Publications:

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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: APPL1: 280G>A; Asp94Asn

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options.

Journal Of Personalized Medicine

Younis, Hazar H; Ha, Se Eun SE; Jorgensen, Brian G BG; Verma, Arushi A; Ro, Seungil S

Publication Date: 2022-10-25

Variant appearance in text: APPL1: Asp94Asn

PubMed Link: 36573710

Variant Present in the following documents:

• jpm-12-01762.pdf

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Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young.

International Journal Of Molecular Sciences

Sousa, Madalena M; Rego, Teresa T; Armas, Jácome Bruges JB

Publication Date: 2022-10-26

Variant appearance in text: APPL1: 280G>A; Asp94Asn

PubMed Link: 36361703

Variant Present in the following documents:

• Main text
• ijms-23-12910.pdf

View BVdb publication page

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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: APPL1: D94N; rs796065047

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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Analysis of APPL1 Gene Polymorphisms in Patients with a Phenotype of Maturity Onset Diabetes of the Young.

Journal Of Personalized Medicine

Ivanoshchuk, Dinara E DE; Shakhtshneider, Elena V EV; Rymar, Oksana D OD; Ovsyannikova, Alla K AK; Mikhailova, Svetlana V SV; Orlov, Pavel S PS; Ragino, Yuliya I YI; Voevoda, Mikhail I MI

Publication Date: 2020-08-25

Variant appearance in text: APPL1: Asp94Asn; rs796065047

PubMed Link: 32854233

Variant Present in the following documents:

• Main text
• jpm-10-00100.pdf

View BVdb publication page

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Genetic Testing of Maturity-Onset Diabetes of the Young Current Status and Future Perspectives.

Frontiers In Endocrinology

Firdous, Parveena P; Nissar, Kamran K; Ali, Sajad S; Ganai, Bashir Ahmad BA; Shabir, Uzma U; Hassan, Toyeeba T; Masoodi, Shariq Rashid SR

Publication Date: 2018

Variant appearance in text: APPL1: D94N

PubMed Link: 29867778

Variant Present in the following documents:

• Main text
• fendo-09-00253.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: APPL1: D94N

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page

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Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus.

American Journal Of Human Genetics

Prudente, Sabrina S; Jungtrakoon, Prapaporn P; Marucci, Antonella A; Ludovico, Ornella O; Buranasupkajorn, Patinut P; Mazza, Tommaso T; Hastings, Timothy T; Milano, Teresa T; Morini, Eleonora E; Mercuri, Luana L; Bailetti, Diego D; Mendonca, Christine C; Alberico, Federica F; Basile, Giorgio G; Romani, Marta M; Miccinilli, Elide E; Pizzuti, Antonio A; Carella, Massimo M; Barbetti, Fabrizio F; Pascarella, Stefano S; Marchetti, Piero P; Trischitta, Vincenzo V; Di Paola, Rosa R; Doria, Alessandro A

Publication Date: 2015-07-02

Variant appearance in text: APPL1: 280G>A

PubMed Link: 26073777

Variant Present in the following documents:

• Main text

View BVdb publication page

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