Fine-scale population structure and demographic history of British Pakistanis
Arciero, Elena, Dogra, Sufyan A., Malawsky, Daniel S., Mezzavilla, Massimo, Tsismentzoglou, Theofanis, Huang, Qin Qin, Hunt, Karen A., Mason, Dan, Sharif, Saghira Malik, van Heel, David A., Sheridan, Eamonn, Wright, John, Small, Neil, Carmi, Shai, Iles, Mark M., Martin, Hilary C.
Published in Nature communications (10.12.2021)
Published in Nature communications (10.12.2021)
Get full text
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)
Get full text
Journal Article
Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy
Diggle, Christine P., Sukoff Rizzo, Stacey J., Popiolek, Michael, Hinttala, Reetta, Schülke, Jan-Philip, Kurian, Manju A., Carr, Ian M., Markham, Alexander F., Bonthron, David T., Watson, Christopher, Sharif, Saghira Malik, Reinhart, Veronica, James, Larry C., Vanase-Frawley, Michelle A., Charych, Erik, Allen, Melanie, Harms, John, Schmidt, Christopher J., Ng, Joanne, Pysden, Karen, Strick, Christine, Vieira, Päivi, Mankinen, Katariina, Kokkonen, Hannaleena, Kallioinen, Matti, Sormunen, Raija, Rinne, Juha O., Johansson, Jarkko, Alakurtti, Kati, Huilaja, Laura, Hurskainen, Tiina, Tasanen, Kaisa, Anttila, Eija, Marques, Tiago Reis, Howes, Oliver, Politis, Marius, Fahiminiya, Somayyeh, Nguyen, Khanh Q., Majewski, Jacek, Uusimaa, Johanna, Sheridan, Eamonn, Brandon, Nicholas J.
Published in American journal of human genetics (07.04.2016)
Published in American journal of human genetics (07.04.2016)
Get full text
Journal Article
The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis
Bakircioglu, Mehmet, Carvalho, Ofélia P., Khurshid, Maryam, Cox, James J., Tuysuz, Beyhan, Barak, Tanyeri, Yilmaz, Saliha, Caglayan, Okay, Dincer, Alp, Nicholas, Adeline K., Quarrell, Oliver, Springell, Kelly, Karbani, Gulshan, Malik, Saghira, Gannon, Caroline, Sheridan, Eamonn, Crosier, Moira, Lisgo, Steve N., Lindsay, Susan, Bilguvar, Kaya, Gergely, Fanni, Gunel, Murat, Woods, C. Geoffrey
Published in American journal of human genetics (13.05.2011)
Published in American journal of human genetics (13.05.2011)
Get full text
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)
Get full text
Journal Article
Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease
Woods, C. Geoffrey, Cox, James, Springell, Kelly, Hampshire, Daniel J., Mohamed, Moin D., McKibbin, Martin, Stern, Rowena, Raymond, F. Lucy, Sandford, Richard, Malik Sharif, Saghira, Karbani, Gulshan, Ahmed, Mustaq, Bond, Jacquelyn, Clayton, David, Inglehearn, Chris F.
Published in American journal of human genetics (01.05.2006)
Published in American journal of human genetics (01.05.2006)
Get full text
Journal Article
The transmembrane protein meckelin ( MKS3 ) is mutated in Meckel-Gruber syndrome and the wpk rat
Bennett, Christopher P, Attie-Bitach, Tania, Lilliquist, Stacie, Pasha, Shanaz, Harris, Peter C, Morgan, Neil V, Malik Sharif, Saghira, Maher, Eamonn R, Johnson, Colin A, Tee, Louise J, Maina, Esther N, Bucourt, Martine, Miller, Caroline A, Ward, Christopher J, Goranson, Erin, Trembath, Richard C, McKee, Brandy M, McKeown, Carole, Consugar, Mark, Torres, Vicente E, Cox, Phillip, Smith, Ursula M, Gattone, Vincent H, Whelan, Shelly, Aligianis, Irene A, Batman, Philip A, Woods, C Geoffrey, AlGazali, Lihadh, Punyashthiti, Rachaneekorn, Gissen, Paul, Kelly, Deirdre A
Published in Nature genetics (01.02.2006)
Published in Nature genetics (01.02.2006)
Get full text
Journal Article
Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain
Zhang, Stella, Malik Sharif, Saghira, Chen, Ya-Chun, Valente, Enza-Maria, Ahmed, Mushtaq, Sheridan, Eamonn, Bennett, Christopher, Woods, Geoffrey
Published in Journal of medical genetics (01.08.2016)
Published in Journal of medical genetics (01.08.2016)
Get full text
Journal Article
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies
Szymanska, Katarzyna, Berry, Ian, Logan, Clare V, Cousins, Simon Rr, Lindsay, Helen, Jafri, Hussain, Raashid, Yasmin, Malik-Sharif, Saghira, Castle, Bruce, Ahmed, Mushtag, Bennett, Chris, Carlton, Ruth, Johnson, Colin A
Published in Cilia (London) (01.10.2012)
Published in Cilia (London) (01.10.2012)
Get full text
Journal Article
A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24
MORGAN, Neil V, GISSEN, Paul, TREMBATH, Richard C, MAHER, Eamonn R, JOHNSON, Colin A, SAGHIRA MALIK SHARIF, BAUMBER, Laura, SUTHERLAND, Joan, KELLY, Deirdre A, AMINU, Kingi, BENNETT, Christopher P, WOODS, C. Geoffrey, MUELLER, Robert F
Published in Human genetics (01.10.2002)
Published in Human genetics (01.10.2002)
Get full text
Journal Article
Influence of autozygosity on common disease risk across the phenotypic spectrum
Malawsky, Daniel S., van Walree, Eva, Jacobs, Benjamin M., Heng, Teng Hiang, Huang, Qin Qin, Sabir, Ataf H., Rahman, Saadia, Sharif, Saghira Malik, Khan, Ahsan, Mirkov, Maša Umićević, Kuwahara, Hiroyuki, Gao, Xin, Alkuraya, Fowzan S., Posthuma, Danielle, Newman, William G., Griffiths, Christopher J., Mathur, Rohini, van Heel, David A., Finer, Sarah, O’Connell, Jared, Martin, Hilary C.
Published in Cell (12.10.2023)
Published in Cell (12.10.2023)
Get full text
Journal Article
Randomised controlled trial of simvastatin treatment for autism in young children with neurofibromatosis type 1 (SANTA)
Stivaros, Stavros, Garg, Shruti, Tziraki, Maria, Cai, Ying, Thomas, Owen, Mellor, Joseph, Morris, Andrew A, Jim, Carly, Szumanska-Ryt, Karolina, Parkes, Laura M, Haroon, Hamied A, Montaldi, Daniela, Webb, Nicholas, Keane, John, Castellanos, Francisco X, Silva, Alcino J, Huson, Sue, Williams, Stephen, Gareth Evans, D, Emsley, Richard, Green, Jonathan
Published in Molecular autism (22.02.2018)
Published in Molecular autism (22.02.2018)
Get full text
Journal Article
Early differences in auditory processing relate to Autism Spectrum Disorder traits in infants with Neurofibromatosis Type I
Begum-Ali, Jannath, Kolesnik-Taylor, Anna, Quiroz, Isabel, Mason, Luke, Garg, Shruti, Green, Jonathan, Johnson, Mark H, Jones, Emily J H
Published in Journal of neurodevelopmental disorders (28.05.2021)
Published in Journal of neurodevelopmental disorders (28.05.2021)
Get full text
Journal Article
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only
Evans, D.G., Bowers, N., Burkitt-Wright, E., Miles, E., Garg, S., Scott-Kitching, V., Penman-Splitt, M., Dobbie, A., Howard, E., Ealing, J., Vassalo, G., Wallace, A.J., Newman, W., Huson, S.M.
Published in EBioMedicine (01.05.2016)
Published in EBioMedicine (01.05.2016)
Get full text
Journal Article
Sex bias in autism spectrum disorder in neurofibromatosis type 1
Garg, Shruti, Heuvelman, Hein, Huson, Susan, Tobin, Hannah, Green, Jonathan
Published in Journal of neurodevelopmental disorders (26.07.2016)
Published in Journal of neurodevelopmental disorders (26.07.2016)
Get full text
Journal Article
Early development of infants with neurofibromatosis type 1: a case series
Kolesnik, Anna May, Jones, Emily Jane Harrison, Garg, Shruti, Green, Jonathan, Charman, Tony, Johnson, Mark Henry
Published in Molecular autism (23.11.2017)
Published in Molecular autism (23.11.2017)
Get full text
Journal Article
A family with Papillon-Lefèvre syndrome reveals a requirement for cathepsin C in granzyme B activation and NK cell cytolytic activity
Meade, Josephine L., de Wynter, Erika A., Brett, Peter, Sharif, Saghira Malik, Woods, C. Geoffrey, Markham, Alexander F., Cook, Graham P.
Published in Blood (01.05.2006)
Published in Blood (01.05.2006)
Get full text
Journal Article
Evolutionary Assembled cis-Regulatory Module at a Human Ciliopathy Locus
Lee, Jeong Ho, Silhavy, Jennifer L., Lee, Ji Eun, Al-Gazali, Lihadh, Thomas, Sophie, Davis, Erica E., Bielas, Stephanie L., Hill, Kiley J., Iannicelli, Miriam, Brancati, Francesco, Gabriel, Stacey B., Russ, Carsten, Logan, Clare V., Sharif, Saghira Malik, Bennett, Christopher P., Abe, Masumi, Hildebrandt, Friedhelm, Diplas, Bill H., Attié-Bitach, Tania, Katsanis, Nicholas, Rajab, Anna, Koul, Roshan, Sztriha, Laszlo, Waters, Elizabeth R., Ferro-Novick, Susan, Woods, C. Geoffrey, Johnson, Colin A., Valente, Enza Maria, Zaki, Maha S., Gleeson, Joseph G.
Published in Science (American Association for the Advancement of Science) (24.02.2012)
Get full text
Published in Science (American Association for the Advancement of Science) (24.02.2012)
Journal Article
Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion
Horsnell, Katherine, Ali, Manir, Malik, Saghira, Wilson, Louise, Hall, Christine, Debeer, Philippe, Crow, Yanick
Published in European journal of medical genetics (01.09.2006)
Published in European journal of medical genetics (01.09.2006)
Get full text
Journal Article