You are here

Genomics

  • Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders
    Kevin Riquin, Bertrand Isidor, Sandra Mercier, Mathilde Nizon, Estelle Colin, Dominique Bonneau, Laurent Pasquier, Sylvie Odent, Xavier Maximin Le Guillou Horn, Gwenaël Le Guyader, Annick Toutain, Vincent Meyer, Jean-François Deleuze, Olivier Pichon, Martine Doco-Fenzy, Stéphane Bézieau, Benjamin Cogné
    Journal of Medical Genetics Jan 2024, 61 (1) 47-56; DOI: 10.1136/jmg-2023-109263
  • The Phenotypic variability of 16p11.2 distal BP2–BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples
    Marc Woodbury-Smith, Lia D’Abate, Dimitri J Stavropoulos, Jennifer Howe, Irene Drmic, Ny Hoang, Mehdi Zarrei, Brett Trost, Alana Iaboni, Evdokia Anagnostou, Stephen W Scherer
    Journal of Medical Genetics Dec 2023, 60 (12) 1153-1160; DOI: 10.1136/jmg-2022-108818
  • Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel
    Hagai Levi, Shai Carmi, Saharon Rosset, Rinat Yerushalmi, Aviad Zick, Tamar Yablonski-Peretz, The BCAC Consortium, Qin Wang, Manjeet K Bolla, Joe Dennis, Kyriaki Michailidou, Michael Lush, Thomas Ahearn, Irene L Andrulis, Hoda Anton-Culver, Antonis C Antoniou, Volker Arndt, Annelie Augustinsson, Päivi Auvinen, Laura Beane Freeman, Matthias Beckmann, Sabine Behrens, Marina Bermisheva, Clara Bodelon, Natalia V Bogdanova, Stig E Bojesen, Hermann Brenner, Helen Byers, Nicola Camp, Jose Castelao, Jenny Chang-Claude, María-Dolores Chirlaque, Wendy Chung, Christine Clarke, NBCS Collaborators, Margriet J Collee, Sarah Colonna, CTS Consortium, Fergus Couch, Angela Cox, Simon S Cross, Kamila Czene, Mary Daly, Peter Devilee, Thilo Dork, Laure Dossus, Diana M Eccles, A. Heather Eliassen, Mikael Eriksson, Gareth Evans, Peter Fasching, Olivia Fletcher, Henrik Flyger, Lin Fritschi, Marike Gabrielson, Manuela Gago-Dominguez, Montserrat García-Closas, Jose Angel Garcia-Saenz, Jeanine Genkinger, Graham G Giles, Mark Goldberg, Pascal Guénel, Per Hall, Ute Hamann, Wei He, Peter Hillemanns, Antoinette Hollestelle, Reiner Hoppe, John Hopper, ABCTB Investigators, Simona Jakovchevska, Anna Jakubowska, Helena Jernström, Esther John, Nichola Johnson, Michael Jones, Joseph Vijai, Rudolf Kaaks, Elza Khusnutdinova, Cari Kitahara, Stella Koutros, Vessela Kristensen, Allison W Kurian, James Lacey, Diether Lambrechts, Loic Le Marchand, Flavio Lejbkowicz, Annika Lindblom, Sibylle Loibl, Adriana Lori, Jan Lubinski, Arto Mannermaa, Mehdi Manoochehri, Dimitrios Mavroudis, Usha Menon, AnnaMarie Mulligan, Rachel Murphy, Ines Nevelsteen, William G Newman, Nadia Obi, Katie O'Brien, Ken Offit, Andrew Olshan, Dijana Plaseska-Karanfilska, Janet Olson, Salvatore Panico, Tjoung-Won Park-Simon, Alpa Patel, Paolo Peterlongo, Brigitte Rack, Paolo Radice, Gad Rennert, Valerie Rhenius, Atocha Romero, Emmanouil Saloustros, Dale Sandler, Marjanka K Schmidt, Lukas Schwentner, Mitul Shah, Priyanka Sharma, Jacques Simard, Melissa Southey, Jennifer Stone, William J Tapper, Jack Taylor, Lauren Teras, Amanda E Toland, Melissa Troester, Thérèse Truong, Lizet E van der Kolk, Clarice Weinberg, Camilla Wendt, Xiaohong Rose Yang, Wei Zheng, Argyrios Ziogas, Alison M Dunning, Paul Pharoah, Douglas F Easton, Shay Ben-Sachar, Naama Elefant, Ron Shamir, Ran Elkon
    Journal of Medical Genetics Dec 2023, 60 (12) 1186-1197; DOI: 10.1136/jmg-2023-109185
  • Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project
    A Rachel Moore, Jing Yu, Yang Pei, Emily W Y Cheng, Ana Lisa Taylor Tavares, Woolf T Walker, N Simon Thomas, Arveen Kamath, Rita Ibitoye, Dragana Josifova, Anna Wilsdon, Alison Ross, Alistair D Calder, Amaka C Offiah, Andrew O M Wilkie, Genomics England Research Consortium, Jenny C Taylor, Alistair T Pagnamenta
    Journal of Medical Genetics Dec 2023, 60 (12) 1235-1244; DOI: 10.1136/jmg-2023-109362
  • Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay
    Arezoo Mohajeri, Maryam Vaseghi-Shanjani, Jill A Rosenfeld, Gui Xiang Yang, Henry Lu, Mehul Sharma, Susan Lin, Areesha Salman, Meriam Waqas, Mahshid Sababi Azamian, Kim C Worley, Kate L Del Bel, Frederick K Kozak, Ronak Rahmanian, Catherine M Biggs, Kyla J Hildebrand, Seema R Lalani, Sarah K Nicholas, Daryl A Scott, Sara Mostafavi, Clara van Karnebeek, Erika Henkelman, Jessica Halparin, Connie L Yang, Linlea Armstrong, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Stuart E Turvey, Anna Lehman
    Journal of Medical Genetics Nov 2023, 60 (11) 1092-1104; DOI: 10.1136/jmg-2022-109127
  • Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigation of the PREGCARE strategy with UK clinical genetics practitioners
    Alison C Kay, Jonathan Wells, Nina Hallowell, Anne Goriely
    Journal of Medical Genetics Sep 2023, 60 (9) 925-931; DOI: 10.1136/jmg-2023-109183
  • Early breast cancer risk detection: a novel framework leveraging polygenic risk scores and machine learning
    Lynn Rose Tao, Yixuan Ye, Hongyu Zhao
    Journal of Medical Genetics Oct 2023, 60 (10) 960-964; DOI: 10.1136/jmg-2022-108582
  • Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertension
    Yline Capri, Theresa Kwon, Olivia Boyer, Lucas Bourmance, Noe Testa, Véronique Baudouin, Ronan Bonnefoy, Anne Couderc, Chakib Meziane, Elisabeth Tournier-Lasserve, Laurence Heidet, Judith Melki
    Journal of Medical Genetics Oct 2023, 60 (10) 993-998; DOI: 10.1136/jmg-2023-109176
  • EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders
    Eva Lenassi, Ana Carvalho, Anja Thormann, Liam Abrahams, Gavin Arno, Tracy Fletcher, Claire Hardcastle, Javier Lopez, Sarah E Hunt, Patrick Short, Panagiotis I Sergouniotis, Michel Michaelides, Andrew Webster, Fiona Cunningham, Simon C Ramsden, Dalia Kasperaviciute, David R Fitzpatrick, Genomics England Research Consortium, Graeme C Black, Jamie M Ellingford
    Journal of Medical Genetics Aug 2023, 60 (8) 810-818; DOI: 10.1136/jmg-2022-108618
  • Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996–2020: development of a national resource of patient-level genomics laboratory records
    Lucy Loong, Catherine Huntley, Fiona McRonald, Francesco Santaniello, Joanna Pethick, Bethany Torr, Sophie Allen, Oliver Tulloch, Shilpi Goel, Brian Shand, Tameera Rahman, Margreet Luchtenborg, Alice Garrett, Richard Barber, Tina Bedenham, David Bourn, Kirsty Bradshaw, Claire Brooks, Jonathan Bruty, George J Burghel, Samantha Butler, Chris Buxton, Alison Callaway, Jonathan Callaway, James Drummond, Miranda Durkie, Joanne Field, Lucy Jenkins, Terri P McVeigh, Roger Mountford, Rodney Nyanhete, Evgenia Petrides, Rachel Robinson, Tracy Scott, Victoria Stinton, James Tellez, Andrew J Wallace, Laura Yarram-Smith, Kate Sahan, Nina Hallowell, Diana M Eccles, Paul Pharoah, Marc Tischkowitz, Antonis C Antoniou, D Gareth Evans, Fiona Lalloo, Gail Norbury, Eva Morris, John Burn, Steven Hardy, Clare Turnbull
    Journal of Medical Genetics Jul 2023, 60 (7) 669-678; DOI: 10.1136/jmg-2022-108800

Pages