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1.

Extent of investigation and management of cases of 'unexplained' mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus.

McVeigh, Terri Patricia; Monahan, Kevin J; Christopher, Joseph; West, Nick; Scott, Malcolm; Murray, Jennie; Hanson, Helen.

J Med Genet ; 2024 Apr 06.

Article in English | MEDLINE | ID: mdl-38531626

2.

UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.

Hanson, Helen; Kulkarni, Anjana; Loong, Lucy; Kavanaugh, Grace; Torr, Bethany; Allen, Sophie; Ahmed, Munaza; Antoniou, Antonis C; Cleaver, Ruth; Dabir, Tabib; Evans, D Gareth; Golightly, Ellen; Jewell, Rosalyn; Kohut, Kelly; Manchanda, Ranjit; Murray, Alex; Murray, Jennie; Ong, Kai-Ren; Rosenthal, Adam N; Woodward, Emma Roisin; Eccles, Diana M; Turnbull, Clare; Tischkowitz, Marc; Lalloo, Fiona.

J Med Genet ; 60(5): 417-429, 2023 05.

Article in English | MEDLINE | ID: mdl-36411032

3.

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

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.

Genes Dev ; 30(19): 2158-2172, 2016 Oct 01.

Article in English | MEDLINE | ID: mdl-27737959

4.

Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium.

Kast, Karin; John, Esther M; Hopper, John L; Andrieu, Nadine; Noguès, Catherine; Mouret-Fourme, Emmanuelle; Lasset, Christine; Fricker, Jean-Pierre; Berthet, Pascaline; Mari, Véronique; Salle, Lucie; Schmidt, Marjanka K; Ausems, Margreet G E M; Garcia, Encarnacion B Gomez; van de Beek, Irma; Wevers, Marijke R; Evans, D Gareth; Tischkowitz, Marc; Lalloo, Fiona; Cook, Jackie; Izatt, Louise; Tripathi, Vishakha; Snape, Katie; Musgrave, Hannah; Sharif, Saba; Murray, Jennie; Colonna, Sarah V; Andrulis, Irene L; Daly, Mary B; Southey, Melissa C; de la Hoya, Miguel; Osorio, Ana; Foretova, Lenka; Berkova, Dita; Gerdes, Anne-Marie; Olah, Edith; Jakubowska, Anna; Singer, Christian F; Tan, Yen; Augustinsson, Annelie; Rantala, Johanna; Simard, Jacques; Schmutzler, Rita K; Milne, Roger L; Phillips, Kelly-Anne; Terry, Mary Beth; Goldgar, David; van Leeuwen, Flora E; Mooij, Thea M; Antoniou, Antonis C.

Breast Cancer Res ; 25(1): 72, 2023 06 20.

Article in English | MEDLINE | ID: mdl-37340476

5.

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

Logan, Clare V; Murray, Jennie E; Parry, David A; Robertson, Andrea; Bellelli, Roberto; Tarnauskaite, Zygimante; 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.

Am J Hum Genet ; 103(6): 1038-1044, 2018 12 06.

Article in English | MEDLINE | ID: mdl-30503519

6.

Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variants.

Knapp, Karen M; Murray, Jennie; Temple, I Karen; Bicknell, Louise S.

Am J Med Genet A ; 185(3): 871-876, 2021 03.

Article in English | MEDLINE | ID: mdl-33338304

7.

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

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.

J Med Genet ; 57(3): 195-202, 2020 03.

Article in English | MEDLINE | ID: mdl-31784481

8.

Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis.

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.

Genes Dev ; 31(9): 953, 2017 05 01.

Article in English | MEDLINE | ID: mdl-28566537

9.

Biallelic variants in DNA2 cause microcephalic primordial dwarfism.

Tarnauskaite, Zygimante; 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.

Hum Mutat ; 40(8): 1063-1070, 2019 08.

Article in English | MEDLINE | ID: mdl-31045292

10.

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

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.

Am J Hum Genet ; 99(1): 125-38, 2016 07 07.

Article in English | MEDLINE | ID: mdl-27374770

11.

Mutations in the NHEJ component XRCC4 cause primordial dwarfism.

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.

Am J Hum Genet ; 96(3): 412-24, 2015 Mar 05.

Article in English | MEDLINE | ID: mdl-25728776

12.

Extreme growth failure is a common presentation of ligase IV deficiency.

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.

Hum Mutat ; 35(1): 76-85, 2014 Jan.

Article in English | MEDLINE | ID: mdl-24123394

13.

Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.

Boztug, Kaan; Rosenberg, Philip S; Dorda, Marie; Banka, Siddharth; Moulton, Thomas; Curtin, Julie; Rezaei, Nima; Corns, John; Innis, Jeffrey W; Avci, Zekai; Tran, Hung Chi; Pellier, Isabelle; Pierani, Paolo; Fruge, Rachel; Parvaneh, Nima; Mamishi, Setareh; Mody, Rajen; Darbyshire, Phil; Motwani, Jayashree; Murray, Jennie; Buchanan, George R; Newman, William G; Alter, Blanche P; Boxer, Laurence A; Donadieu, Jean; Welte, Karl; Klein, Christoph.

J Pediatr ; 160(4): 679-683.e2, 2012 Apr.

Article in English | MEDLINE | ID: mdl-22050868

14.

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss.

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

Am J Med Genet A ; 158A(10): 2577-82, 2012 Oct.

Article in English | MEDLINE | ID: mdl-22887808

15.

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations.

Bober, Michael B; Niiler, Tim; Duker, Angela L; Murray, Jennie E; Ketterer, Tara; Harley, Margaret E; Alvi, Sabah; Flora, Christina; Rustad, Cecilie; Bongers, Ernie M H F; Bicknell, Louise S; Wise, Carol; Jackson, Andrew P.

Am J Med Genet A ; 158A(11): 2719-25, 2012 Nov.

Article in English | MEDLINE | ID: mdl-22821869

16.

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

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.

Eur J Hum Genet ; 29(7): 1110-1120, 2021 07.

Article in English | MEDLINE | ID: mdl-33654309

17.

Murray and Jackson reply.

Murray, Jennie; Jackson, Andrew.

Dev Med Child Neurol ; 55(2): 194, 2013 Feb.

Article in English | MEDLINE | ID: mdl-23134456

18.

Exploring microcephaly and human brain evolution.

Murray, Jennie E; Jackson, Andrew P.

Dev Med Child Neurol ; 54(7): 580-1, 2012 Jul.

Article in English | MEDLINE | ID: mdl-22571810

19.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.

Reynolds, John J; Bicknell, Louise S; Carroll, Paula; Higgs, Martin R; Shaheen, Ranad; Murray, Jennie E; Papadopoulos, Dimitrios K; Leitch, Andrea; Murina, Olga; Tarnauskaite, Zygimante; Wessel, Sarah R; Zlatanou, Anastasia; Vernet, Audrey; von Kriegsheim, Alex; Mottram, Rachel M A; 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.

Nat Genet ; 49(4): 537-549, 2017 Apr.

Article in English | MEDLINE | ID: mdl-28191891

20.

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

Ansari, Morad; Rainger, Jacqueline K; Murray, Jennie E; Hanson, Isabel; Firth, Helen V; Mehendale, Felicity; Amiel, Jeanne; Gordon, Christopher T; Percesepe, Antonio; Mazzanti, Laura; Fryer, Alan; Ferrari, Paola; Devriendt, Koenraad; Temple, I Karen; FitzPatrick, David R.

Eur J Med Genet ; 57(10): 587-95, 2014 Oct.

Article in English | MEDLINE | ID: mdl-25195018

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