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Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.
Na Zhu, Emilia M Swietlik, Carrie L Welch, Michael W Pauciulo, Jacob J Hagen, Xueya Zhou, Yicheng Guo, Johannes Karten, Divya Pandya, Tobias Tilly, Katie A Lutz, Jennifer M Martin, Carmen M Treacy, Erika B Rosenzweig, Usha Krishnan, Anna W Coleman, Claudia Gonzaga-Jauregui, Allan Lawrie, Richard C Trembath, Martin R Wilkins, Regeneron Genetics Center, PAH Biobank Enrolling Centers’ Investigators, NIHR BioResource for Translational Research - Rare Diseases, National Cohort Study of Idiopathic and Heritable PAH, Nicholas W Morrell, Yufeng Shen, Stefan Gräf, William C Nichols, Wendy K Chung
Jul 28, 2021
BACKGROUND: Pulmonary arterial hypertension (PAH) is a lethal vasculopathy characterized by pathogenic remodeling of pulmonary arterioles leading to increased pulmonary pressures, right ventricular hypertrophy, and heart...
Case-control association testing De novo variant analysis Exome Sequencing Genetics genome sequencing pulmonary arterial hypertension Adolescent Adult Age of Onset Aged Alleles Amino Acid Substitution Biomarkers Calcium-Binding Proteins Child Child Preschool Extracellular Matrix Proteins Female Genetic Predisposition to Disease genetic variation Genotype Humans Lymphokines Male Middle Aged Mutation Phenotype Platelet-Derived Growth Factor Population Surveillance pulmonary arterial hypertension United Kingdom United States Young Adult
Thiopurine monotherapy is effective in ulcerative colitis but significantly less so in Crohn's disease
Evangelos Stournaras, Wendi Qian, Apostolos Pappas, You Yi Hong, Rasha Shawky, UK IBD BioResource Investigators, Tim Raine, Miles Parkes, UK IBD Bioresource Investigators
Jul 20, 2020
OBJECTIVE: Thiopurines are widely used as maintenance therapy in inflammatory bowel disease (IBD) but the evidence base for their use is sparse and their role increasingly questioned. Using the largest series reported to date...
Telomerecat
Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to our understanding of cell replication and vitality. The proliferation of whole genome sequencing represents an unprecedented...
Characterization of renal cell carcinoma-associated constitutional chromosome abnormalities by genome sequencing.
Philip S Smith, James Whitworth, Hannah West, Jacqueline Cook, Carol Gardiner, Derek Hk Lim, Patrick J Morrison, R Gordon Hislop, Emily Murray, NIHR Rare Disease BioResource, Marc Tischkowitz, Anne Y Warren, Emma R Woodward, Eamonn R Maher
Jan 22, 2020
Constitutional translocations, typically involving chromosome 3, have been recognized as a rare cause of inherited predisposition to renal cell carcinoma (RCC) for four decades. However, knowledge of the molecular basis of this...
Genetics renal cell carcinoma Translocation whole genome sequencing Acid Anhydride Hydrolases Adult Aged Carcinoma Renal Cell Chromosome Aberrations Chromosome Breakpoints Chromosomes Human Pair 3 Female Genetic Testing Humans Kidney Neoplasms Male Middle Aged Neoplasm Proteins Protein Serine-Threonine Kinases Proto-Oncogene Proteins Sequence Analysis DNA Tumor Suppressor Proteins ras Guanine Nucleotide Exchange Factors
Predicting the Occurrence of Variants in RAG1 and RAG2.
Dylan Lawless, Hana Lango Allen, James Thaventhiran, NIHR BioResource–Rare Diseases Consortium, Flavia Hodel, Rashida Anwar, Jacques Fellay, Jolan E Walter, Sinisa Savic
Jan 03, 2020
While widespread genome sequencing ushers in a new era of preventive medicine, the tools for predictive genomics are still lacking. Time and resource limitations mean that human diseases remain uncharacterized because of an...
Publisher Correction: Telomerecat
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper.
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.
Courtney E French, Isabelle Delon, Helen Dolling, Alba Sanchis-Juan, Olga Shamardina, Karyn Mégy, Stephen Abbs, Topun Austin, Sarah Bowdin, Ricardo G Branco, Helen Firth, NIHR BioResource—Rare Disease, Next Generation Children Project, David H Rowitch, F Lucy Raymond
May 07, 2019
PURPOSE: With growing evidence that rare single gene disorders present in the neonatal period, there is a need for rapid, systematic, and comprehensive genomic diagnoses in ICUs to assist acute and long-term clinical decisions....
Critically ill children Genetics Genomics NICU PICU whole genome sequencing Adolescent Child Child Preschool Cohort Studies Critical Illness England Female Genetic background Genetic Diseases Inborn Humans Infant Infant Newborn Intensive Care Units Neonatal Intensive Care Units Pediatric Male Prospective Studies State Medicine whole genome sequencing Young Adult
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.
Claire Lentaigne, Daniel Greene, Suthesh Sivapalaratnam, Remi Favier, Denis Seyres, Chantal Thys, Luigi Grassi, Sarah Mangles, Keith Sibson, Matthew Stubbs, Frances Burden, Jean-Claude Bordet, Corinne Armari-Alla, Wendy Erber, Samantha Farrow, Nicholas Gleadall, Keith Gomez, Karyn Megy, Sofia Papadia, Christopher J Penkett, Matthew C Sims, Luca Stefanucci, Jonathan C Stephens, Randy J Read, Kathleen E Stirrups, Willem H Ouwehand, Michael A Laffan, NIHR BioResource, Mattia Frontini, Kathleen Freson, Ernest Turro
Jan 02, 2020
To identify novel causes of hereditary thrombocytopenia, we performed a genetic association analysis of whole-genome sequencing data from 13 037 individuals enrolled in the National Institute for Health Research (NIHR)...
Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases.
Thiopurine monotherapy is effective in ulcerative colitis but significantly less so in Crohn’s disease
Evangelos Stournaras, Wendi Qian, Apostolos Pappas, You Yi Hong, Rasha Shawky, UK IBD BioResource Investigators, Tim Raine, Miles Parkes, UK IBD BioResource Investigators, Tariq Ahmad, Nick Kennedy, Peter Irving, Natalie Prescott, Charlie Lees, John Mansfield, Chris Lamb, Jack Satsangi, Alison Simmons, Alisa Hart, Sreedhar Subramanian, Chris Probert, Richard Shenderey, Anton Gunasekera, Klaartje Bel Kok, Babur Javaid, Leena Sinha, Salil Singh, Cathryn Preston, Mark Jarvis, Ruth Penn, Anjan Dhar, Achuth Shenoy, Kath Phillis, Arabis Oglesby, Jude Tilbury, Glyn Scott, Joseph Collum, Martyn Carter, Jamie Barbour, John Gordon, John Ramage, Ganesh Sivagi, Phil Roberts, Monica Bose, Shaji Sebastian, Joy Wilkins, Paul Banim, Alexana Kent, Ajay Verma, Dawn Warren, Alan Wiles, Matthew Johnson, Konrad Koss, Chirag Oza, Khalid Elamin, Annette Woods, Bijay Baburajan, Chris MacDonald, Byron Theron, Mark Tremelling, Udi Shmueli, Roisin Bevan, Jimmy Limdi, Prakash Nair, Deven Vani, Stephen Lewis, Michelle Baker-Moffat, Gordon Moran, Simon McLaughlin, Aminda de Silva, John Beckly, Anew Cole, Charles Murray, Alan Lobo, Melissa Smith, Sanju Mathew, John Saunders, Helen Steed, Matthew Brookes, Juliette Loehry, Monira Rahman, Jeff Butterworth, Ajay Muddu, Katie Clark, Christian Selinger, Arvind Ramadas, John McLaughlin, Richard Pollok, Colin Rees, Simon Panter, David Hobday, Stephen Foley, Vinod Patel, Emma Wesley, Daniel Gavin, Cathryn Edwards, Stuart Bloom, Chuka Nwokolo, John deCaestecker, Mina Hanna, Albert Davies, Laura Hancock, Fraser Cummings, Subramaniam Ramakrishnan, Theresa Tindall, Jonathan Landy, Richard Appleby, Dan Sharpstone, Andy Li, Richard Keld, Lin Mear, Anne Philips, Horace Willia, Laura Hancock Ben Warner, Dharmaraj Durai, Elaine Brinkworth, Zahid Mahmood, Rachel Cooney
Oct 06, 2020
Objective: Thiopurines are widely used as maintenance therapy in inflammatory bowel disease (IBD) but the evidence base for their use is sparse and their role increasingly questioned. Using the largest series reported to date...
Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension.
Emilia M Swietlik, Daniel Greene, Na Zhu, Karyn Megy, Marcella Cogliano, Smitha Rajaram, Divya Pandya, Tobias Tilly, Katie A Lutz, Carrie CL Welch, Michael W Pauciulo, Laura Southgate, Jennifer M Martin, Carmen M Treacy, Christopher J Penkett, Jonathan C Stephens, Harm J Bogaard, Colin Church, Gerry Coghlan, Anna W Coleman, Robin Condliffe, Christina A Eichstaedt, Mélanie Eyries, Henning Gall, Stefano Ghio, Barbara Girerd, Ekkehard Grünig, Simon Holden, Luke Howard, Marc Humbert, David G Kiely, Gabor Kovacs, Jim Lordan, Rajiv D Machado, Robert V MacKenzie Ross, Colm McCabe, Shahin Moledina, David Montani, Horst Olschewski, Joanna Pepke-Zaba, Laura Price, Christopher J Rhodes, Werner Seeger, Florent Soubrier, Jay Suntharalingam, Mark R Toshner, Anton Vonk Noordegraaf, John Wharton, James M Wild, Stephen John Wort, Allan Lawrie, Martin R Wilkins, Richard C Trembath, Yufeng Shen, Wendy K Chung, Andrew J Swift, William C Nichols, Nicholas W Morrell, Stefan Gräf
Dec 15, 2020
Background - Approximately 25% of patients with pulmonary arterial hypertension (PAH) have been found to harbor rare mutations in disease-causing genes. To identify missing heritability in PAH we integrated deep phenotyping with...
How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study.
Rhea YY Tan, Matthew Traylor, Karyn Megy, Daniel Duarte, Sri VV Deevi, Olga Shamardina, Rutendo P Mapeta, NIHR BioResource: Rare Diseases Consortium, Willem H Ouwehand, Stefan Gräf, Kate Downes, Hugh S Markus
May 30, 2019
Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.
Na Zhu, Emilia M Swietlik, Carrie L Welch, Michael W Pauciulo, Jacob J Hagen, Xueya Zhou, Yicheng Guo, Johannes Karten, Divya Pandya, Tobias Tilly, Katie A Lutz, Jennifer M Martin, Carmen M Treacy, Erika B Rosenzweig, Usha Krishnan, Anna W Coleman, Claudia Gonzaga-Jauregui, Allan Lawrie, Richard C Trembath, Martin R Wilkins, Nicholas W Morrell, Yufeng Shen, Stefan Gräf, William C Nichols, Wendy K Chung
Jun 11, 2021
Background
Pulmonary arterial hypertension (PAH) is a lethal vasculopathy characterized by pathogenic remodeling of pulmonary arterioles leading to increased pulmonary pressures, right ventricular hypertrophy, and heart...
Genetics genome sequencing pulmonary arterial hypertension Exome Sequencing Case-control association testing De novo variant analysis
Published by: Genome medicine
Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH
Na Zhu, Emilia M. Swietlik, Carrie L. Welch, Michael W. Pauciulo, Jacob J. Hagen, Xueya Zhou, Yicheng Guo, Johannes Karten, Divya Pandya, Tobias Tilly, Katie A. Lutz, Jennifer M. Martin, Carmen M. Treacy, Erika B. Rosenzweig, Usha Krishnan, Anna W. Coleman, Claudia Gonzaga-Jauregui, Allan Lawrie, Richard C. Trembath, Martin R. Wilkins, Nicholas W. Morrell, Yufeng Shen, Stefan Gräf, William C. Nichols, Wendy K. Chung, Russel Hirsch, R. James White, Marc Simon, David Badesch, Erika Rosenzweig, Charles Burger, Murali Chakinala, Thenappan Thenappan, Greg Elliott, Robert Simms, Harrison Farber, Robert Frantz, Jean Elwing, Nicholas Hill, Dunbar Ivy, James Klinger, Steven Nathan, Ronald Oudiz, Ivan Robbins, Robert Schilz, Terry Fortin, Jeffrey Wilt, Delphine Yung, Eric Austin, Ferhaan Ahmad, Nitin Bhatt, Tim Lahm, Adaani Frost, Zeenat Safdar, Zia Rehman, Robert Walter, Fernando Torres, Sahil Bakshi, Stephen Archer, Rahul Argula, Christopher Barnett, Raymond Benza, Ankit Desai, Veeranna Maddipati, Harm J. Bogaard, Colin Church, Gerry Coghlin, Robin Condliffe, Mélanie Eyries, Henning Gall, Stefano Ghio, Barbara Girerd, Simon Holden, Luke Howard, Marc Humbert, David G. Kiely, Gabor Kovacs, Jim Lordan, Rajiv D. Machado, Robert V. MacKenzie Ross, Colm McCabe, Shahin Moledina, David Montani, Horst Olschewski, Christopher J. Penkett, Joanna Pepke-Zaba, Laura Price, Christopher J. Rhodes, Werner Seeger, Florent Soubrier, Laura Southgate, Jay Suntharalingam, Andrew J. Swift, Mark R. Toshner, Anton Vonk Noordegraaf, John Wharton, Jim Wild, Stephen John Wort
Jun 22, 2021
Abstract: Background: Pulmonary arterial hypertension (PAH) is a lethal vasculopathy characterized by pathogenic remodeling of pulmonary arterioles leading to increased pulmonary pressures, right ventricular hypertrophy, and...
Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH
Na Zhu, Emilia M. Swietlik, Carrie L. Welch, Michael W. Pauciulo, Jacob J. Hagen, Xueya Zhou, Yicheng Guo, Johannes Karten, Divya Pandya, Tobias Tilly, Katie A. Lutz, Jennifer M. Martin, Carmen M. Treacy, Erika B. Rosenzweig, Usha Krishnan, Anna W. Coleman, Claudia Gonzaga-Juaregui, Allan Lawrie, Richard C. Trembath, Martin R. Wilkins, Nicholas W. Morrell, Yufeng Shen, Stefan Gräf, William C. Nichols, Wendy K. Chung, Russel Hirsch, R. James White, Marc Simon, David Badesch, Erika Rosenzweig, Charles Burger, Murali Chakinala, Thenappan Thenappan, Greg Elliott, Robert Simms, Harrison Farber, Robert Frantz, Jean Elwing, Nicholas Hill, Dunbar Ivy, James Klinger, Steven Nathan, Ronald Oudiz, Ivan Robbins, Robert Schilz, Terry Fortin, Jeffrey Wilt, Delphine Yung, Eric Austin, Ferhaan Ahmad, Nitin Bhatt, Tim Lahm, Adaani Frost, Zeenat Safdar, Zia Rehman, Robert Walter, Fernando Torres, Sahil Bakshi, Stephen Archer, Rahul Argula, Christopher Barnett, Raymond Benza, Ankit Desai, Veeranna Maddipati, Harm J. Bogaard, Colin Church, Gerry Coghlin, Robin Condliffe, Mélanie Eyries, Henning Gall, Stefano Ghio, Barbara Girerd, Simon Holden, Luke Howard, Marc Humbert, David G. Kiely, Gabor Kovacs, Jim Lordan, Rajiv D. Machado, Robert V. MacKenzie Ross, Colm McCabe, Shahin Moledina, David Montani, Horst Olschewski, Christopher J. Penkett, Joanna Pepke-Zaba, Laura Price, Christopher J. Rhodes, Werner Seeger, Florent Soubrier, Laura Southgate, Jay Suntharalingam, Andrew J. Swift, Mark R. Toshner, Anton Vonk Noordegraaf, John Wharton, Jim Wild, Stephen John Wort
May 10, 2021
Abstract: Background: Pulmonary arterial hypertension (PAH) is a lethal vasculopathy characterized by pathogenic remodeling of pulmonary arterioles leading to increased pulmonary pressures, right ventricular hypertrophy, and...
Evidence of previous SARS-CoV-2 infection in seronegative patients with long COVID.
Benjamin A Krishna, Eleanor Y Lim, Lenette Mactavous, NIHR BioResource Team, Paul A Lyons, Rainer Doffinger, John R Bradley, Kenneth GC Smith, John Sinclair, Nicholas J Matheson, Paul J Lehner, Mark R Wills, Nyaradzai Sithole
Aug 01, 2022
BACKGROUND: There is currently no consensus on the diagnosis, definition, symptoms, or duration of COVID-19 illness. The diagnostic complexity of Long COVID is compounded in many patients who were or might have been infected...
Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH
Na Zhu, Emilia M. Swietlik, Carrie L. Welch, Michael W. Pauciulo, Jacob J. Hagen, Xueya Zhou, Yicheng Guo, Johannes Karten, Divya Pandya, Tobias Tilly, Katie A. Lutz, Jennifer M. Martin, Carmen M. Treacy, Erika B. Rosenzweig, Usha Krishnan, Anna W. Coleman, Claudia Gonzaga-Jauregui, Allan Lawrie, Richard C. Trembath, Martin R. Wilkins, Nicholas W. Morrell, Yufeng Shen, Stefan Gräf, William C. Nichols, Wendy K. Chung, Russel Hirsch, R. James White, Marc Simon, David Badesch, Erika Rosenzweig, Charles Burger, Murali Chakinala, Thenappan Thenappan, Greg Elliott, Robert Simms, Harrison Farber, Robert Frantz, Jean Elwing, Nicholas Hill, Dunbar Ivy, James Klinger, Steven Nathan, Ronald Oudiz, Ivan Robbins, Robert Schilz, Terry Fortin, Jeffrey Wilt, Delphine Yung, Eric Austin, Ferhaan Ahmad, Nitin Bhatt, Tim Lahm, Adaani Frost, Zeenat Safdar, Zia Rehman, Robert Walter, Fernando Torres, Sahil Bakshi, Stephen Archer, Rahul Argula, Christopher Barnett, Raymond Benza, Ankit Desai, Veeranna Maddipati, Harm J. Bogaard, Colin Church, Gerry Coghlin, Robin Condliffe, Mélanie Eyries, Henning Gall, Stefano Ghio, Barbara Girerd, Simon Holden, Luke Howard, Marc Humbert, David G. Kiely, Gabor Kovacs, Jim Lordan, Rajiv D. Machado, Robert V. MacKenzie Ross, Colm McCabe, Shahin Moledina, David Montani, Horst Olschewski, Christopher J. Penkett, Joanna Pepke-Zaba, Laura Price, Christopher J. Rhodes, Werner Seeger, Florent Soubrier, Laura Southgate, Jay Suntharalingam, Andrew J. Swift, Mark R. Toshner, Anton Vonk Noordegraaf, John Wharton, Jim Wild, Stephen John Wort
Jun 04, 2021
Abstract: Background: Pulmonary arterial hypertension (PAH) is a lethal vasculopathy characterized by pathogenic remodeling of pulmonary arterioles leading to increased pulmonary pressures, right ventricular hypertrophy, and...
Expression Quantitative Trait Locus Mapping in Pulmonary Arterial Hypertension.
Anna Ulrich, Pablo Otero-Núñez, John Wharton, Emilia M Swietlik, Stefan Gräf, Nicholas W Morrell, Dennis Wang, Allan Lawrie, Martin R Wilkins, Inga Prokopenko, Christopher J Rhodes, On Behalf Of The Nihr BioResource-Rare Diseases Consortium, UK PAH Cohort Study Consortium
Jan 08, 2021
Expression quantitative trait loci (eQTL) can provide a link between disease susceptibility variants discovered by genetic association studies and biology. To date, eQTL mapping studies have been primarily conducted in healthy...
Blood eQTL expression quantitative trait locus Genetics pulmonary arterial hypertension Base Sequence Familial Primary Pulmonary Hypertension Female Genetic Association Studies Genetic Predisposition to Disease Genome Genome-Wide Association Study Humans Male Polymorphism Single Nucleotide pulmonary arterial hypertension Quantitative Trait Loci Sequence Analysis RNA Transcriptome
Expression Quantitative Trait Locus Mapping in Pulmonary Arterial Hypertension
Anna Ulrich, Pablo Otero-Núñez, John Wharton, Emilia M. Swietlik, Stefan Gräf, Nicholas W. Morrell, Dennis Wang, Allan Lawrie, Martin R. Wilkins, Inga Prokopenko, Christopher J. Rhodes, on behalf of The NIHR BioResource—Rare Diseases Consortium, UK PAH Cohort Study Consortium
Oct 23, 2020
Expression quantitative trait loci (eQTL) can provide a link between disease susceptibility variants discovered by genetic association studies and biology. To date, eQTL mapping studies have been primarily conducted in healthy...
The UK10K project identifies rare variants in health and disease.
UK10K consortium, Klaudia Walter, Josine L Min, Jie Huang, Lucy Crooks, Yasin Memari, Shane McCarthy, John RB Perry, ChangJiang Xu, Marta Futema, Daniel Lawson, Valentina Iotchkova, Stephan Schiffels, Audrey E Hendricks, Petr Danecek, Rui Li, James Floyd, Louise V Wain, Inês Barroso, Steve E Humphries, Matthew E Hurles, Eleftheria Zeggini, Jeffrey C Barrett, Vincent Plagnol, J Brent Richards, Celia MT Greenwood, Nicholas J Timpson, Richard Durbin, Nicole Soranzo
Jun 25, 2018
The contribution of rare and low-frequency variants to human traits is largely unexplored. Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes (high read depth, 80×) of nearly 10,000...
Adiponectin Alleles Cohort Studies Disease Exome Female Genetic Predisposition to Disease genetic variation Genetics Medical Genetics Population Genome Human Genome-Wide Association Study Genomics HEALTH Humans Lipid Metabolism Male Molecular Sequence Annotation Receptors LDL Reference Standards Sequence Analysis DNA Triglycerides United Kingdom
Whole-genome sequencing of patients with rare diseases in a national health system.
Ernest Turro, William J Astle, Karyn Megy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis-Juan, Mattia Frontini, Chantal Thys, Jonathan Stephens, Rutendo Mapeta, Oliver S Burren, Kate Downes, Matthias Haimel, Salih Tuna, Sri VV Deevi, Timothy J Aitman, David L Bennett, Paul Calleja, Keren Carss, Mark J Caulfield, Patrick F Chinnery, Peter H Dixon, Daniel P Gale, Roger James, Ania Koziell, Michael A Laffan, Adam P Levine, Eamonn R Maher, Hugh S Markus, Joannella Morales, Nicholas W Morrell, Andrew D Mumford, Elizabeth Ormondroyd, Stuart Rankin, Augusto Rendon, Sylvia Richardson, Irene Roberts, Noemi BA Roy, Moin A Saleem, Kenneth GC Smith, Hannah Stark, Rhea YY Tan, Andreas C Themistocleous, Adrian J Thrasher, Hugh Watkins, Andrew R Webster, Martin R Wilkins, Catherine Williamson, James Whitworth, Sean Humphray, David R Bentley, 000 Genomes Project NIHR BioResource for the 100, Nathalie Kingston, Neil Walker, John R Bradley, Sofie Ashford, Christopher J Penkett, Kathleen Freson, Kathleen E Stirrups, F Lucy Raymond, Willem H Ouwehand
Jul 01, 2020
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a...
Actin-Related Protein 2-3 Complex Adaptor Proteins Signal Transducing Alleles Databases Factual Erythrocytes GATA1 Transcription Factor Humans Internationality National Health Programs Phenotype Quantitative Trait Loci Rare Diseases Receptors Thrombopoietin State Medicine United Kingdom whole genome sequencing
ADA2 deficiency complicated by EBV-driven lymphoproliferative disease.
Emily Staples, Ilenia Simeoni, Jonathan C Stephens, Hana Lango Allen, NIHR-BioResource, Penny Wright, E Graham Davies, Babak Javid, Effrossyni Gkrania-Klotsas, Michael Gattens, Helen Firth, Olga Shamardina, Sri VV Deevi, Matina Prapa, Ben Uttenthal, Dinakantha Kumararatne, James ED Thaventhiran
May 14, 2020
A 29-year old male with recurrent respiratory and skin infections, anaemia and neutropaenia during childhood required immunoglobulin replacement for antibody deficiency from age 16. He remained relatively well until age 28 when...
Genetic association analysis of 77,539 genomes reveals rare disease etiologies.
Daniel Greene, Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al-Owain, Arnaud P J Giese, Khushnooda Ramzan, Sehar Riaz, Itaru Yamanaka, Nele Boeckx, Chantal Thys, Bruce D Gelb, Paul Brennan, Verity Hartill, Julie Harvengt, Tomoki Kosho, Sahar Mansour, Mitsuo Masuno, Takako Ohata, Helen Stewart, Khalid Taibah, Claire L S Turner, Faiqa Imtiaz, Saima Riazuddin, Takayuki Morisaki, Pia Ostergaard, Bart L Loeys, Hiroko Morisaki, Zubair M Ahmed, Graeme M Birdsey, Kathleen Freson, Andrew Mumford, Ernest Turro
Apr 17, 2023
The genetic etiologies of more than half of rare diseases remain unknown. Standardized genome sequencing and phenotyping of large patient cohorts provide an opportunity for discovering the unknown etiologies, but this depends on...
Humans Rare Diseases Membrane Proteins Bayes Theorem Genotype Phenotype Genome-Wide Association Study
Published by: Nature medicine
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