Casie A Genetti

Affiliations
  • Division of Genetics and Genomics and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.

Publications (57)

Challenging the Current Recommendations for Carrier Testing in Children.

Pediatrics
Avec: Grace E VanNoy , Amy L McGuire , Robert C Green , Alan H Beggs , Ingrid A Holm , Auteur inconnu

Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study.

Journal of medical Internet research
Avec: Jianqiao Li , Margaret A Hojlo , Sampath Chennuri , Nitin Gujral , Heather L Paterson , Kent A Shefchek , Emily L Cohn , Kara C Sewalk , Emily A Garvey , Elizabeth D Buttermore , Nickesha C Anderson , Alan H Beggs , Pankaj B Agrawal , John S Brownstein , Melissa A Haendel , Ingrid A Holm , Joseph Gonzalez-Heydrich , Catherine A Brownstein

A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.

HGG advances
Avec: Jignesh R Parikh , Asli Aykanat , Catherine A Brownstein , Klaus Schmitz-Abe , Morgan Danowski , Andrew Quitadomo , Jill A Madden , Calum Yacoubian , Richard Gain , Tessa Williams , Mary Meskell , Andrew Brown , Alison Frith , Shira Rockowitz , Piotr Sliz , Pankaj B Agrawal , Thomas Defay , Paul McDonagh , John Reynders , Sebastien Lefebvre , Alan H Beggs

X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition.

Acta neuropathologica
Avec: Jonathan R Volpatti , Mehdi M Ghahramani-Seno , Mélanie Mansat , Nesrin Sabha , Ege Sarikaya , Sarah J Goodman , Eric Chater-Diehl , Alper Celik , Emanuela Pannia , Carine Froment , Lucie Combes-Soia , Nika Maani , Kyoko E Yuki , Gaëtan Chicanne , Liis Uusküla-Reimand , Simon Monis , Sana Akhtar Alvi , Bernard Payrastre , Alan H Beggs , Carsten G Bonnemann , Francesco Muntoni , Michael D Wilson , Rosanna Weksberg , Julien Viaud , James J Dowling

medRxiv : the preprint server for health sciences
Avec: Yuyang Chen , Ruebena Dawes , Hyung Chul Kim , Sarah L Stenton , Susan Walker , Alicia Ljungdahl , Jenny Lord , Vijay S Ganesh , Jialan Ma , Alexandra C Martin-Geary , Gabrielle Lemire , Elston N D'Souza , Shan Dong , Jamie M Ellingford , David R Adams , Kirsten Allan , Madhura Bakshi , Erin E Baldwin , Seth I Berger , Jonathan A Bernstein , Natasha J Brown , Lindsay C Burrage , Kimberly Chapman , Alison G Compton , Chloe A Cunningham , Precilla D'Souza , Emmanuèle C Délot , Kerith-Rae Dias , Ellen R Elias , Carey-Anne Evans , Lisa Ewans , Kimberly Ezell , Jamie L Fraser , Lyndon Gallacher , Christina L Grant , Tobias Haack , Alma Kuechler , Seema R Lalani , Elsa Leitão , Anna Le Fevre , Richard J Leventer , Jan E Liebelt , Paul J Lockhart , Alan S Ma , Ellen F Macnamara , Taylor M Maurer , Hector R Mendez , Stephen B Montgomery , Marie-Cécile Nassogne , Serena Neumann , Melanie O'Leary , Elizabeth E Palmer , John Phillips , Georgia Pitsava , Ryan Pysar , Heidi L Rehm , Chloe M Reuter , Nicole Revencu , Angelika Riess , Rocio Rius , Lance Rodan , Tony Roscioli , Jill A Rosenfeld , Rani Sachdev , Cas Simons , Sanjay M Sisodiya , Penny Snell , Laura St Clair , Zornitza Stark , Tiong Yang Tan , Natalie B Tan , Suzanna El Temple , David R Thorburn , Cynthia J Tifft , Eloise Uebergang , Grace E VanNoy , Eric Vilain , David H Viskochil , Laura Wedd , Matthew T Wheeler , Susan M White , Monica Wojcik , Lynne A Wolfe , Zoe Wolfenson , Changrui Xiao , David Zocche , John L Rubenstein , Eirene Markenscoff-Papadimitriou , Sebastian M Fica , Diana Baralle , Christel Depienne , Daniel G MacArthur , Joanna Mm Howson , Stephan J Sanders , Anne O'Donnell-Luria , Nicola Whiffin

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 , 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

Diverse Participant Recruitment for Infant Sequencing in the BabySeq Project.

medRxiv : the preprint server for health sciences
Avec: Maya C Del Rosario , Sheyenne A Walmsley , Barbara W Harrison , Crystal T Stephens , Bethany Zettler , Greysha Rivera-Cruz , Priyal Agrawal , Amy Brower , Stephanie Chigbu , Kurt D Christensen , Richetta Givens , Nina B Gold , Inez V Reeves , Isabella Schichter , Habib Shariat , Sandra Simon , Hadley Stevens Smith , Melissa Uveges , Robert C Green , Ingrid A Holm , Stacey Pereira

Infant mortality: the contribution of genetic disorders.

Journal of perinatology : official journal of the California Perinatal Association
Avec: Monica H Wojcik , Talia S Schwartz , Katri E Thiele , Heather Paterson , Rachel Stadelmaier , Thomas E Mullen , Grace E VanNoy , Jill A Madden , Cynthia S Gubbels , Timothy W Yu , Wen-Hann Tan , Pankaj B Agrawal

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.

Archives of disease in childhood
Avec: Robert J Graham , Francesco Muntoni , Imelda Hughes , Sabrina W Yum , Nancy L Kuntz , Michele L Yang , Barry J Byrne , Suyash Prasad , Rachel Alvarez , Tmirah Haselkorn , Emma S James , Laurie B LaRusso , Mojtaba Noursalehi , Salvador Rico , Alan H Beggs

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Cole A Deisseroth , Johannes Birgmeier , Ethan E Bodle , Jennefer N Kohler , Dena R Matalon , Yelena Nazarenko , Catherine A Brownstein , Klaus Schmitz-Abe , Kelly Schoch , Heidi Cope , Rebecca Signer , Auteur inconnu , Julian A Martinez-Agosto , Vandana Shashi , Alan H Beggs , Matthew T Wheeler , Jonathan A Bernstein , Gill Bejerano

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.

American journal of human genetics
Avec: Dongxue Mao , Chloe M Reuter , Maura R Z Ruzhnikov , Anita E Beck , Emily G Farrow , Lisa T Emrick , Jill A Rosenfeld , Katherine M Mackenzie , Laurie Robak , Matthew T Wheeler , Lindsay C Burrage , Mahim Jain , Pengfei Liu , Daniel Calame , Sébastien Küry , Martin Sillesen , Klaus Schmitz-Abe , Davide Tonduti , Luigina Spaccini , Maria Iascone , Mary K Koenig , Madeline Graf , Alyssa Tran , Mercedes Alejandro , Auteur inconnu , Brendan H Lee , Isabelle Thiffault , Pankaj B Agrawal , Jonathan A Bernstein , Hugo J Bellen , Hsiao-Tuan Chao

Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome.

American journal of medical genetics. Part A
Avec: Philip M Boone , Scott Paterson , Kiana Mohajeri , Wenmiao Zhu , Derek J C Tai , Neeharika Nori , Pankaj B Agrawal , Carlos A Bacino , Weimin Bi , Michael E Talkowski , Benjamin M Hogan , Lance H Rodan

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.

American journal of medical genetics. Part A
Avec: David A Dyment , Anne O'Donnell-Luria , Pankaj B Agrawal , Zeynep Coban Akdemir , Kyrieckos A Aleck , Danny Antaki , Hind Al Sharhan , Ping-Yee B Au , Hatip Aydin , Alan H Beggs , Kaya Bilguvar , Eric Boerwinkle , Harrison Brand , Catherine A Brownstein , Steve Buyske , Bernard Chodirker , Jungmin Choi , Albert E Chudley , Carol L Clericuzio , Gerald F Cox , Cynthia Curry , Elke de Boer , Bert B A de Vries , Kathryn Dunn , Cullen M Dutmer , Eleina M England , Jill A Fahrner , Bilgen B Geckinli , Alper Gezdirici , William T Gibson , Joseph G Gleeson , Cheryl R Greenberg , April Hall , Ada Hamosh , Taila Hartley , Shalini N Jhangiani , Ender Karaca , Kristin Kernohan , Julie L Lauzon , M E Suzanne Lewis , R Brian Lowry , Francesc López-Giráldez , Tara C Matise , Jennifer McEvoy-Venneri , Brenda McInnes , Aziz Mhanni , Sixto Garcia Minaur , Jukka Moilanen , An Nguyen , Malgorzata J M Nowaczyk , Jennifer E Posey , Katrin Õunap , Davut Pehlivan , Sander Pajusalu , Lynette S Penney , Timothy Poterba , Paolo Prontera , Maria Juliana Rodovalho Doriqui , Sarah L Sawyer , Nara Sobreira , Valentina Stanley , Deniz Torun , David Wargowski , P Dane Witmer , Isaac Wong , Jinchuan Xing , Maha S Zaki , Yeting Zhang , Auteur inconnu , Auteur inconnu , Kym M Boycott , Michael J Bamshad , Deborah A Nickerson , Elizabeth E Blue , A Micheil Innes

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 , 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

Clinical Characterization of Pediatric Erythromelalgia: A Single-Center Case Series.

Children (Basel, Switzerland)
Avec: Jenny Sun , Don Daniel Ocay , Meghan Halpin , Kimberly Lobo , Dafni F T Frohman , Carolina Donado , Catherine A Brownstein , Anna Madden , Charles B Berde

Titin copy number variations associated with dominant inherited phenotypes.

Journal of medical genetics
Avec: Aurélien Perrin , Corinne Métay , Marco Savarese , Rabah Ben Yaou , German Demidov , Isabelle Nelson , Guilhem Solé , Yann Péréon , Enrico Silvio Bertini , Fabiana Fattori , Adele D'Amico , Federica Ricci , Mira Ginsberg , Andreea Seferian , Odile Boespflug-Tanguy , Laurent Servais , Françoise Chapon , Emmeline Lagrange , Karen Gaudon , Adrien Bloch , Robin Ghanem , Lucie Guyant-Maréchal , Mridul Johari , Charles Van Goethem , Michel Fardeau , Raul Juntas Morales , Minttu Marttila , Michel Koenig , Alan H Beggs , Bjarne Udd , Gisèle Bonne , Mireille Cossée

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.

European journal of human genetics : EJHG
Avec: Klaus Schmitz-Abe , Qifei Li , Samantha M Rosen , Neeharika Nori , Jill A Madden , Monica H Wojcik , Sadhana Ponnaluri , Cynthia S Gubbels , Jonathan D Picker , Anne H O'Donnell-Luria , Timothy W Yu , Olaf Bodamer , Catherine A Brownstein , Alan H Beggs , Pankaj B Agrawal

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.

Genome medicine
Avec: Francisco M De La Vega , Shimul Chowdhury , Barry Moore , Erwin Frise , Jeanette McCarthy , Edgar Javier Hernandez , Terence Wong , Kiely James , Lucia Guidugli , Pankaj B Agrawal , Catherine A Brownstein , Alan H Beggs , Britt-Sabina Löscher , Andre Franke , Braden Boone , Shawn E Levy , Katrin Õunap , Sander Pajusalu , Matt Huentelman , Keri Ramsey , Marcus Naymik , Vinodh Narayanan , Narayanan Veeraraghavan , Paul Billings , Martin G Reese , Mark Yandell , Stephen F Kingsmore

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Holly K Harris , Tojo Nakayama , Jenny Lai , Boxun Zhao , Nikoleta Argyrou , Cynthia S Gubbels , Aubrie Soucy , Victoria Suslovitch , Lance H Rodan , George E Tiller , Gaetan Lesca , Karen W Gripp , Reza Asadollahi , Ada Hamosh , Carolyn D Applegate , Peter D Turnpenny , Marleen E H Simon , Catharina M L Volker-Touw , Koen L I van Gassen , Ellen van Binsbergen , Rolph Pfundt , Thatjana Gardeitchik , Bert B A de Vries , LaDonna L Immken , Catherine Buchanan , Marcia Willing , Tomi L Toler , Emily Fassi , Laura Baker , Fleur Vansenne , Xiadong Wang , Julian L Ambrus , Madeleine Fannemel , Jennifer E Posey , Emanuele Agolini , Antonio Novelli , Anita Rauch , Paranchai Boonsawat , Christina R Fagerberg , Martin J Larsen , Maria Kibaek , Audrey Labalme , Alice Poisson , Katelyn K Payne , Laurence E Walsh , Kimberly A Aldinger , Jorune Balciuniene , Cara Skraban , Christopher Gray , Jill Murrell , Caleb P Bupp , Giulia Pascolini , Paola Grammatico , Martin Broly , Sébastien Küry , Mathilde Nizon , Iqra Ghulam Rasool , Muhammad Yasir Zahoor , Cornelia Kraus , André Reis , Muhammad Iqbal , Kevin Uguen , Severine Audebert-Bellanger , Claude Ferec , Sylvia Redon , Janice Baker , Yunhong Wu , Guiseppe Zampino , Steffan Syrbe , Ines Brosse , Rami Abou Jamra , William B Dobyns , Lilian L Cohen , Anne Blomhoff , Cyril Mignot , Boris Keren , Thomas Courtin , Pankaj B Agrawal , Alan H Beggs , Timothy W Yu

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.

American journal of human genetics
Avec: Anna R Duncan , Antonio Vitobello , Stephan C Collins , Valerie E Vancollie , Christopher J Lelliott , Lance Rodan , Jiahai Shi , Ann R Seman , Emanuele Agolini , Antonio Novelli , Paolo Prontera , Maria J Guillen Sacoto , Teresa Santiago-Sim , Aurélien Trimouille , Cyril Goizet , Mathilde Nizon , Ange-Line Bruel , Christophe Philippe , Patricia E Grant , Monica H Wojcik , Joan Stoler , Marieke F van Dooren , Saskia M Maas , Marielle Alders , Laurence Faivre , Arthur Sorlin , Grace Yoon , Binnaz Yalcin , Pankaj B Agrawal

RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes.

Molecular psychiatry
Avec: Catherine A Brownstein , Richard S Smith , Lance H Rodan , Mark P Gorman , Margaret A Hojlo , Emily A Garvey , Jianqiao Li , Kristin Cabral , Joshua J Bowen , Abhijit S Rao , Devon Carroll , Emma A Deaso , Pankaj B Agrawal , Jill A Rosenfeld , Weimin Bi , Jennifer Howe , Dimitri J Stavropoulos , Adam W Hansen , Hesham M Hamoda , Ferne Pinard , Annmarie Caracansi , Christopher A Walsh , Eugene J D'Angelo , Alan H Beggs , Mehdi Zarrei , Richard A Gibbs , Stephen W Scherer , David C Glahn , Joseph Gonzalez-Heydrich

Phenotypic Spectrum of

Neurology. Genetics
Avec: Leslie Hotchkiss Hayes , Morgane Perdomini , Asli Aykanat , Heather L Paterson , Belinda S Cowling , Christian Freitag , Alan H Beggs

Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.

American journal of medical genetics. Part A
Avec: Monica H Wojcik , Siddharth Srivastava , Pankaj B Agrawal , Tugce B Balci , Bert Callewaert , Pier Luigi Calvo , Diana Carli , Michelle Caudle , Samantha Colaiacovo , Laura Cross , Kalliope Demetriou , Katy Drazba , Marina Dutra-Clarke , Matthew Edwards , Dorothy K Grange , Scott E Hickey , Bertrand Isidor , Sébastien Küry , Herbert M Lachman , Alinoe Lavillaureix , Michael J Lyons , Carlo Marcelis , Elysa J Marco , Julian A Martinez-Agosto , Catherine Nowak , Antonio Pizzol , Marc Planes , Eloise J Prijoles , Evelise Riberi , Eric T Rush , Bianca E Russell , Rani Sachdev , Betsy Schmalz , Deborah Shears , David A Stevenson , Kate Wilson , Sandra Jansen , Bert B A de Vries , Cynthia J Curry

Parents' decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Stacey Pereira , Amanda M Gutierrez , Jill Oliver Robinson , Kurt D Christensen , Carrie L Blout Zawatsky , Rebecca L Hsu , Bethany Zettler , Melissa Kurtz Uveges , Richard B Parad , Alan H Beggs , Ingrid A Holm , Robert C Green , Amy L McGuire , Auteur inconnu

Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study.

BMJ open
Avec: Alissa M D'Gama , Sonia Hills , Jessica Douglas , Vanessa Young , Monica H Wojcik , Henry A Feldman , Timothy W Yu , Margaret G Parker , Pankaj B Agrawal , Auteur inconnu

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

Nature
Avec: Yuyang Chen , Ruebena Dawes , Hyung Chul Kim , Alicia Ljungdahl , Sarah L Stenton , Susan Walker , Jenny Lord , Gabrielle Lemire , Alexandra C Martin-Geary , Vijay S Ganesh , Jialan Ma , Jamie M Ellingford , Erwan Delage , Elston N D'Souza , Shan Dong , David R Adams , Kirsten Allan , Madhura Bakshi , Erin E Baldwin , Seth I Berger , Jonathan A Bernstein , Ishita Bhatnagar , Ed Blair , Natasha J Brown , Lindsay C Burrage , Kimberly Chapman , David J Coman , Alison G Compton , Chloe A Cunningham , Precilla D'Souza , Petr Danecek , Emmanuèle C Délot , Kerith-Rae Dias , Ellen R Elias , Frances Elmslie , Care-Anne Evans , Lisa Ewans , Kimberly Ezell , Jamie L Fraser , Lyndon Gallacher , Anne Goriely , Christina L Grant , Tobias Haack , Jenny E Higgs , Anjali G Hinch , Matthew E Hurles , Alma Kuechler , Katherine L Lachlan , Seema R Lalani , François Lecoquierre , Elsa Leitão , Anna Le Fevre , Richard J Leventer , Jan E Liebelt , Sarah Lindsay , Paul J Lockhart , Alan S Ma , Ellen F Macnamara , Sahar Mansour , Taylor M Maurer , Hector R Mendez , Kay Metcalfe , Stephen B Montgomery , Mariya Moosajee , Marie-Cécile Nassogne , Serena Neumann , Michael O'Donoghue , Melanie O'Leary , Elizabeth E Palmer , Nikhil Pattani , John Phillips , Georgia Pitsava , Ryan Pysar , Heidi L Rehm , Chloe M Reuter , Nicole Revencu , Angelika Riess , Rocio Rius , Lance Rodan , Tony Roscioli , Jill A Rosenfeld , Rani Sachdev , Charles J Shaw-Smith , Cas Simons , Sanjay M Sisodiya , Penny Snell , Laura St Clair , Zornitza Stark , Helen S Stewart , Tiong Yang Tan , Natalie B Tan , Suzanna E L Temple , David R Thorburn , Cynthia J Tifft , Eloise Uebergang , Grace E VanNoy , Pradeep Vasudevan , Eric Vilain , David H Viskochil , Laura Wedd , Matthew T Wheeler , Susan M White , Monica Wojcik , Lynne A Wolfe , Zoe Wolfenson , Caroline F Wright , Changrui Xiao , David Zocche , John L Rubenstein , Eirene Markenscoff-Papadimitriou , Sebastian M Fica , Diana Baralle , Christel Depienne , Daniel G MacArthur , Joanna M M Howson , Stephan J Sanders , Anne O'Donnell-Luria , Nicola Whiffin

A Cross-Sectional Study of Nemaline Myopathy.

Neurology
Avec: Kimberly Amburgey , Meryl Acker , Samia Saeed , Reshma Amin , Alan H Beggs , Carsten G Bönnemann , Michael Brudno , Andrei Constantinescu , Jahannaz Dastgir , Mamadou Diallo , Michael Glueck , Stacy Hewson , Courtney Hum , Minal S Jain , Michael W Lawlor , Oscar H Meyer , Leslie Nelson , Nicole Sultanum , Faiza Syed , Tuyen Tran , Ching H Wang , James J Dowling

Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials.

Annals of clinical and translational neurology
Avec: Arpana Silwal , Anna Sarkozy , Mariacristina Scoto , Deborah Ridout , Anne Schmidt , Aidan Laverty , Matilde Henriques , Luigi D'Argenzio , Marion Main , Rachael Mein , Adnan Y Manzur , Francois Abel , Fouad Al-Ghamdi , Didem Ardicli , Goknur Haliloglu , Haluk Topaloglu , Alan H Beggs , Francesco Muntoni

Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Talia S Schwartz , Jill O Robinson , Grace E VanNoy , Devan Petersen , Stacey Pereira , Shawn Fayer , Hayley A Peoples , Pankaj B Agrawal , Wendi N Betting , Ingrid A Holm , Amy L McGuire , Susan E Waisbren , Timothy W Yu , Robert C Green , Alan H Beggs , Richard B Parad , Auteur inconnu

A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.

American journal of medical genetics. Part A
Avec: Alissa M D'Gama , William J Brucker , Tian Zhang , Cynthia S Gubbels , Sacha Ferdinandusse , Jiahai Shi , Patricia Ellen Grant , Grace VanNoy , Jane Juusola , Timothy W Yu , Amy Kritzer , Pankaj B Agrawal

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.

Molecular psychiatry
Avec: Joost Kummeling , Diante E Stremmelaar , Nicholas Raun , Margot R F Reijnders , Marjolein H Willemsen , Martina Ruiterkamp-Versteeg , Marga Schepens , Calvin C O Man , Christian Gilissen , Megan T Cho , Kirsty McWalter , Margje Sinnema , James W Wheless , Marleen E H Simon , Alicia M Casey , Paulien A Terhal , Jasper J van der Smagt , Koen L I van Gassen , Pascal Joset , Angela Bahr , Katharina Steindl , Anita Rauch , Elmar Keller , Annick Raas-Rothschild , David A Koolen , Pankaj B Agrawal , Trevor L Hoffman , Nina N Powell-Hamilton , Isabelle Thiffault , Kendra Engleman , Dihong Zhou , Olaf Bodamer , Julia Hoefele , Korbinian M Riedhammer , Eva M C Schwaibold , Velibor Tasic , Dirk Schubert , Deniz Top , Rolph Pfundt , Martin R Higgs , Jamie M Kramer , Tjitske Kleefstra

Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial.

JAMA pediatrics
Avec: Stacey Pereira , Hadley Stevens Smith , Leslie A Frankel , Kurt D Christensen , Rubaiya Islam , Jill Oliver Robinson , Carrie L Blout Zawatsky , Bethany Zettler , Richard B Parad , Susan E Waisbren , Alan H Beggs , Robert C Green , Ingrid A Holm , Amy L McGuire , Auteur inconnu

ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.

European journal of human genetics : EJHG
Avec: Ange-Line Bruel , Antonio Vitobello , Isabelle Thiffault , Linda Manwaring , Marcia Willing , Pankaj B Agrawal , Allan Bayat , Thomas M Kitzler , Catherine A Brownstein , Joseph Gonzalez-Heydrich , Parul Jayakar , Jacob W Zyskind , Zehua Zhu , Clemence Vachet , Gena R Wilson , Brianna Pruniski , Anne-Marie Goyette , Yannis Duffourd , Christel Thauvin-Robinet , Christophe Philippe , Laurence Faivre

The expanding clinical and genetic spectrum of DYNC1H1-related disorders.

Brain : a journal of neurology
Avec: Birk Möller , Lena-Luise Becker , Afshin Saffari , Alexandra Afenjar , Emanuele G Coci , Rachel Williamson , Catherine Ward-Melver , Marc Gibaud , Lucie Sedláčková , Petra Laššuthová , Zuzana Libá , Markéta Vlčková , Nancy William , Eric W Klee , Ralitza H Gavrilova , Jonathan Lévy , Yline Capri , Mena Scavina , Robert Walter Körner , Zaheer Valuvullah , Claudia Weiß , Greta Marit Möller , Moritz Thiel , Margje Sinnema , Erik-Jan Kamsteeg , Sandra Donkervoort , Veronique Duboc , Khaoula Zaafrane-Khachnaoui , Nour Elkhateeb , Laila Selim , Henri Margot , Victor Marin , Claire Beneteau , Bertrand Isidor , Benjamin Cogne , Boris Keren , Benno Küsters , Alan H Beggs , Joost Nicolai , Jörg Dötsch , Anne Koy , Carsten G Bönnemann , Maja von der Hagen , Jürgen-Christoph von Kleist-Retzow , Nicol Voermans , Heinz Jungbluth , Hormos Salimi Dafsari

A Genotype/Phenotype Study of

Genes
Avec: Maria Carla Borroto , Coralie Michaud , Chloé Hudon , Pankaj B Agrawal , Katherine Agre , Carolyn D Applegate , Alan H Beggs , Hans T Bjornsson , Bert Callewaert , Mei-Jan Chen , Cynthia Curry , Orrin Devinsky , Tracy Dudding-Byth , Kelly Fagan , Candice R Finnila , Ralitza Gavrilova , Susan M Hiatt , Friedhelm Hildebrandt , Monica H Wojcik , Tjitske Kleefstra , Caroline M Kolvenbach , Bruce R Korf , Paul Kruszka , Hong Li , Jessica Litwin , Julien Marcadier , Konrad Platzer , Patrick R Blackburn , Margot R F Reijnders , Heiko Reutter , Ina Schanze , Joseph T Shieh , Cathy A Stevens , Zaheer Valivullah , Marie-José van den Boogaard , Eric W Klee , Philippe M Campeau

X-linked hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variant.

Bone
Avec: Julio Soto Barros , Sabrina I Sanchez , Kristin Cabral , Alan H Beggs , Pankaj B Agrawal , Catherine A Brownstein , Thomas O Carpenter

Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States.

Orphanet journal of rare diseases
Avec: Robert J Graham , Basil T Darras , Tmirah Haselkorn , Dan Fisher , Weston Miller , Alan H Beggs

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 , 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 , 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

Genotype‒phenotype correlation in recessive DNAJB4 myopathy.

Acta neuropathologica communications
Avec: Michio Inoue , Divya Jayaraman , Rocio Bengoechea , Ankan Bhadra , Abdulrahman A Aldeeri , Betül Turan , Rafael Adrian Pacheco-Orozco , Almundher Al-Maawali , Nadia Al Hashmi , Ayşe Gül Zamani , Emine Göktaş , Sevgi Pekcan , Hanife Tuğçe Çağlar , Heather True , Alan H Beggs , Conrad C Weihl

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Cynthia S Gubbels , Grace E VanNoy , Jill A Madden , Deborah Copenheaver , Sandra Yang , Monica H Wojcik , Nina B Gold , Joan Stoler , Richard B Parad , Sergei Roumiantsev , Olaf Bodamer , Alan H Beggs , Jane Juusola , Pankaj B Agrawal , Timothy W Yu

ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.

Annals of neurology
Avec: Rocío N Villar-Quiles , Fabio Catervi , Eva Cabet , Raul Juntas-Morales , Teresa Gidaro , Asuman Koparir , Adnan Yüksel , Sandra Coppens , Nicolas Deconinck , Emma Pierce-Hoffman , Xavière Lornage , Julien Durigneux , Jocelyn Laporte , John Rendu , Norma B Romero , Alan H Beggs , Laurent Servais , Mireille Cossée , Montse Olivé , Johann Böhm , Isabelle Duband-Goulet , Ana Ferreiro

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.

The New England journal of medicine
Avec: Jinkuk Kim , Chunguang Hu , Christelle Moufawad El Achkar , Lauren E Black , Julie Douville , Austin Larson , Mary K Pendergast , Sara F Goldkind , Eunjung A Lee , Ashley Kuniholm , Aubrie Soucy , Jai Vaze , Nandkishore R Belur , Kristina Fredriksen , Iva Stojkovska , Alla Tsytsykova , Myriam Armant , Renata L DiDonato , Jaejoon Choi , Laura Cornelissen , Luis M Pereira , Erika F Augustine , Kira Dies , Brenda Barton , Lucinda Williams , Benjamin D Goodlett , Bobbie L Riley , Amy Pasternak , Emily R Berry , Kelly A Pflock , Stephen Chu , Chantal Reed , Kimberly Tyndall , Pankaj B Agrawal , Alan H Beggs , P Ellen Grant , David K Urion , Richard O Snyder , Susan E Waisbren , Annapurna Poduri , Peter J Park , Al Patterson , Alessandra Biffi , Joseph R Mazzulli , Olaf Bodamer , Charles B Berde , Timothy W Yu

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.

Human mutation
Avec: Christoph Bachmann , Faiza Noreen , Nicol C Voermans , Primo L Schär , John Vissing , Johanna M Fock , Saskia Bulk , Benno Kusters , Steven A Moore , Alan H Beggs , Katherine D Mathews , Megan Meyer , Giovanni Meola , Rosanna Cardani , Emma Mathews , Heinz Jungbluth , Francesco Muntoni , Francesco Zorzato , Susan Treves

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.

American journal of human genetics
Avec: Ozge Ceyhan-Birsoy , Jaclyn B Murry , Kalotina Machini , Matthew S Lebo , Timothy W Yu , Shawn Fayer , Talia S Schwartz , Pankaj B Agrawal , Richard B Parad , Ingrid A Holm , Amy L McGuire , Robert C Green , Heidi L Rehm , Alan H Beggs , Auteur inconnu

De novo variants in MPP5 cause global developmental delay and behavioral changes.

Human molecular genetics
Avec: Noelle Sterling , Anna R Duncan , Raehee Park , David A Koolen , Jiahai Shi , Seo-Hee Cho , Paul J Benke , Patricia E Grant , Grace E VanNoy , Jane Juusola , Kirsty McWalter , Jillian S Parboosingh , Ryan E Lamont , Francois P Bernier , Christopher Smith , David J Harris , Alexander P A Stegmann , A Micheil Innes , Seonhee Kim , Pankaj B Agrawal

Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Monica H Wojcik , Tian Zhang , Ozge Ceyhan-Birsoy , Matthew S Lebo , Timothy W Yu , Richard B Parad , Ingrid A Holm , Heidi L Rehm , Alan H Beggs , Robert C Green , Pankaj B Agrawal , Auteur inconnu

A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings.

PLoS genetics
Avec: Qifei Li , Michal Dibus , Alicia Casey , Christina S K Yee , Sara O Vargas , Shiyu Luo , Samantha M Rosen , Jill A Madden , Jan Brabek , Catherine A Brownstein , Shideh Kazerounian , Benjamin A Raby , Klaus Schmitz-Abe , John C Kennedy , Martha P Fishman , Mary P Mullen , Joan M Taylor , Daniel Rosel , Pankaj B Agrawal

High number of candidate gene variants are identified as disease-causing in a period of 4 years.

American journal of medical genetics. Part A
Avec: Sonia Hills , Qifei Li , Jill A Madden , Catherine A Brownstein , Klaus Schmitz-Abe , Alan H Beggs , Pankaj B Agrawal

Children with Early-Onset Psychosis Have Increased Burden of Rare

Genes
Avec: Margaret A Hojlo , Merhawi Ghebrelul , Richard Smith , Shira Rockowitz , Emma Deaso , Alan H Beggs , Pankaj B Agrawal , David C Glahn , Joseph Gonzalez-Heydrich , Catherine A Brownstein

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.

American journal of human genetics
Avec: Maimuna S Paul , Anna R Duncan , Hongling Pan , Adam Jackson , Patricia E Grant , Jiahai Shi , Michele Pinelli , Nicola Brunetti-Pierri , Alexandra Garza-Flores , Dave Shahani , Russell P Saneto , Giuseppe Zampino , Chiara Leoni , Emanuele Agolini , Antonio Novelli , Ulrike Blümlein , Tobias B Haack , Wolfram Heinritz , Eva Matzker , Bader Alhaddad , Rami Abou Jamra , Tobias Bartolomaeus , Saber AlHamdan , Raphael Carapito , Bertrand Isidor , Seiamak Bahram , Alyssa Ritter , Kosuke Izumi , Ben Pode Shakked , Ortal Barel , Bruria Ben Zeev , Amber Begtrup , Deanna Alexis Carere , Sureni V Mullegama , Timothy Blake Palculict , Daniel G Calame , Katharina Schwan , Alicia R P Aycinena , Rasa Traberg , Auteur inconnu , Sofia Douzgou , Harrison Pirt , Naila Ismayilova , Siddharth Banka , Hsiao-Tuan Chao , Pankaj B Agrawal

Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders.

European journal of human genetics : EJHG
Avec: Qifei Li , Rohan Agrawal , Klaus Schmitz-Abe , Melissa A Fernandes , Noah L Fryou , Jill A Madden , Catherine A Brownstein , Edward C Smith , Farrah Rajabi , Alan H Beggs , Pankaj B Agrawal

An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations.

NPJ genomic medicine
Avec: Frances O Flanagan , Alexander M Holtz , Sara O Vargas , Klaus Schmitz-Abe , Alicia Casey , John C Kennedy , Benjamin A Raby , Mary P Mullen , Martha P Fishman , Pankaj B Agrawal

Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.

American journal of human genetics
Avec: Robert C Green , Nidhi Shah , Timothy Yu , Bethany Zettler , Melissa K Uveges , Ozge Ceyhan-Birsoy , Matthew S Lebo , Stacey Pereira , Pankaj B Agrawal , Richard B Parad , Amy L McGuire , Kurt D Christensen , Talia S Schwartz , Heidi L Rehm , Ingrid A Holm , Alan H Beggs , Auteur inconnu

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 , 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

The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants.

American journal of human genetics
Avec: Hadley Stevens Smith , Bethany Zettler , Madison R Hickingbotham , Tanner F Coleman , Matthew Lebo , Anna Nagy , Hana Zouk , Lisa Mahanta , Kurt D Christensen , Stacey Pereira , Nidhi D Shah , Nina B Gold , Sheyenne Walmsley , Sarita Edwards , Ramin Homayouni , Graham P Krasan , Hakon Hakonarson , Carol R Horowitz , Bruce D Gelb , Bruce R Korf , Amy L McGuire , Ingrid A Holm , Robert C Green

Genotype‒phenotype correlation in recessive DNAJB4 myopathy.

Research square
Avec: Michio Inoue , Divya Jayaraman , Rocio Bengoechea , Ankan Bhadra , Abdulrahman A Aldeeri , Betül Turan , Rafael Adrian Pacheco-Orozco , Almundher Al-Maawali , Nadia Al Hashmi , Ayşe Gül Zamani , Emine Göktaş , Sevgi Pekcan , Hanife Tuğçe Çağlar , Heather True , Alan H Beggs , Conrad C Weihl

Réseau de co-auteurs

Alan H Beggs 39 collaborations
Pankaj B Agrawal 35 collaborations
Catherine A Brownstein 14 collaborations
None None 13 collaborations
Monica H Wojcik 12 collaborations
Jill A Madden 11 collaborations
Ingrid A Holm 10 collaborations
Timothy W Yu 10 collaborations
Grace E VanNoy 9 collaborations
Robert C Green 9 collaborations
Heidi L Rehm 9 collaborations
Klaus Schmitz-Abe 8 collaborations
Anne O'Donnell-Luria 8 collaborations
Amy L McGuire 7 collaborations
Richard B Parad 7 collaborations
Vijay S Ganesh 6 collaborations
Gabrielle Lemire 6 collaborations
Lyndon Gallacher 6 collaborations
Sander Pajusalu 6 collaborations
Katrin Õunap 6 collaborations
Sandra Donkervoort 6 collaborations
Carsten G Bönnemann 6 collaborations
Stacey Pereira 6 collaborations
Francesco Muntoni 5 collaborations
Sarah L Stenton 5 collaborations
Tiong Yang Tan 5 collaborations
Susan M White 5 collaborations
Daniel G MacArthur 5 collaborations
Ana Töpf 5 collaborations
Volker Straub 5 collaborations
Emily O'Heir 5 collaborations
Friedhelm Hildebrandt 5 collaborations
Harrison Brand 5 collaborations
Bethany Zettler 5 collaborations
Kurt D Christensen 5 collaborations
Cynthia S Gubbels 5 collaborations
Joseph Gonzalez-Heydrich 4 collaborations
Jonathan A Bernstein 4 collaborations
Melanie O'Leary 4 collaborations
Jill A Rosenfeld 4 collaborations
Zornitza Stark 4 collaborations
Matthew T Wheeler 4 collaborations
Hana Snow 4 collaborations
Moriel Singer-Berk 4 collaborations
Shirlee Shril 4 collaborations
Ronen Schneider 4 collaborations
Vijay G Sankaran 4 collaborations
Alba Sanchis-Juan 4 collaborations
Gianina Ravenscroft 4 collaborations
Eric A Pierce 4 collaborations
Lynn Pais 4 collaborations
Ikeoluwa Osei-Owusu 4 collaborations
Emily Groopman 4 collaborations
Julia Goodrich 4 collaborations
Joseph G Gleeson 4 collaborations
Emily Evangelista 4 collaborations
Eleina England 4 collaborations
Stephanie DiTroia 4 collaborations
Katherine R Chao 4 collaborations
Kinga M Bujakowska 4 collaborations
Talia S Schwartz 4 collaborations
Qifei Li 4 collaborations
Olaf Bodamer 4 collaborations
Jiahai Shi 4 collaborations
Margaret A Hojlo 3 collaborations
Lindsay C Burrage 3 collaborations
Chloe M Reuter 3 collaborations
Lance Rodan 3 collaborations
Rani Sachdev 3 collaborations
Maha S Zaki 3 collaborations
Sandra T Cooper 3 collaborations
Christina Austin-Tse 3 collaborations
Rami Abou Jamra 3 collaborations
Nina B Gold 3 collaborations
Hadley Stevens Smith 3 collaborations
Sébastien Küry 3 collaborations
Isabelle Thiffault 3 collaborations
Michael E Talkowski 3 collaborations
Lance H Rodan 3 collaborations
Bert B A de Vries 3 collaborations
Isaac Wong 3 collaborations
Jack Fu 3 collaborations
Emanuele Agolini 3 collaborations
Antonio Novelli 3 collaborations
Anna R Duncan 3 collaborations
Patricia E Grant 3 collaborations
Christopher A Walsh 3 collaborations
Bertrand Isidor 3 collaborations
Susan E Waisbren 3 collaborations
Jane Juusola 3 collaborations
Heinz Jungbluth 3 collaborations
Ozge Ceyhan-Birsoy 3 collaborations
Matthew S Lebo 3 collaborations
Jianqiao Li 2 collaborations
Heather L Paterson 2 collaborations
Emily A Garvey 2 collaborations
Asli Aykanat 2 collaborations
Shira Rockowitz 2 collaborations
James J Dowling 2 collaborations
Yuyang Chen 2 collaborations
Ruebena Dawes 2 collaborations
Hyung Chul Kim 2 collaborations
Susan Walker 2 collaborations
Alicia Ljungdahl 2 collaborations
Jenny Lord 2 collaborations
Jialan Ma 2 collaborations
Alexandra C Martin-Geary 2 collaborations
Elston N D'Souza 2 collaborations
Shan Dong 2 collaborations
Jamie M Ellingford 2 collaborations
David R Adams 2 collaborations
Kirsten Allan 2 collaborations
Madhura Bakshi 2 collaborations
Erin E Baldwin 2 collaborations
Seth I Berger 2 collaborations
Natasha J Brown 2 collaborations
Kimberly Chapman 2 collaborations
Alison G Compton 2 collaborations
Chloe A Cunningham 2 collaborations
Precilla D'Souza 2 collaborations
Emmanuèle C Délot 2 collaborations
Kerith-Rae Dias 2 collaborations
Ellen R Elias 2 collaborations
Lisa Ewans 2 collaborations
Kimberly Ezell 2 collaborations
Jamie L Fraser 2 collaborations
Christina L Grant 2 collaborations
Tobias Haack 2 collaborations
Alma Kuechler 2 collaborations
Seema R Lalani 2 collaborations
Elsa Leitão 2 collaborations
Anna Le Fevre 2 collaborations
Richard J Leventer 2 collaborations
Jan E Liebelt 2 collaborations
Paul J Lockhart 2 collaborations
Alan S Ma 2 collaborations
Ellen F Macnamara 2 collaborations
Taylor M Maurer 2 collaborations
Hector R Mendez 2 collaborations
Stephen B Montgomery 2 collaborations
Marie-Cécile Nassogne 2 collaborations
Serena Neumann 2 collaborations
Elizabeth E Palmer 2 collaborations
John Phillips 2 collaborations
Georgia Pitsava 2 collaborations
Ryan Pysar 2 collaborations
Nicole Revencu 2 collaborations
Angelika Riess 2 collaborations
Rocio Rius 2 collaborations
Tony Roscioli 2 collaborations
Cas Simons 2 collaborations
Sanjay M Sisodiya 2 collaborations
Penny Snell 2 collaborations
Laura St Clair 2 collaborations
Natalie B Tan 2 collaborations
David R Thorburn 2 collaborations
Cynthia J Tifft 2 collaborations
Eloise Uebergang 2 collaborations
Eric Vilain 2 collaborations
David H Viskochil 2 collaborations
Laura Wedd 2 collaborations
Monica Wojcik 2 collaborations
Lynne A Wolfe 2 collaborations
Zoe Wolfenson 2 collaborations
Changrui Xiao 2 collaborations
David Zocche 2 collaborations
John L Rubenstein 2 collaborations
Eirene Markenscoff-Papadimitriou 2 collaborations
Sebastian M Fica 2 collaborations
Diana Baralle 2 collaborations
Christel Depienne 2 collaborations
Stephan J Sanders 2 collaborations
Nicola Whiffin 2 collaborations
Wathone Win 2 collaborations
Ben Weisburd 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
Konrad Platzer 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
Alysia Lovgren 2 collaborations
Jordan P Lerner-Ellis 2 collaborations
Jasmine Lin 2 collaborations
Nigel Laing 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
Samantha J Bryen 2 collaborations
Samantha M Baxter 2 collaborations
Tobias Bartolomaeus 2 collaborations
Michael Talkowski 2 collaborations
Robert J Graham 2 collaborations
Tmirah Haselkorn 2 collaborations
Julian A Martinez-Agosto 2 collaborations
Hsiao-Tuan Chao 2 collaborations
Neeharika Nori 2 collaborations
Weimin Bi 2 collaborations
Cynthia Curry 2 collaborations
Eleina M England 2 collaborations
Ada Hamosh 2 collaborations
Jennifer E Posey 2 collaborations
Paolo Prontera 2 collaborations
A Micheil Innes 2 collaborations
Charles B Berde 2 collaborations
Marco Savarese 2 collaborations
Laurent Servais 2 collaborations
Bjarne Udd 2 collaborations
Mireille Cossée 2 collaborations
Samantha M Rosen 2 collaborations
Aubrie Soucy 2 collaborations
Carolyn D Applegate 2 collaborations
Marleen E H Simon 2 collaborations
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Rolph Pfundt 2 collaborations
Marcia Willing 2 collaborations
Anita Rauch 2 collaborations
Mathilde Nizon 2 collaborations
Boris Keren 2 collaborations
Antonio Vitobello 2 collaborations
Ange-Line Bruel 2 collaborations
Christophe Philippe 2 collaborations
Joan Stoler 2 collaborations
Laurence Faivre 2 collaborations
Kristin Cabral 2 collaborations
David C Glahn 2 collaborations
Bert Callewaert 2 collaborations
Jill Oliver Robinson 2 collaborations
Carrie L Blout Zawatsky 2 collaborations
Alissa M D'Gama 2 collaborations
Sonia Hills 2 collaborations
Anna Sarkozy 2 collaborations
Shawn Fayer 2 collaborations
Tian Zhang 2 collaborations
Grace VanNoy 2 collaborations
Margot R F Reijnders 2 collaborations
Kirsty McWalter 2 collaborations
Margje Sinnema 2 collaborations
David A Koolen 2 collaborations
Tjitske Kleefstra 2 collaborations
Eric W Klee 2 collaborations
Erik-Jan Kamsteeg 2 collaborations
Bruce R Korf 2 collaborations
Kathryn Russell 2 collaborations
Samantha Baxter 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
Carolyn Le 2 collaborations
Elliott H Sherr 2 collaborations
Emily Place 2 collaborations
Mark D Fleming 2 collaborations
Martin R Pollak 2 collaborations
Kirsten A Donald 2 collaborations
Zandre Bruwer 2 collaborations
Nigel G Laing 2 collaborations
Michio Inoue 2 collaborations
Divya Jayaraman 2 collaborations
Rocio Bengoechea 2 collaborations
Ankan Bhadra 2 collaborations
Abdulrahman A Aldeeri 2 collaborations
Betül Turan 2 collaborations
Rafael Adrian Pacheco-Orozco 2 collaborations
Almundher Al-Maawali 2 collaborations
Nadia Al Hashmi 2 collaborations
Ayşe Gül Zamani 2 collaborations
Emine Göktaş 2 collaborations
Sevgi Pekcan 2 collaborations
Hanife Tuğçe Çağlar 2 collaborations
Heather True 2 collaborations
Conrad C Weihl 2 collaborations
Xavière Lornage 2 collaborations
Jocelyn Laporte 2 collaborations
Norma B Romero 2 collaborations
Nicol C Voermans 2 collaborations
Alicia Casey 2 collaborations
Sara O Vargas 2 collaborations
Benjamin A Raby 2 collaborations
John C Kennedy 2 collaborations
Martha P Fishman 2 collaborations
Mary P Mullen 2 collaborations
Sampath Chennuri 1 collaboration
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