Publications:

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: DCC: G470D

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Epigenetics of functional hypothalamic amenorrhea.

Frontiers In Endocrinology

Fontana, L L; Garzia, E E; Marfia, G G; Galiano, V V; Miozzo, M M

Publication Date: 2022

Variant appearance in text: DCC: Gly470Asp

PubMed Link: 36034425

Variant Present in the following documents:

• Main text
• fendo-13-953431.pdf

View BVdb publication page

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Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea.

The Journal Of Clinical Endocrinology And Metabolism

Delaney, Angela A; Burkholder, Adam B AB; Lavender, Christopher A CA; Plummer, Lacey L; Mericq, Veronica V; Merino, Paulina M PM; Quinton, Richard R; Lewis, Katie L KL; Meader, Brooke N BN; Albano, Alessandro A; Shaw, Natalie D ND; Welt, Corrine K CK; Martin, Kathryn A KA; Seminara, Stephanie B SB; Biesecker, Leslie G LG; Bailey-Wilson, Joan E JE; Hall, Janet E JE

Publication Date: 2021-03-08

Variant appearance in text: DCC: Gly470Asp

PubMed Link: 32870266

Variant Present in the following documents:

• Main text

View BVdb publication page

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Synthetic modeling reveals HOXB genes are critical for the initiation and maintenance of human leukemia.

Nature Communications

Kusakabe, Manabu M; Sun, Ann Chong AC; Tyshchenko, Kateryna K; Wong, Rachel R; Nanda, Aastha A; Shanna, Claire C; Gusscott, Samuel S; Chavez, Elizabeth A EA; Lorzadeh, Alireza A; Zhu, Alice A; Hill, Ainsleigh A; Hung, Stacy S; Brown, Scott S; Babaian, Artem A; Wang, Xuehai X; Holt, Robert A RA; Steidl, Christian C; Karsan, Aly A; Humphries, R Keith RK; Eaves, Connie J CJ; Hirst, Martin M; Weng, Andrew P AP

Publication Date: 2019-07-02

Variant appearance in text: DCC: 1409G>A; Gly470Asp; rs141813053

PubMed Link: 31266935

Variant Present in the following documents:

• 41467_2019_10510_MOESM8_ESM.xlsx, sheet 2
• 41467_2019_10510_MOESM8_ESM.xlsx, sheet 3
• 41467_2019_10510_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Subependymal giant cell astrocytoma-like astrocytoma: a neoplasm with a distinct phenotype and frequent neurofibromatosis type-1-association.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Palsgrove, Doreen N DN; Brosnan-Cashman, Jacqueline A JA; Giannini, Caterina C; Raghunathan, Aditya A; Jentoft, Mark M; Bettegowda, Chetan C; Gokden, Murat M; Lin, Doris D; Yuan, Ming M; Lin, Ming-Tseh MT; Heaphy, Christopher M CM; Rodriguez, Fausto J FJ

Publication Date: 2018-12

Variant appearance in text: DCC: G470D; rs141813053

PubMed Link: 29973652

Variant Present in the following documents:

• NIHMS972465-supplement-2.xlsx, sheet 1
• NIHMS972465-supplement-1.xlsx, sheet 3

View BVdb publication page

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The landscape of somatic mutation in sporadic Chinese colorectal cancer.

Oncotarget

Liu, Zhe Z; Yang, Chao C; Li, Xiangchun X; Luo, Wen W; Roy, Bhaskar B; Xiong, Teng T; Zhang, Xiuqing X; Yang, Huanming H; Wang, Jian J; Ye, Zhenhao Z; Chen, Yang Y; Song, Jinghe J; Ma, Shuai S; Zhou, Yong Y; Yang, Min M; Fang, Xiaodong X; Du, Jie J

Publication Date: 2018-06-08

Variant appearance in text: DCC: 1409G>A

PubMed Link: 29937994

Variant Present in the following documents:

• oncotarget-09-27412-s004.xlsx, sheet 1

View BVdb publication page

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DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

Human Mutation

Marsh, Ashley P L APL; Edwards, Timothy J TJ; Galea, Charles C; Cooper, Helen M HM; Engle, Elizabeth C EC; Jamuar, Saumya S SS; Méneret, Aurélie A; Moutard, Marie-Laure ML; Nava, Caroline C; Rastetter, Agnès A; Robinson, Gail G; Rouleau, Guy G; Roze, Emmanuel E; Spencer-Smith, Megan M; Trouillard, Oriane O; Billette de Villemeur, Thierry T; Walsh, Christopher A CA; Yu, Timothy W TW; , ; Heron, Delphine D; Sherr, Elliott H EH; Richards, Linda J LJ; Depienne, Christel C; Leventer, Richard J RJ; Lockhart, Paul J PJ

Publication Date: 2018-01

Variant appearance in text: DCC: 1409G>A; Gly470Asp; rs141813053

PubMed Link: 29068161

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.

Neurobiology Of Aging

Lubbe, S J SJ; Escott-Price, V V; Brice, A A; Gasser, T T; Pittman, A M AM; Bras, J J; Hardy, J J; Heutink, P P; Wood, N M NM; Singleton, A B AB; Grosset, D G DG; Carroll, C B CB; Law, M H MH; Demenais, F F; Iles, M M MM; , ; Bishop, D T DT; Newton-Bishop, J J; Williams, N M NM; Morris, H R HR; ,

Publication Date: 2016-12

Variant appearance in text: DCC: G470D

PubMed Link: 27640074

Variant Present in the following documents:

• mmc2.xlsx, sheet 5
• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 6

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: DCC: 1409G>A; G470D; rs141813053

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases.

Neurology

Méneret, Aurélie A; Depienne, Christel C; Riant, Florence F; Trouillard, Oriane O; Bouteiller, Delphine D; Cincotta, Massimo M; Bitoun, Pierre P; Wickert, Julia J; Lagroua, Isabelle I; Westenberger, Ana A; Borgheresi, Alessandra A; Doummar, Diane D; Romano, Marcello M; Rossi, Simone S; Defebvre, Luc L; De Meirleir, Linda L; Espay, Alberto J AJ; Fiori, Simona S; Klebe, Stephan S; Quélin, Chloé C; Rudnik-Schöneborn, Sabine S; Plessis, Ghislaine G; Dale, Russell C RC; Sklower Brooks, Susan S; Dziezyc, Karolina K; Pollak, Pierre P; Golmard, Jean-Louis JL; Vidailhet, Marie M; Brice, Alexis A; Roze, Emmanuel E

Publication Date: 2014-06-03

Variant appearance in text: DCC: 1409G>A; Gly470Asp

PubMed Link: 24808016

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: rs141813053

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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