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.
Published in American journal of human genetics (04.04.2013)
Published in American journal of human genetics (04.04.2013)
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Journal Article
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
Published in American journal of human genetics (01.10.2015)
Published in American journal of human genetics (01.10.2015)
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Journal Article
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.
Published in American journal of human genetics (13.05.2011)
Published in American journal of human genetics (13.05.2011)
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Journal Article
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.
Published in American journal of human genetics (13.11.2009)
Published in American journal of human genetics (13.11.2009)
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Journal Article
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.
Published in American journal of human genetics (04.12.2014)
Published in American journal of human genetics (04.12.2014)
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Journal Article
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.
Published in American journal of human genetics (01.01.2008)
Published in American journal of human genetics (01.01.2008)
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Journal Article
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
Published in American journal of human genetics (06.11.2014)
Published in American journal of human genetics (06.11.2014)
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Journal Article
Non lethal Raine syndrome and differential diagnosis
Elalaoui, Siham Chafai, Al-Sheqaih, Nada, Ratbi, Ilham, Urquhart, Jill E, O'Sullivan, James, Bhaskar, Sanjeev, Williams, Simon S, Elalloussi, Mustapha, Lyahyai, Jaber, Sbihi, Leila, Cherkaoui Jaouad, Imane, Sbihi, Abdelhafid, Newman, William G, Sefiani, Abdelaziz
Published in European journal of medical genetics (01.11.2016)
Published in European journal of medical genetics (01.11.2016)
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Journal Article
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.
Published in American journal of human genetics (07.02.2013)
Published in American journal of human genetics (07.02.2013)
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Journal Article
Mutations in HPSE2 Cause Urofacial Syndrome
Daly, Sarah B., Urquhart, Jill E., Hilton, Emma, McKenzie, Edward A., Kammerer, Richard A., Lewis, Malcolm, Kerr, Bronwyn, Stuart, Helen, Donnai, Dian, Long, David A., Burgu, Berk, Aydogdu, Ozgu, Derbent, Murat, Garcia-Minaur, Sixto, Reardon, Willie, Gener, Blanca, Shalev, Stavit, Smith, Rupert, Woolf, Adrian S., Black, Graeme C., Newman, William G.
Published in American journal of human genetics (11.06.2010)
Published in American journal of human genetics (11.06.2010)
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Journal Article
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
Published in Journal of human genetics (01.04.2015)
Published in Journal of human genetics (01.04.2015)
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Journal Article
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
Published in American journal of medical genetics. Part A (01.04.2017)
Published in American journal of medical genetics. Part A (01.04.2017)
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Journal Article
Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome
Urquhart, Jill E, Williams, Simon G, Bhaskar, Sanjeev S, Bowers, Naomi, Clayton-Smith, Jill, Newman, William G
Published in Journal of human genetics (01.12.2015)
Published in Journal of human genetics (01.12.2015)
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Journal Article
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
Published in Journal of clinical oncology (20.12.2014)
Published in Journal of clinical oncology (20.12.2014)
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Journal Article
Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination
Hilton, Emma N., Manson, Forbes D.C., Urquhart, Jill E., Johnston, Jennifer J., Slavotinek, Anne M., Hedera, Peter, Stattin, Eva-Lena, Nordgren, Ann, Biesecker, Leslie G., Black, Graeme C.M.
Published in Human molecular genetics (15.07.2007)
Published in Human molecular genetics (15.07.2007)
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Journal Article
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.
Published in American journal of human genetics (04.11.2021)
Published in American journal of human genetics (04.11.2021)
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Journal Article
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
Published in Human mutation (01.04.2017)
Published in Human mutation (01.04.2017)
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Journal Article
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, O'Sullivan, 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
Published in Neurology (13.01.2015)
Published in Neurology (13.01.2015)
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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
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.08.2013)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.08.2013)
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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
Published in Human mutation (01.03.2016)
Published in Human mutation (01.03.2016)
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