Publications:

---

A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum.

Bmc Medical Genomics

Ajam-Hosseini, Mobarakeh M; Parvini, Farshid F; Angaji, Abdolhamid A

Publication Date: 2023-02-24

Variant appearance in text: rs45456595

PubMed Link: 36829172

Variant Present in the following documents:

• 12920_2023_1467_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs45456595

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

---

Pediatric chordoma associated with tuberous sclerosis complex: A rare case report with a thorough analysis of potential therapeutic molecular targets.

Heliyon

Anoshkin, Kirill K; Zosen, Denis D; Karandasheva, Kristina K; Untesco, Maxim M; Volodin, Ilya I; Alekseeva, Ekaterina E; Parfenenkova, Anna A; Snegova, Eugenia E; Kim, Aleksandr A; Dorofeeva, Marina M; Kutsev, Sergei S; Strelnikov, Vladimir V

Publication Date: 2022-08

Variant appearance in text: rs45456595

PubMed Link: 36051260

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

---

The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.

Nature Communications

Michaud, Vincent V; Lasseaux, Eulalie E; Green, David J DJ; Gerrard, Dave T DT; Plaisant, Claudio C; , ; Fitzgerald, Tomas T; Birney, Ewan E; Arveiler, Benoît B; Black, Graeme C GC; Sergouniotis, Panagiotis I PI

Publication Date: 2022-07-08

Variant appearance in text: CDKN2A: 150+37G>C; rs45456595

PubMed Link: 35803923

Variant Present in the following documents:

• 41467_2022_31392_MOESM1_ESM.pdf

View BVdb publication page

---

Defining novel causal SNPs and linked phenotypes at melanoma-associated loci.

Human Molecular Genetics

Castaneda-Garcia, Carolina C; Iyer, Vivek V; Nsengimana, Jérémie J; Trower, Adam A; Droop, Alastair A; Brown, Kevin M KM; Choi, Jiyeon J; Zhang, Tongwu T; Harland, Mark M; Newton-Bishop, Julia A JA; Bishop, D Timothy DT; Adams, David J DJ; Iles, Mark M MM; Robles-Espinoza, Carla Daniela CD

Publication Date: 2022-08-25

Variant appearance in text: rs45456595

PubMed Link: 35357426

Variant Present in the following documents:

• supplementary_table_5_ddac074.xlsx, sheet 1

View BVdb publication page

---

The LOVD3 platform: efficient genome-wide sharing of genetic variants.

European Journal Of Human Genetics : Ejhg

Fokkema, Ivo F A C IFAC; Kroon, Mark M; López Hernández, Julia A JA; Asscheman, Daan D; Lugtenburg, Ivar I; Hoogenboom, Jerry J; den Dunnen, Johan T JT

Publication Date: 2021-12

Variant appearance in text: CDKN2A: 150+37G>C

PubMed Link: 34521998

Variant Present in the following documents:

• 41431_2021_959_MOESM3_ESM.pdf

View BVdb publication page

---

The functional role of inherited CDKN2A variants in childhood acute lymphoblastic leukemia.

Pharmacogenetics And Genomics

Li, Chunjie C; Zhao, Xinying X; He, Yingyi Y; Li, Ziping Z; Qian, Jiabi J; Zhang, Li L; Ye, Qian Q; Qiu, Fei F; Lian, Peng P; Qian, Maoxiang M; Zhang, Hui H

Publication Date: 2022-02-01

Variant appearance in text: rs45456595

PubMed Link: 34369425

Variant Present in the following documents:

• pgen-32-43-s001.pdf

View BVdb publication page

---

The functional role of inherited CDKN2A variants in childhood acute lymphoblastic leukemia.

Pharmacogenetics And Genomics

Li, Chunjie C; Zhao, Xinying X; He, Yingyi Y; Li, Ziping Z; Qian, Jiabi J; Zhang, Li L; Ye, Qian Q; Qiu, Fei F; Lian, Peng P; Qian, Maoxiang M; Zhang, Hui H

Publication Date: 2021-08-06

Variant appearance in text: rs45456595

PubMed Link: 34369425

Variant Present in the following documents:

• pgen-32-43-s001.pdf

View BVdb publication page

---

Quality assessment of a clinical next-generation sequencing melanoma panel within the Italian Melanoma Intergroup (IMI).

Diagnostic Pathology

Vanni, Irene I; Casula, Milena M; Pastorino, Lorenza L; Manca, Antonella A; Dalmasso, Bruna B; Andreotti, Virginia V; Pisano, Marina M; Colombino, Maria M; , ; Pfeffer, Ulrich U; Tanda, Enrica Teresa ET; Rozzo, Carla C; Paliogiannis, Panagiotis P; Cossu, Antonio A; Ghiorzo, Paola P; Palmieri, Giuseppe G; ,

Publication Date: 2020-12-14

Variant appearance in text: rs45456595

PubMed Link: 33317587

Variant Present in the following documents:

• 13000_2020_1052_MOESM5_ESM.xlsx, sheet 1
• 13000_2020_1052_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics

Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U

Publication Date: 2020-07

Variant appearance in text: CDKN2A: 150+37G>C; rs45456595

PubMed Link: 32424350

Variant Present in the following documents:

• NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7

View BVdb publication page

---

Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation

Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS

Publication Date: 2020-04-01

Variant appearance in text: rs45456595

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

View BVdb publication page

---

Exome analysis of carotid body tumor.

Bmc Medical Genomics

Snezhkina, Anastasiya V AV; Lukyanova, Elena N EN; Kalinin, Dmitry V DV; Pokrovsky, Anatoly V AV; Dmitriev, Alexey A AA; Koroban, Nadezhda V NV; Pudova, Elena A EA; Fedorova, Maria S MS; Volchenko, Nadezhda N NN; Stepanov, Oleg A OA; Zhevelyuk, Ekaterina A EA; Kharitonov, Sergey L SL; Lipatova, Anastasiya V AV; Abramov, Ivan S IS; Golovyuk, Alexander V AV; Yegorov, Yegor E YE; Vishnyakova, Khava S KS; Moskalev, Alexey A AA; Krasnov, George S GS; Melnikova, Nataliya V NV; Shcherbo, Dmitry S DS; Kiseleva, Marina V MV; Kaprin, Andrey D AD; Alekseev, Boris Y BY; Zaretsky, Andrew R AR; Kudryavtseva, Anna V AV

Publication Date: 2018-02-13

Variant appearance in text: rs45456595

PubMed Link: 29504908

Variant Present in the following documents:

• Main text
• 12920_2018_Article_327.pdf
• 12920_2018_327_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

Molecular Genetics & Genomic Medicine

DeRycke, Melissa S MS; Gunawardena, Shanaka S; Balcom, Jessica R JR; Pickart, Angela M AM; Waltman, Lindsey A LA; French, Amy J AJ; McDonnell, Shannon S; Riska, Shaun M SM; Fogarty, Zachary C ZC; Larson, Melissa C MC; Middha, Sumit S; Eckloff, Bruce W BW; Asmann, Yan W YW; Ferber, Matthew J MJ; Haile, Robert W RW; Gallinger, Steven S; Clendenning, Mark M; Rosty, Christophe C; Win, Aung K AK; Buchanan, Daniel D DD; Hopper, John L JL; Newcomb, Polly A PA; Le Marchand, Loic L; Goode, Ellen L EL; Lindor, Noralane M NM; Thibodeau, Stephen N SN

Publication Date: 2017-09

Variant appearance in text: rs45456595

PubMed Link: 28944238

Variant Present in the following documents:

• MGG3-5-553-s002.xlsx, sheet 4

View BVdb publication page

---

Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: CDKN2A: 150+37G>C

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.

Plos One

He, Karen Y KY; Zhao, Yiqing Y; McPherson, Elizabeth W EW; Li, Quan Q; Xia, Fan F; Weng, Chunhua C; Wang, Kai K; He, Max M MM

Publication Date: 2016

Variant appearance in text: rs45456595

PubMed Link: 27930734

Variant Present in the following documents:

• pone.0167847.s002.xls, sheet 1

View BVdb publication page

---

Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs45456595

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

---

Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom.

Hereditary Cancer In Clinical Practice

Harland, Mark M; Cust, Anne E AE; Badenas, Celia C; Chang, Yu-Mei YM; Holland, Elizabeth A EA; Aguilera, Paula P; Aitken, Joanne F JF; Armstrong, Bruce K BK; Barrett, Jennifer H JH; Carrera, Cristina C; Chan, May M; Gascoyne, Joanne J; Giles, Graham G GG; Agha-Hamilton, Chantelle C; Hopper, John L JL; Jenkins, Mark A MA; Kanetsky, Peter A PA; Kefford, Richard F RF; Kolm, Isabel I; Lowery, Johanna J; Malvehy, Josep J; Ogbah, Zighereda Z; Puig-Butille, Joan-Anton JA; Orihuela-Segalés, Jordi J; Randerson-Moor, Juliette A JA; Schmid, Helen H; Taylor, Claire F CF; Whitaker, Linda L; Bishop, D Timothy DT; Mann, Graham J GJ; Newton-Bishop, Julia A JA; Puig, Susana S

Publication Date: 2014

Variant appearance in text: CDKN2A: 150+37G>C

PubMed Link: 25780468

Variant Present in the following documents:

• 13053_2014_472_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: rs45456595

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

---

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: rs45456595

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

---

Analysis of common and coding variants with cardiovascular disease in the Diabetes Heart Study.

Cardiovascular Diabetology

Adams, Jeremy N JN; Raffield, Laura M LM; Freedman, Barry I BI; Langefeld, Carl D CD; Ng, Maggie C Y MC; Carr, J Jeffrey JJ; Cox, Amanda J AJ; Bowden, Donald W DW

Publication Date: 2014-04-12

Variant appearance in text: rs45456595

PubMed Link: 24725463

Variant Present in the following documents:

• Main text
• 1475-2840-13-77.pdf
• 1475-2840-13-77-S1.xls, sheet 1

View BVdb publication page

---