The molecular genetics of nELAVL in brain development and disease

por Mulligan, Meghan R., Bicknell, Louise S.
Publicado 2023

The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome

por Nielsen-Dandoroff, Emily, Ruegg, Mischa S. G., Bicknell, Louise S.
Publicado 2023

Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndrome

por Carter, Shannon, Fellows, Bridget J., Gibson, Kate, Bicknell, Louise S.
Publicado 2022

Quantifying single nucleotide variant detection sensitivity in exome sequencing

por Meynert, Alison M, Bicknell, Louise S, Hurles, Matthew E, Jackson, Andrew P, Taylor, Martin S
Publicado 2013

Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1

por Krøigård, Anne B., Jackson, Andrew P., Bicknell, Louise S., Baple, Emma, Brusgaard, Klaus, Hansen, Lars K., Ousager, Lilian B.
Publicado 2016

Rare variants of the 3’-5’ DNA exonuclease TREX1 in early onset small vessel stroke

por McGlasson, Sarah, Rannikmäe, Kristiina, Bevan, Steven, Logan, Clare, Bicknell, Louise S., Jury, Alexa, Jackson, Andrew P., Markus, Hugh S., Sudlow, Cathie, Hunt, David P.J.
Publicado 2017

Cerebral organoids model human brain development and microcephaly

por Lancaster, Madeline A., Renner, Magdalena, Martin, Carol-Anne, Wenzel, Daniel, Bicknell, Louise S., Hurles, Matthew E., Homfray, Tessa, Penninger, Josef M., Jackson, Andrew P., Knoblich, Juergen A.
Publicado 2013

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome

por Knapp, Karen M, Sullivan, Rosie, Murray, Jennie, Gimenez, Gregory, Arn, Pamela, D'Souza, Precilla, Gezdirici, Alper, Wilson, William G, Jackson, Andrew P, Ferreira, Carlos, Bicknell, Louise S
Publicado 2020

A Novel Nonsense CDK5RAP2 Mutation in a Somali Child With Primary Microcephaly and Sensorineural Hearing Loss

por Pagnamenta, Alistair T, Murray, Jennie E, Yoon, Grace, Akha, Elham Sadighi, Harrison, Victoria, Bicknell, Louise S, Ajilogba, Kaseem, Stewart, Helen, Kini, Usha, Taylor, Jenny C, Keays, David A, Jackson, Andrew P, Knight, Samantha JL
Publicado 2012

Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity

por Blakes, Alexander J. M., Gaul, Emily, Lam, Wayne, Shannon, Nora, Knapp, Karen M., Bicknell, Louise S., Jackson, Meremaihi R., Wade, Emma M., Robertson, Stephen, White, Susan M., Heller, Raoul, Chase, Andrew, Baralle, Diana, Douglas, Andrew G. L.
Publicado 2020

Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes

por Huang-Doran, Isabel, Bicknell, Louise S., Finucane, Francis M., Rocha, Nuno, Porter, Keith M., Tung, Y.C. Loraine, Szekeres, Ferenc, Krook, Anna, Nolan, John J., O’Driscoll, Mark, Bober, Michael, O’Rahilly, Stephen, Jackson, Andrew P., Semple, Robert K.
Publicado 2011

Biallelic variants in DNA2 cause microcephalic primordial dwarfism

por Tarnauskaitė, Žygimantė, Bicknell, Louise S., Marsh, Joseph A., Murray, Jennie E., Parry, David A., Logan, Clare V., Bober, Michael B., de Silva, Deepthi C., Duker, Angela L., Sillence, David, Wise, Carol, Jackson, Andrew P., Murina, Olga, Reijns, Martin A. M.
Publicado 2019

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis

por Martin, Carol-Anne, Murray, Jennie E., Carroll, Paula, Leitch, Andrea, Mackenzie, Karen J., Halachev, Mihail, Fetit, Ahmed E., Keith, Charlotte, Bicknell, Louise S., Fluteau, Adeline, Gautier, Philippe, Hall, Emma A., Joss, Shelagh, Soares, Gabriela, Silva, João, Bober, Michael B., Duker, Angela, Wise, Carol A., Quigley, Alan J., Phadke, Shubha R., Wood, Andrew J., Vagnarelli, Paola, Jackson, Andrew P.
Publicado 2016

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

por Murray, Jennie E, Bicknell, Louise S, Yigit, Gökhan, Duker, Angela L, van Kogelenberg, Margriet, Haghayegh, Sara, Wieczorek, Dagmar, Kayserili, Hülya, Albert, Michael H, Wise, Carol A, Brandon, January, Kleefstra, Tjitske, Warris, Adilia, van der Flier, Michiel, Bamforth, J Steven, Doonanco, Kurston, Adès, Lesley, Ma, Alan, Field, Michael, Johnson, Diana, Shackley, Fiona, Firth, Helen, Woods, C Geoffrey, Nürnberg, Peter, Gatti, Richard A, Hurles, Matthew, Bober, Michael B, Wollnik, Bernd, Jackson, Andrew P
Publicado 2014

Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome

por Bicknell, Louise S., Bongers, Ernie M.H.F., Leitch, Andrea, Brown, Stephen, Schoots, Jeroen, Harley, Margaret E., Aftimos, Salim, Al-Aama, Jumana Y., Bober, Michael, Brown, Paul A. J., van Bokhoven, Hans, Dean, John, Edrees, Alaa Y., Feingold, Murray, Fryer, Alan, Hoefsloot, Lies H., Kau, Nikolaus, Knoers, Nine V.A.M., MacKenzie, James, Opitz, John M., Sarda, Pierre, Ross, Alison, Temple, I. Karen, Toutain, Annick, Wise, Carol A., Wright, Michael, Jackson, Andrew P.
Publicado 2011

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

por Waters, Aoife M, Asfahani, Rowan, Carroll, Paula, Bicknell, Louise, Lescai, Francesco, Bright, Alison, Chanudet, Estelle, Brooks, Anthony, Christou-Savina, Sonja, Osman, Guled, Walsh, Patrick, Bacchelli, Chiara, Chapgier, Ariane, Vernay, Bertrand, Bader, David M, Deshpande, Charu, O’ Sullivan, Mary, Ocaka, Louise, Stanescu, Horia, Stewart, Helen S, Hildebrandt, Friedhelm, Otto, Edgar, Johnson, Colin A, Szymanska, Katarzyna, Katsanis, Nicholas, Davis, Erica, Kleta, Robert, Hubank, Mike, Doxsey, Stephen, Jackson, Andrew, Stupka, Elia, Winey, Mark, Beales, Philip L
Publicado 2015

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

por Harley, Margaret E., Murina, Olga, Leitch, Andrea, Higgs, Martin R., Bicknell, Louise S., Yigit, Gökhan, Blackford, Andrew N., Zlatanou, Anastasia, Mackenzie, Karen J., Reddy, Kaalak, Halachev, Mihail, McGlasson, Sarah, Reijns, Martin A. M., Fluteau, Adeline, Martin, Carol-Anne, Sabbioneda, Simone, Elcioglu, Nursel H., Altmüller, Janine, Thiele, Holger, Greenhalgh, Lynn, Chessa, Luciana, Maghnie, Mohamad, Salim, Mahmoud, Bober, Michael B., Nürnberg, Peter, Jackson, Stephen P., Hurles, Matthew E., Wollnik, Bernd, Stewart, Grant S., Jackson, Andrew P.
Publicado 2015

Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

por Rainger, Joe, van Beusekom, Ellen, Ramsay, Jacqueline K., McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M., Schneider, Adele S., Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Mégarbané, Andre, Semerci, C. Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul, Sousa, Sérgio B., Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J., Gillessen-Kaesbach, Gabriele, Brunner, Han G., Wieczorek, Dagmar, van Bokhoven, Hans, FitzPatrick, David R.
Publicado 2011

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

por Rainger, Joe, van Beusekom, Ellen, Ramsay, Jacqueline K., McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M., Schneider, Adele S., Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Mégarbané, Andre, Semerci, C. Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul, Sousa, Sérgio B., Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J., Gillessen-Kaesbach, Gabriele, Brunner, Han G., Wieczorek, Dagmar, van Bokhoven, Hans, FitzPatrick, David R.
Publicado 2018

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

por Martin, Carol-Anne, Ahmad, Ilyas, Klingseisen, Anna, Hussain, Muhammad Sajid, Bicknell, Louise S, Leitch, Andrea, Nürnberg, Gudrun, Toliat, Mohammad Reza, Murray, Jennie E, Hunt, David, Khan, Fawad, Ali, Zafar, Tinschert, Sigrid, Ding, James, Keith, Charlotte, Harley, Margaret E, Heyn, Patricia, Müller, Rolf, Hoffmann, Ingrid, Cormier-Daire, Valérie, Dollfus, Hélène, Dupuis, Lucie, Bashamboo, Anu, McElreavey, Kenneth, Kariminejad, Ariana, Mendoza-Londono, Roberto, Moore, Anthony T, Saggar, Anand, Schlechter, Catie, Weleber, Richard, Thiele, Holger, Altmüller, Janine, Höhne, Wolfgang, Hurles, Matthew E, Noegel, Angelika Anna, Baig, Shahid Mahmood, Nürnberg, Peter, Jackson, Andrew P
Publicado 2014