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1
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: Hindawi Limited

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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
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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8
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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9
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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10
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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