Publications:

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Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Cell Reports. Medicine

Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA

Publication Date: 2023-01-17

Variant appearance in text: TCHH: L790M

PubMed Link: 36652909

Variant Present in the following documents:

• mmc3.xlsx, sheet 32

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: TCHH: L790M

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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The distinct morphological phenotypes of Southeast Asian aborigines are shaped by novel mechanisms for adaptation to tropical rainforests.

National Science Review

Zhang, Xiaoming X; Liu, Qi Q; Zhang, Hui H; Zhao, Shilei S; Huang, Jiahui J; Sovannary, Tuot T; Bunnath, Long L; Aun, Hong Seang HS; Samnom, Ham H; Su, Bing B; Chen, Hua H

Publication Date: 2022-03

Variant appearance in text: rs11803731

PubMed Link: 35371514

Variant Present in the following documents:

• Main text
• nwab072.pdf

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: TCHH: 2368T>A; L790M; rs11803731

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 2
• pone.0249324.s003.xlsx, sheet 3

View BVdb publication page

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Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data.

Bmc Genomics

Pośpiech, Ewelina E; Kukla-Bartoszek, Magdalena M; Karłowska-Pik, Joanna J; Zieliński, Piotr P; Woźniak, Anna A; Boroń, Michał M; Dąbrowski, Michał M; Zubańska, Magdalena M; Jarosz, Agata A; Grzybowski, Tomasz T; Płoski, Rafał R; Spólnicka, Magdalena M; Branicki, Wojciech W

Publication Date: 2020-08-05

Variant appearance in text: rs11803731

PubMed Link: 32758128

Variant Present in the following documents:

• 12864_2020_6926_MOESM1_ESM.pdf

View BVdb publication page

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Deimination and Peptidylarginine Deiminases in Skin Physiology and Diseases.

International Journal Of Molecular Sciences

Méchin, Marie-Claire MC; Takahara, Hidenari H; Simon, Michel M

Publication Date: 2020-01-15

Variant appearance in text: TCHH: 2368T>A; Leu790Met; rs11803731

PubMed Link: 31952341

Variant Present in the following documents:

• Main text
• ijms-21-00566.pdf

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: TCHH: L790M

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Establishment and genomic characterization of gingivobuccal carcinoma cell lines with smokeless tobacco associated genetic alterations and oncogenic PIK3CA mutation.

Scientific Reports

Pansare, Kshama K; Gardi, Nilesh N; Kamat, Sayee S; Dange, Prerana P; Previn, Rahul R; Gera, Poonam P; Kowtal, Pradnya P; Amin, Kishore K; Sarin, Rajiv R

Publication Date: 2019-06-04

Variant appearance in text: TCHH: L790M; rs11803731

PubMed Link: 31164688

Variant Present in the following documents:

• 41598_2019_44143_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Childhood cerebellar tumours mirror conserved fetal transcriptional programs.

Nature

Vladoiu, Maria C MC; El-Hamamy, Ibrahim I; Donovan, Laura K LK; Farooq, Hamza H; Holgado, Borja L BL; Sundaravadanam, Yogi Y; Ramaswamy, Vijay V; Hendrikse, Liam D LD; Kumar, Sachin S; Mack, Stephen C SC; Lee, John J Y JJY; Fong, Vernon V; Juraschka, Kyle K; Przelicki, David D; Michealraj, Antony A; Skowron, Patryk P; Luu, Betty B; Suzuki, Hiromichi H; Morrissy, A Sorana AS; Cavalli, Florence M G FMG; Garzia, Livia L; Daniels, Craig C; Wu, Xiaochong X; Qazi, Maleeha A MA; Singh, Sheila K SK; Chan, Jennifer A JA; Marra, Marco A MA; Malkin, David D; Dirks, Peter P; Heisler, Lawrence L; Pugh, Trevor T; Ng, Karen K; Notta, Faiyaz F; Thompson, Eric M EM; Kleinman, Claudia L CL; Joyner, Alexandra L AL; Jabado, Nada N; Stein, Lincoln L; Taylor, Michael D MD

Publication Date: 2019-08

Variant appearance in text: rs11803731

PubMed Link: 31043743

Variant Present in the following documents:

• NIHMS1525286-supplement-Sup_Table_7.xlsx, sheet 9

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: TCHH: L790M; rs11803731

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: TCHH: L790M; rs11803731

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Population genomics of Mesolithic Scandinavia: Investigating early postglacial migration routes and high-latitude adaptation.

Plos Biology

Günther, Torsten T; Malmström, Helena H; Svensson, Emma M EM; Omrak, Ayça A; Sánchez-Quinto, Federico F; Kılınç, Gülşah M GM; Krzewińska, Maja M; Eriksson, Gunilla G; Fraser, Magdalena M; Edlund, Hanna H; Munters, Arielle R AR; Coutinho, Alexandra A; Simões, Luciana G LG; Vicente, Mário M; Sjölander, Anders A; Jansen Sellevold, Berit B; Jørgensen, Roger R; Claes, Peter P; Shriver, Mark D MD; Valdiosera, Cristina C; Netea, Mihai G MG; Apel, Jan J; Lidén, Kerstin K; Skar, Birgitte B; Storå, Jan J; Götherström, Anders A; Jakobsson, Mattias M

Publication Date: 2018-01

Variant appearance in text: rs11803731

PubMed Link: 29315301

Variant Present in the following documents:

• pbio.2003703.s001.xlsx, sheet 1

View BVdb publication page

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Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair.

Human Molecular Genetics

Liu, Fan F; Chen, Yan Y; Zhu, Gu G; Hysi, Pirro G PG; Wu, Sijie S; Adhikari, Kaustubh K; Breslin, Krystal K; Pospiech, Ewelina E; Hamer, Merel A MA; Peng, Fuduan F; Muralidharan, Charanya C; Acuna-Alonzo, Victor V; Canizales-Quinteros, Samuel S; Bedoya, Gabriel G; Gallo, Carla C; Poletti, Giovanni G; Rothhammer, Francisco F; Bortolini, Maria Catira MC; Gonzalez-Jose, Rolando R; Zeng, Changqing C; Xu, Shuhua S; Jin, Li L; Uitterlinden, André G AG; Ikram, M Arfan MA; van Duijn, Cornelia M CM; Nijsten, Tamar T; Walsh, Susan S; Branicki, Wojciech W; Wang, Sijia S; Ruiz-Linares, Andrés A; Spector, Timothy D TD; Martin, Nicholas G NG; Medland, Sarah E SE; Kayser, Manfred M

Publication Date: 2018-02-01

Variant appearance in text: rs11803731

PubMed Link: 29220522

Variant Present in the following documents:

• Main text
• ddx416.pdf

View BVdb publication page

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A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features.

Nature Communications

Adhikari, Kaustubh K; Fontanil, Tania T; Cal, Santiago S; Mendoza-Revilla, Javier J; Fuentes-Guajardo, Macarena M; Chacón-Duque, Juan-Camilo JC; Al-Saadi, Farah F; Johansson, Jeanette A JA; Quinto-Sanchez, Mirsha M; Acuña-Alonzo, Victor V; Jaramillo, Claudia C; Arias, William W; Barquera Lozano, Rodrigo R; Macín Pérez, Gastón G; Gómez-Valdés, Jorge J; Villamil-Ramírez, Hugo H; Hunemeier, Tábita T; Ramallo, Virginia V; Silva de Cerqueira, Caio C CC; Hurtado, Malena M; Villegas, Valeria V; Granja, Vanessa V; Gallo, Carla C; Poletti, Giovanni G; Schuler-Faccini, Lavinia L; Salzano, Francisco M FM; Bortolini, Maria-Cátira MC; Canizales-Quinteros, Samuel S; Rothhammer, Francisco F; Bedoya, Gabriel G; Gonzalez-José, Rolando R; Headon, Denis D; López-Otín, Carlos C; Tobin, Desmond J DJ; Balding, David D; Ruiz-Linares, Andrés A

Publication Date: 2016-03-01

Variant appearance in text: rs11803731

PubMed Link: 26926045

Variant Present in the following documents:

• Main text
• ncomms10815-s1.pdf
• ncomms10815.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs11803731

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: TCHH: L790M; rs11803731

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2
• mmc3.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: TCHH: L790M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: TCHH: L790M; rs11803731

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: TCHH: L790M; rs11803731

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: TCHH: L790M; rs11803731

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Gradient Boosting as a SNP Filter: an Evaluation Using Simulated and Hair Morphology Data.

Journal Of Data Mining In Genomics & Proteomics

Lubke, Gh G; Laurin, C C; Walters, R R; Eriksson, N N; Hysi, P P; Spector, Td T; Montgomery, Gw G; Martin, Ng N; Medland, Se S; Boomsma, DI D

Publication Date: 2013-10-20

Variant appearance in text: rs11803731

PubMed Link: 24404405

Variant Present in the following documents:

• Main text
• nihms539433.pdf

View BVdb publication page

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Web-based, participant-driven studies yield novel genetic associations for common traits.

Plos Genetics

Eriksson, Nicholas N; Macpherson, J Michael JM; Tung, Joyce Y JY; Hon, Lawrence S LS; Naughton, Brian B; Saxonov, Serge S; Avey, Linda L; Wojcicki, Anne A; Pe'er, Itsik I; Mountain, Joanna J

Publication Date: 2010-06-24

Variant appearance in text: rs11803731

PubMed Link: 20585627

Variant Present in the following documents:

• Main text
• pgen.1000993.pdf

View BVdb publication page

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Common variants in the trichohyalin gene are associated with straight hair in Europeans.

American Journal Of Human Genetics

Medland, Sarah E SE; Nyholt, Dale R DR; Painter, Jodie N JN; McEvoy, Brian P BP; McRae, Allan F AF; Zhu, Gu G; Gordon, Scott D SD; Ferreira, Manuel A R MA; Wright, Margaret J MJ; Henders, Anjali K AK; Campbell, Megan J MJ; Duffy, David L DL; Hansell, Narelle K NK; Macgregor, Stuart S; Slutske, Wendy S WS; Heath, Andrew C AC; Montgomery, Grant W GW; Martin, Nicholas G NG

Publication Date: 2009-11

Variant appearance in text: TCHH: L790M; rs11803731

PubMed Link: 19896111

Variant Present in the following documents:

• Main text

View BVdb publication page

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