Journal of Medical Genetics: 54 (2)

Mitochondrial genetics

De novo mtDNA point mutations are common and have a low recurrence risk (22 July, 2016)
Suzanne C E H Sallevelt, Christine E M de Die-Smulders, Alexandra T M Hendrickx, Debby M E I Hellebrekers, Irenaeus F M de Coo, Charlotte L Alston, Charlotte Knowles, Robert W Taylor, Robert McFarland, Hubert J M Smeets

De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia
(7 July, 2016)
Esther R Berko, Megan T Cho, Christine Eng, Yunru Shao, David A Sweetser, Jessica Waxler, Nathaniel H Robin, Fallon Brewer, Sandra Donkervoort, Payam Mohassel, Carsten G Bönnemann, Martin Bialer, Christine Moore, Lynne A Wolfe, Cynthia J Tifft, Yufeng Shen, Kyle Retterer, Francisca Millan, Wendy K Chung
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing (12 September, 2016)
Francisco Martínez, Alfonso Caro-Llopis, Mónica Roselló, Silvestre Oltra, Sonia Mayo, Sandra Monfort, Carmen Orellana

Original article:
Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome
(31 August, 2016)
Pauline Arnaud, Nadine Hanna, Mélodie Aubart, Bruno Leheup, Sophie Dupuis-Girod, Sophie Naudion, Didier Lacombe, Olivier Milleron, Sylvie Odent, Laurence Faivre, Laurence Bal, Thomas Edouard, Gwenaëlle Collod-Beroud, Maud Langeois, Myrtille Spentchian, Laurent Gouya, Guillaume Jondeau, Catherine Boileau

Original Article: The impact of a panel of 18 SNPs on breast cancer risk in women attending a UK familial screening clinic: a case–control study (28 October, 2016)
D Gareth Evans, Adam Brentnall, Helen Byers, Elaine Harkness, Paula Stavrinos, Anthony Howell, FH-risk study Group, William G Newman, Jack Cuzick

The cerebellum and embodied semantics: evidence from a case of genetic ataxia due to STUB1 mutations
(3 November, 2016)
Adolfo M García, Sofía Abrevaya, Giselle Kozono, Indira García Cordero, Marta Córdoba, Marcelo Andrés Kauffman, Ricardo Pautassi, Edinson Muñoz, Lucas Sedeño, Agustín Ibáñez

Short report:
Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma
(17 November, 2016)
Nelly Burnichon, Jean-Michaël Mazzella, Delphine Drui, Laurence Amar, Jérôme Bertherat, Isabelle Coupier, Brigitte Delemer, Isabelle Guilhem, Philippe Herman, Véronique Kerlan, Antoine Tabarin, Nelly Wion, Khadija Lahlou-Laforet, Judith Favier, Anne-Paule Gimenez-Roqueplo