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Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2723, doi. 10.1093/brain/awad050
By:
- Zanovello, Matteo;
- Ibáñez, Kristina;
- Brown, Anna-Leigh;
- Sivakumar, Prasanth;
- Bombaci, Alessandro;
- Santos, Liana;
- Vugt, Joke J F A van;
- Narzisi, Giuseppe;
- Karra, Ramita;
- Scholz, Sonja W;
- Ding, Jinhui;
- Gibbs, J Raphael;
- Chiò, Adriano;
- Dalgard, Clifton;
- Weisburd, Ben;
- consortium, The American Genome Center (TAGC);
- Hanna, Michael G;
- Greensmith, Linda;
- Phatnani, Hemali;
- Veldink, Jan H
Publication type:
Article
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.
Published in:
2020
By:
- Scriba, Carolin K;
- Beecroft, Sarah J;
- Clayton, Joshua S;
- Cortese, Andrea;
- Sullivan, Roisin;
- Yau, Wai Yan;
- Dominik, Natalia;
- Rodrigues, Miriam;
- Walker, Elizabeth;
- Dyer, Zoe;
- Wu, Teddy Y;
- Davis, Mark R;
- Chandler, David C;
- Weisburd, Ben;
- Houlden, Henry;
- Reilly, Mary M;
- Laing, Nigel G;
- Lamont, Phillipa J;
- Roxburgh, Richard H;
- Ravenscroft, Gianina
Publication type:
journal article
Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Published in:
2019
By:
- Rivas, Manuel A.;
- Avila, Brandon E.;
- Koskela, Jukka;
- Huang, Hailiang;
- Stevens, Christine;
- Pirinen, Matti;
- Haritunians, Talin;
- Neale, Benjamin M.;
- Kurki, Mitja;
- Ganna, Andrea;
- Graham, Daniel;
- Glaser, Benjamin;
- Peter, Inga;
- Atzmon, Gil;
- Barzilai, Nir;
- Levine, Adam P.;
- Schiff, Elena;
- Pontikos, Nikolas;
- Weisburd, Ben;
- Lek, Monkol
Publication type:
Correction Notice
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Published in:
Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00604-w
By:
- Stenton, Sarah L.;
- O'Leary, Melanie C.;
- Lemire, Gabrielle;
- VanNoy, Grace E.;
- DiTroia, Stephanie;
- Ganesh, Vijay S.;
- Groopman, Emily;
- O'Heir, Emily;
- Mangilog, Brian;
- Osei-Owusu, Ikeoluwa;
- Pais, Lynn S.;
- Serrano, Jillian;
- Singer-Berk, Moriel;
- Weisburd, Ben;
- Wilson, Michael W.;
- Austin-Tse, Christina;
- Abdelhakim, Marwa;
- Althagafi, Azza;
- Babbi, Giulia;
- Bellazzi, Riccardo
Publication type:
Article
Compensatory induction of MYC expression by sustained CDK9 inhibition via a BRD4-dependent mechanism.
Published in:
eLife, 2015, p. 1, doi. 10.7554/eLife.06535
By:
- Huasong Lu;
- Yuhua Xue;
- Guoying K. Yu;
- Arias, Carolina;
- Lin, Julie;
- Fong, Susan;
- Faure, Michel;
- Weisburd, Ben;
- Xiaodan Ji;
- Mercier, Alexandre;
- Sutton, James;
- Kunxin Luo;
- Zhenhai Gao;
- Qiang Zhou
Publication type:
Article
The ExAC browser: displaying reference data information from over 60 000 exomes.
Published in:
Nucleic Acids Research, 2017, v. 45, n. D1, p. D840, doi. 10.1093/nar/gkw971
By:
- 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.
Publication type:
Article
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Published in:
Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23556-4
By:
- Goodrich, Julia K.;
- Singer-Berk, Moriel;
- Son, Rachel;
- Sveden, Abigail;
- Wood, Jordan;
- England, Eleina;
- Cole, Joanne B.;
- Weisburd, Ben;
- Watts, Nick;
- Caulkins, Lizz;
- Dornbos, Peter;
- Koesterer, Ryan;
- Zappala, Zachary;
- Zhang, Haichen;
- Maloney, Kristin A.;
- Dahl, Andy;
- Aguilar-Salinas, Carlos A.;
- Atzmon, Gil;
- Barajas-Olmos, Francisco;
- Barzilai, Nir
Publication type:
Article
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats.
Published in:
Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01085-z
By:
- Dolzhenko, Egor;
- Weisburd, Ben;
- Ibañez, Kristina;
- Rajan-Babu, Indhu-Shree;
- Anyansi, Christine;
- Bennett, Mark F.;
- Billingsley, Kimberley;
- Carroll, Ashley;
- Clamons, Samuel;
- Danzi, Matt C.;
- Deshpande, Viraj;
- Ding, Jinhui;
- Fazal, Sarah;
- Halman, Andreas;
- Jadhav, Bharati;
- Qiu, Yunjiang;
- Richmond, Phillip A.;
- Saunders, Christopher T.;
- Scheffler, Konrad;
- van Vugt, Joke J. F. A.
Publication type:
Article
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Published in:
PLoS Genetics, 2018, v. 14, n. 5, p. 1, doi. 10.1371/journal.pgen.1007329
By:
- Rivas, Manuel A.;
- Avila, Brandon E.;
- Koskela, Jukka;
- Huang, Hailiang;
- Stevens, Christine;
- Pirinen, Matti;
- Haritunians, Talin;
- Neale, Benjamin M.;
- Kurki, Mitja;
- Ganna, Andrea;
- Graham, Daniel;
- Glaser, Benjamin;
- Peter, Inga;
- Atzmon, Gil;
- Barzilai, Nir;
- Levine, Adam P.;
- Schiff, Elena;
- Pontikos, Nikolas;
- Weisburd, Ben;
- Lek, Monkol
Publication type:
Article
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
Published in:
Science Translational Medicine, 2017, v. 9, n. 386, p. 1, doi. 10.1126/scitranslmed.aal5209
By:
- Cummings, Beryl B.;
- Marshall, Jamie L.;
- Tukiainen, Taru;
- Lek, Monkol;
- Donkervoort, Sandra;
- Foley, A. Reghan;
- Bolduc, Veronique;
- Waddell, Leigh B.;
- Sandaradura, Sarah A.;
- O'Grady, Gina L.;
- Estrella, Elicia;
- Reddy, Hemakumar M.;
- Zhao, Fengmei;
- Weisburd, Ben;
- Karczewski, Konrad J.;
- O'Donnell-Luria, Anne H.;
- Birnbaum, Daniel;
- Sarkozy, Anna;
- Ying Hu;
- Gonorazky, Hernan
Publication type:
Article
KSHV 2.0: A Comprehensive Annotation of the Kaposi's Sarcoma-Associated Herpesvirus Genome Using Next-Generation Sequencing Reveals Novel Genomic and Functional Features.
Published in:
PLoS Pathogens, 2014, v. 10, n. 1, p. 1, doi. 10.1371/journal.ppat.1003847
By:
- Arias, Carolina;
- Weisburd, Ben;
- Stern-Ginossar, Noam;
- Mercier, Alexandre;
- Madrid, Alexis S.;
- Bellare, Priya;
- Holdorf, Meghan;
- Weissman, Jonathan S.;
- Ganem, Don
Publication type:
Article
RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics.
Published in:
Brain Communications, 2023, v. 5, n. 4, p. 1, doi. 10.1093/braincomms/fcad208
By:
- Scriba, Carolin K.;
- Stevanovski, Igor;
- Chintalaphani, Sanjog R.;
- Gamaarachchi, Hasindu;
- Ghaoui, Roula;
- Ghia, Darshan;
- Henderson, Robert D.;
- Jordan, Nerissa;
- Winkel, Antony;
- Lamont, Phillipa J.;
- Rodrigues, Miriam J.;
- Roxburgh, Richard H.;
- Weisburd, Ben;
- Laing, Nigel G.;
- Deveson, Ira W.;
- Davis, Mark R.;
- Ravenscroft, Gianina
Publication type:
Article
seqr: A web‐based analysis and collaboration tool for rare disease genomics.
Published in:
Human Mutation, 2022, v. 43, n. 6, p. 698, doi. 10.1002/humu.24366
By:
- 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;
- Mano, Stacy;
- O'Leary, Melanie;
- Lovgren, Alysia
Publication type:
Article
Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.
Published in:
Human Mutation, 2020, v. 41, n. 2, p. 403, doi. 10.1002/humu.23938
By:
- 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, Helen;
- Witting, Nanna;
- Vissing, John
Publication type:
Article
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.
Published in:
Human Mutation, 2017, v. 38, n. 5, p. 517, doi. 10.1002/humu.23203
By:
- 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
Publication type:
Article
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-49950-2
By:
- Cortese, Andrea;
- Beecroft, Sarah J.;
- Facchini, Stefano;
- Curro, Riccardo;
- Cabrera-Serrano, Macarena;
- Stevanovski, Igor;
- Chintalaphani, Sanjog R.;
- Gamaarachchi, Hasindu;
- Weisburd, Ben;
- Folland, Chiara;
- Monahan, Gavin;
- Scriba, Carolin K.;
- Dofash, Lein;
- Johari, Mridul;
- Grosz, Bianca R.;
- Ellis, Melina;
- Fearnley, Liam G.;
- Tankard, Rick;
- Read, Justin;
- Merve, Ashirwad
Publication type:
Article
Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Published in:
2024
By:
- Cortese, Andrea;
- Beecroft, Sarah J.;
- Facchini, Stefano;
- Curro, Riccardo;
- Cabrera-Serrano, Macarena;
- Stevanovski, Igor;
- Chintalaphani, Sanjog R.;
- Gamaarachchi, Hasindu;
- Weisburd, Ben;
- Folland, Chiara;
- Monahan, Gavin;
- Scriba, Carolin K.;
- Dofash, Lein;
- Johari, Mridul;
- Grosz, Bianca R.;
- Ellis, Melina;
- Fearnley, Liam G.;
- Tankard, Rick;
- Read, Justin;
- Merve, Ashirwad
Publication type:
Correction Notice
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-49950-2
By:
- Cortese, Andrea;
- Beecroft, Sarah J.;
- Facchini, Stefano;
- Curro, Riccardo;
- Cabrera-Serrano, Macarena;
- Stevanovski, Igor;
- Chintalaphani, Sanjog R.;
- Gamaarachchi, Hasindu;
- Weisburd, Ben;
- Folland, Chiara;
- Monahan, Gavin;
- Scriba, Carolin K.;
- Dofash, Lein;
- Johari, Mridul;
- Grosz, Bianca R.;
- Ellis, Melina;
- Fearnley, Liam G.;
- Tankard, Rick;
- Read, Justin;
- Merve, Ashirwad
Publication type:
Article
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-49950-2
By:
- Cortese, Andrea;
- Beecroft, Sarah J.;
- Facchini, Stefano;
- Curro, Riccardo;
- Cabrera-Serrano, Macarena;
- Stevanovski, Igor;
- Chintalaphani, Sanjog R.;
- Gamaarachchi, Hasindu;
- Weisburd, Ben;
- Folland, Chiara;
- Monahan, Gavin;
- Scriba, Carolin K.;
- Dofash, Lein;
- Johari, Mridul;
- Grosz, Bianca R.;
- Ellis, Melina;
- Fearnley, Liam G.;
- Tankard, Rick;
- Read, Justin;
- Merve, Ashirwad
Publication type:
Article
Variant Score Ranker—a web application for intuitive missense variant prioritization.
Published in:
Bioinformatics, 2019, v. 35, n. 21, p. 4478, doi. 10.1093/bioinformatics/btz252
By:
- Du, Juanjiangmeng;
- Sudarsanam, Monica;
- Pérez-Palma, Eduardo;
- Ganna, Andrea;
- Francioli, Laurent;
- Iqbal, Sumaiya;
- Niestroj, Lisa-Marie;
- Leu, Costin;
- Weisburd, Ben;
- Poterba, Tim;
- Nürnberg, Peter;
- Daly, Mark J;
- Palotie, Aarno;
- May, Patrick;
- Lal, Dennis
Publication type:
Article

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