Publications:

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An explainable model of host genetic interactions linked to COVID-19 severity.

Communications Biology

Onoja, Anthony A; Picchiotti, Nicola N; Fallerini, Chiara C; Baldassarri, Margherita M; Fava, Francesca F; , ; Colombo, Francesca F; Chiaromonte, Francesca F; Renieri, Alessandra A; Furini, Simone S; Raimondi, Francesco F

Publication Date: 2022-10-26

Variant appearance in text: rs201934623

PubMed Link: 36289370

Variant Present in the following documents:

• 42003_2022_4073_MOESM4_ESM.xlsx, sheet 1

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Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD

Journal Of Clinical Research In Pediatric Endocrinology

Akcan, Neşe N; Uyguner, Oya O; Baş, Firdevs F; Altunoğlu, Umut U; Toksoy, Güven G; Karaman, Birsen B; Avcı, Şahin Ş; Yavaş Abalı, Zehra Z; Poyrazoğlu, Şükran Ş; Aghayev, Agharza A; Karaman, Volkan V; Bundak, Rüveyde R; Başaran, Seher S; Darendeliler, Feyza F

Publication Date: 2022-06-07

Variant appearance in text: AIS: 1174C>T

PubMed Link: 35135181

Variant Present in the following documents:

• Main text
• JCRPE-14-153.pdf

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: rs201934623

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth.

Scientific Reports

Huusko, Johanna M JM; Tiensuu, Heli H; Haapalainen, Antti M AM; Pasanen, Anu A; Tissarinen, Pinja P; Karjalainen, Minna K MK; Zhang, Ge G; Christensen, Kaare K; Ryckman, Kelli K KK; Jacobsson, Bo B; Murray, Jeffrey C JC; Kingsmore, Stephen F SF; Hallman, Mikko M; Muglia, Louis J LJ; Rämet, Mika M

Publication Date: 2021-08-24

Variant appearance in text: rs201934623

PubMed Link: 34429451

Variant Present in the following documents:

• Main text
• 41598_2021_Article_96374.pdf

View BVdb publication page

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Pharmacogenomic landscape of COVID-19 therapies from Indian population genomes.

Pharmacogenomics

Sahana, S S; Sivadas, Ambily A; Mangla, Mohit M; Jain, Abhinav A; Bhoyar, Rahul C RC; Pandhare, Kavita K; Mishra, Anushree A; Sharma, Disha D; Imran, Mohamed M; Senthivel, Vigneshwar V; Divakar, Mohit Kumar MK; Rophina, Mercy M; Jolly, Bani B; Batra, Arushi A; Sharma, Sumit S; Siwach, Sanjay S; Jadhao, Arun G AG; Palande, Nikhil V NV; Jha, Ganga Nath GN; Ashrafi, Nishat N; Mishra, Prashant Kumar PK; Vidhya, A K AK; Jain, Suman S; Dash, Debasis D; Kumar, Nachimuthu Senthil NS; Vanlallawma, Andrew A; Sarma, Ranjan Jyoti RJ; Chhakchhuak, Lalchhandama L; Kalyanaraman, Shantaraman S; Mahadevan, Radha R; Kandasamy, Sunitha S; Devi, Pabitha P; Rajagopal, Raskin Erusan RE; Ramya, J Ezhil JE; Devi, P Nirmala PN; Bajaj, Anjali A; Gupta, Vishu V; Mathew, Samatha S; Goswami, Sangam S; Prakash, Savinitha S; Joshi, Kandarp K; Kumla, Meya M; Sreedevi, S S; Gajjar, Devarshi D; Soraisham, Ronibala R; Yadav, Rohit R; Devi, Yumnam Silla YS; Gupta, Aayush A; Mukerji, Mitali M; Ramalingam, Sivaprakash S; Binukumar, B K BK; Sivasubbu, Sridhar S; Scaria, Vinod V

Publication Date: 2021-07

Variant appearance in text: rs201934623

PubMed Link: 34142560

Variant Present in the following documents:

• pgs-2021-0028.pdf

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Phenotypic and biochemical characteristics and molecular basis in 36 Chinese patients with androgen receptor variants.

Orphanet Journal Of Rare Diseases

Zhu, Hui H; Yao, Haijun H; Xu, Yue Y; Chen, Yan Y; Han, Bing B; Wang, Nan N; Wang, Hao H; Zhang, Qiang Q; Zhu, Wenjiao W; Shi, Yuanping Y; Sun, Hua H; Zhao, Shuangxia S; Song, Huaidong H; Liu, Yang Y; Qiao, Jie J

Publication Date: 2021-03-09

Variant appearance in text: AIS: P392S

PubMed Link: 33750429

Variant Present in the following documents:

• Main text
• 13023_2021_Article_1765.pdf

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Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor.

Journal Of Clinical Medicine

Loules, Gedeon G; Parsopoulou, Faidra F; Zamanakou, Maria M; Csuka, Dorottya D; Bova, Maria M; González-Quevedo, Teresa T; Psarros, Fotis F; Porebski, Gregor G; Speletas, Matthaios M; Firinu, Davide D; Del Giacco, Stefano S; Suffritti, Chiara C; Makris, Michael M; Vatsiou, Sofia S; Zanichelli, Andrea A; Farkas, Henriette H; Germenis, Anastasios E AE

Publication Date: 2020-10-23

Variant appearance in text: rs201934623

PubMed Link: 33114181

Variant Present in the following documents:

• Main text
• jcm-09-03402.pdf

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Reference exome data for a Northern Brazilian population.

Scientific Data

Weeks, Alexia L AL; Francis, Richard W RW; Neri, Joao I C F JICF; Costa, Nathaly M C NMC; Arrais, Nivea M R NMR; Lassmann, Timo T; Blackwell, Jenefer M JM; Jeronimo, Selma M B SMB

Publication Date: 2020-10-21

Variant appearance in text: rs201934623

PubMed Link: 33087711

Variant Present in the following documents:

• 41597_2020_703_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Cryptorchidism and Testicular Tumor: Comprehensive Analysis of Common Clinical Features and Search of SNVs in the KIT and AR Genes.

Frontiers In Cell And Developmental Biology

Landero-Huerta, Daniel Adrian DA; Vigueras-Villaseñor, Rosa María RM; Yokoyama-Rebollar, Emiy E; García-Andrade, Fabiola F; Rojas-Castañeda, Julio César JC; Herrera-Montalvo, Luis Alonso LA; Díaz-Chávez, José J; Pérez-Añorve, Isidro Xavier IX; Aréchaga-Ocampo, Elena E; Chávez-Saldaña, Margarita Dolores MD

Publication Date: 2020

Variant appearance in text: rs201934623

PubMed Link: 32850863

Variant Present in the following documents:

• Main text
• fcell-08-00762.pdf

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Development of a novel next-generation sequencing panel for diagnosis of quantitative spermatogenic impairment.

Journal Of Assisted Reproduction And Genetics

Rocca, Maria Santa MS; Msaki, Aichi A; Ghezzi, Marco M; Cosci, Ilaria I; Pilichou, Kalliopi K; Celeghin, Rudy R; Foresta, Carlo C; Ferlin, Alberto A

Publication Date: 2020-04

Variant appearance in text: rs201934623

PubMed Link: 32242295

Variant Present in the following documents:

• Main text

View BVdb publication page

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MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.

Human Molecular Genetics

Bugiardini, Enrico E; Mitchell, Alice L AL; Rosa, Ilaria Dalla ID; Horning-Do, Hue-Tran HT; Pitmann, Alan M AM; Poole, Olivia V OV; Holton, Janice L JL; Shah, Sachit S; Woodward, Cathy C; Hargreaves, Iain I; Quinlivan, Rosaline R; Amunts, Alexey A; Wiesner, Rudolf J RJ; Houlden, Henry H; Holt, Ian J IJ; Hanna, Michael G MG; Pitceathly, Robert D S RDS; Spinazzola, Antonella A

Publication Date: 2019-08-15

Variant appearance in text: rs201934623

PubMed Link: 31039582

Variant Present in the following documents:

• hmg-2019-d-00137_bugiardini_r1_supplementary_table_s1_ddz093.xlsx, sheet 1

View BVdb publication page

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Utility of a Commercially Available Blood Steroid Profile in Endocrine Practice.

Indian Journal Of Endocrinology And Metabolism

Sarathi, Vijaya V; Atluri, Sridevi S; Pradeep, T V S TVS; Rallapalli, Sindhu S SS; Rakesh, Chintala V CV; Sunanda, Tirupati T; Kumar, K Dileep KD

Publication Date: 2019

Variant appearance in text: AIS: Pro392Ser

PubMed Link: 31016162

Variant Present in the following documents:

• IJEM-23-97.pdf

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De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report.

Bmc Medical Genetics

Mavros, Chrystal F CF; Brownstein, Catherine A CA; Thyagrajan, Roshni R; Genetti, Casie A CA; Tembulkar, Sahil S; Graber, Kelsey K; Murphy, Quinn Q; Cabral, Kristin K; VanNoy, Grace E GE; Bainbridge, Matthew M; Shi, Jiahai J; Agrawal, Pankaj B PB; Beggs, Alan H AH; D'Angelo, Eugene E; Gonzalez-Heydrich, Joseph J

Publication Date: 2018-11-13

Variant appearance in text: rs201934623

PubMed Link: 30424743

Variant Present in the following documents:

• Main text
• 12881_2018_Article_711.pdf

View BVdb publication page

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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: rs201934623

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Androgen insensitivity syndrome: a review.

Archives Of Endocrinology And Metabolism

Batista, Rafael Loch RL; Costa, Elaine M Frade EMF; Rodrigues, Andresa de Santi AS; Gomes, Nathalia Lisboa NL; Faria, José Antonio JA; Nishi, Mirian Y MY; Arnhold, Ivo Jorge Prado IJP; Domenice, Sorahia S; Mendonca, Berenice Bilharinho de BB

Publication Date: 2018

Variant appearance in text: AIS: Pro392Ser

PubMed Link: 29768628

Variant Present in the following documents:

• Main text
• 2359-4292-aem-62-02-0227.pdf

View BVdb publication page

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Mutational Analysis of Androgen Receptor Gene in Two Families with Androgen Insensitivity.

Indian Journal Of Endocrinology And Metabolism

Akella, Radha Ramadevi RR

Publication Date: 2017

Variant appearance in text: AIS: P392S

PubMed Link: 28670533

Variant Present in the following documents:

• IJEM-21-520.pdf

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Is there any clinical relevant difference between non mosaic Klinefelter Syndrome patients with or without Androgen Receptor variations?

Scientific Reports

Valente, Umberto U; Vinanzi, Cinzia C; Dipresa, Savina S; Selice, Riccardo R; Menegazzo, Massimo M; Iafrate, Massimo M; Foresta, Carlo C; Garolla, Andrea A

Publication Date: 2017-06-13

Variant appearance in text: AIS: P392S

PubMed Link: 28611373

Variant Present in the following documents:

• Main text

View BVdb publication page

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Minor hypospadias: the "tip of the iceberg" of the partial androgen insensitivity syndrome.

Plos One

Kalfa, Nicolas N; Philibert, Pascal P; Werner, Ralf R; Audran, Françoise F; Bashamboo, Anu A; Lehors, Hélène H; Haddad, Myriam M; Guys, Jean Michel JM; Reynaud, Rachel R; Alessandrini, Pierre P; Wagner, Kathy K; Kurzenne, Jean Yves JY; Bastiani, Florence F; Bréaud, Jean J; Valla, Jean Stéphane JS; Lacombe, Gérard Morisson GM; Orsini, Mattea M; Daures, Jean-Pierre JP; Hiort, Olaf O; Paris, Françoise F; McElreavey, Kenneth K; Sultan, Charles C

Publication Date: 2013

Variant appearance in text: AIS: 1174C>T

PubMed Link: 23637914

Variant Present in the following documents:

• Main text
• pone.0061824.pdf

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