Publications:

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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: rs17731

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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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: rs17731

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.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: rs17731

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Identifying loci with different allele frequencies among cases of eight psychiatric disorders using CC-GWAS.

Nature Genetics

Peyrot, Wouter J WJ; Price, Alkes L AL

Publication Date: 2021-04

Variant appearance in text: rs17731

PubMed Link: 33686288

Variant Present in the following documents:

• Main text
• nihms-1663271.pdf

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: rs17731

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

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: rs17731

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

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: rs17731

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4
• oncotarget-08-95841-s002.xlsx, 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: rs17731

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Identification of Gene Loci That Overlap Between Schizophrenia and Educational Attainment.

Schizophrenia Bulletin

Le Hellard, Stéphanie S; Wang, Yunpeng Y; Witoelar, Aree A; Zuber, Verena V; Bettella, Francesco F; Hugdahl, Kenneth K; Espeseth, Thomas T; Steen, Vidar M VM; Melle, Ingrid I; Desikan, Rahul R; Schork, Andrew J AJ; Thompson, Wesley K WK; Dale, Anders M AM; Djurovic, Srdjan S; Andreassen, Ole A OA; ,

Publication Date: 2017-05-01

Variant appearance in text: rs17731

PubMed Link: 27338279

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide analysis correlates Ayurveda Prakriti.

Scientific Reports

Govindaraj, Periyasamy P; Nizamuddin, Sheikh S; Sharath, Anugula A; Jyothi, Vuskamalla V; Rotti, Harish H; Raval, Ritu R; Nayak, Jayakrishna J; Bhat, Balakrishna K BK; Prasanna, B V BV; Shintre, Pooja P; Sule, Mayura M; Joshi, Kalpana S KS; Dedge, Amrish P AP; Bharadwaj, Ramachandra R; Gangadharan, G G GG; Nair, Sreekumaran S; Gopinath, Puthiya M PM; Patwardhan, Bhushan B; Kondaiah, Paturu P; Satyamoorthy, Kapaettu K; Valiathan, Marthanda Varma Sankaran MV; Thangaraj, Kumarasamy K

Publication Date: 2015-10-29

Variant appearance in text: rs17731

PubMed Link: 26511157

Variant Present in the following documents:

• Main text
• srep15786-s1.pdf
• srep15786.pdf

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: rs17731

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias.

European Journal Of Human Genetics : Ejhg

Söderhäll, Cilla C; Körberg, Izabella Baranowska IB; Thai, Hanh T T HT; Cao, Jia J; Chen, Yougen Y; Zhang, Xufeng X; Shulu, Zu Z; van der Zanden, Loes F M LF; van Rooij, Iris A L M IA; Frisén, Louise L; Roeleveld, Nel N; Markljung, Ellen E; Kockum, Ingrid I; Nordenskjöld, Agneta A

Publication Date: 2015-04

Variant appearance in text: rs17731

PubMed Link: 24986825

Variant Present in the following documents:

• Main text

View BVdb publication page

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