Genetics

Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome
Fernando Jose Martinez, Jeong Ho Lee, Ji Eun Lee, Sandra Blanco, Elizabeth Nickerson, Stacey Gabriel, Michaela Frye, Lihadh Al-Gazali, Joseph G Gleeson

Journal of Medical Genetics Jun 2012, 49 (6) 380-385; DOI: 10.1136/jmedgenet-2011-100686
Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency
Hao Yang, Walla Al-Hertani, Denis Cyr, Rachel Laframboise, Guy Parizeault, Shu Pei Wang, Francis Rossignol, Marie-Thérèse Berthier, Yves Giguère, Paula J Waters, Grant A Mitchell

Journal of Medical Genetics Apr 2017, 54 (4) 241-247; DOI: 10.1136/jmedgenet-2016-104289
A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis
Yifat Zivony-Elboum, Wendy Westbroek, Nehama Kfir, David Savitzki, Yishay Shoval, Assnat Bloom, Raya Rod, Morad Khayat, Bella Gross, Walid Samri, Hector Cohen, Vadim Sonkin, Tatiana Freidman, Dan Geiger, Aviva Fattal-Valevski, Yair Anikster, Aoife M Waters, Robert Kleta, Tzipora C Falik-Zaccai

Journal of Medical Genetics Jul 2012, 49 (7) 462-472; DOI: 10.1136/jmedgenet-2012-100742
Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma
Nelly Sabbaghian, Nancy Hamel, Archana Srivastava, Steffen Albrecht, John R Priest, William D Foulkes

Journal of Medical Genetics Jul 2012, 49 (7) 417-419; DOI: 10.1136/jmedgenet-2012-100898
COLD-PCR and microarray: two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasma
Silvia Galbiati, Alessandra Monguzzi, Francesco Damin, Nadia Soriani, Marianna Passiu, Carlo Castellani, Federica Natacci, Cristina Curcio, Manuela Seia, Faustina Lalatta, Marcella Chiari, Maurizio Ferrari, Laura Cremonesi

Journal of Medical Genetics Jul 2016, 53 (7) 481-487; DOI: 10.1136/jmedgenet-2015-103229
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
Tobias B Haack, Birgit Haberberger, Eva-Maria Frisch, Thomas Wieland, Arcangela Iuso, Matteo Gorza, Valentina Strecker, Elisabeth Graf, Johannes A Mayr, Ulrike Herberg, Julia B Hennermann, Thomas Klopstock, Klaus A Kuhn, Uwe Ahting, Wolfgang Sperl, Ekkehard Wilichowski, Georg F Hoffmann, Marketa Tesarova, Hana Hansikova, Jiri Zeman, Barbara Plecko, Massimo Zeviani, Ilka Wittig, Tim M Strom, Markus Schuelke, Peter Freisinger, Thomas Meitinger, Holger Prokisch

Journal of Medical Genetics Apr 2012, 49 (4) 277-283; DOI: 10.1136/jmedgenet-2012-100846
De novo copy number variants associated with intellectual disability have a paternal origin and age bias
Jayne Y Hehir-Kwa, Benjamín Rodríguez-Santiago, Lisenka E Vissers, Nicole de Leeuw, Rolph Pfundt, Jan K Buitelaar, Luis A Pérez-Jurado, Joris A Veltman

Journal of Medical Genetics Nov 2011, 48 (11) 776-778; DOI: 10.1136/jmedgenet-2011-100147
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation
Ronen Spiegel, Ann Saada, Padraig J Flannery, Florence Burté, Devorah Soiferman, Morad Khayat, Verónica Eisner, Eugene Vladovski, Robert W Taylor, Laurence A Bindoff, Avraham Shaag, Hanna Mandel, Ora Schuler-Furman, Stavit A Shalev, Orly Elpeleg, Patrick Yu-Wai-Man

Journal of Medical Genetics Feb 2016, 53 (2) 127-131; DOI: 10.1136/jmedgenet-2015-103361
ADAP2 in heart development: a candidate gene for the occurrence of cardiovascular malformations in NF1 microdeletion syndrome
Marco Venturin, Silvia Carra, Germano Gaudenzi, Silvia Brunelli, Guido Roberto Gallo, Silvia Moncini, Franco Cotelli, Paola Riva

Journal of Medical Genetics Jul 2014, 51 (7) 436-443; DOI: 10.1136/jmedgenet-2013-102240
Skewed X-inactivation patterns in ageing healthy and myelodysplastic haematopoiesis determined by a pyrosequencing based transcriptional clonality assay
Maximilian Mossner, Florian Nolte, Gero Hütter, Jana Reins, Marion Klaumünzer, Verena Nowak, Julia Obländer, Katrin Ackermann, Silke Will, Henning Röhl, Uwe Neumann, Martin Neumann, Olaf Hopfer, Claudia D Baldus, Wolf-Karsten Hofmann, Daniel Nowak

Journal of Medical Genetics Feb 2013, 50 (2) 108-117; DOI: 10.1136/jmedgenet-2012-101093

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