Online First

5 November 2009

Anna Antonell, Miguel Del Campo, Luis Francisco Magano, Liane Kaufmann, Jorge Martínez de la Iglesia, Fátima Gallastegui, Raquel Flores, Ulrich Schweigmann, Christine Fauth, Dieter Kotzot, and Luis Alberto Pérez-Jurado

Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile
J Med Genet Published Online First: 5 November 2009. doi:10.1136/jmg.2009.071712 [Abstract] [Accepted Manuscript] 

4 November 2009

Beatriz Lecumberri, Eduardo Fernandez-Rebollo, Lucia Sentchordi, Pilar Saavedra, Ana Bernal-Chico, Luis Felipe Pallardo, Jose Maria Jimenez Bustos, Luis Castano, Manuel De Santiago, Olaf Hiort, Guiomar Perez de Nanclares, and Murat Bastepe

Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs coding mutations and GNAS imprinting defects.
J Med Genet Published Online First: 4 November 2009. doi:10.1136/jmg.2009.071001 [Abstract] [Accepted Manuscript] 

M Willems, D Geneviève, G Borck, C Baumann, G Baujat, E Bieth, P Edery, C Farra, M Gérard, D Héron, B Leheup, M Le Merrer, S Lyonnet, D Martin-Coignard, M Mathieu, C Thauvin-Robinet, A Verloes, L Colleaux, A Munnich, and V Cormier-Daire

Molecular analysis of Pericentrin gene (PCNT) in a series of 24 Seckel/ MOPD II families
J Med Genet Published Online First: 4 November 2009. doi:10.1136/jmg.2009.067298 [Abstract] [Accepted Manuscript] 

3 November 2009

Carlos Casasnovas, Isabel Banchs, Julien Cassereau, Naig Gueguen, Arnaud Chevrollier, Juan Antonio Martínez-Matos, Dominique Bonneau, and Victor Volpini

Phenotypic Spectrum of MFN2 Mutations in the Spanish Population
J Med Genet Published Online First: 3 November 2009. doi:10.1136/jmg.2009.072488 [Abstract] [Accepted Manuscript] 

26 October 2009

Lucia Corrado, Roberto Del Bo, Barbara Castellotti, Antonia Ratti, Cristina Cereda, Silvana Penco, Gianni Sorarù, Yari Carlomagno, Serena Ghezzi, Viviana Pensato, Claudia Colombrita, Stella Gagliardi, Lorena Cozzi, Valeria Orsetti, Michelangelo Mancuso, Gabriele Siciliano, Letizia Mazzini, Giacomo Pietro Comi, Cinzia Gellera, Mauro Ceroni, Sandra D'Alfonso, and Vincenzo Silani

Mutations of FUS Gene in Sporadic Amyotrophic Lateral Sclerosis
J Med Genet Published Online First: 26 October 2009. doi:10.1136/jmg.2009.071027 [Abstract] [Accepted Manuscript] 

Homa Tajsharghi, Trond P Leren, Saba Abdul-Hussein, Mar Tulinius, Leif Brunvand, Hilde M Dahl, and Anders Oldfors

Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin-binding protein C
J Med Genet Published Online First: 26 October 2009. doi:10.1136/jmg.2009.072710 [Abstract] [Accepted Manuscript] 

Leen Abu Safieh, Mohammed Aldahmesh, Hanan Shamseldin, Mais Hashem, Ranad Shaheen, Hisham Alkuraya, Salwa Hazzaa, Ali Al-Rajhi, and Fowzan Alkuraya

Clinical and Molecular Characterization of Bardet–Biedl Syndrome in Consanguineous Populations: The Power of Homozygosity Mapping
J Med Genet Published Online First: 26 October 2009. doi:10.1136/jmg.2009.070755 [Abstract] [Accepted Manuscript] 

25 October 2009

Alan H Handyside, Gary L Harton, Brian Mariani, Alan R Thornhill, Nabeel A Affara, Marie-Anne Shaw, and Darren K Griffin

Karyomapping: a Universal Method for Genome Wide Analysis of Genetic Disease based on Mapping Crossovers between Parental Haplotypes
J Med Genet Published Online First: 25 October 2009. doi:10.1136/jmg.2009.069971 [Abstract] [Accepted Manuscript] 

21 October 2009

Valerie Hudon, Sylvie Sabourin, Anders Bondo Dydensborg, Vasiliki Kottis, Abbas Ghazi, Marilene Paquet, Kathie Crosby, Veronique Pomerleau, Norico Uetani, and Arnim Pause

Renal tumor suppressor function of the Birt-Hogg-Dube syndrome gene product folliculin
J Med Genet Published Online First: 21 October 2009. doi:10.1136/jmg.2009.072009 [Abstract] [Accepted Manuscript] 

20 October 2009

Yvonne J Vos, Hermien E K de Walle, Krista K Bos, Jenneke A. Stegeman, Annelies M ten Berge, Martijn Bruining, Merel C van Maarle, Mariet W Elting, Nicolette S den Hollander, Ben Hamel, Ana Maria Fortuna, Lone E M Sunde, Irene Stolte-Dijkstra, Connie T R M Schrander-Stumpel, and Robert M W Hofstra

Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis
J Med Genet Published Online First: 20 October 2009. doi:10.1136/jmg.2009.071688 [Abstract] [Accepted Manuscript] 

Marcella Zollino, Daniela Orteschi, Giuseppe Marangi, Agostina De Crescenzo, Vanna Pecile, Andrea Riccio, and Giovanni Neri

A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus.
J Med Genet Published Online First: 20 October 2009. doi:10.1136/jmg.2009.071142 [Abstract] [Accepted Manuscript] 

Marjan Huizing, Ben Pederson, Richard A Hess, Ashley Griffin, Amanda Helip-Wooley, Wendy Westbroek, Heidi Dorward, Kevin J O'Brien, Gretchen Golas, Ekaterini Tsilou, James G White, and William A Gahl

Clinical and cellular characterization of Hermansky-Pudlak Syndrome Type-6
J Med Genet Published Online First: 20 October 2009. doi:10.1136/jmg.2008.065961 [Abstract] [Accepted Manuscript] 

19 October 2009

Ina Göhring, Andreas Tagariello, Sabine Endele, Claus C Stolt, Michella Ghassibé, Malcolm Fisher, Christian T Thiel, Udo Trautmann, Miikka Vikkula, Andreas Winterpacht, David R FitzPatrick, and Anita Rauch

Disruption of ST5 is associated with mental-retardation and multiple congenital anomalies
J Med Genet Published Online First: 19 October 2009. doi:10.1136/jmg.2009.069799 [Abstract] [Accepted Manuscript] 

14 October 2009

Laurence Brugieres, Gaelle Pierron, Agnes Chompret, Brigitte Bressac-De Paillerets, Federico Di Rocco, Pascale Varlet, Alain Pierre Kahn, Olivier Caron, Jacques Grill, and Olivier Delattre

Incomplete Penetrance of the Predisposition to Medulloblastoma Associated With Germ-Line Sufu Mutations
J Med Genet Published Online First: 14 October 2009. doi:10.1136/jmg.2009.067751 [Abstract] [Accepted Manuscript] 

Changgui Li, Lin Han, Albert M Levin, Huaidong Song, Shengli Yan, Yao Wang, Yunlong Wang, Dongmei Meng, Sensen lv, Yan Ji, Xiaochen Xu, Xianxain Liu, Yangang Wang, Li Zhou, Zhimin Miao, and Qing-Sheng Mi

Multiple single nucleotide polymorphisms in the human urate transporter 1 (hURAT1) gene are associated with hyperuricemia in Han Chinese
J Med Genet Published Online First: 14 October 2009. doi:10.1136/jmg.2009.068619 [Abstract] [Accepted Manuscript] 

Bernard Thienpont, Frédérique Béna, Jeroen Breckpot, Nicole Philip, Björn Menten, Hilde Van Esch, Emmanuel Scalais, Jessica Salamone, Chin-To Fong, Jennifer L Kussmann, Dorothy K Grange, Jerome Gorski, Farah Zahir, Siu Li Yong, Michael M Morris, Stefania Gimelli, Jean-Pierre Fryns, Geert Mortier, Jan M Friedman, Laurent Villard, Armand Bottani, Joris R Vermeesch, Sau Wai Cheung, and Koen Devriendt

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognizable syndrome
J Med Genet Published Online First: 14 October 2009. doi:10.1136/jmg.2009.070573 [Abstract] [Accepted Manuscript] 

1 October 2009

Fatemeh Abbaszadeh, Peter H Clingen, Colin F Arlett, Piers N Plowman, Emma C Bourton, Matthew Themis, Evgeny M Makarov, Robert F Newbold, Michael H Green, and Christopher N Parris

A novel splice variant of the DNA-PKcs gene is associated with clinical and cellular radiosensitvity in a xeroderma pigmentosum patient.
J Med Genet Published Online First: 1 October 2009. doi:10.1136/jmg.2009.068866 [Abstract] [Accepted Manuscript] 

24 September 2009

Bridget Ann Fernandez, Wendy Roberts, Brian Chung, Rosanna Weksberg, Stephen Meyn, Peter Szatmari, Ann M Joseph-George, Sara MacKay, Kathy Whitten, Barbara Noble, Cathy Vardy, Victoria Crosbie, Sandra Luscombe, Eva Tucker, Lesley Turner, Christian R Marshall, and Stephen W Scherer

Phenotypic Spectrum Associated with De Novo and Inherited Deletions and Duplications at 16p11.2 in Individuals Ascertained for Diagnosis of Autism Spectrum Disorder.
J Med Genet Published Online First: 24 September 2009. doi:10.1136/jmg.2009.069369 [Abstract] [Accepted Manuscript] 

Heather M Harville, Susanne Held, Anna Diaz-Font, Erica E Davis, Bill H Diplas, Richard A Lewis, Zvi U. Borochowitz, Weibin Zhou, Moumita Chaki, Jim MacDonald, Hulya Kayserili, Philip L Beales, Nicholas Katsanis, Edgar Otto, and Friedhelm Hildebrandt

Identification of 11 Novel Mutations in 8 BBS Genes by High-Resolution Homozygosity Mapping
J Med Genet Published Online First: 24 September 2009. doi:10.1136/jmg.2009.071365 [Abstract] [Accepted Manuscript] 

Gabor E Linthorst, Machtelt G Bouwman, Frits A Wijburg, Johannes MFG Aerts, Ben J H M Poorthuis, and Carla E M Hollak

Screening for Fabry disease in high risk populations: a systematic review
J Med Genet Published Online First: 24 September 2009. doi:10.1136/jmg.2009.072116 [Abstract] [Accepted Manuscript] 

16 September 2009

Sabrina Spengler, Nadine Schönherr, Gerhard Binder, Hartmut Wollmann, Susanne Fricke-Otto, Reinhard Mühlenberg, Bernd Denecke, Michael Baudis, and Thomas Eggermann

Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome
J Med Genet Published Online First: 16 September 2009. doi:10.1136/jmg.2009.070052 [Abstract] [Accepted Manuscript] 

Maximilian G Posch, Michael Gramlich, Margaret Sunde, Katharina Schmitt, Silke Richter, Andreas Perrot, Anna N Panek, Iman Al Khatib, Georges Nemer, André Megarbane, Rainer Dietz, Brigitte Stiller, Felix Berger, Richard P Harvey, and Cemil Özcelik

A Gain-of-function TBX20 Mutation Causes Congenital Atrial Septal Defects, Patent Foramen Ovale and Cardiac Valve Defects
J Med Genet Published Online First: 16 September 2009. doi:10.1136/jmg.2009.069997 [Abstract] [Accepted Manuscript] 

15 September 2009

B F Luo, L Du, J X Li, B Y Pan, J Xu, J Chen, X Y Yin, and F Zhang

Heritability of Metabolic Syndrome Traits among Healthy Younger Adults: A population-based study in China
J Med Genet Published Online First: 15 September 2009. doi:10.1136/jmg.2009.068932 [Abstract] [Accepted Manuscript] 

María-Luisa Martínez-Frías

Can our understanding of epigenetics assist with primary prevention of congenital defects?
J Med Genet Published Online First: 15 September 2009. doi:10.1136/jmg.2009.070466 [Abstract] [Accepted Manuscript] 

Elena Bochukova, Shamit Soneji, Steven Wall, and Andrew OM Wilkie

Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis
J Med Genet Published Online First: 15 September 2009. doi:10.1136/jmg.2009.069617 [Abstract] [Accepted Manuscript] 

14 September 2009

Mark Davies and Julian R Sampson

Small-molecule signal transduction inhibitors: targeted therapeutic agents for single gene disorders
J Med Genet Published Online First: 14 September 2009. doi:10.1136/jmg.2008.064113 [Abstract] [Accepted Manuscript] 

Sara Bruce, Katariina Hannula-Jouppi, Mari Puoskari, Ingegerd Fransson, Kalle OJ Simola, Marita Lipsanen-Nyman, and Juha Kere

Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients
J Med Genet Published Online First: 14 September 2009. doi:10.1136/jmg.2009.069427 [Abstract] [Accepted Manuscript] 

Gea Beunders, Jiddeke M. van de Kamp, Reinier M. Veenhoven, Johanna M. van Hagen, Aggie W.M. Nieuwint, and Erik A Sistermans

A triplication of the Williams Beuren Syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorfisms.
J Med Genet Published Online First: 14 September 2009. doi:10.1136/jmg.2009.070490 [Abstract] [Accepted Manuscript] 

Kim Hynes, Patrick Tarpey, Leanne M Dibbens, Marta A Bayly, Samuel F Berkovic, Raffaella Smith, Zahyia Al Raisi, Samantha J Turner, Natasha J Brown, Tarishi D Desai, Eric Haan, Gillian Turner, John Christodoulou, Helen Leonard, Deepak Gill, Michael R Stratton, Jozef Gecz, and Ingrid E Scheffer

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
J Med Genet Published Online First: 14 September 2009. doi:10.1136/jmg.2009.068817 [Abstract] [Accepted Manuscript] 

Stephen R Williams, Santhosh Girirajan, David Tegay, Norma J Nowak, Eli Hatchwell, and Sarah H Elsea

Array comparative genomic hybridization of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage-sensitive loci also associated with schizophrenia, autism, and developmental delay
J Med Genet Published Online First: 14 September 2009. doi:10.1136/jmg.2009.068072 [Abstract] [Accepted Manuscript] 

Dorthe Grosen, Cécile Chevrier, Axel Skytthe, Camilla Bille, Kirsten Molsted, Aase Sivertsen, Jeffrey C Murray, and Kaare Christensen

A cohort study of recurrence patterns among more than 54,000 relatives of oral cleft cases in Denmark: support for the multifactorial threshold model of inheritance
J Med Genet Published Online First: 14 September 2009. doi:10.1136/jmg.2009.069385 [Abstract] [Accepted Manuscript] 

7 September 2009

Adrianna Mostowska, Kamil K Hozyasz, Piotr Wojcicki, Maja Dziegelewska, and Pawel P Jagodzinski

Associations of folate and choline metabolism gene polymorphisms with orofacial clefts
J Med Genet Published Online First: 7 September 2009. doi:10.1136/jmg.2009.070029 [Abstract] [Accepted Manuscript] 

11 August 2009

Denise P Cavalcanti, Celine Huber, Kim-Hanh Le Quan Sang, Genevieve Baujat, Felicity Collins, Anne-Lise Delezoide, Nathalie Dagoneau, Martine Le Merrer, Jelena Martinovic, Marcos Fernando S Mello, Michel Vekemans, Arnold Munnich, and Valerie Cormier-Daire

Mutation in IFT80 gene in a foetus with a phenotype of Verma-Naumoff provides molecular evidence for the Jeune-Verma-Naumoff dysplasia spectrum
J Med Genet Published Online First: 11 August 2009. doi:10.1136/jmg.2009.069468 [Abstract] [Accepted Manuscript] 

27 July 2009

N Simon Thomas, Joan K Morris, Julia Baptista, Bee Ling Ng, John A Crolla, and Patricia A Jacobs

De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age
J Med Genet Published Online First: 27 July 2009. doi:10.1136/jmg.2009.069716 [Abstract] [Accepted Manuscript] 

26 July 2009

Cécile Mignon-Ravix, Pierre Cacciagli, Bilal El-Waly, Anne Moncla, Mathieu Milh, Nadine Girard, Brigitte Chabrol, Nicole Philip, and Laurent Villard

Deletion of YWHAE in a patient with periventricular heterotopias and marked corpus callosum hypoplasia.
J Med Genet Published Online First: 26 July 2009. doi:10.1136/jmg.2009.069112 [Abstract] [Accepted Manuscript] 

Eli Marie Grindedal, Laura Renkonen-Sinisalo Dr, Hans Vasen, Gareth Evans, Paola Sala, Ignacio Blanco, Jacek Gronwald, Jaran Apold, Diana M Eccles, Ángel A Sánchez, Julian Sampson, Heikki J Järvinen, Lucio Bertario, Gillian C Crawford, Astrid T Stormorken, Lovise Maehle, and Pål Møller

Survival in women with MMR mutations and ovarian cancer; A multicentre study in Lynch Syndrome kindreds
J Med Genet Published Online First: 26 July 2009. doi:10.1136/jmg.2009.068130 [Abstract] [Accepted Manuscript] 

23 July 2009

Ayse Latif, Kristen D Hadfield, Stephen A Roberts, Andrew Shenton, Fiona Lalloo, Graeme C M Black, Anthony Howell, D Gareth Evans, and William G Newman

Breast cancer susceptibility variants alter risks in familial disease
J Med Genet Published Online First: 23 July 2009. doi:10.1136/jmg.2009.067256 [Abstract] [Accepted Manuscript] 

21 July 2009

S C Sreenath Nagamani, F Zhang, O A Shchelochkov, W Bi, Z Ou, F Scaglia, F J Probst, M Shinawi, C Eng, J V Hunter, S Sparagana, E Lagoe, Chin -to- Fong, M Pearson, M Doco-Fenzy, E Landais, M Mozelle, A C Chinault, A Patel, C A Bacino, T Sahoo, S-H Kang, S W Cheung, J R Lupski, and P Stankiewicz

Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment
J Med Genet Published Online First: 21 July 2009. doi:10.1136/jmg.2009.067637 [Abstract] [Accepted Manuscript] 

16 July 2009

Sara S Cathey, Jules G Leroy, Tim Wood, Karisa Eaves, Richard J Simensen, Mariko Kudo, Roger E Stevenson, and Michael J Friez

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands
J Med Genet Published Online First: 16 July 2009. doi:10.1136/jmg.2009.067736 [Abstract] [Accepted Manuscript] 

9 July 2009

Nathalie Le Meur, Muriel Holder-Espinasse, Sylvie Jaillard, Alice Goldenberg, Sylvie Joriot, Patrizia Amati-Bonneau, Agnès Guichet, Magalie Barth, Aude Charollais, Hubert Journel, Stéphane Auvin, Cécile Boucher, Jean-Pierre Kerckaert, Véronique David, Sylvie Manouvrier-Hanu, Pascale Saugier-Veber, Thierry Frébourg, Christèle Dubourg, Joris Andrieux, and Dominique Bonneau

MEF2C haploinsufficiency caused either by microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations
J Med Genet Published Online First: 9 July 2009. doi:10.1136/jmg.2009.069732 [Abstract] [Accepted Manuscript] 

P Isohanni, T Linnankivi, J Buzkova, T Lönnqvist, H Pihko, L Valanne, P J Tienari, I Elovaara, T Pirttilä, M Reunanen, K Koivisto, S Marjavaara, and A Suomalainen

DARS2 mutations in mitochondrial leukoencephalopathy and multiple sclerosis
J Med Genet Published Online First: 9 July 2009. doi:10.1136/jmg.2009.068221 [Abstract] [Accepted Manuscript] 

8 July 2009

Sarah E Heron, Ingrid E Scheffer, Xenia Iona, Sameer M Zuberi, Rachael Birch, Jacinta M McMahon, Carla M Bruce, Samuel F Berkovic, and John C Mulley

De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.
J Med Genet Published Online First: 8 July 2009. doi:10.1136/jmg.2008.065912 [Abstract] [Accepted Manuscript] 

7 July 2009

Matthew L Scherer, Michael A Nalls, Ludmila Pawlikowska, Elad Ziv, Gary F Mitchell, Scott Huntsman, Donglei Hu, Kim Sutton-Tyrrell, Edward G Lakatta, Wen-Chi Hsueh, Anne B Newman, Arti Tandon, Lauren Kim, Pui-Yan Kwok, Andrew Sung, RongLing Li, Bruce Psaty, Alex P Reiner, and Tamara B Harris

Admixture mapping of ankle-arm index: identification of a candidate locus associated with peripheral arterial disease
J Med Genet Published Online First: 7 July 2009. doi:10.1136/jmg.2008.064808 [Abstract] [Accepted Manuscript] 

6 July 2009

B I Dimitrov, T de Ravel, J Van Driessche, C de Die-Smulders, A Toutain, J R Vermeesch, J-P Fryns, K Devriendt, and P Debeer

Distal limb deficiencies, micrognathia syndrome (OMIM 246560) and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements
J Med Genet Published Online First: 6 July 2009. doi:10.1136/jmg.2008.065888 [Abstract] [Accepted Manuscript] 

5 July 2009

P Yu-Wai-Man, J D Stewart, G Hudson, R M Andrews, P G Griffiths, M K Birch, and P F Chinnery

OPA1 increases the risk of normal but not high tension glaucoma
J Med Genet Published Online First: 5 July 2009. doi:10.1136/jmg.2009.067512 [Abstract] [Accepted Manuscript] 

Thomas W Hoffmann, Jean-Michel Halimi, Mathias Büchler, Florence Velge-Roussel, Alain Goudeau, Azmi Al-Najjar, Jean-Frédéric Marliere, Yvon Lebranchu, and Christophe Baron

Association between a polymorphism in the human programmed death-1 (PD-1) gene and CMV infection after kidney transplantation
J Med Genet Published Online First: 5 July 2009. doi:10.1136/jmg.2009.068841 [Abstract] [Accepted Manuscript] 

2 July 2009

Jianjun Chen, Gabriele Wildhardt, Zilin Zhong, Ralph Roeth, Birgit Weiss, Daniela Steinberger, Jochen Decker, Werner F Blum, and Gudrun A Rappold

Enhancer mutations of the SHOX gene as a frequent cause of short stature - the essential role of a 250 kb downstream regulatory domain
J Med Genet Published Online First: 2 July 2009. doi:10.1136/jmg.2009.067785 [Abstract] [Accepted Manuscript] 

Byung Yoon Choi, Anne C Madeo, Kelly A King, Christopher K Zalewski, Shannon P Pryor, Julie A Muskett, Walter E Nance, John A Butman, Carmen C Brewer, and Andrew J Griffith

Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes
J Med Genet Published Online First: 2 July 2009. doi:10.1136/jmg.2009.067892 [Abstract] [Accepted Manuscript] 

MA Mencarelli, A Spanhol-Rosseto, R Artuso, D Rondinella, R De Filippis, N Bahi-Buisson, J Nectoux, R Rubinsztajn, T Bienvenu, A Moncla, B Chabrol, L Villard, Z Krumina, J Armstrong, A Roche, M Pineda, E Gak, F Mari, F Ariani, and A Renieri

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome
J Med Genet Published Online First: 2 July 2009. doi:10.1136/jmg.2009.067884 [Abstract] [Accepted Manuscript] 

1 July 2009

Hugo Vega, Alison H Trainer, Miriam Gordillo, Moira Crosier, Hulya Kayserili, Flemming Skovby, Maria L. Giovannucci Uzielli, Rhonda E Schnur, Sylvie Manouvrier, Edward Blair, Jane A Hurst, Franscesca Forzano, Moritz Meins, Kalle O J Simola, Annick Raas-Rothschild, Raoul C M Hennekam, and Ethylin Wang Jabs

Phenotypic variability in 49 cases with ESCO2 mutations, including novel missense and codon deletion in the acetyltansferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome
J Med Genet Published Online First: 1 July 2009. doi:10.1136/jmg.2009.068395 [Abstract] [Accepted Manuscript] 

Dan Doherty, Melissa A Parisi, Laura S Finn, Meral Gunay-Aygun, Majeed Al-Mateen, Daniel Bates, Carol Clericuzio, Hulya Demir, Michael Dorschner, Anthonie J van Essen, William A Gahl, Mattia Gentile, Nicholas T. Gorden, Abigail Hikida, Dana Knutzen, Hamit Özyurek, Ian Phelps, Philip Rosenthal, Alain Verloes, Heike Weigand, Phillip F Chance, William B Dobyns, and Ian A Glass

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
J Med Genet Published Online First: 1 July 2009. doi:10.1136/jmg.2009.067249 [Abstract] [Accepted Manuscript] 

29 June 2009

Megan P Hitchins and Robyn L Ward

Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer
J Med Genet Published Online First: 29 June 2009. doi:10.1136/jmg.2009.068122 [Abstract] [Accepted Manuscript] 

C Philippe, D Amsallem, C Francannet, L Lambert, A Saunier, F Verneau, and P Jonveaux

Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females
J Med Genet Published Online First: 29 June 2009. doi:10.1136/jmg.2009.067355 [Abstract] [Accepted Manuscript] 

M E Faughnan, V A Palda, G Garcia-Tsao, U W Geisthoff, J McDonald, D D Proctor, J Spears, D H Brown, E Buscarini, M S Chesnutt, V Cottin, A Ganguly, J R Gossage, A E Guttmacher, R H Hyland, S J Kennedy, J Korzenik, J J Mager, A P Ozanne, J F Piccirillo, D Picus, H Plauchu, M EM Porteous, R E Pyeritz, D A Ross, C Sabba, K Swanson, P Terry, M C Wallace, C J J Westermann, R I White, L H Young, and R Zarrabeitia

International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia
J Med Genet Published Online First: 29 June 2009. doi:10.1136/jmg.2009.069013 [Abstract] [Accepted Manuscript] 

25 June 2009

Avencia Sánchez-Mejías, Raquel Maria Fernández, Manuel López-Alonso, Guillermo Antiñolo, and Salud Borrego

Contribution of RET, NTRK3 and EDN3 to the expression of Hirschsprung disease in a multiplex family
J Med Genet Published Online First: 25 June 2009. doi:10.1136/jmg.2009.067819 [Abstract] [Accepted Manuscript] 

21 June 2009

Ravinesh A Kumar, Jyotsna Sudi, Timothy D Babatz, Camille W Brune, Donald Oswald, Mayon Yen, Norma J Nowak, Edwin H Cook, Susan L Christian, and William B Dobyns

A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism
J Med Genet Published Online First: 21 June 2009. doi:10.1136/jmg.2008.065821 [Abstract] [Accepted Manuscript] 

18 June 2009

Mike Gerards, Wim Sluiter, Bianca J C van den Bosch, Elly de Wit, Chantal M H Calis, Margrit Frentzen, Hana Akbari, Kees Schoonderwoerd, H R Scholte, Roselie J Jongbloed, Alexandra T M Hendrickx, Irenaeus F M de Coo, and Hubert J M Smeets

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome
J Med Genet Published Online First: 18 June 2009. doi:10.1136/jmg.2009.067553 [Abstract] [Accepted Manuscript] 

D Gareth R Evans, Fiona Lalloo, Angela Cramer, Elizabeth Jones, Fiona Knox, Eitan Amir, and Anthony Howell

Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing
J Med Genet Published Online First: 18 June 2009. doi:10.1136/jmg.2009.067850 [Abstract] [Accepted Manuscript] 

Barbara Kollerits, Stefan Coassin, Stefan Kiechl, Steven C Hunt, Bernahrd Paulweber, Johann Willeit, Anita Brandstätter, Ted D Adams, and Florian Kronenberg

A common variant in the adiponutrin gene influences liver enzyme levels
J Med Genet Published Online First: 18 June 2009. doi:10.1136/jmg.2009.066597 [Abstract] [Accepted Manuscript] 

Mathieu Sevin, Zoltan Kutalik, Sven Bergmann, Martine Vercelletto, Pierre Renou, Estelle Lamy, Francois Vingerhoets, Gabriella Di-Virgilio, Pierre Boisseau, Stephane Bezieau, Laurent Pasquier, Jean-Marie Rival, Jacques Beckmann, Philippe Damier, and Sebastien Jacquemont

The penetrance of marked cognitive impairment in older male carriers of the FMR1 Gene Premutation
J Med Genet Published Online First: 18 June 2009. doi:10.1136/jmg.2008.065953 [Abstract] [Accepted Manuscript] 

23 September 2008

Sylvie Jaillard, Christele Dubourg, Marion Gérard-Blanluet, Andrée Delahaye, Laurent Pasquier, Céline Dupont, Catherine Henry, Anne-Claude Tabet, Josette Lucas, Azzedine Aboura, Véronique David, Brigitte Benzacken, Sylvie Odent, and Eva Pipiras

2q23.1 microdeletion identified by array-CGH: an emerging phenotype with Angelman-like features?
J Med Genet Published Online First: 23 September 2008. doi:10.1136/jmg.2008.058156 [Abstract] [Accepted Manuscript] 

17 July 2008

Diether Lambrechts, Koen Poesen, Rubén Fernández-Santiago, Ammar Al-Chalabi, Roberto Del Bo, Paul WJ Van Vught, Saeed Khan, Stefan Marklund, Alice Brockington, Ingrid Van Marion, Johanna Anneser, Christopher Shaw, Albert Ludolph, Nigel Leigh, giacomo comi, Thomas Gasser, Pamela J Shaw, Karen Morrison, Peter Andersen, Leonard H Van den Berg, Vincent Thijs, Teepu Siddique, Wim Robberecht, and Peter Carmeliet

Meta-analysis of VEGF variations in ALS: increased susceptibility in male carriers of the -2578AA genotype
J Med Genet Published Online First: 17 July 2008. doi:10.1136/jmg.2008.058222 [Abstract] [Accepted Manuscript] 

5 April 2007

Dian Donnai

Robert J Gorlin DDS, MS (1923-2006): A Geneticist for all Countries
J Med Genet Published Online First: 5 April 2007. doi:10.1136/jmg.2007.050716 [Abstract] [Accepted Manuscript] 

Charis Eng

In memorium: Robert J. Gorlin, DDS, MS (1923-2006): A Geneticist for All Seasons
J Med Genet Published Online First: 5 April 2007. doi:10.1136/jmg.2006.048397 [Abstract] [Accepted Manuscript] 

26 June 2006

Steve E. Humphries, Roslyn A. Whittall, Christina S. Hubbart, Sarah Maplebeck, Jacqueline A. Cooper, Anne Soutar, Rossi Naoumova, Gilbert R. Thompson, Mary Seed, Paul N. Durrington, J. Paul Miller, D. John B. Betteridge, and H. A. W. Neil

Genetic causes of Familial Hypercholesterolaemia in UK patients: relation to plasma lipid levels and coronary heart disease risk
J Med Genet Published Online First: 26 June 2006. doi:10.1136/jmg.2005.038356 [Abstract] [Accepted Manuscript]