Publications:

Tracking early lung cancer metastatic dissemination in TRACERx using ctDNA.

Nature

Abbosh, Christopher C; Frankell, Alexander M AM; Harrison, Thomas T; Kisistok, Judit J; Garnett, Aaron A; Johnson, Laura L; Veeriah, Selvaraju S; Moreau, Mike M; Chesh, Adrian A; Chaunzwa, Tafadzwa L TL; Weiss, Jakob J; Schroeder, Morgan R MR; Ward, Sophia S; Grigoriadis, Kristiana K; Shahpurwalla, Aamir A; Litchfield, Kevin K; Puttick, Clare C; Biswas, Dhruva D; Karasaki, Takahiro T; Black, James R M JRM; Martínez-Ruiz, Carlos C; Bakir, Maise Al MA; Pich, Oriol O; Watkins, Thomas B K TBK; Lim, Emilia L EL; Huebner, Ariana A; Moore, David A DA; Godin-Heymann, Nadia N; L'Hernault, Anne A; Bye, Hannah H; Odell, Aaron A; Roberts, Paula P; Gomes, Fabio F; Patel, Akshay J AJ; Manzano, Elizabeth E; Hiley, Crispin T CT; Carey, Nicolas N; Riley, Joan J; Cook, Daniel E DE; Hodgson, Darren D; Stetson, Daniel D; Barrett, J Carl JC; Kortlever, Roderik M RM; Evan, Gerard I GI; Hackshaw, Allan A; Daber, Robert D RD; Shaw, Jacqui A JA; Aerts, Hugo J W L HJWL; Licon, Abel A; Stahl, Josh J; Jamal-Hanjani, Mariam M; , ; Birkbak, Nicolai J NJ; McGranahan, Nicholas N; Swanton, Charles C

Publication Date: 2023-04-13

Variant appearance in text: KMT2D: R3582Q

PubMed Link: 37055640

Variant Present in the following documents:

• EMS176197-supplement-Supplementary_Table_1.xlsx, sheet 18

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Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.

Human Molecular Genetics

Wilson, Kate K; Newbury, Dianne F DF; Kini, Usha U

Publication Date: 2023-04-03

Variant appearance in text: KMT2D: 10745G>A; Arg3582Gln

PubMed Link: 37010288

Variant Present in the following documents:

• supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx, sheet 5

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: KMT2D: R3582Q

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3

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Alterations in homologous recombination repair genes in prostate cancer brain metastases.

Nature Communications

Rodriguez-Calero, Antonio A; Gallon, John J; Akhoundova, Dilara D; Maletti, Sina S; Ferguson, Alison A; Cyrta, Joanna J; Amstutz, Ursula U; Garofoli, Andrea A; Paradiso, Viola V; Tomlins, Scott A SA; Hewer, Ekkehard E; Genitsch, Vera V; Fleischmann, Achim A; Vassella, Erik E; Rushing, Elisabeth J EJ; Grobholz, Rainer R; Fischer, Ingeborg I; Jochum, Wolfram W; Cathomas, Gieri G; Osunkoya, Adeboye O AO; Bubendorf, Lukas L; Moch, Holger H; Thalmann, George G; Ng, Charlotte K Y CKY; Gillessen, Silke S; Piscuoglio, Salvatore S; Rubin, Mark A MA

Publication Date: 2022-05-03

Variant appearance in text: KMT2D: Arg3582Gln

PubMed Link: 35504881

Variant Present in the following documents:

• 41467_2022_30003_MOESM5_ESM.xlsx, sheet 1

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A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Cuvertino, Sara S; Hartill, Verity V; Colyer, Alice A; Garner, Terence T; Nair, Nisha N; Al-Gazali, Lihadh L; Canham, Natalie N; Faundes, Victor V; Flinter, Frances F; Hertecant, Jozef J; Holder-Espinasse, Muriel M; Jackson, Brian B; Lynch, Sally Ann SA; Nadat, Fatima F; Narasimhan, Vagheesh M VM; Peckham, Michelle M; Sellers, Robert R; Seri, Marco M; Montanari, Francesca F; Southgate, Laura L; Squeo, Gabriella Maria GM; Trembath, Richard R; van Heel, David D; Venuto, Santina S; Weisberg, Daniel D; Stals, Karen K; Ellard, Sian S; , ; Barton, Anne A; Kimber, Susan J SJ; Sheridan, Eamonn E; Merla, Giuseppe G; Stevens, Adam A; Johnson, Colin A CA; Banka, Siddharth S

Publication Date: 2020-05

Variant appearance in text: KMT2D: 10745G>A; R3582Q

PubMed Link: 31949313

Variant Present in the following documents:

• Main text
• 41436_2019_Article_743.pdf

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