Anne H O'Donnell-Luria - Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA

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Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database

Sanna Gudmundsson,Moriel Singer-Berk,Sarah L Stenton,Julia K Goodrich,Michael W Wilson,Jonah Einson,Nicholas A Watts,Genome Aggregation Database Consortium,Tuuli Lappalainen,Heidi L Rehm,Daniel G MacArthur,Anne O'Donnell-Luria

bioRxiv : the preprint server for biology (2024)

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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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124P Hidden in Plain Sight: Genome Reanalysis to Identify an Intragenic Novel Variant in the SMN Locus in a Patient with an Undiagnosed Lower Motor Neuron Disease

G. Haliloğlu, S. Donkervoort,B. Weisburd,S. Öz Yıldız,S. Ceylaner,L. Pais,A. O'Donnell-Luria, C. Bönnemann

Neuromuscular Disorders（2024）

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Heterozygous Loss-of-function SMC3 Variants Are Associated with Variable Growth and Developmental Features

Morad Ansari,Kamli N. W. Faour,Akiko Shimamura,Graeme Grimes, Emeline M. Kao,Erica R. Denhoff,Ana Blatnik,Daniel Ben-Isvy,Lily Wang,Benjamin M. Helm,Helen Firth,Amy M. Breman,Emilia K. Bijlsma,Aiko Iwata-Otsubo,Thomy J. L. de Ravel,Vincent Fusaro,Alan Fryer,Keith Nykamp,Lara G. Stuhn,Tobias B. Haack,G. Christoph Korenke,Panayioti Constantinou, Kinga M. Bujakowksa,Karen J. Low,Emily Place,Jennifer Humberson,Melanie P. Napier,Jessica Hoffman,Jane Juusola,Matthew A. Deardorff,Wanqing Shao,Shira Rockowitz,Ian Krantz,Maninder Kaur,Sarah Raible, Victoria Dortenzio,Sabine Kliesch,Moriel Singer-Berk,Emily Groopman,Stephanie DiTroia,Sonia Ballal,Siddharth Srivastava, Kathrin Rothfelder,Saskia Biskup,Jessica Rzasa,Jennifer Kerkhof,Haley McConkey,Bekim Sadikovic,Sarah Hilton,Siddharth Banka,Frank Tuettelmann,Donald F. Conrad,Anne O'Donnell-Luria,Michael E. Talkowski,David R. Fitzpatrick,Philip M. Boone

HUMAN GENETICS AND GENOMICS ADVANCESno. 2 (2024)

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Mitochondrial DNA Variant Detection in over 4000 Rare Disease Families by the Systematic Analysis of Exome, Genome, and RNA Sequencing Data

Sarah Stenton,Kristen M. Laricchia, Sushma Chaluvadi,Nicole J. Lake,Monkol Lek,Mark Fleming,Dean Campagna,Eric Pierce,Kinga Bujakowska,Emily Place,Heidi Rehm,Anne O'Donnell-Luria

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 20-21

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Exome Copy Number Variant Detection, Analysis and Classification in a Large Cohort of Families with Undiagnosed Rare Genetic Disease

Gabrielle Lemire,Alba Sanchis-Juan,Kathryn Russell,Samantha Baxter,Katherine R. Chao,Moriel Singer-Berk,Emily Groopman,Isaac Wong,Eleina England,Julia Goodrich,Lynn Pais,Christina Austin-Tse,Stephanie DiTroia,Emily O'Heir,Vijay S. Ganesh,Monica H. Wojcik,Emily Evangelista,Hana Snow,Ikeoluwa Osei-Owusu,Jack Fu, Mugdha Singh,Yulia Mostovoy, Steve Huang,Kiran Garimella,Samantha L. Kirkham,Jennifer E. Neil,Diane D. Shao,Christopher A. Walsh,Emanuela Argilli, Carolyn Le,Elliott H. Sherr,Joseph G. Gleeson,Shirlee Shril,Ronen Schneider,Friedhelm Hildebrandt,Vijay G. Sankaran,Jill A. Madden,Casie A. Genetti,Alan H. Beggs,Pankaj B. Agrawal,Kinga M. Bujakowska,Emily Place,Eric A. Pierce,Sandra Donkervoort,Carsten G. Boennemann,Lyndon Gallacher,Zornitza Stark,Tiong Yang Tan,Susan M. White,Ana Toepf,Volker Straub,Mark D. Fleming,Martin R. Pollak,Katrin Ounap,Sander Pajusalu,Kirsten A. Donald,Zandre Bruwer,Gianina Ravenscroft,Nigel G. Laing,Daniel G. MacArthur,Heidi L. Rehm,Michael E. Talkowski,Harrison Brand,Anne O'Donnell-Luria

AMERICAN JOURNAL OF HUMAN GENETICSno. 5 (2024): 863-876

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Improving Transparency of Computational Tools for Variant Effect Prediction

Rachel Karchin,Predrag Radivojac,Anne O'Donnell-Luria,Marc S. Greenblatt,Michael Y. Tolstorukov,Dmitriy Sonkin

Nature Genetics（2024）

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P138: Evaluating the Impact of Gnomad V4 on Genetic Prevalence Estimates*

Samantha Baxter,Moriel Singer-Berk,Kathryn Russell,Mutaz Amin, Carmen Glaze,Riley Grant, Josephine Lee,Nick Watts, Michael Wilson,Heidi Rehm,Anne O'Donnell-Luria

Genetics in Medicine Open (2024): 101035

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