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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
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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4
Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell‐Defective Apoptosis and Hyperproliferation
Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell‐Defective Apoptosis and Hyperproliferation
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Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell‐Defective Apoptosis and Hyperproliferation

Belot, Alexandre ; Kasher, Paul R. ; Trotter, Eleanor W. ; Foray, Anne‐Perrine ; Debaud, Anne‐Laure ; Rice, Gillian I. ; Szynkiewicz, Marcin ; Zabot, Marie‐Therese ; Rouvet, Isabelle ; Bhaskar, Sanjeev S. ; Daly, Sarah B. ; Dickerson, Jonathan E. ; Mayer, Josephine ; O'Sullivan, James ; Juillard, Laurent ; Urquhart, Jill E. ; Fawdar, Shameem ; Marusiak, Anna A. ; Stephenson, Natalie ; Waszkowycz, Bohdan ; Beresford, Michael W. ; Biesecker, Leslie G. ; Black, Graeme C. M. ; René, Céline ; Eliaou, Jean‐François ; Fabien, Nicole ; Ranchin, Bruno ; Cochat, Pierre ; Gaffney, Patrick M. ; Rozenberg, Flore ; Lebon, Pierre ; Malcus, Christophe ; Crow, Yanick J. ; Brognard, John ; Bonnefoy, Nathalie

Arthritis & rheumatology (Hoboken, N.J.), 2013-08, Vol.65 (8), p.2161-2171 [Periódico revisado por pares]

United States: Wiley

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5
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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6
22q11.2 duplications in a UK cohort with bladder exstrophy–epispadias complex
22q11.2 duplications in a UK cohort with bladder exstrophy–epispadias complex
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22q11.2 duplications in a UK cohort with bladder exstrophy–epispadias complex

Beaman, Glenda M. ; Woolf, Adrian S. ; Cervellione, Raimondo M. ; Keene, David ; Mushtaq, Imran ; Urquhart, Jill E. ; Stuart, Helen M. ; Newman, William G.

American journal of medical genetics. Part A, 2019-03, Vol.179 (3), p.404-409 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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7
Exploring the genetic basis of 3MC syndrome: Findings in 12 further families
Exploring the genetic basis of 3MC syndrome: Findings in 12 further families
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Exploring the genetic basis of 3MC syndrome: Findings in 12 further families

Urquhart, Jill ; Roberts, Rebecca ; de Silva, Deepthi ; Shalev, Stavit ; Chervinsky, Elena ; Nampoothiri, Sheela ; Sznajer, Yves ; Revencu, Nicole ; Gunasekera, Romesh ; Suri, Mohnish ; Ellingford, Jamie ; Williams, Simon ; Bhaskar, Sanjeev ; Clayton-Smith, Jill

American journal of medical genetics. Part A, 2016-05, Vol.170A (5), p.1216-1224 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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8
A homozygous missense variant in CHRM3 associated with familial urinary bladder disease
A homozygous missense variant in CHRM3 associated with familial urinary bladder disease
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A homozygous missense variant in CHRM3 associated with familial urinary bladder disease

Beaman, Glenda M. ; Galatà, Gabriella ; Teik, Keng W. ; Urquhart, Jill E. ; Aishah, Ali ; O'Sullivan, James ; Bhaskar, Sanjeev S. ; Wood, Katherine A. ; Thomas, Huw B. ; O'Keefe, Raymond T. ; Woolf, Adrian S. ; Stuart, Helen M. ; Newman, William G.

Clinical genetics, 2019-12, Vol.96 (6), p.515-520 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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9
Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy
Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy
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Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy

Sharkia, Rajech ; Shalev, Stavit A. ; Zalan, Abdelnaser ; Marom‐David, Milit ; Watemberg, Nathan ; Urquhart, Jill E. ; Daly, Sarah B. ; Bhaskar, Sanjeev S. ; Williams, Simon G. ; Newman, William G. ; Spiegel, Ronen ; Azem, Abdussalam ; Elpeleg, Orly ; Mahajnah, Muhammad

American journal of medical genetics. Part A, 2017-04, Vol.173 (4), p.1051-1055 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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10
Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis
Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis
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Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis

Banka, Siddharth ; Cain, Stuart A ; Carim, Sabrya ; Daly, Sarah B ; Urquhart, Jill E ; Erdem, Günhan ; Harris, Jade ; Bottomley, Michelle ; Donnai, Dian ; Kerr, Bronwyn ; Kingston, Helen ; Superti-Furga, Andreas ; Unger, Sheila ; Ennis, Holly ; Worthington, Jane ; Herrick, Ariane L ; Merry, Catherine L R ; Yue, Wyatt W ; Kielty, Cay M ; Newman, William G

Annals of the rheumatic diseases, 2015-06, Vol.74 (6), p.1249-1256 [Periódico revisado por pares]

England

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