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Anne O’Donnell‐Luria

massachusetts general hospital

61H-index
272Paper Count
3.8WCitation Count
Published Papers 103
Publication Date
Automated reanalysis of genomic data for rare disease diagnostics at scale
err2026-06-24
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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 encephalopathies
err2026-03-30
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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
err2026-01-01
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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
err2025-12-23
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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
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 diseases
errNature
IF48.5
err2025-11-12
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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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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
err2025-10-31
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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
err2025-09-19
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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 Models
err2025-06-05
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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
errScience
IF45.8
err2025-05-29
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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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<i>ADAT3</i> variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration
errBrain
IF11.7
err2025-03-22
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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
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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
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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
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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
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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Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations
err2024-11-01
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errOAAI
errStenton, Sarah L.; Pejaver, Vikas; Bergquist, Timothy; Biesecker, Leslie G.; Byrne, Alicia B.; Nadeau, Emily A. W.; Greenblatt, Marc S.; Harrison, Steven M.; Tavtigian, Sean, V; Radivojac, Predrag; Brenner, Steven E.; O'Donnell-Luria, Anne
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Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene
err2024-10-24
err1
PREAI
errGanesh, Vijay S.; Riquin, Kevin; Chatron, Nicolas; Yoon, Esther; Lamar, Kay-Marie; Aziz, Miriam C.; Monin, Pauline; O'Leary, Melanie C.; Goodrich, Julia K.; Garimella, Kiran V.; England, Eleina; Weisburd, Ben; Aguet, Francois; Bacino, Carlos A.; Murdock, David R.; Dai, Hongzheng; Rosenfeld, Jill A.; Emrick, Lisa T.; Ketkar, Shamika; Sarusi, Yael; Sanlaville, Damien; Kayani, Saima; Broadbent, Brian; Pengam, Alisee; Isidor, Bertrand; Bezieau, Stephane; Cogne, Benjamin; Macarthur, Daniel G.; Ulitsky, Igor; Carvill, Gemma L.; O'Donnell-Luria, Anne
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