Emily O'Heir

Affiliations
  • Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

Publications (23)

Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.

American journal of medical genetics. Part A
Avec: Laura Keehan , Isabel Haviland , Yoel Gofin , Lindsay C Swanson , Christelle Moufawad El Achkar , John Schreiber , Grace E VanNoy , Emily O'Heir , Anne O'Donnell-Luria , Richard Alan Lewis , Pilar Magoulas , Alyssa Tran , Mahshid S Azamian , Hsiao-Tuan Chao , Lisa Pham , Rodney C Samaco , Sarah Elsea , Erin Thorpe , Akanchha Kesari , Denise Perry , Brendan Lee , Seema R Lalani , Jill A Rosenfeld , Heather E Olson , Lindsay C Burrage , Auteur inconnu

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.

medRxiv : the preprint server for health sciences
Avec: 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 Argili , Carolyn Le , Elliott H Sherr , Joseph 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 Bönnemann , Lyndon Gallacher , Zornitza Stark , Tiong Tan , Susan M White , Ana Töpf , Volker Straub , Mark D Fleming , Martin R Pollak , Katrin Õunap , 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

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.

American journal of human genetics
Avec: 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 Bönnemann , Lyndon Gallacher , Zornitza Stark , Tiong Yang Tan , Susan M White , Ana Töpf , Volker Straub , Mark D Fleming , Martin R Pollak , Katrin Õunap , 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

seqr: A web-based analysis and collaboration tool for rare disease genomics.

Human mutation
Avec: Lynn S Pais , Hana Snow , Ben Weisburd , Shifa Zhang , Samantha M Baxter , Stephanie DiTroia , Emily O'Heir , Eleina England , Katherine R Chao , Gabrielle Lemire , Ikeoluwa Osei-Owusu , Grace E VanNoy , Michael Wilson , Kevin Nguyen , Harindra Arachchi , William Phu , Matthew Solomonson , Stacy Mano , Melanie O'Leary , Alysia Lovgren , Lawrence Babb , Christina A Austin-Tse , Heidi L Rehm , Daniel G MacArthur , Anne O'Donnell-Luria

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.

medRxiv : the preprint server for health sciences
Avec: Monica H Wojcik , Gabrielle Lemire , Maha S Zaki , Mariel Wissman , Wathone Win , Sue White , Ben Weisburd , Leigh B Waddell , Jeffrey M Verboon , Grace E VanNoy , Ana Töpf , Tiong Yang Tan , Volker Straub , Sarah L Stenton , Hana Snow , Moriel Singer-Berk , Josh Silver , Shirlee Shril , Eleanor G Seaby , Ronen Schneider , Vijay G Sankaran , Alba Sanchis-Juan , Kathryn A Russell , Karit Reinson , Gianina Ravenscroft , Eric A Pierce , Emily M Place , Sander Pajusalu , Lynn Pais , Katrin Õunap , Ikeoluwa Osei-Owusu , Volkan Okur , Kaisa Teele Oja , Melanie O'Leary , Emily O'Heir , Chantal Morel , Rhett G Marchant , Brian E Mangilog , Jill A Madden , Daniel MacArthur , Alysia Lovgren , Jordan P Lerner-Ellis , Jasmine Lin , Nigel Laing , Friedhelm Hildebrandt , Emily Groopman , Julia Goodrich , Joseph G Gleeson , Roula Ghaoui , Casie A Genetti , Hanna T Gazda , Vijay S Ganesh , Mythily Ganapathy , Lyndon Gallacher , Jack Fu , Emily Evangelista , Eleina England , Sandra Donkervoort , Stephanie DiTroia , Sandra T Cooper , Wendy K Chung , John Christodoulou , Katherine R Chao , Liam D Cato , Kinga M Bujakowska , Samantha J Bryen , Harrison Brand , Carsten Bonnemann , Alan H Beggs , Samantha M Baxter , Pankaj B Agrawal , Michael Talkowski , Chrissy Austin-Tse , Heidi L Rehm , Anne O'Donnell-Luria

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: 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 , André 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

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.

Brain : a journal of neurology
Avec: Semra Hiz Kurul , Yavuz Oktay , Ana Töpf , Nóra Zs Szabó , Serdal Güngör , Ahmet Yaramis , Ece Sonmezler , Leslie Matalonga , Uluc Yis , Katherine Schon , Ida Paramonov , İpek Polat Kalafatcilar , Fei Gao , Aliz Rieger , Nur Arslan , Elmasnur Yilmaz , Burcu Ekinci , Pinar Pulat Edem , Mahmut Aslan , Bilge Özgör , Angela Lochmüller , Ashwati Nair , Emily O'Heir , Alysia K Lovgren , Auteur inconnu , Reza Maroofian , Henry Houlden , Kiran Polavarapu , Andreas Roos , Juliane S Müller , Denisa Hathazi , Patrick F Chinnery , Steven Laurie , Sergi Beltran , Hanns Lochmüller , Rita Horvath

Journal of medical genetics
Avec: Audrey Schalk , Margot A Cousin , Nikita R Dsouza , Thomas D Challman , Karen E Wain , Zoe Powis , Kelly Minks , Aurélien Trimouille , Eulalie Lasseaux , Didier Lacombe , Chloé Angelini , Vincent Michaud , Julien Van-Gils , Nino Spataro , Anna Ruiz , Elizabeth Gabau , Elliot Stolerman , Camerun Washington , Ray Louie , Brendan C Lanpher , Jennifer L Kemppainen , Micheil Innes , Frank Kooy , Marije Meuwissen , Alice Goldenberg , Francois Lecoquierre , Gabriella Vera , Karin E M Diderich , Beth Sheidley , Christelle Moufawad El Achkar , Meredith Park , Fadi F Hamdan , Jacques L Michaud , Ann J Lewis , Christiane Zweier , André Reis , Matias Wagner , Heike Weigand , Hubert Journel , Boris Keren , Sandrine Passemard , Cyril Mignot , Koen van Gassen , Eva H Brilstra , Gina Itzikowitz , Emily O'Heir , Jake Allen , Kirsten A Donald , Bruce Richard Korf , Tammi Skelton , Michelle Thompson , Nathaniel H Robin , Natasha L Rudy , William B Dobyns , Kimberly Foss , Yuri Alexander Zarate , Katherine A Bosanko , Yves Alembik , Benjamin Durand , Frederic Tran Mau-Them , Emmanuelle Ranza , Xavier Blanc , Stylianos E Antonarakis , Kirsty McWalter , Erin Torti , Francisca Millan , Amy Dameron , Mari Tokita , Michael T Zimmermann , Eric W Klee , Amelie Piton , Benedicte Gerard

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.

Brain : a journal of neurology
Avec: Edgard Verdura , Agustí Rodríguez-Palmero , Valentina Vélez-Santamaria , Laura Planas-Serra , Irene de la Calle , Miquel Raspall-Chaure , Agathe Roubertie , Mehdi Benkirane , Francesco Saettini , Lisa Pavinato , Giorgia Mandrile , Melanie O'Leary , Emily O'Heir , Estibaliz Barredo , Almudena Chacón , Vincent Michaud , Cyril Goizet , Montserrat Ruiz , Agatha Schlüter , Isabelle Rouvet , Julia Sala-Coromina , Chiara Fossati , Maria Iascone , Francesco Canonico , Anna Marcé-Grau , Precilla de Souza , David R Adams , Carlos Casasnovas , Heidi L Rehm , Heather C Mefford , Luis González Gutierrez-Solana , Alfredo Brusco , Michel Koenig , Alfons Macaya , Aurora Pujol

Phenotype and genetic analysis of data collected within the first year of NeuroDev.

Neuron
Avec: Patricia Kipkemoi , Heesu Ally Kim , Bjorn Christ , Emily O'Heir , Jake Allen , Christina Austin-Tse , Samantha Baxter , Harrison Brand , Sam Bryant , Nick Buser , Victoria de Menil , Emma Eastman , Serini Murugasen , Alice Galvin , Martha Kombe , Alfred Ngombo , Beatrice Mkubwa , Paul Mwangi , Collins Kipkoech , Alysia Lovgren , Daniel G MacArthur , Brigitte Melly , Katini Mwangasha , Alicia Martin , Lethukuthula L Nkambule , Alba Sanchis-Juan , Moriel Singer-Berk , Michael E Talkowski , Grace VanNoy , Celia van der Merwe , Auteur inconnu , Charles Newton , Anne O'Donnell-Luria , Amina Abubakar , Kirsten A Donald , Elise B Robinson

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Research square
Avec: David Picketts , Ghayda Mirzaa , Keqin Yan , Raissa Relator , Sara Timpano , Binnaz Yalcin , Stephan Collins , Alban Ziegler , Emily Pao , Nora Oyama , Elise Brischoux-Boucher , Juliette Piard , Kristin Monaghan , Maria Guillen Sacoto , William Dobyns , Kristen Park , Daniel Fernández-Mayoralas , Alberto Fernández-Jaén , Parul Jayakar , Alfredo Brusco , Vincenzo Antona , Elisa Giorgio , Malin Kvarnung , Bertrand Isidor , Solène Conrad , Benjamin Cogné , Wallid Deb , K E Stuurman , Katalin Sterbova , Noor Smal , Sarah Weckhuysen , Renske Oegema , Micheil Innes , Maeson Latsko , Tawfeg Ben-Omran , Rebecca Yeh , Michael Kruer , Somayeh Bakhtiari , Antigone Papavasiliou , Sébastien Moutton , Sophie Nambot , Sirisak Chanprasert , Sarah Paolucci , Kait Miller , Barbara Burton , Katherine Kim , Emily O'Heir , Zandre Bruwer , Kirsten Donald , Tjitske Kleefstra , Amy Goldstein , Brad Angle , Kelly Bontempo , Peter Miny , Pascal Joset , Florence Demurger , Emma Hobson , Lewis Pang , Lori Carpenter , Dong Li , Dominique Bonneau , Bekim Sadikovic

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.

Molecular autism
Avec: Beryl Royer-Bertrand , Marine Jequier Gygax , Katarina Cisarova , Jill A Rosenfeld , Jennifer A Bassetti , Oana Moldovan , Emily O'Heir , Lindsay C Burrage , Jake Allen , Lisa T Emrick , Emma Eastman , Camille Kumps , Safdar Abbas , Geraldine Van Winckel , Auteur inconnu , Nadia Chabane , Elaine H Zackai , Sebastien Lebon , Beth Keena , Elizabeth J Bhoj , Muhammad Umair , Dong Li , Kirsten A Donald , Andrea Superti-Furga

Ehlers-Danlos/myopathy overlap syndrome caused by a large de novo deletion in COL12A1.

American journal of medical genetics. Part A
Avec: Sandra Coppens , Laurence Desmyter , Manuel Koch , Semra Özcelik , Emily O'Heir , Patrick Van Bogaert , Catheline Vilain , Florence Christiaens

Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.

medRxiv : the preprint server for health sciences
Avec: Sarah L Stenton , Melanie O'Leary , Gabrielle Lemire , Grace E VanNoy , Stephanie DiTroia , Vijay S Ganesh , Emily Groopman , Emily O'Heir , Brian Mangilog , Ikeoluwa Osei-Owusu , Lynn S Pais , Jillian Serrano , Moriel Singer-Berk , Ben Weisburd , Michael Wilson , Christina Austin-Tse , Marwa Abdelhakim , Azza Althagafi , Giulia Babbi , Riccardo Bellazzi , Samuele Bovo , Maria Giulia Carta , Rita Casadio , Pieter-Jan Coenen , Federica De Paoli , Matteo Floris , Manavalan Gajapathy , Robert Hoehndorf , Julius O B Jacobsen , Thomas Joseph , Akash Kamandula , Panagiotis Katsonis , Cyrielle Kint , Olivier Lichtarge , Ivan Limongelli , Yulan Lu , Paolo Magni , Tarun Karthik Kumar Mamidi , Pier Luigi Martelli , Marta Mulargia , Giovanna Nicora , Keith Nykamp , Vikas Pejaver , Yisu Peng , Thi Hong Cam Pham , Maurizio S Podda , Aditya Rao , Ettore Rizzo , Vangala G Saipradeep , Castrense Savojardo , Peter Schols , Yang Shen , Naveen Sivadasan , Damian Smedley , Dorian Soru , Rajgopal Srinivasan , Yuanfei Sun , Uma Sunderam , Wuwei Tan , Naina Tiwari , Xiao Wang , Yaqiong Wang , Amanda Williams , Elizabeth A Worthey , Rujie Yin , Yuning You , Daniel Zeiberg , Susanna Zucca , Constantina Bakolitsa , Steven E Brenner , Stephanie M Fullerton , Predrag Radivojac , Heidi L Rehm , Anne O'Donnell-Luria

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Kerith-Rae Dias , Rupendra Shrestha , Deborah Schofield , Carey-Anne Evans , Emily O'Heir , Ying Zhu , Futao Zhang , Krystle Standen , Ben Weisburd , Sarah L Stenton , Alba Sanchis-Juan , Harrison Brand , Michael E Talkowski , Alan Ma , Sondy Ghedia , Meredith Wilson , Sarah A Sandaradura , Janine Smith , Benjamin Kamien , Anne Turner , Madhura Bakshi , Lesley C Adès , David Mowat , Matthew Regan , George McGillivray , Ravi Savarirayan , Susan M White , Tiong Yang Tan , Zornitza Stark , Natasha J Brown , Luis A Pérez-Jurado , Emma Krzesinski , Matthew F Hunter , Lauren Akesson , Andrew Paul Fennell , Alison Yeung , Tiffany Boughtwood , Lisa J Ewans , Jennifer Kerkhof , Christopher Lucas , Louise Carey , Hugh French , Melissa Rapadas , Igor Stevanovski , Ira W Deveson , Corrina Cliffe , George Elakis , Edwin P Kirk , Tracy Dudding-Byth , Janice Fletcher , Rebecca Walsh , Mark A Corbett , Thessa Kroes , Jozef Gecz , Cliff Meldrum , Simon Cliffe , Meg Wall , Sebastian Lunke , Kathryn North , David J Amor , Michael Field , Bekim Sadikovic , Michael F Buckley , Anne O'Donnell-Luria , Tony Roscioli

Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets.

medRxiv : the preprint server for health sciences
Avec: Ben Weisburd , Rakshya Sharma , Villem Pata , Tiia Reimand , Vijay S Ganesh , Christina Austin-Tse , Ikeoluwa Osei-Owusu , Emily O'Heir , Melanie O'Leary , Lynn Pais , Seth A Stafki , Audrey L Daugherty , Carsten G Bönnemann , Sandra Donkervoort , Göknur Haliloğlu , Peter B Kang , Gianina Ravenscroft , Nigel Laing , Hamish S Scott , Ana Töpf , Volker Straub , Sander Pajusalu , Katrin Õunap , Grace Tiao , Heidi L Rehm , Anne O'Donnell-Luria

Genome Sequencing for Diagnosing Rare Diseases.

The New England journal of medicine
Avec: Monica H Wojcik , Gabrielle Lemire , Eva Berger , Maha S Zaki , Mariel Wissmann , Wathone Win , Susan M White , Ben Weisburd , Dagmar Wieczorek , Leigh B Waddell , Jeffrey M Verboon , Grace E VanNoy , Ana Töpf , Tiong Yang Tan , Steffen Syrbe , Vincent Strehlow , Volker Straub , Sarah L Stenton , Hana Snow , Moriel Singer-Berk , Josh Silver , Shirlee Shril , Eleanor G Seaby , Ronen Schneider , Vijay G Sankaran , Alba Sanchis-Juan , Kathryn A Russell , Karit Reinson , Gianina Ravenscroft , Maximilian Radtke , Denny Popp , Tilman Polster , Konrad Platzer , Eric A Pierce , Emily M Place , Sander Pajusalu , Lynn Pais , Katrin Õunap , Ikeoluwa Osei-Owusu , Henry Opperman , Volkan Okur , Kaisa Teele Oja , Melanie O'Leary , Emily O'Heir , Chantal F Morel , Andreas Merkenschlager , Rhett G Marchant , Brian E Mangilog , Jill A Madden , Daniel MacArthur , Alysia Lovgren , Jordan P Lerner-Ellis , Jasmine Lin , Nigel Laing , Friedhelm Hildebrandt , Julia Hentschel , Emily Groopman , Julia Goodrich , Joseph G Gleeson , Roula Ghaoui , Casie A Genetti , Janina Gburek-Augustat , Hanna T Gazda , Vijay S Ganesh , Mythily Ganapathi , Lyndon Gallacher , Jack M Fu , Emily Evangelista , Eleina England , Sandra Donkervoort , Stephanie DiTroia , Sandra T Cooper , Wendy K Chung , John Christodoulou , Katherine R Chao , Liam D Cato , Kinga M Bujakowska , Samantha J Bryen , Harrison Brand , Carsten G Bönnemann , Alan H Beggs , Samantha M Baxter , Tobias Bartolomaeus , Pankaj B Agrawal , Michael Talkowski , Christina Austin-Tse , Rami Abou Jamra , Heidi L Rehm , Anne O'Donnell-Luria

Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG.

Brain & development
Avec: C Paketci , P Edem , S Hiz , E Sonmezler , D Soydemir , G Sarikaya Uzan , Y Oktay , E O'Heir , S Beltran , S Laurie , A Töpf , H Lochmuller , R Horvath , U Yis

A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents.

American journal of medical genetics. Part A
Avec: Andrea Gangfuß , Hanns Lochmüller , Ana Töpf , Emily O'Heir , Rita Horvath , Heike Kölbel , Bernd Schweiger , Ulrike Schara-Schmidt , Andreas Roos

Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement.

The Journal of pathology
Avec: Andrea Gangfuß , Artur Czech , Andreas Hentschel , Ute Münchberg , Rita Horvath , Ana Töpf , Emily O'Heir , Hanns Lochmüller , Florian Stehling , Cordula Kiewert , Albert Sickmann , Alma Kuechler , Frank J Kaiser , Heike Kölbel , Jon Christiansen , Ulrike Schara-Schmidt , Andreas Roos

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Lance H Rodan , Rebecca C Spillmann , Harley T Kurata , Shawn M Lamothe , Jasmine Maghera , Rami Abou Jamra , Anna Alkelai , Stylianos E Antonarakis , Isis Atallah , Omer Bar-Yosef , Frédéric Bilan , Kathrine Bjorgo , Xavier Blanc , Patrick Van Bogaert , Yoav Bolkier , Lindsay C Burrage , Björn U Christ , Jorge L Granadillo , Patricia Dickson , Kirsten A Donald , Christèle Dubourg , Aviva Eliyahu , Lisa Emrick , Kendra Engleman , Michaela Veronika Gonfiantini , Jean-Marc Good , Judith Kalser , Chiara Kloeckner , Guus Lachmeijer , Marina Macchiaiolo , Francesco Nicita , Sylvie Odent , Emily O'Heir , Xilma Ortiz-Gonzalez , Marta Pacio-Miguez , María Palomares-Bralo , Loren Pena , Konrad Platzer , Mathieu Quinodoz , Emmanuelle Ranza , Jill A Rosenfeld , Eliane Roulet-Perez , Avni Santani , Fernando Santos-Simarro , Ben Pode-Shakked , Cara Skraban , Rachel Slaugh , Andrea Superti-Furga , Isabelle Thiffault , Richard H van Jaabrsveld , Marie Vincent , Hong-Gang Wang , Pia Zacher , Auteur inconnu , Eric Rush , Geoffrey S Pitt , Ping Yee Billie Au , Vandana Shashi

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.

Nature genetics
Avec: Ana Töpf , Dan Cox , Irina T Zaharieva , Valeria Di Leo , Jaakko Sarparanta , Per Harald Jonson , Ian M Sealy , Andrei Smolnikov , Richard J White , Anna Vihola , Marco Savarese , Munise Merteroglu , Neha Wali , Kristen M Laricchia , Cristina Venturini , Bas Vroling , Sarah L Stenton , Beryl B Cummings , Elizabeth Harris , Chiara Marini-Bettolo , Jordi Diaz-Manera , Matt Henderson , Rita Barresi , Jennifer Duff , Eleina M England , Jane Patrick , Sundos Al-Husayni , Valerie Biancalana , Alan H Beggs , Istvan Bodi , Shobhana Bommireddipalli , Carsten G Bönnemann , Anita Cairns , Mei-Ting Chiew , Kristl G Claeys , Sandra T Cooper , Mark R Davis , Sandra Donkervoort , Corrie E Erasmus , Mahmoud R Fassad , Casie A Genetti , Carla Grosmann , Heinz Jungbluth , Erik-Jan Kamsteeg , Xavière Lornage , Wolfgang N Löscher , Edoardo Malfatti , Adnan Manzur , Pilar Martí , Tiziana E Mongini , Nuria Muelas , Atsuko Nishikawa , Anne O'Donnell-Luria , Narumi Ogonuki , Gina L O'Grady , Emily O'Heir , Stéphanie Paquay , Rahul Phadke , Beth A Pletcher , Norma B Romero , Meyke Schouten , Snehal Shah , Izelle Smuts , Yves Sznajer , Giorgio Tasca , Robert W Taylor , Allysa Tuite , Peter Van den Bergh , Grace VanNoy , Nicol C Voermans , Julia V Wanschitz , Elizabeth Wraige , Kimihiko Yoshimura , Emily C Oates , Osamu Nakagawa , Ichizo Nishino , Jocelyn Laporte , Juan J Vilchez , Daniel G MacArthur , Anna Sarkozy , Heather J Cordell , Bjarne Udd , Elisabeth M Busch-Nentwich , Francesco Muntoni , Volker Straub

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.

Human genomics
Avec: Sarah L Stenton , Melanie C O'Leary , Gabrielle Lemire , Grace E VanNoy , Stephanie DiTroia , Vijay S Ganesh , Emily Groopman , Emily O'Heir , Brian Mangilog , Ikeoluwa Osei-Owusu , Lynn S Pais , Jillian Serrano , Moriel Singer-Berk , Ben Weisburd , Michael W Wilson , Christina Austin-Tse , Marwa Abdelhakim , Azza Althagafi , Giulia Babbi , Riccardo Bellazzi , Samuele Bovo , Maria Giulia Carta , Rita Casadio , Pieter-Jan Coenen , Federica De Paoli , Matteo Floris , Manavalan Gajapathy , Robert Hoehndorf , Julius O B Jacobsen , Thomas Joseph , Akash Kamandula , Panagiotis Katsonis , Cyrielle Kint , Olivier Lichtarge , Ivan Limongelli , Yulan Lu , Paolo Magni , Tarun Karthik Kumar Mamidi , Pier Luigi Martelli , Marta Mulargia , Giovanna Nicora , Keith Nykamp , Vikas Pejaver , Yisu Peng , Thi Hong Cam Pham , Maurizio S Podda , Aditya Rao , Ettore Rizzo , Vangala G Saipradeep , Castrense Savojardo , Peter Schols , Yang Shen , Naveen Sivadasan , Damian Smedley , Dorian Soru , Rajgopal Srinivasan , Yuanfei Sun , Uma Sunderam , Wuwei Tan , Naina Tiwari , Xiao Wang , Yaqiong Wang , Amanda Williams , Elizabeth A Worthey , Rujie Yin , Yuning You , Daniel Zeiberg , Susanna Zucca , Constantina Bakolitsa , Steven E Brenner , Stephanie M Fullerton , Predrag Radivojac , Heidi L Rehm , Anne O'Donnell-Luria

Réseau de co-auteurs

Anne O'Donnell-Luria 12 collaborations
Ana Töpf 9 collaborations
Heidi L Rehm 9 collaborations
Ikeoluwa Osei-Owusu 8 collaborations
Gabrielle Lemire 7 collaborations
Moriel Singer-Berk 7 collaborations
Christina Austin-Tse 7 collaborations
Stephanie DiTroia 7 collaborations
Vijay S Ganesh 7 collaborations
Kirsten A Donald 7 collaborations
Ben Weisburd 7 collaborations
Grace E VanNoy 6 collaborations
Alba Sanchis-Juan 6 collaborations
Emily Groopman 6 collaborations
Sandra Donkervoort 6 collaborations
Volker Straub 6 collaborations
Harrison Brand 6 collaborations
Melanie O'Leary 6 collaborations
Sarah L Stenton 6 collaborations
None None 5 collaborations
Katherine R Chao 5 collaborations
Eleina England 5 collaborations
Lynn Pais 5 collaborations
Hana Snow 5 collaborations
Casie A Genetti 5 collaborations
Alan H Beggs 5 collaborations
Carsten G Bönnemann 5 collaborations
Katrin Õunap 5 collaborations
Sander Pajusalu 5 collaborations
Gianina Ravenscroft 5 collaborations
Daniel G MacArthur 5 collaborations
Julia Goodrich 4 collaborations
Monica H Wojcik 4 collaborations
Emily Evangelista 4 collaborations
Shirlee Shril 4 collaborations
Ronen Schneider 4 collaborations
Friedhelm Hildebrandt 4 collaborations
Vijay G Sankaran 4 collaborations
Jill A Madden 4 collaborations
Pankaj B Agrawal 4 collaborations
Kinga M Bujakowska 4 collaborations
Eric A Pierce 4 collaborations
Lyndon Gallacher 4 collaborations
Susan M White 4 collaborations
Michael E Talkowski 4 collaborations
Tiong Yang Tan 4 collaborations
Alysia Lovgren 4 collaborations
Jill A Rosenfeld 3 collaborations
Lindsay C Burrage 3 collaborations
Samantha Baxter 3 collaborations
Jack Fu 3 collaborations
Elliott H Sherr 3 collaborations
Zornitza Stark 3 collaborations
Zandre Bruwer 3 collaborations
Joseph G Gleeson 3 collaborations
Lynn S Pais 3 collaborations
Samantha M Baxter 3 collaborations
Nigel Laing 3 collaborations
Sandra T Cooper 3 collaborations
Andreas Roos 3 collaborations
Hanns Lochmüller 3 collaborations
Rita Horvath 3 collaborations
Jake Allen 3 collaborations
Christelle Moufawad El Achkar 2 collaborations
Kathryn Russell 2 collaborations
Isaac Wong 2 collaborations
Mugdha Singh 2 collaborations
Yulia Mostovoy 2 collaborations
Steve Huang 2 collaborations
Kiran Garimella 2 collaborations
Samantha L Kirkham 2 collaborations
Jennifer E Neil 2 collaborations
Diane D Shao 2 collaborations
Christopher A Walsh 2 collaborations
Carolyn Le 2 collaborations
Emily Place 2 collaborations
Mark D Fleming 2 collaborations
Martin R Pollak 2 collaborations
Nigel G Laing 2 collaborations
Emanuela Argilli 2 collaborations
Michael Wilson 2 collaborations
Maha S Zaki 2 collaborations
Wathone Win 2 collaborations
Leigh B Waddell 2 collaborations
Jeffrey M Verboon 2 collaborations
Josh Silver 2 collaborations
Eleanor G Seaby 2 collaborations
Kathryn A Russell 2 collaborations
Karit Reinson 2 collaborations
Emily M Place 2 collaborations
Volkan Okur 2 collaborations
Kaisa Teele Oja 2 collaborations
Rhett G Marchant 2 collaborations
Brian E Mangilog 2 collaborations
Daniel MacArthur 2 collaborations
Jordan P Lerner-Ellis 2 collaborations
Jasmine Lin 2 collaborations
Roula Ghaoui 2 collaborations
Hanna T Gazda 2 collaborations
Wendy K Chung 2 collaborations
John Christodoulou 2 collaborations
Liam D Cato 2 collaborations
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