Genetics

Multi-centre analytical performance verification of an IVD assay to quantify donor-derived cell-free DNA in solid organ transplant recipients

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HLA. 2024 May;103(5):e15518. DOI: 10.1111/tan.15518

Sílvia Casas, Narin S Tangprasertchai, Katerina Oikonomaki, Simon Mathers, Zuleika Calderin Sollet, Stavroula Samara, June Liu, Natalia Diaz Burlinson, Pantelis Constantoulakis, Jean Villard, Thierry Viard

https://pubmed.ncbi.nlm.nih.gov/38733247/

Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits

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Nat Genet. 2024 Apr 30. DOI: 10.1038/s41588-024-01714-w Online ahead of print.

Jacob M Keaton#, Zoha Kamali#, Tian Xie#, Ahmad Vaez, Ariel Williams, Slavina B Goleva, Alireza Ani, Evangelos Evangelou, Jacklyn N Hellwege, Loic Yengo, William J Young, Matthew Traylor, Ayush Giri, Zhili Zheng, Jian Zeng, Daniel I Chasman, Andrew P Morris, Mark J Caulfield, Shih-Jen Hwang, Jaspal S Kooner, David Conen, John R Attia, Alanna C Morrison, Ruth J F Loos, Kati Kristiansson, Reinhold Schmidt, Andrew A Hicks, Peter P Pramstaller, Christopher P Nelson, Nilesh J Samani, Lorenz Risch, Ulf Gyllensten, Olle Melander, Harriette Riese, James F Wilson, Harry Campbell, Stephen S Rich, Bruce M Psaty, Yingchang Lu, Jerome I Rotter, Xiuqing Guo, Kenneth M Rice, Peter Vollenweider, Johan Sundström, Claudia Langenberg, Martin D Tobin, Vilmantas Giedraitis, Jian’an Luan, Jaakko Tuomilehto, Zoltan Kutalik, Samuli Ripatti, Veikko Salomaa, Giorgia Girotto, Stella Trompet, J Wouter Jukema, Pim van der Harst, Paul M Ridker, Franco Giulianini, Veronique Vitart, Anuj Goel, Hugh Watkins, Sarah E Harris, Ian J Deary, Peter J van der Most, Albertine J Oldehinkel, Bernard D Keavney, Caroline Hayward, Archie Campbell, Michael Boehnke, Laura J Scott, Thibaud Boutin, Chrysovalanto Mamasoula, Marjo-Riitta Järvelin, Annette Peters, Christian Gieger, Edward G Lakatta, Francesco Cucca, Jennie Hui, Paul Knekt, Stefan Enroth, Martin H De Borst, Ozren Polašek, Maria Pina Concas, Eulalia Catamo, Massimiliano Cocca, Ruifang Li-Gao, Edith Hofer, Helena Schmidt, Beatrice Spedicati, Melanie Waldenberger, David P Strachan, Maris Laan, Alexander Teumer, Marcus Dörr, Vilmundur Gudnason, James P Cook, Daniela Ruggiero, Ivana Kolcic, Eric Boerwinkle, Michela Traglia, Terho Lehtimäki, Olli T Raitakari, Andrew D Johnson, Christopher Newton-Cheh, Morris J Brown, Anna F Dominiczak, Peter J Sever, Neil Poulter, John C Chambers, Roberto Elosua, David Siscovick, Tõnu Esko, Andres Metspalu, Rona J Strawbridge, Markku Laakso, Anders Hamsten, Jouke-Jan Hottenga, Eco de Geus, Andrew D Morris, Colin N A Palmer, Ilja M Nolte, Yuri Milaneschi, Jonathan Marten, Alan Wright, Eleftheria Zeggini, Joanna M M Howson, Christopher J O’Donnell, Tim Spector, Mike A Nalls, Eleanor M Simonsick, Yongmei Liu, Cornelia M van Duijn, Adam S Butterworth, John N Danesh, Cristina Menni, Nicholas J Wareham, Kay-Tee Khaw, Yan V Sun, Peter W F Wilson, Kelly Cho, Peter M Visscher, Joshua C Denny; Million Veteran Program; Lifelines Cohort Study; CHARGE consortium; ICBP Consortium; Daniel Levy, Todd L Edwards, Patricia B Munroe, Harold Snieder, Helen R Warren

https://pubmed.ncbi.nlm.nih.gov/38689001/

Challenges in developing and implementing international best practice guidance for intermediate-risk variants in cancer susceptibility genes:APC c.3920T>A p.(Ile1307Lys) as an exemplar

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J Med Genet. 2024 May 2:jmg-2024-109900. DOI: 10.1136/jmg-2024-109900 Online ahead of print.

Terri Patricia McVeigh, Fiona Lalloo, Ian M Frayling, Andrew Latchford, Katie Snape, Miranda Durkie, Kevin J Monahan, Helen Hanson

https://pubmed.ncbi.nlm.nih.gov/38697781/

Genetic Diagnosis of Retinoblastoma Using Aqueous Humour-Findings from an Extended Cohort

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Cancers (Basel). 2024 Apr 19;16(8):1565. DOI: 10.3390/cancers16081565

Amy Gerrish, Chipo Mashayamombe-Wolfgarten, Edward Stone, Claudia Román-Montañana, Joseph Abbott, Helen Jenkinson, Gerard Millen, Sam Gurney, Maureen McCalla, Sarah-Jane Staveley, Anu Kainth, Maria Kirk, Claire Bowen, Susan Cavanagh, Sancha Bunstone, Megan Carney, Ajay Mohite, Samuel Clokie, M Ashwin Reddy, Alison Foster, Stephanie Allen, Manoj Parulekar, Trevor Cole

https://pubmed.ncbi.nlm.nih.gov/38672657

Genetic imputation of kidney transcriptome, proteome and multi-omics illuminates new blood pressure and hypertension targets

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Nat Commun. 2024 Mar 19;15(1):2359. DOI: 10.1038/s41467-024-46132-y

Xiaoguang Xu, Chachrit Khunsriraksakul, James M Eales, Sebastien Rubin, David Scannali, Sushant Saluja, David Talavera, Havell Markus, Lida Wang, Maciej Drzal, Akhlaq Maan, Abigail C Lay, Priscilla R Prestes, Jeniece Regan, Avantika R Diwadkar, Matthew Denniff, Grzegorz Rempega, Jakub Ryszawy, Robert Król, John P Dormer, Monika Szulinska, Marta Walczak, Andrzej Antczak, Pamela R Matías-García, Melanie Waldenberger, Adrian S Woolf, Bernard Keavney, Ewa Zukowska-Szczechowska, Wojciech Wystrychowski, Joanna Zywiec, Pawel Bogdanski, A H Jan Danser, Nilesh J Samani, Tomasz J Guzik, Andrew P Morris, Dajiang J Liu, Fadi J Charchar; Human Kidney Tissue Resource Study Group; Maciej Tomaszewski

https://pubmed.ncbi.nlm.nih.gov/38504097

Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide

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Mol Genet Metab. 2024 Mar 22;142(1):108436. DOI: 10.1016/j.ymgme.2024.108436 Online ahead of print

Soumeya Bekri, Annette Bley, Heather A Brown, Charlotte Chanson, Heather J Church, Michael H Gelb, Xinying Hong, Nils Janzen, David C Kasper, Thomas Mechtler, Georgina Morton, Simona Murko, Petra Oliva, Abdellah Tebani, Teresa H Y Wu

https://pubmed.ncbi.nlm.nih.gov/38552449

EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer

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Eur J Hum Genet. 2024 Mar 5. DOI: 10.1038/s41431-023-01507-5 Online ahead of print.

Trudi McDevitt#, Miranda Durkie#, Norbert Arnold, George J Burghel, Samantha Butler, Kathleen B M Claes, Peter Logan, Rachel Robinson, Katie Sheils, Nicola Wolstenholme, Helen Hanson, Clare Turnbull, Stacey Hume#

https://pubmed.ncbi.nlm.nih.gov/38443545

Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability

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J Med Genet. 2024 Mar 8:jmg-2023-109728. DOI: 10.1136/jmg-2023-109728 Online ahead of print.

Claire E L Smith#, Virginie Laugel-Haushalter#, Ummey Hany, Sunayna Best, Rachel L Taylor, James A Poulter, Saskia B Wortmann, Rene G Feichtinger, Johannes A Mayr, Suhaila Al Bahlani, Georgios Nikolopoulos, Alice Rigby, Graeme C Black, Christopher M Watson, Sahar Mansour, Chris F Inglehearn, Alan J Mighell#, Agnès Bloch-Zupan#; UK Inherited Retinal Disease Consortium, Genomics England Research Consortium

https://pubmed.ncbi.nlm.nih.gov/38458752

Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment

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Mol Genet Metab. 2024 Feb 20;142(1):108349. DOI: 10.1016/j.ymgme.2024.108349 Online ahead of print.

Teresa H Y Wu, Heather A Brown, Heather J Church, Christopher J Kershaw, Rebekah Hutton, Christine Egerton, James Cooper, Karen Tylee, Rebecca N Cohen, David Gokhale, Dipak Ram, Georgina Morton, Michael Henderson, Brian W Bigger, Simon A Jones

https://pubmed.ncbi.nlm.nih.gov/38458124