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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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2
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: Wiley Periodicals Inc

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3
Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease
Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease
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Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

Jenkinson, Emma M. ; Rehman, Atteeq U. ; Walsh, Tom ; Clayton-Smith, Jill ; Lee, Kwanghyuk ; Morell, Robert J. ; Drummond, Meghan C. ; Khan, Shaheen N. ; Naeem, Muhammad Asif ; Rauf, Bushra ; Billington, Neil ; Schultz, Julie M. ; Urquhart, Jill E. ; Lee, Ming K. ; Berry, Andrew ; Hanley, Neil A. ; Mehta, Sarju ; Cilliers, Deirdre ; Clayton, Peter E. ; Kingston, Helen ; Smith, Miriam J. ; Warner, Thomas T. ; Black, Graeme C. ; Trump, Dorothy ; Davis, Julian R.E. ; Ahmad, Wasim ; Leal, Suzanne M. ; Riazuddin, Sheikh ; King, Mary-Claire ; Friedman, Thomas B. ; Newman, William G.

American journal of human genetics, 2013-04, Vol.92 (4), p.605-613 [Periódico revisado por pares]

United States: Elsevier Inc

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4
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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5
Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome
Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome
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Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome

O'Sullivan, James ; Bitu, Carolina C. ; Daly, Sarah B. ; Urquhart, Jill E. ; Barron, Martin J. ; Bhaskar, Sanjeev S. ; Martelli-Júnior, Hercilio ; dos Santos Neto, Pedro Eleuterio ; Mansilla, Maria A. ; Murray, Jeffrey C. ; Coletta, Ricardo D. ; Black, Graeme C.M. ; Dixon, Michael J.

American journal of human genetics, 2011-05, Vol.88 (5), p.616-620 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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6
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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7
Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans
Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans
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Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

Burgess, Rosemary ; Millar, Ian D. ; Leroy, Bart P. ; Urquhart, Jill E. ; Fearon, Ian M. ; De Baere, Elfrida ; Brown, Peter D. ; Robson, Anthony G. ; Wright, Genevieve A. ; Kestelyn, Philippe ; Holder, Graham E. ; Webster, Andrew R. ; Manson, Forbes D.C. ; Black, Graeme C.M.

American journal of human genetics, 2008-01, Vol.82 (1), p.19-31 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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8
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
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Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

Hochberg, Irit ; Demain, Leigh A.M. ; Richer, Julie ; Thompson, Kyle ; Urquhart, Jill E. ; Rea, Alessandro ; Pagarkar, Waheeda ; Rodríguez-Palmero, Agustí ; Schlüter, Agatha ; Verdura, Edgard ; Pujol, Aurora ; Quijada-Fraile, Pilar ; Amberger, Albert ; Deutschmann, Andrea J. ; Demetz, Sandra ; Gillespie, Meredith ; Belyantseva, Inna A. ; McMillan, Hugh J. ; Barzik, Melanie ; Beaman, Glenda M. ; Motha, Reeya ; Ng, Kah Ying ; O’Sullivan, James ; Williams, Simon G. ; Bhaskar, Sanjeev S. ; Lawrence, Isabella R. ; Jenkinson, Emma M. ; Zambonin, Jessica L. ; Blumenfeld, Zeev ; Yalonetsky, Sergey ; Oerum, Stephanie ; Rossmanith, Walter ; Yue, Wyatt W. ; Zschocke, Johannes ; Munro, Kevin J. ; Battersby, Brendan J. ; Friedman, Thomas B. ; Taylor, Robert W. ; O’Keefe, Raymond T. ; Newman, William G.

American journal of human genetics, 2021-11, Vol.108 (11), p.2195-2204 [Periódico revisado por pares]

Elsevier Inc

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9
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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10
Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa
Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa
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Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa

Davidson, Alice E. ; Millar, Ian D. ; Urquhart, Jill E. ; Burgess-Mullan, Rosemary ; Shweikh, Yusrah ; Parry, Neil ; O'Sullivan, James ; Maher, Geoffrey J. ; McKibbin, Martin ; Downes, Susan M. ; Lotery, Andrew J. ; Jacobson, Samuel G. ; Brown, Peter D. ; Black, Graeme C.M. ; Manson, Forbes D.C.

American journal of human genetics, 2009-11, Vol.85 (5), p.581-592 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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