Imprinting

Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome
Yue Huang, Katheryn Grand, Virginia Kimonis, Merlin G Butler, Suparna Jain, Alden Yen-Wen Huang, Julian A Martinez-Agosto, Stanley F Nelson, Pedro A Sanchez-Lara

Journal of Medical Genetics Jul 2022, 59 (7) 719-722; DOI: 10.1136/jmedgenet-2020-107674
Hypomethylation of a centromeric block of ICR1 is sufficient to cause Silver-Russell syndrome
Ken Higashimoto, Hijiri Watanabe, Yuka Tanoue, Hidefumi Tonoki, Tomoharu Tokutomi, Satoshi Hara, Hitomi Yatsuki, Hidenobu Soejima

Journal of Medical Genetics Jun 2021, 58 (6) 422-425; DOI: 10.1136/jmedgenet-2020-106907
Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting
Thomas Eggermann, Florian Kraft, Eva Lausberg, Katrin Ergezinger, Erdmute Kunstmann

Journal of Medical Genetics Mar 2021, 58 (3) 173-176; DOI: 10.1136/jmedgenet-2020-106868
Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome
Samuel W Baker, Kelly A Duffy, Jennifer Richards-Yutz, Matthew A Deardorff, Jennifer M Kalish, Arupa Ganguly

Journal of Medical Genetics Mar 2021, 58 (3) 178-184; DOI: 10.1136/jmedgenet-2019-106498
Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood
Oluwakemi Lokulo-Sodipe, Lisa Ballard, Jenny Child, Hazel M Inskip, Christopher D Byrne, Miho Ishida, Gudrun E Moore, Emma L Wakeling, Angela Fenwick, Deborah J G Mackay, Justin Huw Davies, I Karen Temple

Journal of Medical Genetics Oct 2020, 57 (10) 683-691; DOI: 10.1136/jmedgenet-2019-106561
Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay
Kit San Yeung, Matthew Sai Pong Ho, So Lun Lee, Anita Sik Yau Kan, Kelvin Yuen Kwong Chan, Mary Hoi Yin Tang, Christopher Chun Yu Mak, Gordon Ka Chun Leung, Po Lam So, Rolph Pfundt, Christian R Marshall, Stephen W Scherer, Sanaa Choufani, Rosanna Weksberg, Brian Hon-Yin Chung

Journal of Medical Genetics Dec 2018, 55 (12) 847-852; DOI: 10.1136/jmedgenet-2018-105328
A familial disorder of altered DNA-methylation
Almuth Caliebe, Julia Richter, Ole Ammerpohl, Deniz Kanber, Jasmin Beygo, Susanne Bens, Andrea Haake, Eva Jüttner, Bernhard Korn, Deborah J G Mackay, José I Martin-Subero, Inga Nagel, Neil J Sebire, Larissa Seidmann, Inga Vater, Constantin Sylvius von Kaisenberg, I Karen Temple, Bernhard Horsthemke, Karin Buiting, Reiner Siebert

Journal of Medical Genetics Jun 2014, 51 (6) 407-412; DOI: 10.1136/jmedgenet-2013-102149
Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes
Louise E Docherty, Faisal I Rezwan, Rebecca L Poole, Hannah Jagoe, Hannah Lake, Gabrielle A Lockett, Hasan Arshad, David I Wilson, John W Holloway, I Karen Temple, Deborah J G Mackay

Journal of Medical Genetics Apr 2014, 51 (4) 229-238; DOI: 10.1136/jmedgenet-2013-102116
Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases
Yiannis Ioannides, Kemi Lokulo-Sodipe, Deborah J G Mackay, Justin H Davies, I Karen Temple

Journal of Medical Genetics Aug 2014, 51 (8) 495-501; DOI: 10.1136/jmedgenet-2014-102396
Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith–Wiedemann syndrome upon maternal transmission
Julie Demars, Mansur Ennuri Shmela, Abdul Waheed Khan, Kai Syin Lee, Salah Azzi, Patrice Dehais, Irène Netchine, Sylvie Rossignol, Yves Le Bouc, Assam El-Osta, Christine Gicquel

Journal of Medical Genetics Aug 2014, 51 (8) 502-511; DOI: 10.1136/jmedgenet-2014-102368

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