Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism
Matthews, Harold S., Palmer, Richard L., Baynam, Gareth S., Quarrell, Oliver W., Klein, Ophir D., Spritz, Richard A., Hennekam, Raoul C., Walsh, Susan, Shriver, Mark, Weinberg, Seth M., Hallgrimsson, Benedikt, Hammond, Peter, Penington, Anthony J., Peeters, Hilde, Claes, Peter D.
Published in Scientific reports (09.06.2021)
Published in Scientific reports (09.06.2021)
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Journal Article
A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia
Rautengarten, Carsten, Quarrell, Oliver W, Stals, Karen, Caswell, Richard C, De Franco, Elisa, Baple, Emma, Burgess, Nadia, Jokhi, Roobin, Heazlewood, Joshua L, Offiah, Amaka C, Ebert, Berit, Ellard, Sian
Published in Human molecular genetics (01.11.2019)
Published in Human molecular genetics (01.11.2019)
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Journal Article
Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling
Li, Yun, Laue, Kathrin, Temtamy, Samia, Aglan, Mona, Kotan, L. Damla, Yigit, Gökhan, Canan, Husniye, Pawlik, Barbara, Nürnberg, Gudrun, Wakeling, Emma L., Quarrell, Oliver W., Baessmann, Ingelore, Lanktree, Matthew B., Yilmaz, Mustafa, Hegele, Robert A., Amr, Khalda, May, Klaus W., Nürnberg, Peter, Topaloglu, A. Kemal, Hammerschmidt, Matthias, Wollnik, Bernd
Published in American journal of human genetics (10.12.2010)
Published in American journal of human genetics (10.12.2010)
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Journal Article
The global prevalence of Huntington's disease: a systematic review and discussion
Baig, Sheharyar Sajjad, Strong, Mark, Quarrell, Oliver WJ
Published in Neurodegenerative disease management (01.08.2016)
Published in Neurodegenerative disease management (01.08.2016)
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Journal Article
Managing juvenile Huntington's disease
Quarrell, Oliver W J, Nance, Martha A, Nopoulos, Peggy, Paulsen, Jane S, Smith, Jonathan A, Squitieri, Ferdinando
Published in Neurodegenerative Disease Management (01.06.2013)
Published in Neurodegenerative Disease Management (01.06.2013)
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Journal Article
Book Review
22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium
Baig, Sheharyar S, Strong, Mark, Rosser, Elisabeth, Taverner, Nicola V, Glew, Ruth, Miedzybrodzka, Zosia, Clarke, Angus, Craufurd, David, Quarrell, Oliver W
Published in European journal of human genetics : EJHG (01.10.2016)
Published in European journal of human genetics : EJHG (01.10.2016)
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Journal Article
Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia
Vasudevan, Pradeep C, Twigg, Stephen R F, Mulliken, John B, Cook, Jackie A, Quarrell, Oliver W J, Wilkie, Andrew O M
Published in European journal of human genetics : EJHG (01.07.2006)
Published in European journal of human genetics : EJHG (01.07.2006)
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Journal Article
The Impact of Juvenile Huntington's Disease on the Family: The Case of a Rare Childhood Condition
Brewer, Helen M., Eatough, Virginia, Smith, Jonathan A., Stanley, Cath A., Glendinning, Neil W., Quarrell, Oliver W.J.
Published in Journal of health psychology (01.01.2008)
Published in Journal of health psychology (01.01.2008)
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Journal Article
Defining pediatric huntington disease: Time to abandon the term Juvenile Huntington Disease?
Quarrell, Oliver W. J., Nance, Martha A., Nopoulos, Peg, Reilmann, Ralf, Oosterloo, Mayke, Tabrizi, Sarah J., Furby, Hannah, Saft, Carsten, Roos, Raymund A. C., Squitieri, Ferdinando, Landwehrmeyer, G. Bernhard, Burgunder, Jean‐Marc
Published in Movement disorders (01.04.2019)
Published in Movement disorders (01.04.2019)
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Journal Article
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study
Loong, Lucy, Tardivo, Agostina, Knaus, Alexej, Hashim, Mona, Pagnamenta, Alistair T., Alt, Kerstin, Böhrer-Rabel, Helena, Caro-Llopis, Alfonso, Cole, Trevor, Distelmaier, Felix, Edery, Patrick, Ferreira, Carlos R., Jezela-Stanek, Aleksandra, Kerr, Bronwyn, Kluger, Gerhard, Krawitz, Peter M., Kuhn, Marius, Lemke, Johannes R., Lesca, Gaetan, Lynch, Sally Ann, Martinez, Francisco, Maxton, Caroline, Mierzewska, Hanna, Monfort, Sandra, Nicolai, Joost, Orellana, Carmen, Pal, Deb K., Płoski, Rafał, Quarrell, Oliver W., Rosello, Monica, Rydzanicz, Małgorzata, Sabir, Ataf, Śmigiel, Robert, Stegmann, Alexander P.A., Stewart, Helen, Stumpel, Constance, Szczepanik, Elżbieta, Tzschach, Andreas, Wolfe, Lynne, Taylor, Jenny C., Murakami, Yoshiko, Kinoshita, Taroh, Bayat, Allan, Kini, Usha
Published in Genetics in medicine (01.01.2023)
Published in Genetics in medicine (01.01.2023)
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Journal Article
27 years of prenatal diagnosis for Huntington disease in the United Kingdom
Piña-Aguilar, Raul E., Simpson, Sheila A., Alshatti, Abdulrahman, Clarke, Angus, Craufurd, David, Dorkins, Huw, Doye, Karen, Lahiri, Nayana, Lashwood, Alison, Lynch, Colleen, Miller, Claire, Morton, Sally, O’Driscoll, Mary, Quarrell, Oliver W., Rae, Daniela, Strong, Mark, Tomlinson, Charlotte, Turnpenny, Peter, Miedzybrodzka, Zosia
Published in Genetics in medicine (01.07.2019)
Published in Genetics in medicine (01.07.2019)
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Journal Article
22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium
Baig, Sheharyar S, Strong, Mark, Rosser, Elisabeth, Taverner, Nicola V, Glew, Ruth, Miedzybrodzka, Zosia, Clarke, Angus, Craufurd, David, Disease Prediction Consortium, Uk Huntington's, Quarrell, Oliver W
Published in European journal of human genetics : EJHG (01.10.2016)
Published in European journal of human genetics : EJHG (01.10.2016)
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Journal Article
Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa
Hale, Gordon I, Cohen, Marta C, Quarrell, Oliver W, McGrath, John A, Messenger, Andrew G
Published in Pediatric and developmental pathology (01.11.2018)
Published in Pediatric and developmental pathology (01.11.2018)
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Journal Article
Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome
Stewart, Douglas R., Huang, Alina, Faravelli, Francesca, Anderlid, Britt-Marie, Medne, Livija, Ciprero, Karen, Kaur, Maninder, Rossi, Elena, Tenconi, Romano, Nordenskjöld, Magnus, Gripp, Karen W., Nicholson, Linda, Meschino, Wendy S., Capua, Esther, Quarrell, Oliver W.J., Flint, Jonathon, Irons, Mira, Giampietro, Philip F., Schowalter, David B., Zaleski, Christina A., Malacarne, Michela, Zackai, Elaine H., Spinner, Nancy B., Krantz, Ian D.
Published in American journal of medical genetics. Part A (01.08.2004)
Published in American journal of medical genetics. Part A (01.08.2004)
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Journal Article
Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences
Quarrell, Oliver W., Clarke, Angus J., Compton, Cecilia, de Die‐Smulders, Christine E.M., Fryer, Alan, Jenkins, Sian, Lahiri, Nayana, MacLeod, Rhona, Miedzybrodzka, Zosia, Morrison, Patrick J., Musgrave, Hannah, O'Driscoll, Mary, Strong, Mark, van Belzen, Martine J., Vermeer, Sascha, Verschuuren‐Bemelmans, Corien C., Bijlsma, Emilia K.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.01.2018)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.01.2018)
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Journal Article
Letter in Response to Tibben et al., Risk Assessment for Huntington’s Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners
Quarrell, Oliver W., Delatycki, Martin B., Clarke, Angus J., Lahiri, Nayana, Craufurd, David, Miedzybrodzka, Zosia, MacLeod, Rhona, Renwick, Pamela, Tomlinson, Charlotte
Published in Journal of Huntington's disease (01.01.2019)
Published in Journal of Huntington's disease (01.01.2019)
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Journal Article
Telomere healing following DNA polymerase arrest‐induced breakages is likely the main mechanism generating chromosome 4p terminal deletions
Hannes, Femke, Houdt, Jeroen Van, Quarrell, Oliver W, Poot, Martin, Hochstenbach, Ron, Fryns, Jean‐Pierre, Vermeesch, Joris R
Published in Human mutation (01.12.2010)
Published in Human mutation (01.12.2010)
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Journal Article
Wolf-Hirschhorn syndrome: a historical note and comment on an older adult
Searle, Claire J, Shearing, Emma, Quarrell, Oliver W
Published in Clinical dysmorphology (01.10.2013)
Published in Clinical dysmorphology (01.10.2013)
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