Journal of Medical Genetics: 53 (11)

November 2016 - Volume 53 - 11

Cancer genetics

An interstitial deletion within 9p21.3 and extending beyond CDKN2A predisposes to melanoma, neural system tumours and possible haematological malignancies
(21 January, 2016) Free
Maria J Baker, Alisa M Goldstein, Patricia L Gordon, Kimberly S Harbaugh, Heath B Mackley, Michael J Glantz, Joseph J Drabick
Germline RRAS2 mutations are not associated with Noonan syndrome
(7 April, 2016)
John J Ceremsak, Ariel Yu, Emilio Esquivel, Christina Lissewski, Martin Zenker, Mignon L Loh, Elliot Stieglitz
Original article:
New insights in the molecular signature of advanced medullary thyroid cancer: evidence of a bad outcome of cases with double RET mutations
(28 July, 2016)
Cristina Romei, Francesca Casella, Alessia Tacito, Valeria Bottici, Laura Valerio, David Viola, Virginia Cappagli, Antonio Matrone, Raffaele Ciampi, Paolo Piaggi, Clara Ugolini, Liborio Torregrossa, Fulvio Basolo, Gabriele Materazzi, Paolo Vitti, Rossella Elisei

Cognitive and behavioural genetics

Original article:
Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly
(14 July, 2016)
Reuben J Pengelly, Stephanie Greville-Heygate, Susanne Schmidt, Eleanor G Seaby, M Reza Jabalameli, Sarju G Mehta, Michael J Parker, David Goudie, Christine Fagotto-Kaufmann, Catherine Mercer, the DDD Study, Anne Debant, Sarah Ennis, Diana Baralle

Developmental defects

Original article:
SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort
(17 June, 2016)
Camille Tlemsani, Armelle Luscan, Nicolas Leulliot, Eric Bieth, Alexandra Afenjar, Geneviève Baujat, Martine Doco-Fenzy, Alice Goldenberg, Didier Lacombe, Laetitia Lambert, Sylvie Odent, Jérôme Pasche, Sabine Sigaudy, Alexandre Buffet, Céline Violle-Poirsier, Audrey Briand-Suleau, Ingrid Laurendeau, Magali Chin, Pascale Saugier-Veber, Dominique Vidaud, Valérie Cormier-Daire, Michel Vidaud, Eric Pasmant, Lydie Burglen
Original article:
Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS
(29 June, 2016)
Estelle Lopez, Marie Berenguer, Angèle Tingaud-Sequeira, Sandrine Marlin, Annick Toutain, Françoise Denoyelle, Arnaud Picard, Sabine Charron, Guilaine Mathieu, Harmony de Belvalet, Benoit Arveiler, Patrick J Babin, Didier Lacombe, Caroline Rooryck

Genotype-phenotype correlations

Original article: Molecular findings from 537 individuals with inherited retinal disease (11 May, 2016)
Jamie M Ellingford, Stephanie Barton, Sanjeev Bhaskar, James O'Sullivan, Simon G Williams, Janine A Lamb, Binay Panda, Panagiotis I Sergouniotis, Rachel L Gillespie, Stephen P Daiger, Georgina Hall, Theodora Gale, I Christopher Lloyd, Paul N Bishop, Simon C Ramsden, Graeme C M Black
Original article:
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
(13 July, 2016)
Yi Shiau Ng, Charlotte L Alston, Daria Diodato, Andrew A Morris, Nicole Ulrick, Stanislav Kmoch, Josef Houštěk, Diego Martinelli, Alireza Haghighi, Mehnaz Atiq, Montserrat Anton Gamero, Elena Garcia-Martinez, Hana Kratochvílová, Saikat Santra, Ruth M Brown, Garry K Brown, Nicola Ragge, Ahmad Monavari, Karen Pysden, Kirstine Ravn, Jillian P Casey, Arif Khan, Anupam Chakrapani, Grace Vassallo, Cas Simons, Karl McKeever, Siobhan O'Sullivan, Anne-Marie Childs, Elsebet Østergaard, Adeline Vanderver, Amy Goldstein, Julie Vogt, Robert W Taylor, Robert McFarland
Original article:
Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation
(22 June, 2016)
Clara Soria-Valles, Dido Carrero, Elisabeth Gabau, Gloria Velasco, Víctor Quesada, Clea Bárcena, Marleen Moens, Karen Fieggen, Silvia Möhrcken, Martina Owens, Diana A Puente, Óscar Asensio, Bart Loeys, Ana Pérez, Valerie Benoit, Wim Wuyts, Nicolas Lévy, Raoul C Hennekam, Annachiara De Sandre-Giovannoli, Carlos López-Otín

New loci

Short report:
KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability
(31 August, 2016)
Namik Kaya, Maysoon Alsagob, Maria Cristina D'Adamo, Albandary Al-Bakheet, Sonia Hasan, Maria Muccioli, Faten B Almutairi, Rawan Almass, Mazhor Aldosary, Dorota Monies, Osama M Mustafa, Banan Alyounes, Rosan Kenana, Jawaher Al-Zahrani, Eva Naim, Faisal S Binhumaid, Alya Qari, Fatema Almutairi, Brian Meyer, Timothy F Plageman, Mauro Pessia, Dilek Colak, Mohammed Al-Owain

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Table of contents

November 2016 - Volume 53 - 11

Cancer genetics

Cognitive and behavioural genetics

Developmental defects

Genotype-phenotype correlations

New loci

Issue Information

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Table of contents

November 2016 - Volume 53 - 11

Cancer genetics

Cognitive and behavioural genetics

Developmental defects

Genotype-phenotype correlations

New loci

Issue Information