Publications:

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Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series.

International Journal Of Molecular Sciences

Cannarella, Rossella R; Gusmano, Carmelo C; Condorelli, Rosita A RA; Bernini, Andrea A; Kaftalli, Jurgen J; Maltese, Paolo Enrico PE; Paolacci, Stefano S; Dautaj, Astrit A; Marceddu, Giuseppe G; Bertelli, Matteo M; La Vignera, Sandro S; Calogero, Aldo E AE

Publication Date: 2023-04-18

Variant appearance in text: PROK2: 163del; Ile55*

PubMed Link: 37108593

Variant Present in the following documents:

• Main text
• ijms-24-07428.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: PROK2: 163del

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: PROK2: 163delA; rs554675432

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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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

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

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: PROK2: 163delA

PubMed Link: 31980526

Variant Present in the following documents:

• Main text
• pnas.201909378.pdf

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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: PROK2: 163delA; Ile55fs; rs554675432

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: PROK2: 163delA; I55X

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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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: PROK2: 163delA; Ile55fs

PubMed Link: 29419413

Variant Present in the following documents:

• eje-178-377-t002.pdf

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A variant by any name: quantifying annotation discordance across tools and clinical databases.

Genome Medicine

Yen, Jennifer L JL; Garcia, Sarah S; Montana, Aldrin A; Harris, Jason J; Chervitz, Stephen S; Morra, Massimo M; West, John J; Chen, Richard R; Church, Deanna M DM

Publication Date: 2017-01-26

Variant appearance in text: PROK2: 163delA; Ile55Ter

PubMed Link: 28122645

Variant Present in the following documents:

• Main text
• 13073_2016_Article_396.pdf

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Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.

The Journal Of Clinical Endocrinology And Metabolism

Cole, Lindsay W LW; Sidis, Yisrael Y; Zhang, ChengKang C; Quinton, Richard R; Plummer, Lacey L; Pignatelli, Duarte D; Hughes, Virginia A VA; Dwyer, Andrew A AA; Raivio, Taneli T; Hayes, Frances J FJ; Seminara, Stephanie B SB; Huot, Celine C; Alos, Nathalie N; Speiser, Phyllis P; Takeshita, Akira A; Van Vliet, Guy G; Pearce, Simon S; Crowley, William F WF; Zhou, Qun-Yong QY; Pitteloud, Nelly N

Publication Date: 2008-09

Variant appearance in text: PROK2: 163delA; I55fs

PubMed Link: 18559922

Variant Present in the following documents:

• Main text

View BVdb publication page

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