Lynn S Pais

Affiliations

Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.

Publications (3)

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.

Neuron

Avec: Guoliang Chai , Alice Webb , Chen Li , Danny Antaki , Sangmoon Lee , Martin W Breuss , Nhi Lang , Valentina Stanley , Paula Anzenberg , Xiaoxu Yang , Trevor Marshall , Patrick Gaffney , Klaas J Wierenga , Brian Hon-Yin Chung , Mandy Ho-Yin Tsang , Alysia Kern Lovgren , Grace E VanNoy , Heidi L Rehm , Ghayda Mirzaa , Eyby Leon , Jullianne Diaz , Alexander Neumann , Arnout P Kalverda , Iain W Manfield , David A Parry , Clare V Logan , Colin A Johnson , David T Bonthron , Elizabeth M A Valleley , Mahmoud Y Issa , Sherif F Abdel-Ghafar , Mohamed S Abdel-Hamid , Patricia Jennings , Maha S Zaki , Eamonn Sheridan , Joseph G Gleeson

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

Human mutation

Avec: 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

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.

Nature medicine

Avec: Alicia B Byrne , Peer Arts , Thuong T Ha , Karin S Kassahn , Anne O'Donnell-Luria , Auteur inconnu , Milena Babic , Mahalia S B Frank , Jinghua Feng , Paul Wang , David M Lawrence , Leila Eshraghi , Luis Arriola , John Toubia , Hung Nguyen , Auteur inconnu , George McGillivray , Jason Pinner , Fiona McKenzie , Rebecca Morrow , Jill Lipsett , Nick Manton , T Yee Khong , Lynette Moore , Jan E Liebelt , Andreas W Schreiber , Sarah L King-Smith , Tristan S E Hardy , Matilda R Jackson , Christopher P Barnett , Hamish S Scott

Réseau de co-auteurs

Grace E VanNoy 2 collaborations

Heidi L Rehm 2 collaborations

Anne O'Donnell-Luria 2 collaborations

None None 2 collaborations

Guoliang Chai 1 collaboration

Alice Webb 1 collaboration

Chen Li 1 collaboration

Danny Antaki 1 collaboration

Sangmoon Lee 1 collaboration

Martin W Breuss 1 collaboration

Nhi Lang 1 collaboration

Valentina Stanley 1 collaboration

Paula Anzenberg 1 collaboration

Xiaoxu Yang 1 collaboration

Trevor Marshall 1 collaboration

Patrick Gaffney 1 collaboration

Klaas J Wierenga 1 collaboration

Brian Hon-Yin Chung 1 collaboration

Mandy Ho-Yin Tsang 1 collaboration

Alysia Kern Lovgren 1 collaboration

Ghayda Mirzaa 1 collaboration

Eyby Leon 1 collaboration

Jullianne Diaz 1 collaboration

Alexander Neumann 1 collaboration

Arnout P Kalverda 1 collaboration

Iain W Manfield 1 collaboration

David A Parry 1 collaboration

Clare V Logan 1 collaboration

Colin A Johnson 1 collaboration

David T Bonthron 1 collaboration

Elizabeth M A Valleley 1 collaboration

Mahmoud Y Issa 1 collaboration

Sherif F Abdel-Ghafar 1 collaboration

Mohamed S Abdel-Hamid 1 collaboration

Patricia Jennings 1 collaboration

Maha S Zaki 1 collaboration

Eamonn Sheridan 1 collaboration

Joseph G Gleeson 1 collaboration

Hana Snow 1 collaboration

Ben Weisburd 1 collaboration

Shifa Zhang 1 collaboration

Samantha M Baxter 1 collaboration

Stephanie DiTroia 1 collaboration

Emily O'Heir 1 collaboration

Eleina England 1 collaboration

Katherine R Chao 1 collaboration

Gabrielle Lemire 1 collaboration

Ikeoluwa Osei-Owusu 1 collaboration

Michael Wilson 1 collaboration

Kevin Nguyen 1 collaboration

Harindra Arachchi 1 collaboration

William Phu 1 collaboration

Matthew Solomonson 1 collaboration

Stacy Mano 1 collaboration

Melanie O'Leary 1 collaboration

Alysia Lovgren 1 collaboration

Lawrence Babb 1 collaboration

Christina A Austin-Tse 1 collaboration

Daniel G MacArthur 1 collaboration

Alicia B Byrne 1 collaboration

Peer Arts 1 collaboration

Thuong T Ha 1 collaboration

Karin S Kassahn 1 collaboration

Milena Babic 1 collaboration

Mahalia S B Frank 1 collaboration

Jinghua Feng 1 collaboration

Paul Wang 1 collaboration

David M Lawrence 1 collaboration

Leila Eshraghi 1 collaboration

Luis Arriola 1 collaboration

John Toubia 1 collaboration

Hung Nguyen 1 collaboration

George McGillivray 1 collaboration

Jason Pinner 1 collaboration

Fiona McKenzie 1 collaboration

Rebecca Morrow 1 collaboration

Jill Lipsett 1 collaboration

Nick Manton 1 collaboration

T Yee Khong 1 collaboration

Lynette Moore 1 collaboration

Jan E Liebelt 1 collaboration

Andreas W Schreiber 1 collaboration

Sarah L King-Smith 1 collaboration

Tristan S E Hardy 1 collaboration

Matilda R Jackson 1 collaboration

Christopher P Barnett 1 collaboration

Hamish S Scott 1 collaboration