Publications:

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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: TNFRSF11A: H141Y

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_MOESM6_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: TNFRSF11A: H141Y; rs35211496

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_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: TNFRSF11A: H141Y; rs35211496

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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Pharmacogenomics of Hypersensitivity to Non-steroidal Anti-inflammatory Drugs.

Frontiers In Genetics

Trinh, Hoang Kim Tu HKT; Pham, Le Duy LD; Le, Kieu Minh KM; Park, Hae-Sim HS

Publication Date: 2021

Variant appearance in text: rs35211496

PubMed Link: 34249079

Variant Present in the following documents:

• Main text
• fgene-12-647257.pdf

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: TNFRSF11A: 421C>T; His141Tyr; rs35211496

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

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: TNFRSF11A: 421C>T; H141Y; rs35211496

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 2

View BVdb publication page

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Genomic and evolutionary portraits of disease relapse in acute myeloid leukemia.

Leukemia

Rapaport, Franck F; Neelamraju, Yaseswini Y; Baslan, Timour T; Hassane, Duane D; Gruszczynska, Agata A; Robert de Massy, Marc M; Farnoud, Noushin N; Haddox, Samuel S; Lee, Tak T; Medina-Martinez, Juan J; Sheridan, Caroline C; Thurmond, Alexis A; Becker, Michael M; Bekiranov, Stefan S; Carroll, Martin M; Moses Murdock, Heardly H; Valk, Peter J M PJM; Bullinger, Lars L; D'Andrea, Richard R; Lowe, Scott W SW; Neuberg, Donna D; Levine, Ross L RL; Melnick, Ari A; Garrett-Bakelman, Francine E FE

Publication Date: 2021-09

Variant appearance in text: TNFRSF11A: His141Tyr

PubMed Link: 33580203

Variant Present in the following documents:

• 41375_2021_1153_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Association of Polymorphisms in RANK and RANKL Genes with Osteopenia in Arab Postmenopausal Women.

Disease Markers

Abdi, Saba S; Bukhari, Ihtisham I; Ansari, Mohammed G A MGA; BinBaz, Rawan A RA; Mohammed, Abdul Khader AK; Hussain, Syed Danish SD; Aljohani, Naji N; Al-Daghri, Nasser M NM

Publication Date: 2020

Variant appearance in text: rs35211496

PubMed Link: 33376557

Variant Present in the following documents:

• Main text
• DM2020-1285216.pdf

View BVdb publication page

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Variants of genes encoding TNF receptors and ligands and proteins regulating TNF activation in familial multiple sclerosis.

Cns Neuroscience & Therapeutics

Torre-Fuentes, Laura L; Matías-Guiu, Jordi A JA; Pytel, Vanesa V; Montero-Escribano, Paloma P; Maietta, Paolo P; Álvarez, Sara S; Gómez-Pinedo, Ulises U; Matías-Guiu, Jorge J

Publication Date: 2020-11

Variant appearance in text: TNFRSF11A: 421C>T; rs35211496

PubMed Link: 32951330

Variant Present in the following documents:

• Main text
• CNS-26-1178-s002.xlsx, sheet 1
• CNS-26-1178.pdf

View BVdb publication page

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Polymorphisms within the RANK and RANKL Encoding Genes in Patients with Rheumatoid Arthritis: Association with Disease Progression and Effectiveness of the Biological Treatment.

Archivum Immunologiae Et Therapiae Experimentalis

Wielińska, Joanna J; Kolossa, Katarzyna K; Świerkot, Jerzy J; Dratwa, Marta M; Iwaszko, Milena M; Bugaj, Bartosz B; Wysoczańska, Barbara B; Chaszczewska-Markowska, Monika M; Jeka, Sławomir S; Bogunia-Kubik, Katarzyna K

Publication Date: 2020-08-19

Variant appearance in text: rs35211496

PubMed Link: 32815001

Variant Present in the following documents:

• Main text
• 5_2020_Article_590.pdf

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: TNFRSF11A: 421C>T; His141Tyr; rs35211496

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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The association between RANK, RANKL and OPG gene polymorphisms and the risk of rheumatoid arthritis: a case-controlled study and meta-analysis.

Bioscience Reports

Yang, Haoyu H; Liu, Weixi W; Zhou, Xindie X; Rui, Huan H; Zhang, Hui H; Liu, Ruiping R

Publication Date: 2019-06-28

Variant appearance in text: rs35211496

PubMed Link: 31209146

Variant Present in the following documents:

• Main text
• bsr-39-bsr20182356.pdf

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: TNFRSF11A: 421C>T; His141Tyr

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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: TNFRSF11A: H141Y; rs35211496

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11

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: rs35211496

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, 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: TNFRSF11A: 421C>T; His141Tyr; rs35211496

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Prevalence of polymorphisms in OPG, RANKL and RANK as potential markers for Charcot arthropathy development.

Scientific Reports

Bruhn-Olszewska, Bożena B; Korzon-Burakowska, Anna A; Węgrzyn, Grzegorz G; Jakóbkiewicz-Banecka, Joanna J

Publication Date: 2017-03-29

Variant appearance in text: rs35211496

PubMed Link: 28356555

Variant Present in the following documents:

• Main text
• 41598_2017_Article_563.pdf

View BVdb publication page

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Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Nature Communications

Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Clark, Victoria E VE; Coşkun, Süleyman S; Henegariu, Octavian O; Duran, Daniel D; Erson-Omay, E Zeynep EZ; Kaulen, Leon D LD; Lee, Tong Ihn TI; Abraham, Brian J BJ; Simon, Matthias M; Krischek, Boris B; Timmer, Marco M; Goldbrunner, Roland R; Omay, S Bülent SB; Baranoski, Jacob J; Baran, Burçin B; Carrión-Grant, Geneive G; Bai, Hanwen H; Mishra-Gorur, Ketu K; Schramm, Johannes J; Moliterno, Jennifer J; Vortmeyer, Alexander O AO; Bilgüvar, Kaya K; Yasuno, Katsuhito K; Young, Richard A RA; Günel, Murat M

Publication Date: 2017-02-14

Variant appearance in text: TNFRSF11A: 421C>T; rs35211496

PubMed Link: 28195122

Variant Present in the following documents:

• ncomms14433-s3.xlsx, sheet 3

View BVdb publication page

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Association between RANK, RANKL and OPG polymorphisms with ACPA and erosions in rheumatoid arthritis: results from a meta-analysis involving three French cohorts.

Rmd Open

Ruyssen-Witrand, Adeline A; Degboé, Yannick Y; Cantagrel, A A; Nigon, D D; Lukas, C C; Scaramuzzino, S S; Allanore, Y Y; Vittecoq, O O; Schaeverbeke, T T; Morel, J J; Sibilia, J J; Cambon-Thomsen, A A; Dieudé, P P; Constantin, A A

Publication Date: 2016

Variant appearance in text: rs35211496

PubMed Link: 27651922

Variant Present in the following documents:

• Main text
• rmdopen-2015-000226.pdf

View BVdb publication page

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The prognostic role of RANK SNP rs34945627 in breast cancer patients with bone metastases.

Oncotarget

Ferreira, Arlindo A; Alho, Irina I; Vendrell, Inês I; Melo, Marta M; Brás, Raquel R; Costa, Ana Lúcia AL; Sousa, Ana Rita AR; Mansinho, André A; Abreu, Catarina C; Pulido, Catarina C; Macedo, Daniela D; Pacheco, Teresa T; Correia, Lurdes L; Costa, Luis L; Casimiro, Sandra S

Publication Date: 2016-07-05

Variant appearance in text: rs35211496

PubMed Link: 27191503

Variant Present in the following documents:

• Main text
• oncotarget-07-41380.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: rs35211496

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.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: TNFRSF11A: H141Y

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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: TNFRSF11A: H141Y; rs35211496

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: TNFRSF11A: 421C>T; H141Y; rs35211496

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A

Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA

Publication Date: 2014

Variant appearance in text: TNFRSF11A: H141Y; rs35211496

PubMed Link: 25469153

Variant Present in the following documents:

• 12979_2014_19_MOESM2_ESM.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: TNFRSF11A: H141Y; rs35211496

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK.

Bone

Whyte, Michael P MP; Tau, Cristina C; McAlister, William H WH; Zhang, Xiafang X; Novack, Deborah V DV; Preliasco, Virginia V; Santini-Araujo, Eduardo E; Mumm, Steven S

Publication Date: 2014-11

Variant appearance in text: RANK: His141Tyr; rs35211496

PubMed Link: 25063546

Variant Present in the following documents:

• Main text

View BVdb publication page

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Receptor activator of nuclear factor kappa-B gene polymorphisms in Iranian periodontitis and peri-implantitis patients.

Journal Of Periodontal & Implant Science

Kadkhodazadeh, Mahdi M; Baghani, Zahra Z; Ebadian, Ahmad Reza AR; Kaghazchi, Zahra Z; Amid, Reza R

Publication Date: 2014-06

Variant appearance in text: rs35211496

PubMed Link: 24921058

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in the RANK/RANKL genes and their effect on bone specific prognosis in breast cancer patients.

Biomed Research International

Hein, Alexander A; Bayer, Christian M CM; Schrauder, Michael G MG; Häberle, Lothar L; Heusinger, Katharina K; Strick, Reiner R; Ruebner, Matthias M; Lux, Michael P MP; Renner, Stefan P SP; Schulz-Wendtland, Rüdiger R; Ekici, Arif B AB; Hartmann, Arndt A; Beckmann, Matthias W MW; Fasching, Peter A PA

Publication Date: 2014

Variant appearance in text: RANK: His141Tyr; rs35211496

PubMed Link: 24729980

Variant Present in the following documents:

• Main text
• BMRI2014-842452.pdf

View BVdb publication page

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Genetic polymorphism of the OPG gene associated with breast cancer.

Bmc Cancer

Ney, Jasmin Teresa JT; Juhasz-Boess, Ingolf I; Gruenhage, Frank F; Graeber, Stefan S; Bohle, Rainer Maria RM; Pfreundschuh, Michael M; Solomayer, Erich Franz EF; Assmann, Gunter G

Publication Date: 2013-01-31

Variant appearance in text: RANK: H141Y; rs35211496

PubMed Link: 23369128

Variant Present in the following documents:

• Main text
• 1471-2407-13-40.pdf

View BVdb publication page

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