Neurogastroenterology

WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome
Cori DeSanto, Kristin D'Aco, Gabriel C Araujo, Nora Shannon, DDD Study, Hilary Vernon, April Rahrig, Kristin G Monaghan, Zhiyv Niu, Patrik Vitazka, Jonathan Dodd, Sha Tang, Linda Manwaring, Arelis Martir-Negron, Rhonda E Schnur, Jane Juusola, Audrey Schroeder, Vivian Pan, Katherine L Helbig, Bethany Friedman, Marwan Shinawi

Journal of Medical Genetics Nov 2015, 52 (11) 754-761; DOI: 10.1136/jmedgenet-2015-103069
Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein
Matthew F Pescosolido, Matthew Schwede, Ashley Johnson Harrison, Michael Schmidt, Ece D Gamsiz, Wendy S Chen, John P Donahue, Natasha Shur, Beth A Jerskey, Chanika Phornphutkul, Eric M Morrow

Journal of Medical Genetics Sep 2014, 51 (9) 587-589; DOI: 10.1136/jmedgenet-2014-102444
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA)
Anna Tylki-Szymańska, Rocio Acuna-Hidalgo, Małgorzata Krajewska-Walasek, Agnieszka Lecka-Ambroziak, Marloes Steehouwer, Christian Gilissen, Han G Brunner, Agnieszka Jurecka, Agnieszka Różdżyńska-Świątkowska, Alexander Hoischen, Krystyna H Chrzanowska

Journal of Medical Genetics May 2015, 52 (5) 312-316; DOI: 10.1136/jmedgenet-2014-102936
Cystic fibrosis carrier frequencies in populations of African origin
Carolyn Padoa, Andrea Goldman, Trefor Jenkins, Michele Ramsay

Journal of Medical Genetics Jan 1999, 36 (1) 41-44; DOI: 10.1136/jmg.36.1.41
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy
R Mineri, M Rimoldi, A B Burlina, S Koskull, C Perletti, B Heese, U von Döbeln, P Mereghetti, I Di Meo, F Invernizzi, M Zeviani, G Uziel, V Tiranti

Journal of Medical Genetics Jul 2008, 45 (7) 473-478; DOI: 10.1136/jmg.2008.058271
A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome
U Hehr, A Hehr, G Uyanik, E Phelan, J Winkler, W Reardon

Journal of Medical Genetics Jun 2006, 43 (6) 541-544; DOI: 10.1136/jmg.2005.038505
Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)
E Schollen, C G Frank, L Keldermans, R Reyntjens, C E Grubenmann, P T Clayton, B G Winchester, J Smeitink, R A Wevers, M Aebi, T Hennet, G Matthijs

Journal of Medical Genetics Jul 2004, 41 (7) 550-556; DOI: 10.1136/jmg.2003.016923
Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome
C Zweier, I K Temple, F Beemer, E Zackai, T Lerman-Sagie, B Weschke, C E Anderson, A Rauch

Journal of Medical Genetics Aug 2003, 40 (8) 601-605; DOI: 10.1136/jmg.40.8.601
Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib
S Vuillaumier-Barrot, C Le Bizec, P de Lonlay, A Barnier, G Mitchell, V Pelletier, C Prevost, J M Saudubray, G Durand, N Seta

Journal of Medical Genetics Nov 2002, 39 (11) 849-851; DOI: 10.1136/jmg.39.11.849
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome
M J Lyons, J M Graham, G Neri, A G W Hunter, R D Clark, R C Rogers, M Moscarda, L Boccuto, R Simensen, J Dodd, S Robertson, B R DuPont, M J Friez, C E Schwartz, R E Stevenson

Journal of Medical Genetics Jan 2009, 46 (1) 9-13; DOI: 10.1136/jmg.2008.060509

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