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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
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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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
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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5
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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6
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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7
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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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
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome

Pottie, Lore ; Adamo, Christin S. ; Beyens, Aude ; Lütke, Steffen ; Tapaneeyaphan, Piyanoot ; De Clercq, Adelbert ; Salmon, Phil L. ; De Rycke, Riet ; Gezdirici, Alper ; Gulec, Elif Yilmaz ; Khan, Naz ; Urquhart, Jill E. ; Newman, William G. ; Metcalfe, Kay ; Efthymiou, Stephanie ; Maroofian, Reza ; Anwar, Najwa ; Maqbool, Shazia ; Rahman, Fatima ; Altweijri, Ikhlass ; Alsaleh, Monerah ; Abdullah, Sawsan Mohamed ; Al-Owain, Mohammad ; Hashem, Mais ; Houlden, Henry ; Alkuraya, Fowzan S. ; Sips, Patrick ; Sengle, Gerhard ; Callewaert, Bert

American journal of human genetics, 2021-06, Vol.108 (6), p.1095-1114 [Periódico revisado por pares]

United States: Elsevier Inc

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10
LRIG2 Mutations Cause Urofacial Syndrome
LRIG2 Mutations Cause Urofacial Syndrome
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LRIG2 Mutations Cause Urofacial Syndrome

Stuart, Helen M. ; Roberts, Neil A. ; Burgu, Berk ; Daly, Sarah B. ; Urquhart, Jill E. ; Bhaskar, Sanjeev ; Dickerson, Jonathan E. ; Mermerkaya, Murat ; Silay, Mesrur Selcuk ; Lewis, Malcolm A. ; Olondriz, M. Beatriz Orive ; Gener, Blanca ; Beetz, Christian ; Varga, Rita E. ; Gülpınar, Ömer ; Süer, Evren ; Soygür, Tarkan ; Özçakar, Zeynep B. ; Yalçınkaya, Fatoş ; Kavaz, Aslı ; Bulum, Burcu ; Gücük, Adnan ; Yue, Wyatt W. ; Erdogan, Firat ; Berry, Andrew ; Hanley, Neil A. ; McKenzie, Edward A. ; Hilton, Emma N. ; Woolf, Adrian S. ; Newman, William G.

American journal of human genetics, 2013-02, Vol.92 (2), p.259-264 [Periódico revisado por pares]

United States: Elsevier Inc

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