Publications:

---

A case of midbrain germinoma: A literature review for radiographic and clinical features.

Neuro-Oncology Advances

Miyake, Yohei Y; Tateishi, Kensuke K; Oshima, Akito A; Hongo, Takeshi T; Satomi, Kaishi K; Ichimura, Koichi K; Kato, Ayumi A; Iwashita, Hiromichi H; Utsunomiya, Daisuke D; Yamamoto, Tetsuya T

Publication Date: 2023

Variant appearance in text: RNF39: A304E; rs2301753

PubMed Link: 37215953

Variant Present in the following documents:

• vdad043_suppl_supplementary_tables.xlsx, sheet 1

View BVdb publication page

---

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: RNF39: A304E

PubMed Link: 36652909

Variant Present in the following documents:

• mmc3.xlsx, sheet 32

View BVdb publication page

---

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: RNF39: A304E

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2

View BVdb publication page

---

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: RNF39: A304E

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

---

Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology

Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y

Publication Date: 2021

Variant appearance in text: RNF39: A304E

PubMed Link: 35095878

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

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: RNF39: 911C>A; A304E; rs2301753

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Even "WISE-R?"-an Update on the NHLBI-Sponsored Women's Ischemia Syndrome Evaluation.

Current Atherosclerosis Reports

Barsky, Lili L; Merz, C Noel Bairey CNB; Wei, Janet J; Shufelt, Chrisandra C; Handberg, Eileen E; Pepine, Carl C; Rutledge, Thomas T; Reis, Steven S; Doyle, Mark M; Rogers, William W; Shaw, Leslee L; Sopko, George G

Publication Date: 2020-06-18

Variant appearance in text: rs2301753

PubMed Link: 32556630

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: RNF39: A304E; rs2301753

PubMed Link: 31597922

Variant Present in the following documents:

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

View BVdb publication page

---

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: RNF39: A304E; rs2301753

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

Powerful and efficient SNP-set association tests across multiple phenotypes using GWAS summary data.

Bioinformatics (Oxford, England)

Guo, Bin B; Wu, Baolin B

Publication Date: 2019-04-15

Variant appearance in text: rs2301753

PubMed Link: 30239606

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetic loci associated with nonobstructive coronary artery disease in Caucasian women.

Physiological Genomics

Weng, Liming L; Taylor, Kent D KD; Chen, Yii-Der Ida YD; Sopko, George G; Kelsey, Sheryl F SF; Bairey Merz, C Noel CN; Pepine, Carl J CJ; Miller, Virginia M VM; Rotter, Jerome I JI; Gulati, Martha M; Goodarzi, Mark O MO; Cooper-DeHoff, Rhonda M RM

Publication Date: 2016-01

Variant appearance in text: rs2301753

PubMed Link: 26534935

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: RNF39: A304E

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

---

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: RNF39: A304E; rs2301753

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

Regulatory variation in HIV-1 dependency factor ZNRD1 associates with host resistance to HIV-1 acquisition.

The Journal Of Infectious Diseases

An, Ping P; Goedert, James J JJ; Donfield, Sharyne S; Buchbinder, Susan S; Kirk, Gregory D GD; Detels, Roger R; Winkler, Cheryl A CA

Publication Date: 2014-11-15

Variant appearance in text: RNF39: A304E; rs2301753

PubMed Link: 24842830

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Host genetics and immune control of HIV-1 infection: fine mapping for the extended human MHC region in an African cohort.

Genes And Immunity

Prentice, H A HA; Pajewski, N M NM; He, D D; Zhang, K K; Brown, E E EE; Kilembe, W W; Allen, S S; Hunter, E E; Kaslow, R A RA; Tang, J J

Publication Date: 2014

Variant appearance in text: RNF39: A304E; rs2301753

PubMed Link: 24784026

Variant Present in the following documents:

• NIHMS580846-supplement-1.xlsx, sheet 2
• NIHMS580846-supplement-1.xlsx, sheet 3

View BVdb publication page

---

Common genetic variation and the control of HIV-1 in humans.

Plos Genetics

Fellay, Jacques J; Ge, Dongliang D; Shianna, Kevin V KV; Colombo, Sara S; Ledergerber, Bruno B; Cirulli, Elizabeth T ET; Urban, Thomas J TJ; Zhang, Kunlin K; Gumbs, Curtis E CE; Smith, Jason P JP; Castagna, Antonella A; Cozzi-Lepri, Alessandro A; De Luca, Andrea A; Easterbrook, Philippa P; Günthard, Huldrych F HF; Mallal, Simon S; Mussini, Cristina C; Dalmau, Judith J; Martinez-Picado, Javier J; Miro, José M JM; Obel, Niels N; Wolinsky, Steven M SM; Martinson, Jeremy J JJ; Detels, Roger R; Margolick, Joseph B JB; Jacobson, Lisa P LP; Descombes, Patrick P; Antonarakis, Stylianos E SE; Beckmann, Jacques S JS; O'Brien, Stephen J SJ; Letvin, Norman L NL; McMichael, Andrew J AJ; Haynes, Barton F BF; Carrington, Mary M; Feng, Sheng S; Telenti, Amalio A; Goldstein, David B DB; ,

Publication Date: 2009-12

Variant appearance in text: rs2301753

PubMed Link: 20041166

Variant Present in the following documents:

• Main text
• pgen.1000791.pdf

View BVdb publication page

---

The HLA-B/-C haplotype block contains major determinants for host control of HIV.

Genes And Immunity

Trachtenberg, E E; Bhattacharya, T T; Ladner, M M; Phair, J J; Erlich, H H; Wolinsky, S S

Publication Date: 2009-12

Variant appearance in text: rs2301753

PubMed Link: 19693088

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: RNF39: A304E; rs2301753

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File011.xls, sheet 4
• gkn1008_nar-01723-s-2008-File009.xls, sheet 4

View BVdb publication page

---

HIV-1 disease-influencing effects associated with ZNRD1, HCP5 and HLA-C alleles are attributable mainly to either HLA-A10 or HLA-B*57 alleles.

Plos One

Catano, Gabriel G; Kulkarni, Hemant H; He, Weijing W; Marconi, Vincent C VC; Agan, Brian K BK; Landrum, Michael M; Anderson, Stephanie S; Delmar, Judith J; Telles, Vanessa V; Song, Li L; Castiblanco, John J; Clark, Robert A RA; Dolan, Matthew J MJ; Ahuja, Sunil K SK

Publication Date: 2008

Variant appearance in text: rs2301753

PubMed Link: 18982067

Variant Present in the following documents:

• Main text

View BVdb publication page

---