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ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy
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ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy

Böhm, Johann ; Bulla, Monica ; Urquhart, Jill E. ; Malfatti, Edoardo ; Williams, Simon G. ; O'Sullivan, James ; Szlauer, Anastazja ; Koch, Catherine ; Baranello, Giovanni ; Mora, Marina ; Ripolone, Michela ; Violano, Raffaella ; Moggio, Maurizio ; Kingston, Helen ; Dawson, Timothy ; DeGoede, Christian G. ; Nixon, John ; Boland, Anne ; Deleuze, Jean‐François ; Romero, Norma ; Newman, William G. ; Demaurex, Nicolas ; Laporte, Jocelyn

Human mutation, 2017-04, Vol.38 (4), p.426-438 [Periódico revisado por pares]

United States: Hindawi Limited

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2
Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations
Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations
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Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations

Smith, Miriam J ; Beetz, Christian ; Williams, Simon G ; Bhaskar, Sanjeev S ; O'Sullivan, James ; Anderson, Beverley ; Daly, Sarah B ; Urquhart, Jill E ; Bholah, Zaynab ; Oudit, Deemesh ; Cheesman, Edmund ; Kelsey, Anna ; McCabe, Martin G ; Newman, William G ; Evans, D Gareth R

Journal of clinical oncology, 2014-12, Vol.32 (36), p.4155-4161 [Periódico revisado por pares]

United States

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3
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
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Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

Ratbi, Ilham ; Falkenberg, Kim D. ; Sommen, Manou ; Al-Sheqaih, Nada ; Guaoua, Soukaina ; Vandeweyer, Geert ; Urquhart, Jill E. ; Chandler, Kate E. ; Williams, Simon G. ; Roberts, Neil A. ; El Alloussi, Mustapha ; Black, Graeme C. ; Ferdinandusse, Sacha ; Ramdi, Hind ; Heimler, Audrey ; Fryer, Alan ; Lynch, Sally-Ann ; Cooper, Nicola ; Ong, Kai Ren ; Smith, Claire E.L. ; Inglehearn, Christopher F. ; Mighell, Alan J. ; Elcock, Claire ; Poulter, James A. ; Tischkowitz, Marc ; Davies, Sally J. ; Sefiani, Abdelaziz ; Mironov, Aleksandr A. ; Newman, William G. ; Waterham, Hans R. ; Van Camp, Guy

American journal of human genetics, 2015-10, Vol.97 (4), p.535-545 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome
Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome
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Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome

Wieczorek, Dagmar ; Newman, William G. ; Wieland, Thomas ; Berulava, Tea ; Kaffe, Maria ; Falkenstein, Daniela ; Beetz, Christian ; Graf, Elisabeth ; Schwarzmayr, Thomas ; Douzgou, Sofia ; Clayton-Smith, Jill ; Daly, Sarah B. ; Williams, Simon G. ; Bhaskar, Sanjeev S. ; Urquhart, Jill E. ; Anderson, Beverley ; O’Sullivan, James ; Boute, Odile ; Gundlach, Jasmin ; Czeschik, Johanna Christina ; van Essen, Anthonie J. ; Hazan, Filiz ; Park, Sarah ; Hing, Anne ; Kuechler, Alma ; Lohmann, Dietmar R. ; Ludwig, Kerstin U. ; Mangold, Elisabeth ; Steenpaß, Laura ; Zeschnigk, Michael ; Lemke, Johannes R. ; Lourenco, Charles Marques ; Hehr, Ute ; Prott, Eva-Christina ; Waldenberger, Melanie ; Böhmer, Anne C. ; Horsthemke, Bernhard ; O’Keefe, Raymond T. ; Meitinger, Thomas ; Burn, John ; Lüdecke, Hermann-Josef ; Strom, Tim M.

American journal of human genetics, 2014-12, Vol.95 (6), p.698-707 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis
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Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

Smith, Miriam J ; Isidor, Bertand ; Beetz, Christian ; Williams, Simon G ; Bhaskar, Sanjeev S ; Richer, Wilfrid ; OʼSullivan, James ; Anderson, Beverly ; Daly, Sarah B ; Urquhart, Jill E ; Fryer, Alan ; Rustad, Cecilie F ; Mills, Samantha J ; Samii, Amir ; du Plessis, Daniel ; Halliday, Dorothy ; Barbarot, Sebastien ; Bourdeaut, Franck ; Newman, William G ; Evans, D Gareth

Neurology, 2015-01, Vol.84 (2), p.141-147 [Periódico revisado por pares]

United States: American Academy of Neurology

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6
The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes
The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes
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The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes

Smith, Miriam J. ; Urquhart, Jill E. ; Harkness, Elaine F. ; Miles, Emma K. ; Bowers, Naomi L. ; Byers, Helen J. ; Bulman, Michael ; Gokhale, Carolyn ; Wallace, Andrew J. ; Newman, William G. ; Evans, D. Gareth

Human mutation, 2016-03, Vol.37 (3), p.250-256 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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7
Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome
Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome
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Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome

Hussain, Muhammad Sajid ; Battaglia, Agatino ; Szczepanski, Sandra ; Kaygusuz, Emrah ; Toliat, Mohammad Reza ; Sakakibara, Shin-ichi ; Altmüller, Janine ; Thiele, Holger ; Nürnberg, Gudrun ; Moosa, Shahida ; Yigit, Gökhan ; Beleggia, Filippo ; Tinschert, Sigrid ; Clayton-Smith, Jill ; Vasudevan, Pradeep ; Urquhart, Jill E. ; Donnai, Dian ; Fryer, Alan ; Percin, Ferda ; Brancati, Francesco ; Dobbie, Angus ; Śmigiel, Robert ; Gillessen-Kaesbach, Gabriele ; Wollnik, Bernd ; Noegel, Angelika Anna ; Newman, William G. ; Nürnberg, Peter

American journal of human genetics, 2014-11, Vol.95 (5), p.622-632 [Periódico revisado por pares]

United States: Elsevier Inc

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8
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma
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MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma

Conte, Ivan ; Kristen D. Hadfield ; Sara Barbato ; Sabrina Carrella ; Mariateresa Pizzo ; Rajeshwari S. Bhat ; Annamaria Carissimo ; Marianthi Karali ; Louise F. Porter ; Jill Urquhart ; Sofie Hateley ; James O’Sullivan ; Forbes D. C. Manson ; Stephan C. F. Neuhauss ; Sandro Banfi ; Graeme C. M. Black

Proceedings of the National Academy of Sciences - PNAS, 2015-06, Vol.112 (25), p.E3236-E3245 [Periódico revisado por pares]

United States: National Academy of Sciences

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9
Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract
Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract
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Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract

Gillespie, Rachel L., PhD ; Urquhart, Jill, PhD ; Anderson, Beverley, MSc ; Williams, Simon, PhD ; Waller, Sarah, PhD ; Ashworth, Jane, FRCOphth ; Biswas, Susmito, FRCOphth ; Jones, Simon, MRCPCH ; Stewart, Fiona, FRCPCH ; Lloyd, I. Christopher, FRCOphth ; Clayton-Smith, Jill, MD, FRCP ; Black, Graeme C.M., DPhil, FRCOphth

Ophthalmology (Rochester, Minn.), 2016, Vol.123 (1), p.217-220 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2
Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2
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Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2

Sergouniotis, Panagiotis I ; Urquhart, Jill E ; Williams, Simon G ; Bhaskar, Sanjeev S ; Black, Graeme C ; Lovell, Simon C ; Whitby, David J ; Newman, William G ; Clayton-Smith, Jill

Journal of human genetics, 2015-04, Vol.60 (4), p.199-202 [Periódico revisado por pares]

England: Nature Publishing Group

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