PMC Articles for MedGen (Select 501193) - PMC

Rajesh Madhu, Glenda M. Beaman, Kate E. Chandler, James O'Sullivan, Jill E. Urquhart, Naz Khan, Elizabeth Martindale, Tracy A. Briggs, Jill Clayton-Smith, Jenny Higgs, Gauri Batra, Bronwyn Kerr, Adrian S. Woolf, William G. Newman

Eur J Med Genet. 2020 Sep; 63(9): 103974. doi: 10.1016/j.ejmg.2020.103974

PMCID:: PMC7445424

Abstract Article

Select item 107720715.

Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism

Patrick Yap, Lisa G. Riley, Purvi M. Kakadia, Stefan K. Bohlander, Ben Curran, Meer Jacob Rahimi, Salam Alburaiky, Ian Hayes, Henry Oppermann, Cristin Print, Sandra T. Cooper, Polona Le Quesne Stabej

Eur J Hum Genet. 2024 Jan; 32(1): 125–129. Published online 2023 Nov 6. doi: 10.1038/s41431-023-01484-9

PMCID:: PMC10772071

Abstract Article PDF–1.3M

Select item 100658216.

Assessing the Impact of Prophylactic Eculizumab on Renal Graft Survival in Atypical Hemolytic Uremic Syndrome

Emily K. Glover, Kate Smith-Jackson, Vicky Brocklebank, Valerie Wilson, Patrick R. Walsh, Emma K. Montgomery, Edwin K.S. Wong, Sally Johnson, Michal Malina, David Kavanagh, Neil S. Sheerin

Transplantation. 2023 Apr; 107(4): 994–1003. Published online 2023 Mar 31. doi: 10.1097/TP.0000000000004355

PMCID:: PMC10065821

Abstract Article PDF–973K

Select item 98855257.

Damaging variants in FOXI3 cause microtia and craniofacial microsomia

Daniel Quiat, Andrew T. Timberlake, Justin J. Curran, Michael L. Cunningham, Barbara McDonough, Maria A. Artunduaga, Steven R. DePalma, Milagros M. Duenas-Roque, Joshua M. Gorham, Jonas A. Gustafson, Usama Hamdan, Anne V. Hing, Paula Hurtado-Villa, Yamileth Nicolau, Gabriel Osorno, Harry Pachajoa, Gloria L. Porras-Hurtado, Lourdes Quintanilla-Dieck, Luis Serrano, Melissa Tumblin, Ignacio Zarante, Daniela V. Luquetti, Roland D. Eavey, Carrie L. Heike, Jonathan G. Seidman, Christine E. Seidman

Genet Med. Author manuscript; available in PMC 2023 Jan 30.

Published in final edited form as: Genet Med. 2023 Jan; 25(1): 143–150. Published online 2022 Oct 19. doi: 10.1016/j.gim.2022.09.005

PMCID:: PMC9885525

Abstract Article PDF–1.0M

Select item 97496508.

SARS-CoV-2 infection and persistence in the human body and brain at autopsy

Sydney R. Stein, Sabrina C. Ramelli, Alison Grazioli, Joon-Yong Chung, Manmeet Singh, Claude Kwe Yinda, Clayton W. Winkler, Junfeng Sun, James M. Dickey, Kris Ylaya, Sung Hee Ko, Andrew P. Platt, Peter D. Burbelo, Martha Quezado, Stefania Pittaluga, Madeleine Purcell, Vincent J. Munster, Frida Belinky, Marcos J. Ramos-Benitez, Eli A. Boritz, Izabella A. Lach, Daniel L. Herr, Joseph Rabin, Kapil K. Saharia, Ronson J. Madathil, Ali Tabatabai, Shahabuddin Soherwardi, Michael T. McCurdy, NIH COVID-19 Autopsy Consortium, Karin E. Peterson, Jeffrey I. Cohen, Emmie de Wit, Kevin M. Vannella, Stephen M. Hewitt, David E. Kleiner, Daniel S. Chertow

Nature. 2022; 612(7941): 758–763. Published online 2022 Dec 14. doi: 10.1038/s41586-022-05542-y

PMCID:: PMC9749650

Abstract Article PDF–26M

Select item 96755649.

Molecular and behavioral consequences of Ube3a gene overdosage in mice

A. Mattijs Punt, Matthew C. Judson, Michael S. Sidorov, Brittany N. Williams, Naomi S. Johnson, Sabine Belder, Dion den Hertog, Courtney R. Davis, Maximillian S. Feygin, Patrick F. Lang, Mehrnoush Aghadavoud Jolfaei, Patrick J. Curran, Wilfred F.J. van IJcken, Ype Elgersma, Benjamin D. Philpot

JCI Insight. 2022 Sep 22; 7(18): e158953. Published online 2022 Sep 22. doi: 10.1172/jci.insight.158953

PMCID:: PMC9675564

Abstract Article PDF–7.9M

Select item 928729710.

Can Automated Alerts in the Electronic Health Record Encourage Referrals for Genetic Counseling and Testing Among Patients at High Risk for Hereditary Cancer Syndromes?

Kristin K. Zorn, Melinda E. Simonson, Jennifer L. Faulkner, Cyndee L. Carr, Joshua Acuna, Tiffany L. Hall, John F. Jenkins, Karen L. Drummond, Geoffrey M. Curran

JCO Oncol Pract. 2022 Jul; 18(7): e1219–e1224. Published online 2022 Mar 22. doi: 10.1200/OP.21.00641

PMCID:: PMC9287297

Abstract Article PDF–460K

Select item 867413811.

Genomic reconstruction of the SARS-CoV-2 epidemic in England

Harald S. Vöhringer, Theo Sanderson, Matthew Sinnott, Nicola De Maio, Thuy Nguyen, Richard Goater, Frank Schwach, Ian Harrison, Joel Hellewell, Cristina V. Ariani, Sonia Gonçalves, David K. Jackson, Ian Johnston, Alexander W. Jung, Callum Saint, John Sillitoe, Maria Suciu, Nick Goldman, Jasmina Panovska-Griffiths, The Wellcome Sanger Institute COVID-19 Surveillance Team, The COVID-19 Genomics UK (COG-UK) Consortium*, Ewan Birney, Erik Volz, Sebastian Funk, Dominic Kwiatkowski, Meera Chand, Inigo Martincorena, Jeffrey C. Barrett, Moritz Gerstung

Nature. 2021; 600(7889): 506–511. Published online 2021 Oct 14. doi: 10.1038/s41586-021-04069-y

Correction in:: Nature. 2022; 606(7915): E18.

PMCID:: PMC8674138

Abstract Article PDF–13M

Select item 828683612.

Identifying SARS-CoV-2 antiviral compounds by screening for small molecule inhibitors of Nsp5 main protease

Jennifer C. Milligan, Theresa U. Zeisner, George Papageorgiou, Dhira Joshi, Christelle Soudy, Rachel Ulferts, Mary Wu, Chew Theng Lim, Kang Wei Tan, Florian Weissmann, Berta Canal, Ryo Fujisawa, Tom Deegan, Hema Nagaraj, Ganka Bineva-Todd, Clovis Basier, Joseph F. Curran, Michael Howell, Rupert Beale, Karim Labib, Nicola O'Reilly, John F.X. Diffley

Biochem J. 2021 Jul 16; 478(13): 2499–2515. Prepublished online 2021 May 10. Published online 2021 Jul 2. doi: 10.1042/BCJ20210197

PMCID:: PMC8286836

Abstract Article PDF–4.3M

Select item 818518813.

Recurrent emergence of SARS-CoV-2 spike deletion H69/V70 and its role in the Alpha variant B.1.1.7

Bo Meng, Steven A. Kemp, Guido Papa, Rawlings Datir, Isabella A.T.M. Ferreira, Sara Marelli, William T. Harvey, Spyros Lytras, Ahmed Mohamed, Giulia Gallo, Nazia Thakur, Dami A. Collier, Petra Mlcochova, The COVID-19 Genomics UK (COG-UK) Consortium, Lidia M. Duncan, Alessandro M. Carabelli, Julia C. Kenyon, Andrew M. Lever, Anna De Marco, Christian Saliba, Katja Culap, Elisabetta Cameroni, Nicholas J. Matheson, Luca Piccoli, Davide Corti, Leo C. James, David L. Robertson, Dalan Bailey, Ravindra K. Gupta

Cell Rep. 2021 Jun 29; 35(13): 109292. Published online 2021 Jun 8. doi: 10.1016/j.celrep.2021.109292

PMCID:: PMC8185188

Abstract Article PDF–4.4M

Select item 802223914.

A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants

Samuel J.R.A. Chawner, Joanne L. Doherty, Richard Anney, Kevin M. Antshel, Leila Kushan, Carrie E. Bearden, Raphael Bernier, Wendy K. Chung, Caitlin C. Clements, Sarah R. Curran, Goran Cuturilo, Ania M. Fiksinski, Louise Gallagher, Robin P. Goin-Kochel, Leila Kushan, Raquel E. Gur, Ellen Hanson, Sebastien Jacquemont, Wendy R. Kates, Anne M. Maillard, Donna M. McDonald-McGinn, Marina Mihaljevic, Judith S Miller, Hayley Moss, Milica Pejovic-Milovancevic, Robert T. Schultz, LeeAnne Green-Snyder, Jacob A. Vorstman, Tara L. Wenger, IMAGINE-ID Consortium, Jeremy Hall, Michael J. Owen, Marianne B.M. van den Bree

Am J Psychiatry. Author manuscript; available in PMC 2021 Jul 1.

Published in final edited form as: Am J Psychiatry. 2021 Jan 1; 178(1): 77–86. doi: 10.1176/appi.ajp.2020.20010015

PMCID:: PMC8022239

Abstract Article PDF–579K

Select item 796573315.

Bilateral Complete Labyrinthine Aplasia with Bilateral Internal Carotid Artery Aplasia, Developmental Delay, and Gaze Abnormalities: A Presumptive Case of a Rare HOXA1 Mutation Syndrome

M.J. Higley, T.W. Walkiewicz, J.H. Miller, J.G. Curran, R.B. Towbin

AJNR Am J Neuroradiol. 2011 Feb; 32(2): E23–E25. doi: 10.3174/ajnr.A1969

PMCID:: PMC7965733

Abstract Article PDF–345K

Select item 780651116.

Rapid implementation of SARS-CoV-2 sequencing to investigate cases of health-care associated COVID-19: a prospective genomic surveillance study

Luke W Meredith, William L Hamilton, Ben Warne, Charlotte J Houldcroft, Myra Hosmillo, Aminu S Jahun, Martin D Curran, Surendra Parmar, Laura G Caller, Sarah L Caddy, Fahad A Khokhar, Anna Yakovleva, Grant Hall, Theresa Feltwell, Sally Forrest, Sushmita Sridhar, Michael P Weekes, Stephen Baker, Nicholas Brown, Elinor Moore, Ashley Popay, Iain Roddick, Mark Reacher, Theodore Gouliouris, Sharon J Peacock, Gordon Dougan, M Estée Török, Ian Goodfellow

Lancet Infect Dis. 2020 Nov; 20(11): 1263–1271. Published online 2020 Jul 14. doi: 10.1016/S1473-3099(20)30562-4

Correction in:: Lancet Infect Dis. 2021 Mar; 21(3): e36.

Correction in:: Lancet Infect Dis. 2021 Mar; 21(3): e36.

PMCID:: PMC7806511

Abstract Article PDF–1.4M

Select item 777144817.

Performance Evaluation of the SAMBA II SARS-CoV-2 Test for Point-of-Care Detection of SARS-CoV-2

Sonny M. Assennato, Allyson V. Ritchie, Cesar Nadala, Neha Goel, Cuijuan Tie, Lourdes M. Nadala, Hongyi Zhang, Rawlings Datir, Ravindra K. Gupta, Martin D. Curran, Helen H. Lee

J Clin Microbiol. 2021 Jan; 59(1): e01262-20. Prepublished online 2020 Oct 13. Published online 2020 Dec 17. doi: 10.1128/JCM.01262-20

PMCID:: PMC7771448

Abstract Article PDF–347K

Select item 761056818.

SARS-CoV-2 evolution during treatment of chronic infection

Steven A Kemp, Dami A Collier, Rawlings P Datir, Isabella ATM Ferreira, Salma Gayed, Aminu Jahun, Myra Hosmillo, Chloe Rees-Spear, Petra Mlcochova, Ines Ushiro Lumb, David J Roberts, Anita Chandra, Nigel Temperton, The CITIID-NIHR BioResource COVID-19 Collaboration , The COVID-19 Genomics UK (COG-UK) Consortium , Katherine Sharrocks, Elizabeth Blane, Yorgo Modis, Kendra Leigh, John Briggs, Marit van Gils, Kenneth GC Smith, John R Bradley, Chris Smith, Rainer Doffinger, Lourdes Ceron-Gutierrez, Gabriela Barcenas-Morales, David D Pollock, Richard A Goldstein, Anna Smielewska, Jordan P Skittrall, Theodore Gouliouris, Ian G Goodfellow, Effrossyni Gkrania-Klotsas, Christopher JR Illingworth, Laura E McCoy, Ravindra K Gupta

Nature. Author manuscript; available in PMC 2021 Apr 10.

Published in final edited form as: Nature. 2021 Apr 1; 592(7853): 277–282. Published online 2021 Feb 5. doi: 10.1038/s41586-021-03291-y

Correction in:: Nature. 2022; 608(7922): E23.

PMCID:: PMC7610568

Abstract Article PDF–3.3M

Select item 755448119.

Specificity and positive predictive value of SARS-CoV-2 nucleic acid amplification testing in a low-prevalence setting

Jordan P. Skittrall, Michael Wilson, Anna A. Smielewska, Surendra Parmar, Mary D. Fortune, Dominic Sparkes, Martin D. Curran, Hongyi Zhang, Hamid Jalal

Clin Microbiol Infect. 2021 Mar; 27(3): 469.e9–469.e15. Published online 2020 Oct 14. doi: 10.1016/j.cmi.2020.10.003

PMCID:: PMC7554481

Abstract Article PDF–665K

Select item 751646820.

Intestinal Inflammation Modulates the Expression of ACE2 and TMPRSS2 and Potentially Overlaps With the Pathogenesis of SARS-CoV-2–related Disease

Mayte Suárez-Fariñas, Minami Tokuyama, Gabrielle Wei, Ruiqi Huang, Alexandra Livanos, Divya Jha, Anais Levescot, Haritz Irizar, Roman Kosoy, Sascha Cording, Wenhui Wang, Bojan Losic, Ryan C. Ungaro, Antonio Di’Narzo, Gustavo Martinez-Delgado, Maria Suprun, Michael J. Corley, Aleksandar Stojmirovic, Sander M. Houten, Lauren Peters, Mark Curran, Carrie Brodmerkel, Jacqueline Perrigoue, Joshua R. Friedman, Ke Hao, Eric E. Schadt, Jun Zhu, Huaibin M. Ko, Judy Cho, Marla C. Dubinsky, Bruce E. Sands, Lishomwa Ndhlovu, Nadine Cerf-Bensusan, Andrew Kasarskis, Jean-Frederic Colombel, Noam Harpaz, Carmen Argmann, Saurabh Mehandru

Gastroenterology. 2021 Jan; 160(1): 287–301.e20. Published online 2020 Sep 25. doi: 10.1053/j.gastro.2020.09.029