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: NF1: L234L

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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Detection and targeting of splicing deregulation in pediatric acute myeloid leukemia stem cells.

Cell Reports. Medicine

van der Werf, Inge I; Mondala, Phoebe K PK; Steel, S Kathleen SK; Balaian, Larisa L; Ladel, Luisa L; Mason, Cayla N CN; Diep, Raymond H RH; Pham, Jessica J; Cloos, Jacqueline J; Kaspers, Gertjan J L GJL; Chan, Warren C WC; Mark, Adam A; La Clair, James J JJ; Wentworth, Peggy P; Fisch, Kathleen M KM; Crews, Leslie A LA; Whisenant, Thomas C TC; Burkart, Michael D MD; Donohoe, Mary E ME; Jamieson, Catriona H M CHM

Publication Date: 2023-03-02

Variant appearance in text: NF1: L234=

PubMed Link: 36889320

Variant Present in the following documents:

• mmc4.pdf
• main.pdf

View BVdb publication page

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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: N/A

PubMed Link: 36467812

Variant Present in the following documents:

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: NF1: L234L

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: N/A

PubMed Link: 36075891

Variant Present in the following documents:

View BVdb publication page

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Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Plos One

Ueda, Atsushi A; Osawa, Motoki M; Naito, Haruaki H; Ochiai, Eriko E; Kakimoto, Yu Y

Publication Date: 2022

Variant appearance in text: NF1: Leu234=; rs1801052

PubMed Link: 35486589

Variant Present in the following documents:

• pone.0267751.s001.xls, sheet 1

View BVdb publication page

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Mutated RAS-associating proteins and ERK activation in relapse/refractory diffuse large B cell lymphoma.

Scientific Reports

Benoit, Alexandre A; Bou-Petit, Elisabeth E; Chou, Hsiang H; Lu, Melissa M; Guilbert, Cynthia C; Luo, Vincent Mingyi VM; Assouline, Sarit S; Morin, Ryan D RD; Dmitrienko, Svetlana S; Estrada-Tejedor, Roger R; Johnson, Nathalie A NA; Mann, Koren K KK

Publication Date: 2022-01-17

Variant appearance in text: NF1: L234L

PubMed Link: 35039569

Variant Present in the following documents:

• Main text
• 41598_2021_Article_4736.pdf
• 41598_2021_4736_MOESM1_ESM.pdf

View BVdb publication page

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Mutated RAS-associating proteins and ERK activation in relapse/refractory diffuse large B cell lymphoma.

Scientific Reports

Benoit, Alexandre A; Bou-Petit, Elisabeth E; Chou, Hsiang H; Lu, Melissa M; Guilbert, Cynthia C; Luo, Vincent Mingyi VM; Assouline, Sarit S; Morin, Ryan D RD; Dmitrienko, Svetlana S; Estrada-Tejedor, Roger R; Johnson, Nathalie A NA; Mann, Koren K KK

Publication Date: 2022-01-17

Variant appearance in text: NF1: L234L

PubMed Link: 35039569

Variant Present in the following documents:

• Main text
• 41598_2021_Article_4736.pdf
• 41598_2021_4736_MOESM1_ESM.pdf

View BVdb publication page

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First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Bmc Medical Genomics

Fu, Weijia W; Huang, Aijie A; Cheng, Hui H; Luo, Yanrong Y; Gao, Lei L; Tang, Gusheng G; Yang, Jianmin J; Wang, Jianmin J; Ni, Xiong X

Publication Date: 2021-05-17

Variant appearance in text: N/A

PubMed Link: 34001105

Variant Present in the following documents:

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: N/A

PubMed Link: 33791233

Variant Present in the following documents:

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: N/A

PubMed Link: 33478437

Variant Present in the following documents:

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: NF1: L234L; rs1801052

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: N/A

PubMed Link: 32529721

Variant Present in the following documents:

View BVdb publication page

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Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?

European Journal Of Human Genetics : Ejhg

Ferrari, Luca L; Mangano, Eleonora E; Bonati, Maria Teresa MT; Monterosso, Ilaria I; Capitanio, Daniele D; Chiappori, Federica F; Brambilla, Ilaria I; Gelfi, Cecilia C; Battaglia, Cristina C; Bordoni, Roberta R; Riva, Paola P

Publication Date: 2020-10

Variant appearance in text: N/A

PubMed Link: 32514133

Variant Present in the following documents:

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs1801052

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: N/A

PubMed Link: 32277576

Variant Present in the following documents:

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: NF1: Leu234=; rs1801052

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: N/A

PubMed Link: 31597922

Variant Present in the following documents:

View BVdb publication page

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Clinical characteristics and mutation Spectrum of NF1 in 12 Chinese families with orbital/periorbital plexiform Neurofibromatosis type 1.

Bmc Medical Genetics

Chai, Peiwei P; Luo, Yingxiu Y; Zhou, Chuandi C; Wang, Yefei Y; Fan, Xianqun X; Jia, Renbing R

Publication Date: 2019-09-18

Variant appearance in text: N/A

PubMed Link: 31533651

Variant Present in the following documents:

View BVdb publication page

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Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications

Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C

Publication Date: 2019-08-30

Variant appearance in text: N/A

PubMed Link: 31470906

Variant Present in the following documents:

View BVdb publication page

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Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family.

Plos One

Shoji, Tetsuaki T; Konno, Satoshi S; Niida, Yo Y; Ogi, Takahiro T; Suzuki, Masaru M; Shimizu, Kaoruko K; Hida, Yasuhiro Y; Kaga, Kichizo K; Seyama, Kuniaki K; Naka, Tomoaki T; Matsuno, Yoshihiro Y; Nishimura, Masaharu M

Publication Date: 2019

Variant appearance in text: N/A

PubMed Link: 30794603

Variant Present in the following documents:

View BVdb publication page

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Specific V-ATPase expression sub-classifies IDHwt lower-grade gliomas and impacts glioma growth in vivo.

Ebiomedicine

Terrasi, Andrea A; Bertolini, Irene I; Martelli, Cristina C; Gaudioso, Gabriella G; Di Cristofori, Andrea A; Storaci, Alessandra Maria AM; Formica, Miriam M; Bosari, Silvano S; Caroli, Manuela M; Ottobrini, Luisa L; Vaccari, Thomas T; Vaira, Valentina V

Publication Date: 2019-03

Variant appearance in text: N/A

PubMed Link: 30737087

Variant Present in the following documents:

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: rs1801052

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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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs1801052

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications

Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M

Publication Date: 2018-10-04

Variant appearance in text: NF1: Leu234Leu; rs1801052

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
• 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.

Molecular Genetics & Genomic Medicine

Kopp, Nathan D ND; Parrish, Phoebe C R PCR; Lugo, Michael M; Dougherty, Joseph D JD; Kozel, Beth A BA

Publication Date: 2018-09

Variant appearance in text: N/A

PubMed Link: 30008175

Variant Present in the following documents:

View BVdb publication page

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Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Plos One

Soukupova, Jana J; Zemankova, Petra P; Lhotova, Klara K; Janatova, Marketa M; Borecka, Marianna M; Stolarova, Lenka L; Lhota, Filip F; Foretova, Lenka L; Machackova, Eva E; Stranecky, Viktor V; Tavandzis, Spiros S; Kleiblova, Petra P; Vocka, Michal M; Hartmannova, Hana H; Hodanova, Katerina K; Kmoch, Stanislav S; Kleibl, Zdenek Z

Publication Date: 2018

Variant appearance in text: NF1: L234L

PubMed Link: 29649263

Variant Present in the following documents:

• pone.0195761.s005.xlsx, sheet 1
• pone.0195761.s003.xlsx, sheet 1
• pone.0195761.s004.xlsx, sheet 1

View BVdb publication page

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Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.

Cold Spring Harbor Molecular Case Studies

Suarez-Kelly, Lorena P LP; Akagi, Keiko K; Reeser, Julie W JW; Samorodnitsky, Eric E; Reeder, Matthew M; Smith, Amy A; Roychowdhury, Sameek S; Symer, David E DE; Carson, William E WE

Publication Date: 2018-04

Variant appearance in text: NF1: Leu234=; rs1801052

PubMed Link: 29449315

Variant Present in the following documents:

• supp_mcs.a002352_Supplemental_Table_3.xls, sheet 1

View BVdb publication page

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Development of a targeted sequencing approach to identify prognostic, predictive and diagnostic markers in paediatric solid tumours.

Oncotarget

Izquierdo, Elisa E; Yuan, Lina L; George, Sally S; Hubank, Michael M; Jones, Chris C; Proszek, Paula P; Shipley, Janet J; Gatz, Susanne A SA; Stinson, Caedyn C; Moore, Andrew S AS; Clifford, Steven C SC; Hicks, Debbie D; Lindsey, Janet C JC; Hill, Rebecca M RM; Jacques, Thomas S TS; Chalker, Jane J; Thway, Khin K; O'Connor, Simon S; Marshall, Lynley L; Moreno, Lucas L; Pearson, Andrew A; Chesler, Louis L; Walker, Brian A BA; De Castro, David Gonzalez DG

Publication Date: 2017-12-19

Variant appearance in text: N/A

PubMed Link: 29340109

Variant Present in the following documents:

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: N/A

PubMed Link: 29221171

Variant Present in the following documents:

View BVdb publication page

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Sequencing and phasing cancer mutations in lung cancers using a long-read portable sequencer.

Dna Research : An International Journal For Rapid Publication Of Reports On Genes And Genomes

Suzuki, Ayako A; Suzuki, Mizuto M; Mizushima-Sugano, Junko J; Frith, Martin C MC; Makalowski, Wojciech W; Kohno, Takashi T; Sugano, Sumio S; Tsuchihara, Katsuya K; Suzuki, Yutaka Y

Publication Date: 2017-12-01

Variant appearance in text: NF1: L234L

PubMed Link: 29117310

Variant Present in the following documents:

• supplementary_data_dsx027.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs1801052

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: N/A

PubMed Link: 28535796

Variant Present in the following documents:

View BVdb publication page

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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: N/A

PubMed Link: 27456059

Variant Present in the following documents:

View BVdb publication page

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IGF1R as a Key Target in High Risk, Metastatic Medulloblastoma.

Scientific Reports

Svalina, Matthew N MN; Kikuchi, Ken K; Abraham, Jinu J; Lal, Sangeet S; Davare, Monika A MA; Settelmeyer, Teagan P TP; Young, Michael C MC; Peckham, Jennifer L JL; Cho, Yoon-Jae YJ; Michalek, Joel E JE; Hernandez, Brian S BS; Berlow, Noah E NE; Jackson, Melanie M; Guillaume, Daniel J DJ; Selden, Nathan R NR; Bigner, Darell D DD; Nazemi, Kellie J KJ; Green, Sarah C SC; Corless, Christopher L CL; Gultekin, Sakir S; Mansoor, Atiya A; Rubin, Brian P BP; Woltjer, Randall R; Keller, Charles C

Publication Date: 2016-06-03

Variant appearance in text: N/A

PubMed Link: 27255663

Variant Present in the following documents:

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: N/A

PubMed Link: 26549847

Variant Present in the following documents:

View BVdb publication page

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Distinct molecular abnormalities underlie unique clinical features of essential thrombocythemia in children.

Leukemia

Fu, R R; Liu, D D; Cao, Z Z; Zhu, S S; Li, H H; Su, H H; Zhang, L L; Xue, F F; Liu, X X; Zhang, X X; Cheng, T T; Yang, R R; Zhang, L L

Publication Date: 2016-03

Variant appearance in text: NF1: L234L; rs1801052

PubMed Link: 26118316

Variant Present in the following documents:

• leu2015167x1.pdf

View BVdb publication page

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

,

Publication Date: 2015-06-26

Variant appearance in text: NF1: L234L; rs1801052

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: N/A

PubMed Link: 25944692

Variant Present in the following documents:

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: N/A

PubMed Link: 25496518

Variant Present in the following documents:

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: N/A

PubMed Link: 25390934

Variant Present in the following documents:

View BVdb publication page

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TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Plos One

Ogata, Tsutomu T; Niihori, Tetsuya T; Tanaka, Noriko N; Kawai, Masahiko M; Nagashima, Takeshi T; Funayama, Ryo R; Nakayama, Keiko K; Nakashima, Shinichi S; Kato, Fumiko F; Fukami, Maki M; Aoki, Yoko Y; Matsubara, Yoichi Y

Publication Date: 2014

Variant appearance in text: rs1801052

PubMed Link: 24637876

Variant Present in the following documents:

• pone.0091598.s006.pdf

View BVdb publication page

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: NF1: L234L; rs1801052

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

View BVdb publication page

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Long segmental hyperplasia of interstitial cells of Cajal with giant diverticulum formation.

International Journal Of Clinical And Experimental Pathology

Xue, Liyan L; Qiu, Tian T; Song, Ying Y; Shan, Ling L; Liu, Xiuyun X; Guo, Lei L; Ying, Jianming J; Zou, Shuangmei S; Shi, Susheng S; Polydorides, Alexandros D AD; Zhao, Xinming X; Lu, Ning N; Lin, Dongmei D

Publication Date: 2013

Variant appearance in text: NF1: L234L; rs1801052

PubMed Link: 24294389

Variant Present in the following documents:

• Main text

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: N/A

PubMed Link: 24219164

Variant Present in the following documents:

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A highly sensitive genetic protocol to detect NF1 mutations.

The Journal Of Molecular Diagnostics : Jmd

Valero, María Carmen MC; Martín, Yolanda Y; Hernández-Imaz, Elisabete E; Marina Hernández, Alba A; Meleán, Germán G; Valero, Ana María AM; Javier Rodríguez-Álvarez, Francisco F; Tellería, Dolores D; Hernández-Chico, Concepción C

Publication Date: 2011-03

Variant appearance in text: rs1801052

PubMed Link: 21354044

Variant Present in the following documents:

• Main text

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Experiences with array-based sequence capture; toward clinical applications.

European Journal Of Human Genetics : Ejhg

Almomani, Rowida R; van der Heijden, Jaap J; Ariyurek, Yavuz Y; Lai, Yuching Y; Bakker, Egbert E; van Galen, Michiel M; Breuning, Martijn H MH; den Dunnen, Johan T JT

Publication Date: 2011-01

Variant appearance in text: rs1801052

PubMed Link: 21102627

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Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics

Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W

Publication Date: 2008-06-11

Variant appearance in text: rs1801052

PubMed Link: 18547414

Variant Present in the following documents:

• 1755-8794-1-24-S1.xls, sheet 1

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Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.

American Journal Of Human Genetics

Maertens, Ophélia O; De Schepper, Sofie S; Vandesompele, Jo J; Brems, Hilde H; Heyns, Ine I; Janssens, Sandra S; Speleman, Frank F; Legius, Eric E; Messiaen, Ludwine L

Publication Date: 2007-08

Variant appearance in text: rs1801052

PubMed Link: 17668375

Variant Present in the following documents:

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