Journal of Medical Genetics: 57 (3)

Clinical guidelines

Original research: Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome (10 September, 2019)
Martina Fanella, Marianna Frascarelli, Caterina Lambiase, Alessandra Morano, Marta Unolt, Natascia Liberati, Jinane Fattouch, Antonino Buzzanca, Tommaso Accinni, Marco Ceccanti, Alessandro Viganò, Massimo Biondi, Claudio Colonnese, Anna Teresa Giallonardo, Fabio Di Fabio, Antonio Pizzuti, Carlo Di Bonaventura, Alfredo Berardelli

Original research:
Increasing knowledge in IGF1R defects: lessons from 35 new patients
(5 October, 2019)
Eloïse Giabicani, Marjolaine Willems, Virginie Steunou, Sandra Chantot-Bastaraud, Nathalie Thibaud, Walid Abi Habib, Salah Azzi, Bich Lam, Laurence Bérard, Hélène Bony-Trifunovic, Cécile Brachet, Elise Brischoux-Boucher, Emmanuelle Caldagues, Regis Coutant, Marie-Laure Cuvelier, Georges Gelwane, Isabelle Guemas, Muriel Houang, Bertrand Isidor, Claire Jeandel, James Lespinasse, Catherine Naud-Saudreau, Monique Jesuran-Perelroizen, Laurence Perrin, Juliette Piard, Claire Sechter, Pierre-François Souchon, Caroline Storey, Domitille Thomas, Yves Le Bouc, Sylvie Rossignol, Irène Netchine, Frédéric Brioude
Original research: Genetic aetiology of early infant deaths in a neonatal intensive care unit (9 September, 2019)
Lin Yang, Xu Liu, Zixiu Li, Peng Zhang, Bingbing Wu, Huijun Wang, Liyuan Hu, Guoqiang Cheng, Laishuan Wang, Wenhao Zhou

Original research:
Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation
(11 September, 2019)
Antonis Ververis, Rana Dajani, Pantelitsa Koutsou, Ahmad Aloqaily, Carol Nelson-Williams, Erin Loring, Ala Arafat, Ammar Fayez Mubaidin, Khalid Horany, Mai B Bader, Yaqoub Al-Baho, Bushra Ali, Abdurrahman Muhtaseb, Tyrone DeSpenza Jr, Abdelkarim A Al-Qudah, Lefkos T Middleton, Eleni Zamba-Papanicolaou, Richard Lifton, Kyproula Christodoulou

Original research:
Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest
(8 November, 2019)
Wenjing Wang, Jie Dong, Biaobang Chen, Jing Du, Yanping Kuang, Xiaoxi Sun, Jing Fu, Bin Li, Jian Mu, Zhihua Zhang, Zhou Zhou, Zhao Lin, Ling Wu, Zheng Yan, Xiaoyan Mao, Qiaoli Li, Lin He, Lei Wang, Qing Sang

Original research:
Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome
(29 November, 2019)
Karen M Knapp, Rosie Sullivan, Jennie Murray, Gregory Gimenez, Pamela Arn, Precilla D'Souza, Alper Gezdirici, William G Wilson, Andrew P Jackson, Carlos Ferreira, Louise S Bicknell

Original research:
NEK11 as a candidate high-penetrance melanoma susceptibility gene
(8 November, 2019) Free
Eirini Christodoulou, Remco van Doorn, Mijke Visser, Amina Teunisse, Mieke Versluis, Pieter van der Velden, Nicholas K Hayward, Aart Jochemsen, Nelleke Gruis

Short report: Postzygotic mosaicism in cerebral cavernous malformation (24 August, 2019)
Matthias Rath, Axel Pagenstecher, Alexander Hoischen, Ute Felbor