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Anne O’Donnell‐Luria

the broad institute of mit and harvard

61H指数
274论文数
3.8W被引数
收录论文 105
发表时间
De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling常染色体隐性条件相关的全新变异:病例系列及其对遗传检测和咨询的启示
err2026-09-01
err0
PREAI
errNiehaus, Annie D.; Bonner, Devon E.; Carter, Jennefer; Avello, Kayleigh; Jacob, Natalie; Neu, Matthew B.; Mendez, Rodrigo; Qiao, Wanqiong; Scott, Stuart A.; Levy, Rebecca J.; Mattas, Lauren; Schymick, Jennifer; Van Andel, Michael; Muntoni, Francesco; Mueller, Juliane; Sarkozy, Anna; DiTroia, Stephanie; O'Leary, Melanie; Neale, Ashana; O'Donnell-Luria, Anne; Toro, Camilo; Wolfe, Lynne A.; Martinez-Agosto, Julian A.; Montgomery, Stephen B.; Wheeler, Matthew T.; Bernstein, Jonathan A.; Tise, Christina G.
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Utility of Face2Gene’s DeepGestalt and D-Score applications in paediatric neurodevelopmental disorders in South AfricaFace2Gene的DeepGestalt和D-Score应用程序在南非儿科神经发育障碍中的实用性
err2026-08-27
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errOAAI
errZandrè Bruwer; Hendrike Mc Donald; Michal R. Zieff; Emma Eastman; Brigitte Melly; Rizqa Sulaiman-Bardien; Karen Fieggen; Shahida Moosa; Emily O’Heir; Christina Austin Tse; Ikeoluwa Osei-Owusu; Alice Galvin; Celia van der Merwe; Anne O’Donnell-Luria; Charles R. Newton; Amina Abubakar; Elise B. Robinson; Kirsten A. Donald
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Automated reanalysis of genomic data for rare disease diagnostics at scale大规模罕见疾病诊断的基因组数据自动化再分析
err2026-06-24
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errOAAI
errMatthew J. Welland; K. D. Ahlquist; Paul De Fazio; Christina Austin-Tse; Lynn Pais; Laura Wedd; Samantha Bryen; Rocio Rius; Michael Franklin; Caitlin Morrison; Giles Hall; Laura Gauthier; Alex Bloemendal; David I. Francis; Andrew J. Mallett; Amali Mallawaarachchi; Paul J. Lockhart; Richard Leventer; Ingrid E. Scheffer; Katherine B. Howell; Karin S. Kassahn; Hamish S. Scott; Julie McGaughran; John Christodoulou; David R. Thorburn; Bryony A. Thompson; Chirag V. Patel; Greg Smith; Anne O’Donnell-Luria; Simon Sadedin; Heidi L. Rehm; Sebastian Lunke; Jeremiah Wander; Kaitlin E. Samocha; Cas Simons; Daniel G. MacArthur; Zornitza Stark
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Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiessnRNA基因的系统分析揭示了显性和隐性发育性和癫痫性脑病中常见的RNU2-2变异
err2026-03-30
err0
errOAAI
errElsa Leitão; Amandine Santini; Benjamin Cogne; Miriam Essid; Maria Athanasiadou; Christy W. LaFlamme; Pierre Marijon; Virginie Bernard; Kevin Jousselin; Nicolas Chatron; Giulia Barcia; Boris Keren; Cyril Mignot; Perrine Charles; Thomas Besnard; Robin Paluch; Jean-Madeleine de Sainte Agathe; Edith P. Almanza Fuerte; Soham Sengupta; Mathieu Milh; Francis Ramond; Talia Allan; Isabelle An; Camila Araujo; Stéphanie Arpin; Christina Austin-Tse; Stéphane Auvin; Sarah Baer; Nadia Bahi-Buisson; Mads Bak; Magalie Barth; Stéphanie Baulac; Nathalie Bednarek-Weirauch; Matthias Begemann; Mark F. Bennett; Uriel Bensabath; Stéphane Bézieau; Rakia Bhouri; Margaux Biehler; Trine Bjørg Hammer; Julie Bogoin; Emilie Bonanno; Simon Boussion; Céline Bris; Adelaide Brosseau-Beauvir; Ange-Line Bruel; Audrey Briand-Suleau; Julien Buratti; Tristan Celse; Pascal Chambon; Nicole Chemaly; Bertrand Chesneau; Estelle Colin; Maxime Colmard; Cindy Colson; Solène Conrad; Thomas Courtin; Isabelle Creveaux; Anne-Charlotte Cullier; Louis T. Dang; Anne de Saint Martin; Caroline de Vanssay de Blavous Legendre; Bénédicte Demeer; Anne-Sophie Denommé-Pichon; Philine Diekhoff; Stephanie DiTroia; Martine Doco-Fenzy; Christèle Dubourg; Charlotte Dubucs; Stéphanie Ducreux; Louis Dufour; Romain Duquet; Benjamin Durand; Salima El Chehadeh; Miriam Elbracht; Laurence Faivre; Marie Faoucher; Anne Faudet; Sylvie Forlani; Mélanie Fradin; Pauline Gaignard; Benjamin Ganne; Aurore Garde; Justine Géraud; Deepak Gill; Alice Goldenberg; David Grabli; Coraline Grisel; Sophie Gueden; Paul Gueguen; Anne-Marie Guerrot; Agnès Guichet; Tobias B. Haack; Nina Härting; Martin Georg Häusler; Solveig Heide; Theresia Herget; Bénédicte Héron; Delphine Héron; Johanna Herwig; Mathilde Heulin; Tess Holling; Clara Houdayer; Bertrand Isidor; Aurélia Jacquette; Louis Januel; Nolwenn Jean-Marçais; Frank J. Kaiser; Sabine Kaya; Chontelle King; Marina Konyukh; Florian Kraft; Jeremias Krause; Rémi Kirstetter; Alma Kuechler; Ingo Kurth; Kerstin Kutsche; Audrey Labalme; Jean-Serene Laloy; Vincent Laugel; Floriane Le Bricquir; Anne-Sophie Lèbre; Marine Lebrun; Eric Leguern; Jonathan Levy; Nico Lieffering; Stanislas Lyonnet; Kevin Lüthy; Sian M. W. Macdonald; Lamisse Mansour-Hendili; Julien Maraval; Iris Marquardt; Carolin Mattausch; Sandra Mercier; Olfa Messaoud; Godelieve Morel; Jérémie Mortreux; Arnold Munnich; Rima Nabbout; Sophie Nambot; Vincent Navarro; Ashana Neale; Laetitia Nguyen; Mathilde Nizon; Frédérique Nowak; Melanie C. O’Leary; Sylvie Odent; Naomi Meave Ojeda; Valérie Olin; Simone Olivieri; Katrin Õunap; Lynn S. Pais; Eleni Panagiotakaki; Olivier Patat; Laurence Perrin-Sabourin; Florence Petit; Christophe Philippe; Amélie Piton; Marc Planes; Céline Poirsier; Antoine Pouzet; Clément Prouteau; Sylvia Quéméner-Redon; Mathilde Renaud; Anne-Claire Richard; Marlène Rio; Clotilde Rivier; Florence Robin-Renaldo; Paul Rollier; Massimiliano Rossi; Agathe Roubertie; Valentin Ruault; Maïlys Rupin-Mas; Pascale Saugier-Veber; Aline Saunier; Russell Saneto; Elisabeth Sarrazin; Catherine Sarret; Elise Schaefer; Caroline Schluth-Bolard; Amy Schneider; Isabell Schumann; Vladimir B. Seplyarskiy; Stephanie Spranger; Thomas Smol; Marc Sturm; Shamil R. Sunyaev; Brian Sperelakis-Beedham; Sarah L. Stenton; Friedrich Stock; Mylène Tharreau; Deniz Torun; Joseph Toulouse; Harshini Thiyagarajah; Stéphanie Valence; Sophie Valleix; Julien Van-Gils; Laurent Villard; Dorothée Ville; Nathalie Villeneuve; Antonio Vitobello; Aurélie Waernessyckle; Jan Wagner; Yvonne Weber; Dagmar Wieczorek; Tom Witkowski; Manya Yadavilli; Tony Yammine; Khaoula Zaafrane-Khachnaoui; Maha S. Zaki; Alban Ziegler; Nuria C. Bramswig; Alban Lermine; Gael Nicolas; Joseph G. Gleeson; Lynette G. Sadleir; Michael S. Hildebrand; Ingrid E. Scheffer; Nicola Whiffin; Anne O’Donnell-Luria; Heather C. Mefford; Pierre Blanc; Julien Thevenon; Camille Charbonnier; Clément Charenton; Christel Depienne; Gaetan Lesca; Caroline Nava
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Equity-focused implementation to enhance access to rare disease genomic research and understand diverse perspectives以公平为重点的实施,以增强对罕见病基因组研究的访问并理解不同视角
err2026-01-01
err0
errOAAI
errMartinez, Eva; Serrano, Jillian; Abouhala, Siwaar; Neale, Ashana; VanNoy, Grace; Rehm, Heidi L.; O'Leary, Melanie; O'Donnell-Luria, Anne; Wojcik, Monica H.
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Neuroimaging Findings in Carbonic Anhydrase VA Deficiency: A Case Series Highlighting Diagnostic and Prognostic Patterns in a Potentially Reversible Mitochondrial Dysfunction碳酸酐酶VA缺乏症的神经影像学发现:一项强调潜在可逆性线粒体功能障碍中诊断和预后模式的病例系列研究
err2025-12-23
err0
PREAI
errFragoso, Diego Cardoso; Al-Ajmi, Eiman; Cardenas, Agustin M.; Quijada-Fraile, Pilar; Biswas, Asthik; Sudhakar, Sniya; D'Arco, Felice; Mankad, Kshitij; Al-Thihli, Khalid; Bodamer, Olaf; O'Donnell-Luria, Anne; Yang, Edward; Rodan, Lance; Al-Murshedi, Fathiya; Alves, Cesar Augusto P. F.
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Interpreting the functional impact of genetic variants: The need for context qualifiers解读基因变异的功能影响:需要背景限定因素
err2025-12-01
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PREAI
errSimone Martinelli; Hélène Cavé; Alessandro De Luca; Marina DiStefano; Rachel Karchin; Ana Clara Lugones; Anne O’Donnell-Luria; Deborah I. Ritter; David Tamborero; Michael Y. Tolstorukov; Paulo Vidal Campregher; Marco Tartaglia; Dmitriy Sonkin
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GREGoR: accelerating genomics for rare diseasesGREGoR:加速罕见病基因组学研究
errNature
IF48.5
err2025-11-12
err0
PREAI
errMoez Dawood; Ben Heavner; Marsha M. Wheeler; Rachel A. Ungar; Jonathan LoTempio; Laurens Wiel; Seth Berger; Jonathan A. Bernstein; Jessica X. Chong; Emmanuèle C. Délot; Evan E. Eichler; James R. Lupski; Ali Shojaie; Michael E. Talkowski; Alex H. Wagner; Chia-Lin Wei; Christopher Wellington; Matthew T. Wheeler; Claudia M. B. Carvalho; Richard A. Gibbs; Casey A. Gifford; Susanne May; Danny E. Miller; Heidi L. Rehm; Kaitlin E. Samocha; Fritz J. Sedlazeck; Eric Vilain; Anne O’Donnell-Luria; Jennifer E. Posey; Lisa H. Chadwick; Michael J. Bamshad; Stephen B. Montgomery
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GENETIC RE-EVALUATION OF SDS-LIKE AND NEUTROPENIA CONDITIONS
err2025-11-01
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errOAAI
errReed, Helen D.; Brnich, Sarah; Gudera, Jonas; Ditroia, Stephanie; O'donnell-Luria, Anne; Li, Meng-Ju; Yang, Hermann; Brundige, Karyn; Loveless, Sara; Cheng, Leah; Andresen, Felicia; Fleming, Mark; Myers, Kasiani; Shimamura, Akiko
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Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database探索基因组聚合数据库中超过80万人的临床相关变异的穿透性
err2025-10-31
err0
errOAAI
errSanna Gudmundsson; Moriel Singer-Berk; Sarah L. Stenton; Julia K. Goodrich; Michael W. Wilson; Jonah Einson; Nicholas A. Watts; Tuuli Lappalainen; Heidi L. Rehm; Daniel G. MacArthur; Anne O’Donnell-Luria
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Transcriptome-wide outlier approach identifies individuals with minor spliceopathies转录组范围离群值方法识别具有微小剪接病变的个体
err2025-09-19
err0
errOAAI
errTaylor M. Arriaga; Rodrigo Mendez; Rachel A. Ungar; Devon E. Bonner; Dena R. Matalon; Gabrielle Lemire; Pagé C. Goddard; Evin M. Padhi; Alexander M. Miller; Jonathan V. Nguyen; Jialan Ma; Kevin S. Smith; Stuart A. Scott; Linda Liao; Zena Ng; Shruti Marwaha; Guney Bademci; Stephanie A. Bivona; Mustafa Tekin; Jonathan A. Bernstein; Stephen B. Montgomery; Anne O’Donnell-Luria; Matthew T. Wheeler; Vijay S. Ganesh
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HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell ModelsHCN2相关神经发育障碍:患者数据和爪蟾细胞模型数据
err2025-06-05
err0
errOAAI
errClara Houdayer MSc, MD; A. Marie Phillips PhD; Marie Chabbert PhD; Jennifer Bourreau BS; Reza Maroofian PhD; Henry Houlden MD; Kay Richards PhD; Nebal Waill Saadi MD; Eliška Dad'ová MS; Patrick Van Bogaert MD, PhD; Mailys Rupin MD; Boris Keren MD; Perrine Charles MD, PhD; Thomas Smol MD, PhD; Audrey Riquet MD; Lynn Pais MS; Anne O'Donnell-Luria MD, PhD; Grace E. VanNoy MS; Allan Bayat MD, PhD; Rikke S Møller PhD; Kern Olofsson MD; Rami Abou Jamra MD; Steffen Syrbe MD, PhD; Majed Dasouki MD; Laurie H. Seaver MD; Jennifer A. Sullivan MS; Vandana Shashi MBBS, MD; Fowzan S. Alkuraya MD; Alexis F. Poss MS; J. Edward Spence MD; Rhonda E. Schnur MD; Ian C. Forster PhD; Chaseley E. Mckenzie MS; Cas Simons PhD; Min Wang PhD; Penny Snell MGenCouns; Kavitha Kothur MD, PhD; Michael Buckley MD; Tony Roscioli MD, PhD; Noha Elserafy MD; Benjamin Dauriat MD; Vincent Procaccio MD, PhD; Daniel Henrion PharmD, PhD; Guy Lenaers PhD; Estelle Colin MD, PhD; Nienke E. Verbeek MD, PhD; Koen L. Van Gassen MD, PhD; Claire Legendre PhD; Dominique Bonneau MD, PhD; Christopher A. Reid PhD; Katherine B. Howell MBBS, PhD; Alban Ziegler MD, PhD; Christian Legros PhD
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Predicting expression-altering promoter mutations with deep learning利用深度学习预测改变表达量的启动子突变
errScience
IF45.8
err2025-05-29
err0
PREAI
errKishore Jaganathan; Nicole Ersaro; Gherman Novakovsky; Yuchuan Wang; Terena James; Jeremy Schwartzentruber; Petko Fiziev; Irfahan Kassam; Fan Cao; Johann Hawe; Henry Cavanagh; Ashley Lim; Grace Png; Jeremy McRae; Abhimanyu Banerjee; Arvind Kumar; Jacob Ulirsch; Yan Zhang; Francois Aguet; Pierrick Wainschtein; Laksshman Sundaram; Adriana Salcedo; Sofia Kyriazopoulou Panagiotopoulou; Delasa Aghamirzaie; Evin Padhi; Ziming Weng; Shan Dong; Damian Smedley; Mark Caulfield; Anne O’Donnell-Luria; Heidi L. Rehm; Stephan J. Sanders; Anshul Kundaje; Stephen B. Montgomery; Mark T. Ross; Kyle Kai-How Farh
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ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migrationDel-Pozo-Rodriguez J, Tilly P, Lecat R, Vaca HR, Mosser L, Brivio E, et al. ADAT3变体破坏了ADAT tRNA脱氨酶复合物的活性并损害神经元迁移。Brain: J Neurol. (2025) 148:3407–21. doi: 10.1093/brain/awaf109
errBrain
IF11.7
err2025-03-22
err0
errOAAI
errJordi Del-Pozo-Rodriguez; Peggy Tilly; Romain Lecat; Hugo Rolando Vaca; Laureline Mosser; Elena Brivio; Till Balla; Marina Vitoria Gomes; Elizabeth Ramos-Morales; Noémie Schwaller; Thalia Salinas-Giegé; Grace VanNoy; Eleina M England; Alysia Kern Lovgren; Melanie O’Leary; Maya Chopra; Naomi Meave Ojeda; Mehran Beiraghi Toosi; Atieh Eslahi; Masoome Alerasool; Majid Mojarrad; Lynn S Pais; Rebecca C Yeh; Dustin L Gable; Mais O Hashem; Firdous Abdulwahab; Muath Rakiz Alqurashi; Loai Z Sbeih; Omar Abu Adas Blanco; Renad Abu Khater; Gabriela Oprea; Aboulfazl Rad; Hamad Alzaidan; Hesham Aldhalaan; Ehab Tous; Afaf Alsagheir; Mohammed Alowain; Abdullah Tamim; Khowlah Alfayez; Amal Alhashem; Aisha Alnuzha; Mona Kamel; Bashayer S Al-Awam; Walaa Elnaggar; Nihal Almenabawy; Anne O'Donnell-Luria; Jennifer E Neil; Joseph G Gleeson; Christopher A Walsh; Fowzan S Alkuraya; Lama AlAbdi; Nour Elkhateeb; Laila Selim; Siddharth Srivastava; Danny D Nedialkova; Laurence Drouard; Christophe Romier; Efil Bayam; Juliette D Godin
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Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays
err2025-03-01
err0
PREAI
errJurgens, Julie A.; Ruiz, Paola M. Matos; King, Jessica; Foster, Emma E.; Berube, Lindsay; Chan, Wai-Man; Barry, Brenda J.; Jeong, Raehoon; Rothman, Elisabeth; Whitman, Mary C.; MacKinnon, Sarah; Rivera-Quiles, Cristina; Pratt, Brandon M.; Easterbrooks, Teresa; Mensching, Fiona M.; Di Gioia, Silvio Alessandro; Pais, Lynn; England, Eleina M.; de Berardinis, Teresa; Magli, Adriano; Koc, Feray; Asakawa, Kazuhide; Kawakami, Koichi; O'Donnell-Luria, Anne; Hunter, David G.; Robson, Caroline D.; Bulyk, Martha L.; Engle, Elizabeth C.
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Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers
err2025-02-12
err0
errOAAI
errChen, Yile; Lee, Kyoungyeul; Woo, Junwoo; Kim, Dong-wook; Keum, Changwon; Babbi, Giulia; Casadio, Rita; Martelli, Pier Luigi; Savojardo, Castrense; Manfredi, Matteo; Shen, Yang; Sun, Yuanfei; Katsonis, Panagiotis; Lichtarge, Olivier; Pejaver, Vikas; Seward, David J.; Kamandula, Akash; Bakolitsa, Constantina; Brenner, Steven E.; Radivojac, Predrag; O'Donnell-Luria, Anne; Mooney, Sean D.; Jain, Shantanu
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Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL
err2025-02-01
err0
errOAAI
errCarbonell, Elizabeth; Stenton, Sarah L.; Ganesh, Vijay S.; Ma, Jialan; Vannoy, Grace E.; Pais, Lynn; Gaitanis, John N.; O'Leary, Melanie C.; Rehm, Heidi L.; O'Donnell-Luria, Anne
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Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection推进长读纳米孔基因组组装和精确变异呼吁罕见疾病检测
err2025-02-01
err1
PREAI
errNegi, Shloka; Stenton, Sarah L.; Berger, Seth I.; Canigiula, Paolo; Mcnulty, Brandy; Violich, Ivo; Gardner, Joshua; Hillaker, Todd; O'Rourke, Sara M.; O'Leary, Melanie C.; Carbonell, Elizabeth; Austin-Tse, Christina; Lemire, Gabrielle; Serrano, Jillian; Mangilog, Brian; Vannoy, Grace; Kolmogorov, Mikhail; Vilain, Eric; O'Donnell-Luria, Anne; Delot, Emmanuele; Miga, Karen H.; Monlong, Jean; Paten, Benedict
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