Items where Division is "Current Faculties > Faculty of Medicine > Human Development and Health > Human Genetics and Genomic Medicine
Human Development and Health > Human Genetics and Genomic Medicine" and Year is 2021

Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project - Sunayna Best, Jenny Lord, Matthew Roche, Christopher M Watson, James A Poulter, Roel P J Bevers, Alex Stuckey, Katarzyna Szymanska, Jamie M Ellingford, Jenny Carmichael, Helen Brittain, Carmel Toomes, Chris Inglehearn, Colin A Johnson and Gabrielle Wheway

Type: Article | 2021

Author Correction: Transcript expression-aware annotation improves rare variant interpretation - Beryl B. Cummings, Konrad J. Karczewski, Jack A. Kosmicki, Eleanor G. Seaby, Moriel Singer-Berk, Jonathan M. Mudge, Juha Karjalainen, F. Kyle Satterstrom, Anne H. O’Donnell-Luria, Timothy Poterba, Cotton Seed, Matthew Solomonson, Jessica Alföldi, Jessica Alföldi, Irina M. Armean, Eric Banks, Louis Bergelson, Kristian Cibulskis, Ryan L. Collins, Kristen M. Connolly, Miguel Covarrubias, Beryl B. Cummings, Mark J. Daly, Stacey Donnelly, Yossi Farjoun, Steven Ferriera, Laurent Francioli, Stacey Gabriel, Laura D. Gauthier, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Konrad J. Karczewski, Kristen M. Laricchia, Christopher Llanwarne, Eric V. Minikel, Ruchi Munshi, Benjamin M. Neale, Sam Novod, Anne H. O’Donnell-Luria, Nikelle Petrillo, Timothy Poterba, David Roazen, Valentin Ruano-Rubio, Andrea Saltzman, Kaitlin E. Samocha, Molly Schleicher, Cotton Seed, Matthew Solomonson, Jose Soto, Grace Tiao, Kathleen Tibbetts, Charlotte Tolonen, Christopher Vittal, Gordon Wade, Arcturus Wang, Qingbo Wang, James S. Ware, Ben Weisburd, Nicola Whiffin, Carlos A.Aguilar Salinas, Tariq Ahmad, Christine M. Albert, Diego Ardissino, Gil Atzmon, John Barnard, Laurent Beaugerie, Emelia J. Benjamin, Michael Boehnke, Lori L. Bonnycastle, Erwin P. Bottinger, Donald W. Bowden, Matthew J. Bown, John C. Chambers, Juliana C. Chan, Daniel Chasman, Judy Cho, Mina K. Chung, Bruce Cohen, Adolfo Correa, Dana Dabelea, Mark J. Daly, Dawood Darbar, Ravindranath Duggirala, Josée Dupuis, Patrick T. Ellinor, Roberto Elosua, Jeanette Erdmann, Tõnu Esko, Martti Färkkilä, Jose Florez, Andre Franke, Gad Getz, Benjamin Glaser, Stephen J. Glatt, David Goldstein, Clicerio Gonzalez, Leif Groop, Christopher Haiman, Craig Hanis, Matthew Harms, Mikko Hiltunen, Matti M. Holi, Christina M. Hultman, Mikko Kallela, Jaakko Kaprio, Sekar Kathiresan, Bong Jo Kim, Young Jin Kim, George Kirov, Jaspal Kooner, Seppo Koskinen, Harlan M. Krumholz, Subra Kugathasan, Soo Heon Kwak, Markku Laakso, Terho Lehtimäki, Ruth J.F. Loos, Steven A. Lubitz, Ronald C.W. Ma, Daniel G. MacArthur, Jaume Marrugat, Kari M. Mattila, Steven McCarroll, Mark I. McCarthy, Dermot McGovern, Ruth McPherson, James B. Meigs, Olle Melander, Andres Metspalu, Benjamin M. Neale, Peter M. Nilsson, Michael C. O’Donovan, Dost Ongur, Lorena Orozco, Aarno Palotie, Kyong Soo Park, Carlos Pato, Ann E. Pulver, Nazneen Rahman, Anne M. Remes, John D. Rioux, Samuli Ripatti, Dan M. Roden, Danish Saleheen, Veikko Salomaa, Nilesh J. Samani, Jeremiah Scharf, Heribert Schunkert, Moore B. Shoemaker, Pamela Sklar, Hilkka Soininen, Harry Sokol, Tim Spector, Patrick F. Sullivan, Jaana Suvisaari, E. Shyong Tai, Yik Ying Teo, Tuomi Tiinamaija, Ming Tsuang, Dan Turner, Teresa Tusie-Luna, Erkki Vartiainen, Marquis P. Vawter, Hugh Watkins, Rinse K. Weersma, Maija Wessman, Ramnik J. Xavier and Mark J. Daly

Type: Article | 2021

Erratum: Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans - Sanna Gudmundsson, Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao, Beryl B. Cummings, Jessica Alföldi, Qingbo Wang, Ryan L. Collins, Kristen M. Laricchia, Andrea Ganna, Daniel P. Birnbaum, Laura D. Gauthier, Harrison Brand, Matthew Solomonson, Daniel Rhodes, Moriel Singer-Berk, Eleina M. England, Eleanor G. Seaby, Jack A. Kosmicki, Raymond K. Walters, Katherine Tashman, Yossi Farjoun, Eric Banks, Timothy Poterba, Arcturus Wang, Cotton Seed, Nicola Whiffin, Jessica X. Chong, Kaitlin E. Samocha, Emma Pierce-Hoffman, Zachary Zappala, Anne H. O'Donnell-Luria, Eric Vallabh Minikel, Ben Weisburd, Monkol Lek, James S. Ware, Christopher Vittal, Irina M. Armean, Louis Bergelson, Kristian Cibulskis, Kristen M. Connolly, Miguel Covarrubias, Stacey Donnelly, Steven Ferriera, Stacey Gabriel, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Christopher Llanwarne, Ruchi Munshi, Sam Novod, Nikelle Petrillo, David Roazen, Valentin Ruano-Rubio, Andrea Saltzman, Molly Schleicher, Jose Soto, Kathleen Tibbetts, Charlotte Tolonen, Gordon Wade, Michael E. Talkowski, Benjamin M. Neale, Mark J. Daly and Daniel G. MacArthur

Type: Article | 2021

Identification of novel locus associated with coronary artery aneurysms and validation of loci for susceptibility to Kawasaki disease - Clive Hoggart, Chisato Shimizu and Rachel Galassini

Type: Article | 2021

Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humanS - Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao, Beryl B. Cummings, Jessica Alföldi, Qingbo Wang, Ryan L. Collins, Kristen M. Laricchia, Andrea Ganna, Daniel P. Birnbaum, Laura D. Gauthier, Harrison Brand, Matthew Solomonson, Daniel Rhodes, Moriel Singer-Berk, Eleina M. England, Eleanor G. Seaby, Jack A. Kosmicki, Raymond K. Walters, Katherine Tashman, Yossi Farjoun, Eric Banks, Timothy Poterba, Arcturus Wang, Cotton Seed, Nicola Whiffin, Jessica X. Chong, Kaitlin E. Samocha, Emma Pierce-Hoffman, Zachary Zappala, Anne H. O’Donnell-Luria, Eric Vallabh Minikel, Ben Weisburd, Monkol Lek, James S. Ware, Christopher Vittal, Irina M. Armean, Louis Bergelson, Kristian Cibulskis, Kristen M. Connolly, Miguel Covarrubias, Stacey Donnelly, Steven Ferriera, Stacey Gabriel, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Christopher Llanwarne, Ruchi Munshi, Sam Novod, Nikelle Petrillo, David Roazen, Valentin Ruano-Rubio, Andrea Saltzman, Molly Schleicher, Jose Soto, Kathleen Tibbetts, Charlotte Tolonen, Gordon Wade, Michael E. Talkowski, Carlos A. Aguilar Salinas, Tariq Ahmad, Christine M. Albert, Diego Ardissino, Gil Atzmon, John Barnard, Laurent Beaugerie, Emelia J. Benjamin, Michael Boehnke, Lori L. Bonnycastle, Erwin P. Bottinger, Donald W. Bowden, Matthew J. Bown, John C. Chambers, Juliana C. Chan, Daniel Chasman, Judy Cho, Mina K. Chung, Bruce Cohen, Adolfo Correa, Dana Dabelea, Mark J. Daly, Dawood Darbar, Ravindranath Duggirala, Josée Dupuis, Patrick T. Ellinor, Roberto Elosua, Jeanette Erdmann, Tõnu Esko, Martti Färkkilä, Jose Florez, Andre Franke, Gad Getz, Benjamin Glaser, Stephen J. Glatt, David Goldstein, Clicerio Gonzalez, Leif Groop, Christopher Haiman, Craig Hanis, Matthew Harms, Mikko Hiltunen, Matti M. Holi, Christina M. Hultman, Mikko Kallela, Jaakko Kaprio, Sekar Kathiresan, Bong Jo Kim, Young Jin Kim, George Kirov, Jaspal Kooner, Seppo Koskinen, Harlan M. Krumholz, Subra Kugathasan, Soo Heon Kwak, Markku Laakso, Terho Lehtimäki, Ruth J.F. Loos, Steven A. Lubitz, Ronald C.W. Ma, Daniel G. MacArthur, Jaume Marrugat, Kari M. Mattila, Mark I. McCarthy, Dermot McGovern, Ruth McPherson, James B. Meigs, Olle Melander, Andres Metspalu, Benjamin M. Neale, Peter M. Nilsson, Michael C. O’Donovan, Dost Ongur, Lorena Orozco, Aarno Palotie, Kyong Soo Park, Carlos Pato, Ann E. Pulver, Nazneen Rahman, Anne M. Remes, John D. Rioux, Samuli Ripatti, Dan M. Roden, Danish Saleheen, Veikko Salomaa, Nilesh J. Samani, Jeremiah Scharf, Heribert Schunkert, Moore B. Shoemaker, Pamela Sklar, Hilkka Soininen, Harry Sokol, Tim Spector, Patrick F. Sullivan, Jaana Suvisaari, E. Shyong Tai, Yik Ying Teo, Tuomi Tiinamaija, Ming Tsuang, Dan Turner, Teresa Tusie-Luna, Erkki Vartiainen, Marquis P. Vawter, Hugh Watkins, Rinse K. Weersma, Maija Wessman, Ramnik J. Xavier, Benjamin M. Neale and Mark J. Daly

Type: Article | 2021

Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly - William Macken, Annie Godwin, Gabrielle Wheway, Karen Stals, Liliya Nazlamova, Sian Ellard, Ahmed Alfares, Taghrid Aloraini, Lamia AlSubaie, Majid Alfadhel, Sulaiman Alajaji, Htoo Wai, James Self, Andrew Douglas, Alexander Kao, Matthew Guille and Diana Baralle

Type: Article | 2021

Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes - Silvia Martin-almedina, Kazim Ogmen, Ege Sackey, Dionysios Grigoriadis, Christina Karapouliou, Noeline Nadarajah, Cathrine Ebbing, Jenny Lord, Rhiannon Mellis, Fanny Kortuem, Mary Beth Dinulos, Cassandra Polun, Sherri Bale, Giles Atton, Alexandra Robinson, Hallvard Reigstad, Gunnar Houge, Axel Von Der Wense, Wolf-henning Becker, Steve Jeffery, Peter S. Mortimer, Kristiana Gordon, Katherine S. Josephs, Sarah Robart, Mark D. Kilby, Stephanie Vallee, Jerome L. Gorski, Maja Hempel, Siren Berland, Sahar Mansour and Pia Ostergaard

Type: Article | 2021

Treatment of multisystem inflammatory syndrome in children - Andrew J. McArdle, Ortensia Vito, Harsita Patel, Eleanor G. Seaby, Priyen Shah and Clare Wilson

Type: Article | 2021 | Item not available on this server.

Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders - Andrew Douglas, Raymond T O'Keefe, William G. Newman, Diana Baralle, Graema CM Black and Jamie M. Ellingford

Type: Article | 2021

Type: Article | 2021 | Item availability restricted.

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis - Patricia L Weng, Amar J Majmundar and Kamal Khan

Type: Article | 2021 | Item not available on this server.

Whole genome sequencing in the diagnosis of primary ciliary dyskinesia - Gabrielle Wheway, N. Simon Thomas, Mary Carroll, Janice Coles, Regan Doherty, Patricia Goggin, Ben Green, Amanda Harris, David Hunt, Claire Jackson, Jenny Lord, Vito Mennella, James Thompson, Woolf Walker and Jane Lucas

Type: Article | 2021 | Item availability restricted.

The (epi)genomic landscape of splenic marginal zone lymphoma: biological implications, clinical utility, and future questions - Carolina Jaramillo Oquendo, Carolina Jaramillo Oquendo, Helen Parker, David Oscier, Sarah Ennis, Jane Gibson and Jonathan Strefford

Type: Review | 2021

Splicing in the diagnosis of rare disease: advances and challenges - Jenny Lord and Diana Baralle

Type: Review | 2021

Fetal hydrops and the Incremental yield of Next generation sequencing over standard prenatal Diagnostic testing ( FIND) study: prospective cohort study and meta‐analysis - F. Mone, R. Y. Eberhardt, M. E. Hurles, D. J. Mcmullan, E. R. Maher, Jenny Lord, L. S. Chitty, E. Dempsey, T. Homfray, J. L. Giordano, R. J. Wapner, L. Sun, T. N. Sparks, M E Norton and M. D. Kilby

Type: Review | 2021

Strategies to uplift novel Mendelian gene discovery for improved clinical outcomes - Eleanor G. Seaby, Heidi L. Rehm and Anne O'Donnell-Luria

Type: Review | 2021

Transcriptome analysis of ciliary differentiation in airway epithelium - Jelmer Legebeke, Katie Horton, Gabrielle Wheway, Htoo Wai, Claire Jackson, Janice Coles, John Holloway, Jane Lucas and Diana Baralle

Type: Meeting abstract | 2021 | Item not available on this server.