Geneva LaForce,Anshika Srivastava,Delia Perillo,Katherine Johnson,Brandon Berger,Samantha Regan,Christian Pfennig,Safa Baris,Sonja de Munnik,Rolph Pfundt,Malavika Hebbar,Raul Jimenez Heredia,Elif Karakoc-Aydiner,Ahmet Ozen,Jasmin Dmytrus,Ana Krolo,Ken Corning,Eloise Prijoles,Raymond Louie,Robert Lebel,Thuy-Linh Le,Jeanne Amiel, Christopher Gordon,Kaan Boztug,Katta Girisha,Anju Shukla,Stephanie Bielas,Ashleigh Schaffer

Research square (2023)

引用0浏览0WOS引用

Operative List of Genes Associated with Autism and Neurodevelopmental Disorders Based on Database Review

Claire S. Leblond,Thuy-Linh Le,Simon Malesys,Freddy Cliquet,Anne-Claude Tabet,Richard Delorme,Thomas Rolland,Thomas Bourgeron

Molecular and Cellular Neuroscience（2021）

引用39浏览0WOS引用

Dysregulation of the NRG1/ERBB Pathway Causes a Developmental Disorder with Gastrointestinal Dysmotility in Humans

Thuy-Linh Le,Louise Galmiche,Jonathan Levy,Pim Suwannarat,Debby Mei Hellebrekers,Khomgrit Morarach,Franck Boismoreau,Tom E. J. Theunissen,Mathilde Lefebvre,Anna Pelet,Jelena Martinovic,Antoinette Gelot,Fabien Guimiot,Amanda Calleroz,Cyril Gitiaux,Marie Hully,Olivier Goulet,Christophe Chardot,Severine Drunat,Yline Capri,Christine Bole-Feysot,Patrick Nitschke,Sandra Whalen,Linda Mouthon,Holly E. Babcock,Robert Hofstra,Irenaeus F. M. de Coo,Anne-Claude Tabet,Thierry J. Molina,Boris Keren,Alice Brooks,Hubert J. M. Smeets,Ulrika Marklund,Christopher T. Gordon,Stanislas Lyonnet,Jeanne Amiel,Nadege Bondurand

Journal of Clinical Investigation（2021）

引用21浏览0WOS引用

Size Matters: Large Copy Number Losses in Hirschsprung Disease Patients Reveal Genes Involved in Enteric Nervous System Development

Laura E. Kuil,Katherine C. MacKenzie,Clara S. Tang,Jonathan D. Windster,Thuy Linh Le,Anwarul Karim,Bianca M. de Graaf,Robert van der Helm,Yolande van Bever,Cornelius E. J. Sloots,Conny Meeussen,Dick Tibboel,Annelies de Klein,Rene M. H. Wijnen,Jeanne Amiel,Stanislas Lyonnet,Maria-Merce Garcia-Barcelo,Paul K. H. Tam,Maria M. Alves,Alice S. Brooks,Robert M. W. Hofstra,Erwin Brosens

PLOS genetics（2021）

引用16浏览0WOS引用

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling

Thuy-Linh Le,Yunia Sribudiani,Xiaomin Dong,Celine Huber, Chelsea Kois,Genevieve Baujat,Christopher T. Gordon, Valerie Mayne,Louise Galmiche,Valerie Serre,Nicolas Goudin,Mohammed Zarhrate,Christine Bole-Feysot,Cecile Masson,Patrick Nitschke,Frans W. Verheijen,Lynn Pais,Anna Pelet,Simon Sadedin,John A. Pugh,Natasha Shur,Susan M. White,Salima El Chehadeh,John Christodoulou,Valerie Cormier-Daire,R. M. W. Hofstra,Stanislas Lyonnet,Tiong Yang Tan,Tania Attie-Bitach,Wilhelmina S. Kerstjens-Frederikse,Jeanne Amiel,Sophie Thomas

The American Journal of Human Genetics（2020）

引用24浏览0WOS引用

Biallelic Loss-Of-Function Variations In Smo, Encoding The Key Transducer Of The Sonic Hedgehog Pathway, Cause A Broad Phenotypic Spectrum Of Hedgehogopathies

TL Le,Y Sribudiani,X Dong,C Huber, C Kois,G Baujat,CT Gordon, V Mayne,L Galmiche,V Serre,N Goudin,M Zarhrate,C Bole-Feysot,C Masson,P Nitschke,FW Verheijen,L Pais,A Pelet,S Sadedin,JA Pugh, N Shur,SM White, SE Chehadeh,J Christodoulou,V Cormier-Daire,Rmw Hofstra,S Lyonnet,TY Tan,T Attie-Bitach,WS Kerstjens-Frederikse,J Amiel,S Thomas

EUROPEAN JOURNAL OF HUMAN GENETICS（2020）

引用0浏览0引用

Size Matters: Large Copy Number Losses Reveal Novel Hirschsprung Disease Genes

Laura Kuil,Katherine C. MacKenzie,Clara S Tang,Jonathan D. Windster,Thuy Linh Le,Anwarul Karim,Bianca M. de Graaf,Robert van der Helm,Yolande van Bever,Cornelius E.J. Sloots,Conny Meeussen,Dick Tibboel,Annelies de Klein,René M. H. Wijnen,Jeanne Amiel,Stanislas Lyonnet,Maria-Mercè Garcia-Barcelo,Paul K.H. Tam,Maria M. Alves,Alice Brooks,Robert M.W. Hofstra,Erwin Brosens

medRxiv (2020)

引用4浏览0引用

Whole Exome Sequencing Coupled with Unbiased Functional Analysis Reveals New Hirschsprung Disease Genes

Hongsheng Gui,Duco Schriemer,William W. Cheng,Rajendra K. Chauhan,Guillermo Antiňolo,Courtney Berrios,Marta Bleda,Alice S. Brooks,Rutger W. W. Brouwer,Alan J. Burns,Stacey S. Cherny,Joaquin Dopazo,Bart J. L. Eggen,Paola Griseri,Binta Jalloh,Thuy-Linh Le,Vincent C. H. Lui,Berta Luzón-Toro,Ivana Matera,Elly S. W. Ngan,Anna Pelet,Macarena Ruiz-Ferrer,Pak C. Sham,Iain T. Shepherd,Man-Ting So,Yunia Sribudiani,Clara S. M. Tang,Mirjam C. G. N. van den Hout,Herma C. van der Linde,Tjakko J. van Ham,Wilfred F. J. van IJcken,Joke B. G. M. Verheij,Jeanne Amiel,Salud Borrego,Isabella Ceccherini,Aravinda Chakravarti,Stanislas Lyonnet,Paul K. H. Tam,Maria-Mercè Garcia-Barceló,Robert M. W. Hofstra

Genome biologyno. 1 (2017)

引用71浏览0WOS引用

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作者统计

#Papers: 13

#Citation: 203

H-Index: 6

G-Index: 8

Sociability: 6

Diversity: 2

Activity: 9

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