Jill Urquhart - Dissemin

All papers authored by Jill Urquhart

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2016 Jill E. Urquhart

, Glenda Beaman, Helen Byers, Neil A. Roberts, Elena Chervinsky, J. O'Sullivan, James O’ Sullivan, Daniela Pilz, Andrew Fry

, Simon G. Williams

, Sanjeev S. Bhaskar, Morad Khayat, Natalia Simanovsky, Inbar Ben Shachar, I. B. Shachar and 2 other authors

DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation

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This paper is made freely available by the publisher.

2015 R. L. Gillespie, J. Urquhart

, S. C. Lovell, S. Biswas, N. R. A. Parry, D. F. Schorderet, I. C. Lloyd, J. Clayton-Smith, G. C. Black

Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy

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Panagiotis I. Sergouniotis, Jill E. Urquhart

, Simon G. Williams

, Sanjeev S. Bhaskar, Graeme C. Black, Simon C. Lovell, David J. Whitby, William G. Newman, Jill Clayton-Smith

Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2

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This paper is available in a repository.

2014 Miriam J. Smith, Smith Mj, Bertand Isidor, Christian Beetz, Simon G. Williams

, Williams Sg, Sanjeev S. Bhaskar, Wilfrid Richer, James O'Sullivan, Beverly Anderson, Daniel du Plessis, Daly Sb, Urquhart Je, Sarah B. Daly, Jill E. Urquhart

and 15 other authors

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.

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Dagmar Wieczorek, William G. Newman, Thomas Wieland, Tea Berulava, Maria Kaffe, Daniela Falkenstein, Christian Beetz, Elisabeth Graf, Thomas Schwarzmayr, Sofia Douzgou, Jill Clayton-Smith, Sarah B. Daly, Simon G. Williams

, Sanjeev S. Bhaskar, Jill E. Urquhart

and 27 other authors

Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome

Download from www.ncbi.nlm.nih.gov

Miriam J. Smith, Christian Beetz, Simon G. Williams, Sanjeev S. Bhaskar, James O'Sullivan, Beverley Anderson, Sarah B. Daly, Jill E. Urquhart

, Zaynab Bholah, Deemesh Oudit, Edmund Cheesman, Anna Kelsey, Martin G. McCabe, William G. Newman, D. Gareth R. Evans and 1 other authors

Germline Mutations in SUFU Cause Gorlin Syndrome-Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations.

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Muhammad Sajid Hussain

, Agatino Battaglia, Sandra Szczepanski, Emrah Kaygusuz, Mohammad Reza Toliat, Shin-Ichi Sakakibara, Janine Altmüller

, Holger Thiele, Gudrun Nürnberg, Shahida Moosa, Gökhan Yigit, Filippo Beleggia, Sigrid Tinschert, Jill Clayton-Smith, Pradeep Vasudevan and 13 other authors

Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome

Download from www.ncbi.nlm.nih.gov

2013 Charlotte W. Ockeloen, Jennifer Simpson, Jill Urquhart

, Julie Davies, Melanie Bowden, Kathryn Patrick, Jonathan Dore, Jill Clayton-Smith

Velopharyngeal insufficiency: high detection rate of genetic abnormalities if associated with additional features

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Emma M. Jenkinson, Atteeq U. Rehman, Tom Walsh, Jill Clayton-Smith, Kwanghyuk Lee, Robert J. Morell, Meghan C. Drummond, Shaheen N. Khan, Muhammad Asif Naeem, Bushra Rauf, Neil Billington, Julie M. Schultz, Jill E. Urquhart

, Ming K. Lee, Andrew Berry and 18 other authors

Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

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Helen M. Stuart, Neil A. Roberts, Berk Burgu, Sarah B. Daly, Jill E. Urquhart

, Sanjeev Bhaskar, Jonathan E. Dickerson, Murat Mermerkaya, Mesrur Selcuk Silay, Malcolm A. Lewis, M. Beatriz Orive Olondriz, Blanca Gener, Christian Beetz, Rita E. Varga, Ömer Gülpınar and 15 other authors

LRIG2 Mutations Cause Urofacial Syndrome

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2012 Anderson Bh, Kasher Pr, Beverley H. Anderson, Paul R. Kasher

, Josephine Mayer, Marcin Szynkiewicz, Emma M. Jenkinson, Jenkinson Em, Sanjeev S. Bhaskar, Jill E. Urquhart

, Bhaskar Ss, Sarah B. Daly, Urquhart Je, Jonathan E. Dickerson, Daly Sb and 84 other authors

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.

Download from dipot.ulb.ac.be

2011 Muthukumar Sakthivel, Stephen M. Hughes, Phil Riley, Peter D. Arkwright, Anindya Mukherjee, Simon Ramsden, Jill Urquhart

, Yanick J. Crow

Severe neonatal-onset panniculitis in a female infant with Prader-Willi syndrome.

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Emma M. Jenkinson, Helen Kingston, Jill Urquhart

, Naz Khan, Athalie Melville, Martin Swinton, Yanick J. Crow, Julian R. E. Davis, Dorothy Trump, William G. Newman, Kingston H Urquhart J Khan N Melville A Swinton M Crow YJ Davis JR Trump D Newman W.-G. Jenkinson Em

Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3.

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Dan Hanson, Philip G. Murray, James O'Sullivan, Jill Urquhart

, Sarah Daly, Sanjeev S. Bhaskar, Leslie G. Biesecker, Mars Skae, Claire Smith, Trevor Cole, Jeremy Kirk, Kate Chandler, Helen Kingston, Dian Donnai, Peter E. Clayton and 1 other authors

Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth

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Geoffrey J. Maher, G. J. Hilton E N. Urquhart J E. Davidson A E. Spencer H L. Black G C. Manson F D. • Maher, Emma N. Hilton, Jill E. Urquhart

, Hilton EN Urquhart JE Davidson AE Spencer HL Black GC Manson Fd-D. Maher Gj, Alice E. Davidson, Helen L. Spencer, Graeme C. Black, Forbes D. Manson

The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members.

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Alice E. Davidson, Ian D. Millar, Rosemary Burgess-Mullan, Geoffrey J. Maher, Jill E. Urquhart

, Peter D. Brown, Graeme C. M. Black, Forbes D. C. Manson

Functional Characterization of Bestrophin-1 Missense Mutations Associated with Autosomal Recessive Bestrophinopathy

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James O'Sullivan, Carolina C. Bitu, Sarah B. Daly, Jill E. Urquhart

, Martin J. Barron, Sanjeev S. Bhaskar, Hercilio Martelli-Júnior, Pedro Eleuterio dos Santos Neto, Pedro Eleuterio dos Santos Neto, Maria A. Mansilla, Jeffrey C. Murray, Ricardo D. Coletta, Graeme C. M. Black, Graeme Cm M. Black, Michael J. Dixon

Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome

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Siddharth Banka

, Henk J. Blom, John Walter, Majid Aziz, Jill Urquhart

, Christopher M. Clouthier, Gillian I. Rice, Arjan P. M. de Brouwer, A. P. M. de Brouwer, Emma Hilton, Grace Vassallo, Andrew Will, Desirée E. C. Smith, Yvo M. Smulders, Ron A. Wevers and 6 other authors

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.

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Tracy A. Briggs, Gillian I. Rice, Sarah Daly, Jill Urquhart

, Hannah Gornall, Brigitte Bader-Meunier, Kannan Baskar, Shankar Baskar, Veronique Baudouin, Michael W. Beresford, Graeme C. M. Black, Rebecca J. Dearman, Francis de Zegher, Emily S. Foster, Camille Francès and 27 other authors

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

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Louise F. Porter

, Jill E. Urquhart

, Eamonn O'Donoghue, A. Fiona Spencer, Emma M. Wade, Forbes D. C. Manson, Graeme C. M. Black, Urquhart JE O’Donoghue E Spencer AF Wade EM Manson FDC Black Gcm Porter Lf

Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2

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All papers authored by Jill Urquhart