Publications:

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Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2.

Frontiers In Endocrinology

Vado, Yerai Y; Pereda, Arrate A; Manero-Azua, Africa A; , ; Perez de Nanclares, Guiomar G

Publication Date: 2022

Variant appearance in text: rs7121

PubMed Link: 36686455

Variant Present in the following documents:

• Main text
• fendo-13-1055431.pdf

View BVdb publication page

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Prevalence of Chiari malformation type 1 is increased in pseudohypoparathyroidism type 1A and associated with aberrant bone development.

Plos One

Krishnan, Neetu N; McMullan, Patrick P; Yang, Qingfen Q; Buscarello, Alexzandrea N AN; Germain-Lee, Emily L EL

Publication Date: 2023

Variant appearance in text: GNAS: 393C>T; Ile131Ile

PubMed Link: 36662765

Variant Present in the following documents:

• Main text
• pone.0280463.pdf

View BVdb publication page

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The Role of Single-Nucleotide Polymorphisms in Cholangiocarcinoma: A Systematic Review.

Cancers

Wang, Guanwu G; Heij, Lara Rosaline LR; Liu, Dong D; Dahl, Edgar E; Lang, Sven Arke SA; Ulmer, Tom Florian TF; Luedde, Tom T; Neumann, Ulf Peter UP; Bednarsch, Jan J

Publication Date: 2022-12-02

Variant appearance in text: rs7121

PubMed Link: 36497451

Variant Present in the following documents:

• Main text
• cancers-14-05969.pdf

View BVdb publication page

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CC Genotype of GNAS c.393C>T (rs7121) Polymorphism Has a Protective Effect against Development of BK Viremia and BKV-Associated Nephropathy after Renal Transplant.

Pathogens (Basel, Switzerland)

Peitz, Tobias T; Möhlendick, Birte B; Eisenberger, Ute U; Siffert, Winfried W; Heinemann, Falko Markus FM; Kribben, Andreas A; Friebus-Kardash, Justa J

Publication Date: 2022-10-01

Variant appearance in text: GNAS: 393C>T; rs7121

PubMed Link: 36297195

Variant Present in the following documents:

• Main text
• pathogens-11-01138.pdf

View BVdb publication page

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

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

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: rs7121

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

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: rs7121

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_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: rs7121

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: rs7121

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Associations of GNAS and RGS Gene Polymorphisms with the Risk of Ritodrine-Induced Adverse Events in Korean Women with Preterm Labor: A Cohort Study.

Pharmaceutics

Jang, Eun-Jeong EJ; Kim, Young-Ju YJ; Hwang, Han-Sung HS; Yee, Jeong J; Gwak, Hye-Sun HS

Publication Date: 2022-06-08

Variant appearance in text: rs7121

PubMed Link: 35745791

Variant Present in the following documents:

• Main text
• pharmaceutics-14-01220.pdf

View BVdb publication page

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Lack of Effects of Renin-Angiotensin-Aldosterone System Activity and Beta-Adrenoceptor Pathway Polymorphisms on the Response to Bisoprolol in Hypertension.

Frontiers In Cardiovascular Medicine

Zeng, Weiwei W; Chu, Tanya T W TTW; Ho, Chung Shun CS; Lo, Clara W S CWS; Chan, Alan S L ASL; Kong, Alice P S APS; Tomlinson, Brian B; Chan, Sze Wa SW

Publication Date: 2022

Variant appearance in text: GNAS: 393C>T; rs7121

PubMed Link: 35433877

Variant Present in the following documents:

• Main text
• fcvm-09-842875.pdf

View BVdb publication page

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Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology

Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S

Publication Date: 2022-03-05

Variant appearance in text: GNAS: 393C>T; Ile131=; rs7121

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Towards Understanding the Genetic Nature of Vasovagal Syncope.

International Journal Of Molecular Sciences

Matveeva, Natalia N; Titov, Boris B; Bazyleva, Elizabeth E; Pevzner, Alexander A; Favorova, Olga O

Publication Date: 2021-09-24

Variant appearance in text: rs7121

PubMed Link: 34638656

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gene polymorphisms of insulin secretion signaling pathway associated with clopidogrel resistance in Han Chinese population.

Journal Of Clinical Laboratory Analysis

Zhong, Jinyan J; Yu, Qinglin Q; Zheng, Nan N; Su, Jia J; Zheng, Xiaowei X; Zheng, Liangrong L; Chen, Xiaomin X

Publication Date: 2021-11

Variant appearance in text: rs7121

PubMed Link: 34609028

Variant Present in the following documents:

• Main text
• JCLA-35-e23970.pdf

View BVdb publication page

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Somatotroph Tumors and the Epigenetic Status of the GNAS Locus.

International Journal Of Molecular Sciences

Romanet, Pauline P; Galluso, Justine J; Kamenicky, Peter P; Hage, Mirella M; Theodoropoulou, Marily M; Roche, Catherine C; Graillon, Thomas T; Etchevers, Heather C HC; De Murat, Daniel D; Mougel, Grégory G; Figarella-Branger, Dominique D; Dufour, Henry H; Cuny, Thomas T; Assié, Guillaume G; Barlier, Anne A

Publication Date: 2021-07-15

Variant appearance in text: GNAS: 393C>T; Ile131Ile; rs7121

PubMed Link: 34299200

Variant Present in the following documents:

• Main text
• ijms-22-07570.pdf

View BVdb publication page

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Maternal GNAS Contributes to the Extra-Large G Protein α-Subunit (XLαs) Expression in a Cell Type-Specific Manner.

Frontiers In Genetics

Cui, Quixia Q; Aksu, Cagri C; Ay, Birol B; Remillard, Claire E CE; Plagge, Antonius A; Gardezi, Mina M; Dunlap, Margaret M; Gerstenfeld, Louis C LC; He, Qing Q; Bastepe, Murat M

Publication Date: 2021

Variant appearance in text: rs7121

PubMed Link: 34220953

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Gain-of-Function p53 R248W Mutant Promotes Migration by STAT3 Deregulation in Human Pancreatic Cancer Cells.

Frontiers In Oncology

Klemke, Luisa L; Fehlau, Clara F CF; Winkler, Nadine N; Toboll, Felicia F; Singh, Shiv K SK; Moll, Ute M UM; Schulz-Heddergott, Ramona R

Publication Date: 2021

Variant appearance in text: GNAS: 393C>T; Ile131=; rs7121

PubMed Link: 34178628

Variant Present in the following documents:

• DataSheet_1.pdf

View BVdb publication page

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The Application of Nucleic Acid Probe-Based Fluorescent Sensing and Imaging in Cancer Diagnosis and Therapy.

Frontiers In Chemistry

Huang, Ge G; Su, Chen C; Wang, Lijuan L; Fei, Yanxia Y; Yang, Jinfeng J

Publication Date: 2021

Variant appearance in text: GNAS: 393C>T

PubMed Link: 34141699

Variant Present in the following documents:

• fchem-09-705458.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: GNAS: 393C>T; I131I; rs7121

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: GNAS: I131I; rs7121

PubMed Link: 34001105

Variant Present in the following documents:

• 12920_2021_979_MOESM2_ESM.xlsx, sheet 1

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: rs7121

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: GNAS: I131I; rs7121

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

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: rs7121

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: GNAS: 393C>T; Ile131=

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

View BVdb publication page

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Selected neuropeptide genes show genetic differentiation between Africans and non-Africans.

Bmc Genetics

Tai, Kah Yee KY; Wong, KokSheik K; Aghakhanian, Farhang F; Parhar, Ishwar S IS; Dhaliwal, Jasbir J; Ayub, Qasim Q

Publication Date: 2020-03-14

Variant appearance in text: rs7121

PubMed Link: 32171244

Variant Present in the following documents:

• Main text
• 12863_2020_Article_835.pdf

View BVdb publication page

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Genome landscapes of rectal cancer before and after preoperative chemoradiotherapy.

Theranostics

Yang, Jie J; Lin, Yuan Y; Huang, Ying Y; Jin, Jing J; Zou, Shuangmei S; Zhang, Xiaolong X; Li, Hongmin H; Feng, Ting T; Chen, Jinna J; Zuo, Zhixiang Z; Zheng, Jian J; Li, Yexiong Y; Gao, Ge G; Wu, Chen C; Tan, Wen W; Lin, Dongxin D

Publication Date: 2019

Variant appearance in text: GNAS: I131I

PubMed Link: 31660073

Variant Present in the following documents:

• thnov09p6856s2.xlsx, sheet 7

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: rs7121

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: GNAS: I131I; rs7121

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

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: GNAS: I131I; rs7121

PubMed Link: 31470906

Variant Present in the following documents:

• 40478_2019_793_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Development of an Integrated Platform Using Multidisciplinary Real-World Data to Facilitate Biomarker Discovery for Medical Products.

Clinical And Translational Science

Dabic, Stefan S; Azarbaijani, Yasameen Y; Karapetyan, Tigran T; Loyo-Berrios, Nilsa N; Simonyan, Vahan V; Kitchner, Terrie T; Brilliant, Murray M; Torosyan, Yelizaveta Y

Publication Date: 2020-01

Variant appearance in text: rs7121

PubMed Link: 31386280

Variant Present in the following documents:

• Main text
• CTS-13-98.pdf

View BVdb publication page

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Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets.

Nature Communications

Newell, Felicity F; Kong, Yan Y; Wilmott, James S JS; Johansson, Peter A PA; Ferguson, Peter M PM; Cui, Chuanliang C; Li, Zhongwu Z; Kazakoff, Stephen H SH; Burke, Hazel H; Dodds, Tristan J TJ; Patch, Ann-Marie AM; Nones, Katia K; Tembe, Varsha V; Shang, Ping P; van der Weyden, Louise L; Wong, Kim K; Holmes, Oliver O; Lo, Serigne S; Leonard, Conrad C; Wood, Scott S; Xu, Qinying Q; Rawson, Robert V RV; Mukhopadhyay, Pamela P; Dummer, Reinhard R; Levesque, Mitchell P MP; Jönsson, Göran G; Wang, Xuan X; Yeh, Iwei I; Wu, Hong H; Joseph, Nancy N; Bastian, Boris C BC; Long, Georgina V GV; Spillane, Andrew J AJ; Shannon, Kerwin F KF; Thompson, John F JF; Saw, Robyn P M RPM; Adams, David J DJ; Si, Lu L; Pearson, John V JV; Hayward, Nicholas K NK; Waddell, Nicola N; Mann, Graham J GJ; Guo, Jun J; Scolyer, Richard A RA

Publication Date: 2019-07-18

Variant appearance in text: rs7121

PubMed Link: 31320640

Variant Present in the following documents:

• 41467_2019_11107_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Genetics and the heart rate response to exercise.

Cellular And Molecular Life Sciences : Cmls

van de Vegte, Yordi J YJ; Tegegne, Balewgizie S BS; Verweij, Niek N; Snieder, Harold H; van der Harst, Pim P

Publication Date: 2019-06

Variant appearance in text: rs7121

PubMed Link: 30919020

Variant Present in the following documents:

• Main text
• 18_2019_Article_3079.pdf

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: GNAS: 393C>T; Ile131Ile; rs7121

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

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: GNAS: 393C>T; Ile131Ile

PubMed Link: 30794603

Variant Present in the following documents:

• pone.0212370.s008.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: rs7121

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

Sex-specific association of a common GNAS polymorphism with self-reported cognitive empathy in healthy volunteers.

Plos One

Huetter, Franz Korbinian FK; Horn, Peter Alexander PA; Siffert, Winfried W

Publication Date: 2018

Variant appearance in text: rs7121

PubMed Link: 30365517

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: rs7121

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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XenofilteR: computational deconvolution of mouse and human reads in tumor xenograft sequence data.

Bmc Bioinformatics

Kluin, Roelof J C RJC; Kemper, Kristel K; Kuilman, Thomas T; de Ruiter, Julian R JR; Iyer, Vivek V; Forment, Josep V JV; Cornelissen-Steijger, Paulien P; de Rink, Iris I; Ter Brugge, Petra P; Song, Ji-Ying JY; Klarenbeek, Sjoerd S; McDermott, Ultan U; Jonkers, Jos J; Velds, Arno A; Adams, David J DJ; Peeper, Daniel S DS; Krijgsman, Oscar O

Publication Date: 2018-10-04

Variant appearance in text: rs7121

PubMed Link: 30286710

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Associations between the maternal circulating lipid profile in pregnancy and fetal imprinted gene alleles: a cohort study.

Reproductive Biology And Endocrinology : Rb&E

Petry, Clive J CJ; Koulman, Albert A; Lu, Liangjian L; Jenkins, Benjamin B; Furse, Samuel S; Prentice, Philippa P; Matthews, Lee L; Hughes, Ieuan A IA; Acerini, Carlo L CL; Ong, Ken K KK; Dunger, David B DB

Publication Date: 2018-08-29

Variant appearance in text: rs7121

PubMed Link: 30157874

Variant Present in the following documents:

• Main text
• 12958_2018_Article_399.pdf

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: rs7121

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 3
• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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No Association of CALCA Polymorphisms and Aseptic Loosening after Primary Total Hip Arthroplasty.

Biomed Research International

Aydin-Yüce, Tünay T; Kurscheid, Gina G; Bachmann, Hagen Sjard HS; Gehrke, Thorsten T; Dudda, Marcel M; Jäger, Markus M; Wedemeyer, Christian C; Kauther, Max Daniel MD

Publication Date: 2018

Variant appearance in text: rs7121

PubMed Link: 29967770

Variant Present in the following documents:

• Main text
• BMRI2018-3687415.pdf

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: rs7121

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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Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse.

Molecular Cytogenetics

Smetana, Jan J; Oppelt, Jan J; Štork, Martin M; Pour, Luděk L; Kuglík, Petr P

Publication Date: 2018

Variant appearance in text: rs7121

PubMed Link: 29375670

Variant Present in the following documents:

• 13039_2018_357_MOESM2_ESM.xlsx, sheet 1

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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: GNAS: I131I; rs7121

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1
• oncotarget-08-95841-s002.xlsx, sheet 4

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Relationship between GNAS1 T393C polymorphism and aseptic loosening after total hip arthroplasty.

European Journal Of Medical Research

Stelmach, Patrick P; Kauther, Max D MD; Fuest, Lena L; Kurscheid, Gina G; Gehrke, Thorsten T; Klenke, Stefanie S; Jäger, Marcus M; Wedemeyer, Christian C; Bachmann, Hagen S HS

Publication Date: 2017-08-23

Variant appearance in text: rs7121

PubMed Link: 28830502

Variant Present in the following documents:

• Main text
• 40001_2017_Article_271.pdf

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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: rs7121

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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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: GNAS: I131I; rs7121

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

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Inherited variants in genes somatically mutated in thyroid cancer.

Plos One

Campo, Chiara C; Köhler, Aleksandra A; Figlioli, Gisella G; Elisei, Rossella R; Romei, Cristina C; Cipollini, Monica M; Bambi, Franco F; Hemminki, Kari K; Gemignani, Federica F; Landi, Stefano S; Försti, Asta A

Publication Date: 2017

Variant appearance in text: rs7121

PubMed Link: 28410400

Variant Present in the following documents:

• Main text

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Polymorphisms in the GNAS Gene as Predictors of Ventricular Tachyarrhythmias and Sudden Cardiac Death: Results From the DISCOVERY Trial and Oregon Sudden Unexpected Death Study.

Journal Of The American Heart Association

Wieneke, Heinrich H; Svendsen, Jesper Hastrup JH; Lande, Jeffrey J; Spencker, Sebastian S; Martinez, Juan Gabriel JG; Strohmer, Bernhard B; Toivonen, Lauri L; Le Marec, Hervé H; Garcia-Fernandez, F Javier FJ; Corrado, Domenico D; Huertas-Vazquez, Adriana A; Uy-Evanado, Audrey A; Rusinaru, Carmen C; Reinier, Kyndaron K; Foldesi, Csaba C; Hulak, Wieslaw W; Chugh, Sumeet S SS; Siffert, Winfried W

Publication Date: 2016-11-28

Variant appearance in text: GNAS: 393C>T; rs7121

PubMed Link: 27895044

Variant Present in the following documents:

• Main text
• JAH3-5-e003905-s001.pdf
• JAH3-5-e003905.pdf

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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: GNAS: I131I; rs7121

PubMed Link: 27456059

Variant Present in the following documents:

• srep30457-s2.xls, sheet 1
• srep30457-s2.xls, sheet 2

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Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.

Clinical Epigenetics

Rochtus, Anne A; Martin-Trujillo, Alejandro A; Izzi, Benedetta B; Elli, Francesca F; Garin, Intza I; Linglart, Agnes A; Mantovani, Giovanna G; Perez de Nanclares, Guiomar G; Thiele, Suzanne S; Decallonne, Brigitte B; Van Geet, Chris C; Monk, David D; Freson, Kathleen K

Publication Date: 2016

Variant appearance in text: rs7121

PubMed Link: 26819647

Variant Present in the following documents:

• Main text

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