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European journal of human genetics : EJHG, ISSN 1018-4813, 01/2015, Volume 23, Issue 3, pp. 292 - 301
Journal Article
Nature genetics, ISSN 1061-4036, 01/2014, Volume 46, Issue 5, pp. 510 - 515
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2013, Volume 92, Issue 5, pp. 807 - 819
Journal Article
Journal Article
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 4, pp. 440 - 4, S1-2
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2014, Volume 9, Issue 8, p. e104163
We describe novel CHRDL1 mutations in ten families with X-linked megalocornea (MGC1). Our mutation-positive cohort enabled us to establish ultrasonography as a... 
CHROMOSOME | POPULATION | MENTAL-RETARDATION SYNDROME | MULTIDISCIPLINARY SCIENCES | BUPHTHALMOS | LTBP2 | DIFFERENTIATION | HYPOGONADISM | PRIMARY CONGENITAL GLAUCOMA | GENOME-WIDE ASSOCIATION | CUL4B GENE | Corneal Diseases - diagnostic imaging | Megalencephaly - diagnostic imaging | Humans | Middle Aged | Child, Preschool | Intellectual Disability - complications | Male | Intellectual Disability - genetics | Young Adult | Corneal Diseases - genetics | Genes, X-Linked | Ultrasonography | Adult | Epilepsy - genetics | Female | Genetic Diseases, X-Linked - diagnostic imaging | Genetic Diseases, X-Linked - genetics | Eye Proteins - genetics | Cerebral Palsy - diagnostic imaging | Megalencephaly - genetics | Muscle Hypotonia - complications | Genetic Predisposition to Disease | Eye Diseases, Hereditary - diagnostic imaging | Muscle Hypotonia - genetics | Genetic Association Studies | Intellectual Disability - diagnostic imaging | Mutation - genetics | Glaucoma - congenital | Nerve Tissue Proteins - genetics | Epilepsy - complications | Eye Diseases, Hereditary - genetics | Exome - genetics | Phenotype | Pedigree | Adolescent | Family | Glaucoma - genetics | Cerebral Palsy - genetics | Corneal Pachymetry | Glaucoma | Phenotypes | Cornea | Intellectual disabilities | Health risks | X chromosomes | Genomes | Single-nucleotide polymorphism | Epidemiology | Loci | Eye | Proteins | Missense mutation | Etiology | Diagnostic software | Genetics | Diagnostic systems | Mutation | Bioinformatics | Chromosomes | Ultrasound | Polymorphism | X Chromosomes
Journal Article
by Ansari, Morad and Poke, Gemma and Ferry, Quentin and Williamson, Kathleen and Aldridge, Roland and Meynert, Alison M and Bengani, Hemant and Chan, Cheng Yee and Kayserili, Hülya and Avci, Şahin and Hennekam, Raoul C M and Lampe, Anne K and Redeker, Egbert and Homfray, Tessa and Ross, Alison and Falkenberg Smeland, Marie and Mansour, Sahar and Parker, Michael J and Cook, Jacqueline A and Splitt, Miranda and Fisher, Richard B and Fryer, Alan and Magee, Alex C and Wilkie, Andrew and Barnicoat, Angela and Brady, Angela F and Cooper, Nicola S and Mercer, Catherine and Deshpande, Charu and Bennett, Christopher P and Pilz, Daniela T and Ruddy, Deborah and Cilliers, Deirdre and Johnson, Diana S and Josifova, Dragana and Rosser, Elisabeth and Thompson, Elizabeth M and Wakeling, Emma and Kinning, Esther and Stewart, Fiona and Flinter, Frances and Girisha, Katta M and Cox, Helen and Firth, Helen V and Kingston, Helen and Wee, Jamie S and Hurst, Jane A and Clayton-Smith, Jill and Tolmie, John and Vogt, Julie and Tatton–Brown, Katrina and Chandler, Kate and Prescott, Katrina and Wilson, Louise and Behnam, Mahdiyeh and McEntagart, Meriel and Davidson, Rosemarie and Lynch, Sally-Ann and Sisodiya, Sanjay and Mehta, Sarju G and McKee, Shane A and Mohammed, Shehla and Holden, Simon and Park, Soo-Mi and Holder, Susan E and Harrison, Victoria and McConnell, Vivienne and Lam, Wayne K and Green, Andrew J and Donnai, Dian and Bitner-Glindzicz, Maria and Donnelly, Deirdre E and Nellåker, Christoffer and Taylor, Martin S and FitzPatrick, David R
Journal of Medical Genetics, ISSN 0022-2593, 10/2014, Volume 51, Issue 10, pp. 659 - 668
Journal Article