Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions
Heyn, Patricia, Logan, Clare V., Fluteau, Adeline, Challis, Rachel C., Auchynnikava, Tatsiana, Martin, Carol-Anne, Marsh, Joseph A., Taglini, Francesca, Kilanowski, Fiona, Parry, David A., Cormier-Daire, Valerie, Fong, Chin-To, Gibson, Kate, Hwa, Vivian, Ibáñez, Lourdes, Robertson, Stephen P., Sebastiani, Giorgia, Rappsilber, Juri, Allshire, Robin C., Reijns, Martin A. M., Dauber, Andrew, Sproul, Duncan, Jackson, Andrew P.
Published in Nature genetics (01.01.2019)
Published in Nature genetics (01.01.2019)
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Journal Article
Mutations in TJP2 cause progressive cholestatic liver disease
Sambrotta, Melissa, Strautnieks, Sandra, Papouli, Efterpi, Rushton, Peter, Clark, Barnaby E, Parry, David A, Logan, Clare V, Newbury, Lucy J, Kamath, Binita M, Ling, Simon, Grammatikopoulos, Tassos, Wagner, Bart E, Magee, John C, Sokol, Ronald J, Mieli-Vergani, Giorgina, Smith, Joshua D, Johnson, Colin A, McClean, Patricia, Simpson, Michael A, Knisely, A S, Bull, Laura N, Thompson, Richard J
Published in Nature genetics (01.04.2014)
Published in Nature genetics (01.04.2014)
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Journal Article
Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte
Parry, David A., Logan, Clare V., Hayward, Bruce E., Shires, Michael, Landolsi, Hanène, Diggle, Christine, Carr, Ian, Rittore, Cécile, Touitou, Isabelle, Philibert, Laurent, Fisher, Rosemary A., Fallahian, Masoumeh, Huntriss, John D., Picton, Helen M., Malik, Saghira, Taylor, Graham R., Johnson, Colin A., Bonthron, David T., Sheridan, Eamonn G.
Published in American journal of human genetics (09.09.2011)
Published in American journal of human genetics (09.09.2011)
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Journal Article
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain
Logan, Clare V., Cossins, Judith, Rodríguez Cruz, Pedro M., Parry, David A., Maxwell, Susan, Martínez-Martínez, Pilar, Riepsaame, Joey, Abdelhamed, Zakia A., Lake, Alice V.R., Moran, Maria, Robb, Stephanie, Chow, Gabriel, Sewry, Caroline, Hopkins, Philip M., Sheridan, Eamonn, Jayawant, Sandeep, Palace, Jacqueline, Johnson, Colin A., Beeson, David
Published in American journal of human genetics (03.12.2015)
Published in American journal of human genetics (03.12.2015)
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Journal Article
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia
Makrythanasis, Periklis, Kato, Mitsuhiro, Zaki, Maha S., Saitsu, Hirotomo, Nakamura, Kazuyuki, Santoni, Federico A., Miyatake, Satoko, Nakashima, Mitsuko, Issa, Mahmoud Y., Guipponi, Michel, Letourneau, Audrey, Logan, Clare V., Roberts, Nicola, Parry, David A., Johnson, Colin A., Matsumoto, Naomichi, Hamamy, Hanan, Sheridan, Eamonn, Kinoshita, Taroh, Antonarakis, Stylianos E., Murakami, Yoshiko
Published in American journal of human genetics (07.04.2016)
Published in American journal of human genetics (07.04.2016)
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Journal Article
Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta
Parry, David A., Smith, Claire E.L., El-Sayed, Walid, Poulter, James A., Shore, Roger C., Logan, Clare V., Mogi, Chihiro, Sato, Koichi, Okajima, Fumikazu, Harada, Akihiro, Zhang, Hong, Koruyucu, Mine, Seymen, Figen, Hu, Jan C.-C., Simmer, James P., Ahmed, Mushtaq, Jafri, Hussain, Johnson, Colin A., Inglehearn, Chris F., Mighell, Alan J.
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
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Journal Article
Identification of Mutations in SLC24A4, Encoding a Potassium-Dependent Sodium/Calcium Exchanger, as a Cause of Amelogenesis Imperfecta
Parry, David A., Poulter, James A., Logan, Clare V., Brookes, Steven J., Jafri, Hussain, Ferguson, Christopher H., Anwari, Babra M., Rashid, Yasmin, Zhao, Haiqing, Johnson, Colin A., Inglehearn, Chris F., Mighell, Alan J.
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 GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia
Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Sheridan, Eamonn, Ehresmann, Sophie, Rousseau, Justine, St-Denis, Anik, Chai, Guoliang, Ajeawung, Norbert F., Fairbrother, Laura, Reimschisel, Tyler, Bateman, Alexandra, Berry-Kravis, Elizabeth, Xia, Fan, Tardif, Jessica, Parry, David A., Logan, Clare V., Diggle, Christine, Bennett, Christopher P., Hattingh, Louise, Rosenfeld, Jill A., Perry, Michael Scott, Parker, Michael J., Le Deist, Françoise, Zaki, Maha S., Ignatius, Erika, Isohanni, Pirjo, Lönnqvist, Tuula, Carroll, Christopher J., Johnson, Colin A., Gleeson, Joseph G., Kinoshita, Taroh, Campeau, Philippe M.
Published in American journal of human genetics (02.11.2017)
Published in American journal of human genetics (02.11.2017)
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Journal Article
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration
Koenekoop, Robert K, Wang, Hui, Majewski, Jacek, Wang, Xia, Lopez, Irma, Ren, Huanan, Chen, Yiyun, Li, Yumei, Fishman, Gerald A, Genead, Mohammed, Schwartzentruber, Jeremy, Solanki, Naimesh, Traboulsi, Elias I, Cheng, Jingliang, Logan, Clare V, McKibbin, Martin, Hayward, Bruce E, Parry, David A, Johnson, Colin A, Nageeb, Mohammed, Poulter, James A, Mohamed, Moin D, Jafri, Hussain, Rashid, Yasmin, Taylor, Graham R, Keser, Vafa, Mardon, Graeme, Xu, Huidan, Inglehearn, Chris F, Fu, Qing, Toomes, Carmel, Chen, Rui
Published in Nature genetics (01.09.2012)
Published in Nature genetics (01.09.2012)
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Journal Article
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium
Lee, Ji Eun, Silhavy, Jennifer L, Zaki, Maha S, Schroth, Jana, Bielas, Stephanie L, Marsh, Sarah E, Olvera, Jesus, Brancati, Francesco, Iannicelli, Miriam, Ikegami, Koji, Schlossman, Andrew M, Merriman, Barry, Attié-Bitach, Tania, Logan, Clare V, Glass, Ian A, Cluckey, Andrew, Louie, Carrie M, Lee, Jeong Ho, Raynes, Hilary R, Rapin, Isabelle, Castroviejo, Ignacio P, Setou, Mitsutoshi, Barbot, Clara, Boltshauser, Eugen, Nelson, Stanley F, Hildebrandt, Friedhelm, Johnson, Colin A, Doherty, Daniel A, Valente, Enza Maria, Gleeson, Joseph G
Published in Nature genetics (01.02.2012)
Published in Nature genetics (01.02.2012)
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Journal Article
The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome
Farach, Laura S., Little, Mary E., Duker, Angela L., Logan, Clare V., Jackson, Andrew, Hecht, Jaqueline T., Bober, Michael
Published in American journal of medical genetics. Part A (01.02.2018)
Published in American journal of medical genetics. Part A (01.02.2018)
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Journal Article
A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency
Parry, David A., PhD, Holmes, Tim D., PhD, Gamper, Nikita, PhD, El-Sayed, Walid, BDS, PhD, Hettiarachchi, Nishani T., PhD, Ahmed, Mushtaq, PhD, Cook, Graham P., PhD, Logan, Clare V., PhD, Johnson, Colin A., PhD, Joss, Shelagh, MRCP, Peers, Chris, PhD, Prescott, Katrina, FRCP, Savic, Sinisa, FRCP, PhD, Inglehearn, Chris F., PhD, Mighell, Alan J., FDSRCS, PhD
Published in Journal of allergy and clinical immunology (01.03.2016)
Published in Journal of allergy and clinical immunology (01.03.2016)
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Journal Article
Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome
Cantagrel, Vincent, Silhavy, Jennifer L., Bielas, Stephanie L., Swistun, Dominika, Marsh, Sarah E., Bertrand, Julien Y., Audollent, Sophie, Attié-Bitach, Tania, Holden, Kenton R., Dobyns, William B., Traver, David, Al-Gazali, Lihadh, Ali, Bassam R., Lindner, Tom H., Caspary, Tamara, Otto, Edgar A., Hildebrandt, Friedhelm, Glass, Ian A., Logan, Clare V., Johnson, Colin A., Bennett, Christopher, Brancati, Francesco, Valente, Enza Maria, Woods, C. Geoffrey, Gleeson, Joseph G.
Published in American journal of human genetics (01.08.2008)
Published in American journal of human genetics (01.08.2008)
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Journal Article
Regulation of canonical Wnt signalling by the ciliopathy protein MKS1 and the E2 ubiquitin-conjugating enzyme UBE2E1
Szymanska, Katarzyna, Boldt, Karsten, Logan, Clare V, Adams, Matthew, Robinson, Philip A, Ueffing, Marius, Zeqiraj, Elton, Wheway, Gabrielle, Johnson, Colin A
Published in eLife (16.02.2022)
Published in eLife (16.02.2022)
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Journal Article
Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia
Panagiotou, Evangelia S, Fernandez-Fuentes, Narcis, Farraj, Layal Abi, McKibbin, Martin, Elçioglu, Nursel H, Jafri, Hussain, Cerman, Eren, Parry, David A, Logan, Clare V, Johnson, Colin A, Inglehearn, Chris F, Toomes, Carmel, Ali, Manir
Published in Molecular vision (2022)
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Published in Molecular vision (2022)
Journal Article
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)
Logan, Clare V, Lucke, Barbara, Pottinger, Caroline, Abdelhamed, Zakia A, Parry, David A, Szymanska, Katarzyna, Diggle, Christine P, van Riesen, Anne, Morgan, Joanne E, Markham, Grace, Ellis, Ian, Manzur, Adnan Y, Markham, Alexander F, Shires, Mike, Helliwell, Tim, Scoto, Mariacristina, Hübner, Christoph, Bonthron, David T, Taylor, Graham R, Sheridan, Eamonn, Muntoni, Francesco, Carr, Ian M, Schuelke, Markus, Johnson, Colin A
Published in Nature genetics (01.12.2011)
Published in Nature genetics (01.12.2011)
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Journal Article
Mutations in C4orf26, Encoding a Peptide with In Vitro Hydroxyapatite Crystal Nucleation and Growth Activity, Cause Amelogenesis Imperfecta
Parry, David A., Brookes, Steven J., Logan, Clare V., Poulter, James A., El-Sayed, Walid, Al-Bahlani, Suhaila, Al Harasi, Sharifa, Sayed, Jihad, Raïf, El Mostafa, Shore, Roger C., Dashash, Mayssoon, Barron, Martin, Morgan, Joanne E., Carr, Ian M., Taylor, Graham R., Johnson, Colin A., Aldred, Michael J., Dixon, Michael J., Wright, J. Tim, Kirkham, Jennifer, Inglehearn, Chris F., Mighell, Alan J.
Published in American journal of human genetics (07.09.2012)
Published in American journal of human genetics (07.09.2012)
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Journal Article
SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid
Parry, David A., Logan, Clare V., Stegmann, Alexander P.A., Abdelhamed, Zakia A., Calder, Alistair, Khan, Shabana, Bonthron, David T., Clowes, Virginia, Sheridan, Eamonn, Ghali, Neeti, Chudley, Albert E., Dobbie, Angus, Stumpel, Constance T.R.M., Johnson, Colin A.
Published in American journal of human genetics (05.12.2013)
Published in American journal of human genetics (05.12.2013)
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Journal Article
Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus
JEONG HO LEE, SILHAVY, Jennifer L, GABRIEL, Stacey B, RUSS, Carsten, LOGAN, Clare V, MALIK SHARIF, Saghira, BENNETT, Christopher P, ABE, Masumi, HILDEBRANDT, Friedhelm, DIPLAS, Bill H, ATTIE-BITACH, Tania, KATSANIS, Nicholas, JI EUN LEE, RAJAB, Anna, KOUL, Roshan, SZTRIHA, Laszlo, WATERS, Elizabeth R, FERRO-NOVICK, Susan, GEOFFREY WOODS, C, JOHNSON, Colin A, MARIA VALENCE, Enza, ZAKI, Maha S, GLEESON, Joseph G, AL-GAZALI, Lihadh, THOMAS, Sophie, DAVIS, Erica E, BIELAS, Stephanie L, HILL, Kiley J, LANNICELLI, Miriam, BRANCATI, Francesco
Published in Science (American Association for the Advancement of Science) (24.02.2012)
Published in Science (American Association for the Advancement of Science) (24.02.2012)
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Journal Article
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing
Watson, Christopher M, El-Asrag, Mohammed, Parry, David A, Morgan, Joanne E, Logan, Clare V, Carr, Ian M, Sheridan, Eamonn, Charlton, Ruth, Johnson, Colin A, Taylor, Graham, Toomes, Carmel, McKibbin, Martin, Inglehearn, Chris F, Ali, Manir
Published in PloS one (18.08.2014)
Published in PloS one (18.08.2014)
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