Hayk Barseghyan

Affiliations

Center for Genetics Medicine Research, Children's National Hospital, Washington, DC, USA.
Center for Genomics and Precision Medicine, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA.

Publications (17)

Selection, presentism, and pluralist history.

Studies in history and philosophy of science

Avec: Hakob Barseghyan

Optical genome mapping identifies a novel pediatric embryonal tumor with a ZNF532::NUTM1 fusion.

The Journal of pathology

Avec: Miriam Bornhorst , Augustine Eze , Surajit Bhattacharya , Ethan Putnam , M Isabel Almira-Suarez , Christopher Rossi , Madhuri Kambhampati , Miguel Almalvez , Mariam Barseghyan , Nicole Del Risco , David Dotson , Joyce Turner , John S Myseros , Eric Vilain , Roger J Packer , Javad Nazarian , Brian Rood ,

Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.

Molecular genetics & genomic medicine

Avec: Heidi Cope , Surajit Bhattacharya , Yulong Fu , Nicole Hoppman , Cherisse Marcou , Nicole Walley , Catherine Rehder , Kristen Deak , Anna Alkelai , Auteur inconnu , Eric Vilain , Vandana Shashi

Translating genomics to the clinical diagnosis of disorders/differences of sex development.

Current topics in developmental biology

Avec: Abhinav Parivesh , Emmanuèle Délot , Eric Vilain

Beyond the exome: what's next in diagnostic testing for Mendelian conditions.

ArXiv

Avec: Monica H Wojcik , Chloe M Reuter , Shruti Marwaha , Medhat Mahmoud , Michael H Duyzend , Bo Yuan , Philip M Boone , Emily E Groopman , Emmanuèle C Délot , Deepti Jain , Alba Sanchis-Juan , Auteur inconnu , Lea M Starita , Michael Talkowski , Stephen B Montgomery , Michael J Bamshad , Jessica X Chong , Matthew T Wheeler , Seth I Berger , Anne O'Donnell-Luria , Fritz J Sedlazeck , Danny E Miller

Pkhd1

Journal of molecular medicine (Berlin, Germany)

Avec: Chaozhe Yang , Naoe Harafuji , Ljubica Caldovic , Weiying Yu , Ravindra Boddu , Surajit Bhattacharya , Heather Gordish-Dressman , Oded Foreman , Zsuzsa Bebok , Eva M Eicher , Lisa M Guay-Woodford

Comparative Benchmarking of Optical Genome Mapping and Chromosomal Microarray Reveals High Technological Concordance in CNV Identification and Additional Structural Variant Refinement.

Genes

Avec: Andy Wing Chun Pang , Benjamin Clifford , Moises A Serrano , Alka Chaubey , Alex R Hastie

Long-read single-molecule maps of the functional methylome.

Genome research

Avec: Hila Sharim , Assaf Grunwald , Tslil Gabrieli , Yael Michaeli , Sapir Margalit , Dmitry Torchinsky , Rani Arielly , Gil Nifker , Matyas Juhasz , Felix Gularek , Miguel Almalvez , Brandon Dufault , Sreetama Sen Chandra , Alexander Liu , Surajit Bhattacharya , Yi-Wen Chen , Eric Vilain , Kathryn R Wagner , Jonathan Pevsner , Jeff Reifenberger , Ernest T Lam , Alex R Hastie , Han Cao , Elmar Weinhold , Yuval Ebenstein

nanotatoR: a tool for enhanced annotation of genomic structural variants.

BMC genomics

Avec: Surajit Bhattacharya , Emmanuèle C Délot , Eric Vilain

Question pursuit as an epistemic stance.

Studies in history and philosophy of science

Avec: Hakob Barseghyan

Beyond the exome: What's next in diagnostic testing for Mendelian conditions.

American journal of human genetics

Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum.

The Journal of clinical endocrinology and metabolism

Avec: Thatiana Evilen da Silva , Nathalia Lisboa Gomes , Antonio Marcondes Lerário , Catherine Elizabeth Keegan , Mirian Yumi Nishi , Filomena Marino Carvalho , Eric Vilain , Alejandro Martinez-Aguayo , María Verónica Forclaz , Regina Papazian , Leila Cristina Pedroso de Paula , Eduardo Corrêa Costa , Luciani Renata Carvalho , Alexander Augusto Lima Jorge , Felipe Martins Elias , Rod Mitchell , Elaine Maria Frade Costa , Berenice Bilharinho Mendonca , Sorahia Domenice

Long reads capture simultaneous enhancer-promoter methylation status for cell-type deconvolution.

Bioinformatics (Oxford, England)

Avec: Sapir Margalit , Yotam Abramson , Hila Sharim , Zohar Manber , Surajit Bhattacharya , Yi-Wen Chen , Eric Vilain , Ran Elkon , Roded Sharan , Yuval Ebenstein

Optical Genome Mapping as a Next-Generation Cytogenomic Tool for Detection of Structural and Copy Number Variations for Prenatal Genomic Analyses.

Genes

Avec: Nikhil Shri Sahajpal , Ravindra Kolhe , Alex Hastie , Alka Chaubey

Genome Mapping Nomenclature.

Cytogenetic and genome research

Avec: Sarah Moore , Jean McGowan-Jordan , Adam C Smith , Katrina Rack , Udo Koehler , Marian Stevens-Kroeg , Rashmi Kanagal-Shamanna , Ros Hastings , Auteur inconnu

Optical Genome Mapping as a Potential Routine Clinical Diagnostic Method.

Genes

Avec: Doris Eisenreich , Evgenia Lindt , Martin Wendlandt , Florentine Scharf , Anna Benet-Pages , Kai Sendelbach , Teresa Neuhann , Angela Abicht , Elke Holinski-Feder , Udo Koehler

Four distinct ipsilateral vestibular schwannomas: A case of mosaic NF2-related schwannomatosis.

American journal of clinical pathology

Avec: Alexandra E Tunkel , Emily R Youner , Yulong Fu , Surajit Bhattacharya , Miriam Bornhorst , Ashkan S Monfared

Réseau de co-auteurs

Surajit Bhattacharya 7 collaborations

Eric Vilain 7 collaborations

None None 4 collaborations

Emmanuèle C Délot 3 collaborations

Hakob Barseghyan 2 collaborations

Miriam Bornhorst 2 collaborations

Miguel Almalvez 2 collaborations

Yulong Fu 2 collaborations

Monica H Wojcik 2 collaborations

Chloe M Reuter 2 collaborations

Shruti Marwaha 2 collaborations

Medhat Mahmoud 2 collaborations

Michael H Duyzend 2 collaborations

Bo Yuan 2 collaborations

Philip M Boone 2 collaborations

Emily E Groopman 2 collaborations

Deepti Jain 2 collaborations

Alba Sanchis-Juan 2 collaborations

Lea M Starita 2 collaborations

Michael Talkowski 2 collaborations

Stephen B Montgomery 2 collaborations

Michael J Bamshad 2 collaborations

Jessica X Chong 2 collaborations

Matthew T Wheeler 2 collaborations

Seth I Berger 2 collaborations

Anne O'Donnell-Luria 2 collaborations

Fritz J Sedlazeck 2 collaborations

Danny E Miller 2 collaborations

Alka Chaubey 2 collaborations

Alex R Hastie 2 collaborations

Hila Sharim 2 collaborations

Sapir Margalit 2 collaborations

Yi-Wen Chen 2 collaborations

Yuval Ebenstein 2 collaborations

Udo Koehler 2 collaborations

Augustine Eze 1 collaboration

Ethan Putnam 1 collaboration

M Isabel Almira-Suarez 1 collaboration

Christopher Rossi 1 collaboration

Madhuri Kambhampati 1 collaboration

Mariam Barseghyan 1 collaboration

Nicole Del Risco 1 collaboration

David Dotson 1 collaboration

Joyce Turner 1 collaboration

John S Myseros 1 collaboration

Roger J Packer 1 collaboration

Javad Nazarian 1 collaboration

Brian Rood 1 collaboration

Heidi Cope 1 collaboration

Nicole Hoppman 1 collaboration

Cherisse Marcou 1 collaboration

Nicole Walley 1 collaboration

Catherine Rehder 1 collaboration

Kristen Deak 1 collaboration

Anna Alkelai 1 collaboration

Vandana Shashi 1 collaboration

Abhinav Parivesh 1 collaboration

Emmanuèle Délot 1 collaboration

Chaozhe Yang 1 collaboration

Naoe Harafuji 1 collaboration

Ljubica Caldovic 1 collaboration

Weiying Yu 1 collaboration

Ravindra Boddu 1 collaboration

Heather Gordish-Dressman 1 collaboration

Oded Foreman 1 collaboration

Zsuzsa Bebok 1 collaboration

Eva M Eicher 1 collaboration

Lisa M Guay-Woodford 1 collaboration

Andy Wing Chun Pang 1 collaboration

Benjamin Clifford 1 collaboration

Moises A Serrano 1 collaboration

Assaf Grunwald 1 collaboration

Tslil Gabrieli 1 collaboration

Yael Michaeli 1 collaboration

Dmitry Torchinsky 1 collaboration

Rani Arielly 1 collaboration

Gil Nifker 1 collaboration

Matyas Juhasz 1 collaboration

Felix Gularek 1 collaboration

Brandon Dufault 1 collaboration

Sreetama Sen Chandra 1 collaboration

Alexander Liu 1 collaboration

Kathryn R Wagner 1 collaboration

Jonathan Pevsner 1 collaboration

Jeff Reifenberger 1 collaboration

Ernest T Lam 1 collaboration

Han Cao 1 collaboration

Elmar Weinhold 1 collaboration

Thatiana Evilen da Silva 1 collaboration

Nathalia Lisboa Gomes 1 collaboration

Antonio Marcondes Lerário 1 collaboration

Catherine Elizabeth Keegan 1 collaboration

Mirian Yumi Nishi 1 collaboration

Filomena Marino Carvalho 1 collaboration

Alejandro Martinez-Aguayo 1 collaboration

María Verónica Forclaz 1 collaboration

Regina Papazian 1 collaboration

Leila Cristina Pedroso de Paula 1 collaboration

Eduardo Corrêa Costa 1 collaboration

Luciani Renata Carvalho 1 collaboration

Alexander Augusto Lima Jorge 1 collaboration

Felipe Martins Elias 1 collaboration

Rod Mitchell 1 collaboration

Elaine Maria Frade Costa 1 collaboration

Berenice Bilharinho Mendonca 1 collaboration

Sorahia Domenice 1 collaboration

Yotam Abramson 1 collaboration

Zohar Manber 1 collaboration

Ran Elkon 1 collaboration

Roded Sharan 1 collaboration

Nikhil Shri Sahajpal 1 collaboration

Ravindra Kolhe 1 collaboration

Alex Hastie 1 collaboration

Sarah Moore 1 collaboration

Jean McGowan-Jordan 1 collaboration

Adam C Smith 1 collaboration

Katrina Rack 1 collaboration

Marian Stevens-Kroeg 1 collaboration

Rashmi Kanagal-Shamanna 1 collaboration

Ros Hastings 1 collaboration

Doris Eisenreich 1 collaboration

Evgenia Lindt 1 collaboration

Martin Wendlandt 1 collaboration

Florentine Scharf 1 collaboration

Anna Benet-Pages 1 collaboration

Kai Sendelbach 1 collaboration

Teresa Neuhann 1 collaboration

Angela Abicht 1 collaboration

Elke Holinski-Feder 1 collaboration

Alexandra E Tunkel 1 collaboration

Emily R Youner 1 collaboration

Ashkan S Monfared 1 collaboration