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 no J Med Genet (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 em 2012

MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency

por Knapp, Karen M., Jenkins, Danielle E., Sullivan, Rosie, Harms, Frederike L., von Elsner, Leonie, Ockeloen, Charlotte W., de Munnik, Sonja, Bongers, Ernie M. H. F., Murray, Jennie, Pachter, Nicholas, Denecke, Jonas, Kutsche, Kerstin, Bicknell, Louise S.
Publicado no Eur J Hum Genet (2021)

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 no Hum Mutat (2019)

Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism

por Murray, Jennie E., van der Burg, Mirjam, IJspeert, Hanna, Carroll, Paula, Wu, Qian, Ochi, Takashi, Leitch, Andrea, Miller, Edward S., Kysela, Boris, Jawad, Alireza, Bottani, Armand, Brancati, Francesco, Cappa, Marco, Cormier-Daire, Valerie, Deshpande, Charu, Faqeih, Eissa A., Graham, Gail E., Ranza, Emmanuelle, Blundell, Tom L., Jackson, Andrew P., Stewart, Grant S., Bicknell, Louise S.
Publicado no Am J Hum Genet (2015)

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 no Genes Dev (2016)

Corrigendum: Mutations in genes encoding condensins 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 no Genes Dev (2017)

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 em 2014

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 no Nat Genet (2014)

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

por Fenwick, Aimee L., Kliszczak, Maciej, Cooper, Fay, Murray, Jennie, Sanchez-Pulido, Luis, Twigg, Stephen R.F., Goriely, Anne, McGowan, Simon J., Miller, Kerry A., Taylor, Indira B., Logan, Clare, Bozdogan, Sevcan, Danda, Sumita, Dixon, Joanne, Elsayed, Solaf M., Elsobky, Ezzat, Gardham, Alice, Hoffer, Mariette J.V., Koopmans, Marije, McDonald-McGinn, Donna M., Santen, Gijs W.E., Savarirayan, Ravi, de Silva, Deepthi, Vanakker, Olivier, Wall, Steven A., Wilson, Louise C., Yuregir, Ozge Ozalp, Zackai, Elaine H., Ponting, Chris P., Jackson, Andrew P., Wilkie, Andrew O.M., Niedzwiedz, Wojciech, Bicknell, Louise S.
Publicado no Am J Hum Genet (2016)

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

por Logan, Clare V., Murray, Jennie E., Parry, David A., Robertson, Andrea, Bellelli, Roberto, Tarnauskaitė, Žygimantė, Challis, Rachel, Cleal, Louise, Borel, Valerie, Fluteau, Adeline, Santoyo-Lopez, Javier, Aitman, Tim, Barroso, Inês, Basel, Donald, Bicknell, Louise S., Goel, Himanshu, Hu, Hao, Huff, Chad, Hutchison, Michele, Joyce, Caroline, Knox, Rachel, Lacroix, Amy E., Langlois, Sylvie, McCandless, Shawn, McCarrier, Julie, Metcalfe, Kay A., Morrissey, Rose, Murphy, Nuala, Netchine, Irène, O’Connell, Susan M., Olney, Ann Haskins, Paria, Nandina, Rosenfeld, Jill A., Sherlock, Mark, Syverson, Erin, White, Perrin C., Wise, Carol, Yu, Yao, Zacharin, Margaret, Banerjee, Indraneel, Reijns, Martin, Bober, Michael B., Semple, Robert K., Boulton, Simon J., Rios, Jonathan J., Jackson, Andrew P.
Publicado no Am J Hum Genet (2018)

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

por Reynolds, John J, Bicknell, Louise S, Carroll, Paula, Higgs, Martin R, Shaheen, Ranad, Murray, Jennie E, Papadopoulos, Dimitrios K, Leitch, Andrea, Murina, Olga, Tarnauskaitė, Žygimantė, Wessel, Sarah R, Zlatanou, Anastasia, Vernet, Audrey, von Kriegsheim, Alex, Mottram, Rachel MA, Logan, Clare V, Bye, Hannah, Li, Yun, Brean, Alexander, Maddirevula, Sateesh, Challis, Rachel C, Skouloudaki, Kassiani, Almoisheer, Agaadir, Alsaif, Hessa S, Amar, Ariella, Prescott, Natalie J, Bober, Michael B, Duker, Angela, Faqeih, Eissa, Seidahmed, Mohammed Zain, Al Tala, Saeed, Alswaid, Abdulrahman, Ahmed, Saleem, Al-Aama, Jumana Yousuf, Altmüller, Janine, Al Balwi, Mohammed, Brady, Angela F, Chessa, Luciana, Cox, Helen, Fischetto, Rita, Heller, Raoul, Henderson, Bertram D, Hobson, Emma, Nürnberg, Peter, Percin, E Ferda, Peron, Angela, Spaccini, Luigina, Quigley, Alan J, Thakur, Seema, Wise, Carol A, Yoon, Grace, Alnemer, Maha, Tomancak, Pavel, Yigit, Gökhan, Taylor, A Malcolm R, Reijns, Martin AM, Simpson, Michael A, Cortez, David, Alkuraya, Fowzan S, Mathew, Christopher G, Jackson, Andrew P, Stewart, Grant S
Publicado no Nat Genet (2017)