Publications:

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Genetic testing can change diagnosis and treatment in children with congenital hypothyroidism.

European Thyroid Journal

Kara, Cengiz C; Mammadova, Jamala J; Abur, Ümmet Ü; Gumuskaptan, Cagri C; İzci Güllü, Elif E; Dağdemir, Ayhan A; Aydın, Murat M

Publication Date: 2023-03-01

Variant appearance in text: TSHR: 202C>T; P68S

PubMed Link: 36913313

Variant Present in the following documents:

• Main text
• supplementary_table_1.pdf
• ETJ-22-0212.pdf

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: TSHR: 202C>T; Pro68Ser

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: TSHR: 202C>T

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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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: TSHR: P68S; rs142063461

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

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Congenital Hypothyroidism Patients With Thyroid Hormone Receptor Variants Are Not Rare: A Systematic Review.

Inquiry : A Journal Of Medical Care Organization, Provision And Financing

Da, Dong-Zhu DZ; Wang, Ye Y; Wang, Min M; Long, Zhi Z; Wang, Qian Q; Liu, Jun J

Publication Date: 2021

Variant appearance in text: TSHR: Pro68Ser

PubMed Link: 34919466

Variant Present in the following documents:

• Main text
• 10.1177_00469580211067943.pdf

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Congenital Hypothyroidism Patients With Thyroid Hormone Receptor Variants Are Not Rare: A Systematic Review.

Inquiry : A Journal Of Medical Care Organization, Provision And Financing

Da, Dong-Zhu DZ; Wang, Ye Y; Wang, Min M; Long, Zhi Z; Wang, Qian Q; Liu, Jun J

Publication Date: 2021

Variant appearance in text: TSHR: Pro68Ser

PubMed Link: 34919466

Variant Present in the following documents:

• Main text
• 10.1177_00469580211067943.pdf

View BVdb publication page

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Comprehensive molecular characterization of pediatric radiation-induced high-grade glioma.

Nature Communications

DeSisto, John J; Lucas, John T JT; Xu, Ke K; Donson, Andrew A; Lin, Tong T; Sanford, Bridget B; Wu, Gang G; Tran, Quynh T QT; Hedges, Dale D; Hsu, Chih-Yang CY; Armstrong, Gregory T GT; Arnold, Michael M; Bhatia, Smita S; Flannery, Patrick P; Lemma, Rakeb R; Hardie, Lakotah L; Schüller, Ulrich U; Venkataraman, Sujatha S; Hoffman, Lindsey M LM; Dorris, Kathleen K; Mulcahy Levy, Jean M JM; Hankinson, Todd C TC; Handler, Michael M; Liu, Arthur K AK; Foreman, Nicholas N; Vibhakar, Rajeev R; Jones, Kenneth K; Allen, Sariah S; Zhang, Jinghui J; Baker, Suzanne J SJ; Merchant, Thomas E TE; Orr, Brent A BA; Green, Adam L AL

Publication Date: 2021-09-20

Variant appearance in text: TSHR: P68S; rs142063461

PubMed Link: 34545084

Variant Present in the following documents:

• 41467_2021_25709_MOESM13_ESM.xlsx, sheet 1

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Update on Neonatal Isolated Hyperthyrotropinemia: A Systematic Review.

Frontiers In Endocrinology

Chiesa, Ana E AE; Tellechea, Mariana L ML

Publication Date: 2021

Variant appearance in text: TSHR: P68S

PubMed Link: 34484109

Variant Present in the following documents:

• DataSheet_1.pdf

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Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis.

Frontiers In Endocrinology

Oliver-Petit, Isabelle I; Edouard, Thomas T; Jacques, Virginie V; Bournez, Marie M; Cartault, Audrey A; Grunenwald, Solange S; Savagner, Frédérique F

Publication Date: 2021

Variant appearance in text: TSHR: 202C>T; Pro68Ser; rs142063461

PubMed Link: 34248839

Variant Present in the following documents:

• Main text

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Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.

Genes

Park, Kyung-Sun KS

Publication Date: 2021-06-04

Variant appearance in text: TSHR: 202C>T; Pro68Ser

PubMed Link: 34200080

Variant Present in the following documents:

• Main text
• genes-12-00863.pdf

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Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.

Human Genome Variation

Moradian, Mike M MM; Babikyan, Davit T DT; Markarian, Sione S; Petrosyan, Jonny G JG; Avanesian, Nare N; Arutunyan, Tereza T; Sarkisian, Tamara F TF

Publication Date: 2021-02-09

Variant appearance in text: TSHR: 202C>T; Pro68Ser

PubMed Link: 33558524

Variant Present in the following documents:

• Main text
• 41439_2021_140_MOESM3_ESM.pdf

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A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

Journal Of Medical Case Reports

García-Cárdenas, Jennyfer M JM; Zambrano, Ana Karina AK; Guevara-Ramírez, Patricia P; Guerrero, Santiago S; Runruil, Gabriel G; López-Cortés, Andrés A; Torres-Yaguana, Jorge P JP; Armendáriz-Castillo, Isaac I; Pérez-Villa, Andy A; Yumiceba, Verónica V; Leone, Paola E PE; Paz-Y-Miño, César C

Publication Date: 2020-08-31

Variant appearance in text: TSHR: 202C>T; Pro68Ser; rs142063461

PubMed Link: 32867815

Variant Present in the following documents:

• 13256_2020_2451_MOESM1_ESM.xlsx, sheet 1

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: TSHR: 202C>T; Pro68Ser; rs142063461

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.

Plos Genetics

Padovan-Merhar, Olivia M OM; Raman, Pichai P; Ostrovnaya, Irina I; Kalletla, Karthik K; Rubnitz, Kaitlyn R KR; Sanford, Eric M EM; Ali, Siraj M SM; Miller, Vincent A VA; Mossé, Yael P YP; Granger, Meaghan P MP; Weiss, Brian B; Maris, John M JM; Modak, Shakeel S

Publication Date: 2016-12

Variant appearance in text: TSHR: 202C>T; P68S

PubMed Link: 27997549

Variant Present in the following documents:

• pgen.1006501.s002.xlsx, sheet 1

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Long-term outcome of loss-of-function mutations in thyrotropin receptor gene.

Thyroid : Official Journal Of The American Thyroid Association

Tenenbaum-Rakover, Yardena Y; Almashanu, Shlomo S; Hess, Ora O; Admoni, Osnat O; Hag-Dahood Mahameed, Ahmad A; Schwartz, Naama N; Allon-Shalev, Stavit S; Bercovich, Dani D; Refetoff, Samuell S

Publication Date: 2015-03

Variant appearance in text: TSHR: 202C>T; P68S

PubMed Link: 25557138

Variant Present in the following documents:

• Main text

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Current loss-of-function mutations in the thyrotropin receptor gene: when to investigate, clinical effects, and treatment.

Journal Of Clinical Research In Pediatric Endocrinology

Cassio, Alessandra A; Nicoletti, Annalisa A; Rizzello, Angela A; Zazzetta, Emanuela E; Bal, Milva M; Baldazzi, Lilia L

Publication Date: 2013

Variant appearance in text: TSHR: P68S

PubMed Link: 23154162

Variant Present in the following documents:

• Main text
• JCRPE-5-29.pdf

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Consecutive mutational events in a TSHR allele of Arab families with resistance to thyroid stimulating hormone.

Thyroid : Official Journal Of The American Thyroid Association

Sriphrapradang, Chutintorn C; German, Alina A; Dumitrescu, Alexandra M AM; Refetoff, Samuel S

Publication Date: 2012-03

Variant appearance in text: TSHR: 202C>T; P68S

PubMed Link: 22313426

Variant Present in the following documents:

• Main text

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Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community.

The Journal Of Clinical Endocrinology And Metabolism

Tenenbaum-Rakover, Yardena Y; Grasberger, Helmut H; Mamanasiri, Sunee S; Ringkananont, Usanee U; Montanelli, Lucia L; Barkoff, Marla S MS; Dahood, Ahmad Mahameed-Hag AM; Refetoff, Samuel S

Publication Date: 2009-05

Variant appearance in text: TSHR: P68S

PubMed Link: 19240155

Variant Present in the following documents:

• Main text

View BVdb publication page

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