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Author/Creator Weisburd, Ben

1. Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring–Opitz Syndrome. Issue 5 (21st March 2017)

Authors:
Carlston, Colleen M.; O'Donnell‐Luria, Anne H.; Underhill, Hunter R.; Cummings, Beryl B.; Weisburd, Ben; Minikel, Eric V.; Birnbaum, Daniel P.; Tvrdik, Tatiana; MacArthur, Daniel G.; Mao, Rong
Journal:
Human mutation
Issue:
Volume 38:Issue 5(2017)
Page Start:
517
Record Type:
Journal Article
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3. Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. Issue 2 (3rd December 2019)

Authors:
Bryen, Samantha J.; Ewans, Lisa J.; Pinner, Jason; MacLennan, Suzanna C.; Donkervoort, Sandra; Castro, Diana; Töpf, Ana; O'Grady, Gina; Cummings, Beryl; Chao, Katherine R.; Weisburd, Ben; Francioli, Laurent; Faiz, Fathimath; Bournazos, Adam M.; Hu, Ying; Grosmann, Carla; Malicki, Denise M.; Doyle...
Journal:
Human mutation
Issue:
Volume 41:Issue 2(2020)
Page Start:
403
Record Type:
Journal Article
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4. Seqr: A web‐based analysis and collaboration tool for rare disease genomics. Issue 6 (21st March 2022)

Authors:
Pais, Lynn S.; Snow, Hana; Weisburd, Ben; Zhang, Shifa; Baxter, Samantha M.; DiTroia, Stephanie; O'Heir, Emily; England, Eleina; Chao, Katherine R.; Lemire, Gabrielle; Osei‐Owusu, Ikeoluwa; VanNoy, Grace E.; Wilson, Michael; Nguyen, Kevin; Arachchi, Harindra; Phu, William; Solomonson, Matthew; Ma...
Other Names:
Boycott Kym guestEditor.; Hamosh Ada guestEditor.; Rehm Heidi guestEditor.
Journal:
Human mutation
Issue:
Volume 43:Issue 6(2022)
Page Start:
698
Record Type:
Journal Article
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5. The ExAC browser: displaying reference data information from over 60 000 exomes. Issue Volume 45:Issue D1(2017) (24th November 2016)

Authors:
Karczewski, Konrad J.; Weisburd, Ben; Thomas, Brett; Solomonson, Matthew; Ruderfer, Douglas M.; Kavanagh, David; Hamamsy, Tymor; Lek, Monkol; Samocha, Kaitlin E.; Cummings, Beryl B.; Birnbaum, Daniel; Daly, Mark J.; MacArthur, Daniel G.
Journal:
Nucleic acids research
Issue:
Volume 45:Issue D1(2017)
Page Start:
D840
Record Type:
Journal Article
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6. WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase. (February 2021)

Authors:
Waddell, Leigh B.; Bryen, Samantha J.; Cummings, Beryl B.; Bournazos, Adam; Evesson, Frances J.; Joshi, Himanshu; Marshall, Jamie L.; Tukiainen, Taru; Valkanas, Elise; Weisburd, Ben; Sadedin, Simon; Davis, Mark R.; Faiz, Fathimath; Gooding, Rebecca; Sandaradura, Sarah A.; O'Grady, Gina L.; Tchan,...
Journal:
Neurology
Issue:
Volume 7:Number 1(2021)
Page Start:
Record Type:
Journal Article
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