Publications:

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Genetic variants of G-protein coupled receptors associated with pubertal disorders.

Reproductive Medicine And Biology

Suzuki, Erina E; Miyado, Mami M; Kuroki, Yoko Y; Fukami, Maki M

Publication Date: 2023

Variant appearance in text: GNRHR: Q11K

PubMed Link: 37122876

Variant Present in the following documents:

• Main text
• RMB2-22-e12515.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: GNRHR: 31C>A; Gln11Lys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: GNRHR: Q11K; rs776834867

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

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Autosomal single-gene disorders involved in human infertility.

Saudi Journal Of Biological Sciences

Jedidi, Ines I; Ouchari, Mouna M; Yin, Qinan Q

Publication Date: 2018-07

Variant appearance in text: GNRHR: Q11K

PubMed Link: 30108436

Variant Present in the following documents:

• Main text
• main.pdf

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Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.

European Journal Of Endocrinology

Cassatella, Daniele D; Howard, Sasha R SR; Acierno, James S JS; Xu, Cheng C; Papadakis, Georgios E GE; Santoni, Federico A FA; Dwyer, Andrew A AA; Santini, Sara S; Sykiotis, Gerasimos P GP; Chambion, Caroline C; Meylan, Jenny J; Marino, Laura L; Favre, Lucie L; Li, Jiankang J; Liu, Xuanzhu X; Zhang, Jianguo J; Bouloux, Pierre-Marc PM; Geyter, Christian De C; Paepe, Anne De A; Dhillo, Waljit S WS; Ferrara, Jean-Marc JM; Hauschild, Michael M; Lang-Muritano, Mariarosaria M; Lemke, Johannes R JR; Flück, Christa C; Nemeth, Attila A; Phan-Hug, Franziska F; Pignatelli, Duarte D; Popovic, Vera V; Pekic, Sandra S; Quinton, Richard R; Szinnai, Gabor G; l'Allemand, Dagmar D; Konrad, Daniel D; Sharif, Saba S; Iyidir, Özlem Turhan ÖT; Stevenson, Brian J BJ; Yang, Huanming H; Dunkel, Leo L; Pitteloud, Nelly N

Publication Date: 2018-04

Variant appearance in text: GNRHR: 31C>A; Gln11Lys

PubMed Link: 29419413

Variant Present in the following documents:

• eje-178-377-t002.pdf

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: GNRHR: 31C>A; Q11K

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay.

Fertility And Sterility

Beneduzzi, Daiane D; Trarbach, Ericka B EB; Min, Le L; Jorge, Alexander A L AA; Garmes, Heraldo M HM; Renk, Alessandra Covallero AC; Fichna, Marta M; Fichna, Piotr P; Arantes, Karina A KA; Costa, Elaine M F EM; Zhang, Anna A; Adeola, Oluwaseun O; Wen, Junping J; Carroll, Rona S RS; Mendonça, Berenice B BB; Kaiser, Ursula B UB; Latronico, Ana Claudia AC; Silveira, Letícia F G LF

Publication Date: 2014-09

Variant appearance in text: GNRHR: Q11K

PubMed Link: 25016926

Variant Present in the following documents:

• Main text

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Responsiveness to a physiological regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism.

The Journal Of Clinical Endocrinology And Metabolism

Abel, Brent S BS; Shaw, Natalie D ND; Brown, Jenifer M JM; Adams, Judith M JM; Alati, Teresa T; Martin, Kathryn A KA; Pitteloud, Nelly N; Seminara, Stephanie B SB; Plummer, Lacey L; Pignatelli, Duarte D; Crowley, William F WF; Welt, Corrine K CK; Hall, Janet E JE

Publication Date: 2013-02

Variant appearance in text: GNRHR: Q11K

PubMed Link: 23341491

Variant Present in the following documents:

• Main text

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Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism.

Journal Of Clinical Research In Pediatric Endocrinology

Gürbüz, Fatih F; Kotan, L Damla LD; Mengen, Eda E; Şıklar, Zeynep Z; Berberoğlu, Merih M; Dökmetaş, Sebila S; Kılıçlı, Mehmet Fatih MF; Güven, Ayla A; Kirel, Birgül B; Saka, Nurçin N; Poyrazoğlu, Şükran Ş; Cesur, Yaşar Y; Doğan, Murat M; Özen, Samim S; Özbek, Mehmet Nuri MN; Demirbilek, Hüseyin H; Kekil, M Burcu MB; Temiz, Fatih F; Önenli Mungan, Neslihan N; Yüksel, Bilgin B; Topaloğlu, Ali Kemal AK

Publication Date: 2012-09

Variant appearance in text: GNRHR: Q11K

PubMed Link: 22766261

Variant Present in the following documents:

• Main text

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When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).

The Journal Of Clinical Endocrinology And Metabolism

Gianetti, Elena E; Hall, Janet E JE; Au, Margaret G MG; Kaiser, Ursula B UB; Quinton, Richard R; Stewart, Jane A JA; Metzger, Daniel L DL; Pitteloud, Nelly N; Mericq, Veronica V; Merino, Paulina M PM; Levitsky, Lynne L LL; Izatt, Louise L; Lang-Muritano, Mariarosaria M; Fujimoto, Victor Y VY; Dluhy, Robert G RG; Chase, Matthew L ML; Crowley, William F WF; Plummer, Lacey L; Seminara, Stephanie B SB

Publication Date: 2012-09

Variant appearance in text: GNRHR: 31C>A; Q11K

PubMed Link: 22745237

Variant Present in the following documents:

• Main text

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Congenital hypogonadotropic hypogonadism due to GnRH receptor mutations in three brothers reveal sites affecting conformation and coupling.

Plos One

Tello, Javier A JA; Newton, Claire L CL; Bouligand, Jerome J; Guiochon-Mantel, Anne A; Millar, Robert P RP; Young, Jacques J

Publication Date: 2012

Variant appearance in text: GNRHR: Gln11Lys

PubMed Link: 22679506

Variant Present in the following documents:

• Main text
• pone.0038456.pdf

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G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease.

Molecular And Cellular Endocrinology

Noel, Sekoni D SD; Kaiser, Ursula B UB

Publication Date: 2011-10-22

Variant appearance in text: GNRHR: Gln11Lys

PubMed Link: 21736917

Variant Present in the following documents:

• Main text

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Genotype and phenotype of patients with gonadotropin-releasing hormone receptor mutations.

Frontiers Of Hormone Research

Kim, Hyung-Goo HG; Pedersen-White, Jennifer J; Bhagavath, Balasubramanian B; Layman, Lawrence C LC

Publication Date: 2010

Variant appearance in text: GNRHR: Q11K

PubMed Link: 20389088

Variant Present in the following documents:

• Main text

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