Weisburd, B.
106  Ergebnisse:
Personensuche X
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2

CONGENITAL MUSCULAR DYSTROPHIES:

Pini, V. ; Weisburd, B. ; Ganesh, V....
Neuromuscular Disorders.  31 (2021)  - p. S70 , 2021
 
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6

Author Correction: Evaluating drug targets through human lo..:

Minikel, Eric Vallabh ; Karczewski, Konrad J ; Martin, Hilary C...
Minikel, Eric Vallabh, Karczewski, Konrad J., Martin, Hilary C., Cummings, Beryl B., Whiffin, Nicola, Rhodes, Daniel, Alföldi, J., Trembath, Richard C., van Heel, David A., Daly, Mark J., Alföldi, J., Armean, I.M., Banks, E., Bergelson, L., Cibulskis, K., Collins, R.L., Connolly, K.M., Covarrubias, M., Cummings, Beryl B., Daly, Mark J., Donnelly, S., Farjoun, Y., Ferriera, S., Francioli, L., Gabriel, S., Gauthier, L.D., Gentry, J., Gupta, N., Jeandet, T., Kaplan, D., Karczewski, Konrad J., Laricchia, K.M., Llanwarne, C., Minikel, Eric Vallabh, Munshi, R., Neale, B.M., Novod, S., O'Donnell-Luria, A.H., Petrillo, N., Poterba, T., Roazen, D., Ruano-Rubio, V., Saltzman, A., Samocha, K.E., Schleicher, M., Seed, C., Solomonson, M., Soto, J., Tiao, G., Tibbetts, K., Tolonen, C., Vittal, C., Wade, G., Wang, A., Wang, Q., Ware, J.S., Watts, N.A., Weisburd, B., Whiffin, Nicola, Aguilar Salinas, C.A., Ahmad, T., Albert, C.M., Ardissino, D., Atzmon, G., Barnard, J., Beaugeri....  , 2021
 
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7

Recurrent TTN metatranscript-only c.39974-11T>G splice vari..:

Bryen, S. J ; Ewans, L. J ; Pinner, J...
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/31660661/.  , 2021
 
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8

Recurrent TTN metatranscript-only c.39974-11T>G splice vari..:

Bryen, S. J ; Ewans, L. J ; Pinner, J...
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/31660661/.  , 2021
 
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9

Author Correction: Landscape of multi-nucleotide variants i..:

Wang, Qingbo ; Pierce-Hoffman, Emma ; Cummings, Beryl B...
Wang, Qingbo, Pierce-Hoffman, Emma, Cummings, Beryl B., Alföldi, J., Francioli, Laurent C., Gauthier, Laura D., Hill, Andrew J., O'Donnell-Luria, A.H., Armean, Irina M., Banks, E., Bergelson, L., Cibulskis, K., Collins, R.L., Connolly, K.M., Covarrubias, M., Daly, M.J., Donnelly, S., Farjoun, Y., Ferriera, S., Gabriel, S., Gentry, J., Gupta, N., Jeandet, T., Kaplan, D., Laricchia, K.M., Llanwarne, C., Minikel, E.V., Munshi, R., Neale, B.M., Novod, S., Petrillo, N., Poterba, T., Roazen, D., Ruano-Rubio, V., Saltzman, A., Samocha, K.E., Schleicher, M., Seed, C., Solomonson, M., Soto, J., Tiao, G., Tibbetts, K., Tolonen, C., Vittal, C., Wade, G., Wang, A., Ware, J.S., Watts, N.A., Weisburd, B., Whiffin, N., Aguilar Salinas, Carlos A., Ahmad, T., Albert, C.M., Ardissino, D., Atzmon, G., Barnard, J., Beaugerie, L., Benjamin, E.J., Boehnke, M., Bonnycastle, L.L., Bottinger, E.P., Bowden, D.W., Bown, M.J., Chambers, J.C., Chan, J.C., Chasman, D., Cho, J., Chung, M.K., Cohen,....  , 2021
 
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11

Author Correction: Characterising the loss-of-function impa..:

Whiffin, Nicola ; Karczewski, Konrad J ; Zhang, Xiaolei...
Whiffin, Nicola, Karczewski, Konrad J., Zhang, Xiaolei, Chothani, Sonia, Smith, Miriam J., Evans, D. Gareth, Roberts, Angharad M., Quaife, Nicholas M., Schafer, Sebastian, Rackham, Owen, Alföldi, J., O'Donnell-Luria, A.H., Francioli, Laurent C., Armean, Irina M., Banks, E., Bergelson, L., Cibulskis, K., Collins, R.L., Connolly, K.M., Covarrubias, M., Cummings, B., Daly, M.J., Donnelly, S., Farjoun, Y., Ferriera, S., Gabriel, S., Gauthier, L.D., Gentry, J., Gupta, N., Jeandet, T., Kaplan, D., Laricchia, K.M., Llanwarne, C., Minikel, E.V., Munshi, R., Neale, B.M., Novod, S., Petrillo, N., Poterba, T., Roazen, D., Ruano-Rubio, V., Saltzman, A., Samocha, K.E., Schleicher, M., Seed, C., Solomonson, M., Soto, J., Tiao, G., Tibbetts, K., Tolonen, C., Vittal, C., Wade, G., Wang, A., Wang, Q., Watts, N.A., Weisburd, B., Aguilar Salinas, Carlos A., Ahmad, T., Albert, C.M., Ardissino, D., Atzmon, G., Barnard, J., Beaugerie, L., Benjamin, E.J., Boehnke, M., Bonnycastle, L.L., Bot....  , 2021
 
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12

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVA..:

Scriba, CK ; Beecroft, SJ ; Clayton, JS...
https://discovery.ucl.ac.uk/id/eprint/10113810/3/Reilly_A%20novel%20RFC1%20repeat%20motif%20%28ACAGG%29%20in%20two%20Asia-Pacific%20CANVAS%20families%20Beecroft.pdf.  , 2020
 
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14

Characterising the loss-of-function impact of 5' untranslat..:

Whiffin, N ; Karczewski, K.J ; Zhang, X...
Whiffin, N., Karczewski, K.J., Zhang, X., Chothani, S., Smith, M.J., Evans, D.G., Roberts, A.M., Quaife, N.M., Schafer, S., Rackham, O., Alföldi, J., Hultman, C.M., Wang, A., Wang, Q., Watts, N.A., Weisburd, B., Aguilar Salinas, C.A., Ahmad, T., Albert, C.M., Ardissino, D., Atzmon, G., Francioli, L.C., Barnard, J., Kallela, M., Beaugerie, L., Benjamin, E.J., Boehnke, M., Bonnycastle, L.L., Bottinger, E.P., Bowden, D.W., Bown, M.J., Chambers, J.C., McCarroll, S., Chan, J.C., Chasman, D., Kaprio, J., Cho, J., Chung, M.K., Cohen, B., Correa, A., Dabelea, D., Daly, M.J., Darbar, D., McCarthy, M.I., Duggirala, R., Dupuis, J., Ellinor, P.T., Kathiresan, S., Elosua, R., Erdmann, J., Esko, T., Färkkilä, M., Florez, J., Programs in Metabolism and Medical and Population Genetics, Broad Institute., McGovern, D., Department of Medicine, Harvard Medical School, Boston, MA 02115, United States., Franke, A., Getz, G., Glaser, B., Kim, B.-J., Glatt, S.J., Goldstein, D., Gon....  , 2020
 
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