Publications:

---

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: NBAS: 686dup; Ser230fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Clinical implementation of RNA sequencing for Mendelian disease diagnostics.

Genome Medicine

Yépez, Vicente A VA; Gusic, Mirjana M; Kopajtich, Robert R; Mertes, Christian C; Smith, Nicholas H NH; Alston, Charlotte L CL; Ban, Rui R; Beblo, Skadi S; Berutti, Riccardo R; Blessing, Holger H; Ciara, Elżbieta E; Distelmaier, Felix F; Freisinger, Peter P; Häberle, Johannes J; Hayflick, Susan J SJ; Hempel, Maja M; Itkis, Yulia S YS; Kishita, Yoshihito Y; Klopstock, Thomas T; Krylova, Tatiana D TD; Lamperti, Costanza C; Lenz, Dominic D; Makowski, Christine C; Mosegaard, Signe S; Müller, Michaela F MF; Muñoz-Pujol, Gerard G; Nadel, Agnieszka A; Ohtake, Akira A; Okazaki, Yasushi Y; Procopio, Elena E; Schwarzmayr, Thomas T; Smet, Joél J; Staufner, Christian C; Stenton, Sarah L SL; Strom, Tim M TM; Terrile, Caterina C; Tort, Frederic F; Van Coster, Rudy R; Vanlander, Arnaud A; Wagner, Matias M; Xu, Manting M; Fang, Fang F; Ghezzi, Daniele D; Mayr, Johannes A JA; Piekutowska-Abramczuk, Dorota D; Ribes, Antonia A; Rötig, Agnès A; Taylor, Robert W RW; Wortmann, Saskia B SB; Murayama, Kei K; Meitinger, Thomas T; Gagneur, Julien J; Prokisch, Holger H

Publication Date: 2022-04-05

Variant appearance in text: NBAS: 686dup; Ser230Glnfs*4

PubMed Link: 35379322

Variant Present in the following documents:

• 13073_2022_1019_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

---

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: rs759315662

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

---

Case Report: Pediatric Recurrent Acute Liver Failure Caused by Neuroblastoma Amplified Sequence (NBAS) Gene Mutations.

Frontiers In Pediatrics

Jiang, Bingxin B; Xiao, Fangfei F; Li, Xiaolu X; Xiao, Yongmei Y; Wang, Yizhong Y; Zhang, Ting T

Publication Date: 2020

Variant appearance in text: NBAS: 686dup; Ser230Glnfs

PubMed Link: 33520894

Variant Present in the following documents:

• Main text
• fped-08-607005.pdf

View BVdb publication page

---

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: rs759315662

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

---

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.

American Journal Of Human Genetics

Haack, Tobias B TB; Staufner, Christian C; Köpke, Marlies G MG; Straub, Beate K BK; Kölker, Stefan S; Thiel, Christian C; Freisinger, Peter P; Baric, Ivo I; McKiernan, Patrick J PJ; Dikow, Nicola N; Harting, Inga I; Beisse, Flemming F; Burgard, Peter P; Kotzaeridou, Urania U; Kühr, Joachim J; Himbert, Urban U; Taylor, Robert W RW; Distelmaier, Felix F; Vockley, Jerry J; Ghaloul-Gonzalez, Lina L; Zschocke, Johannes J; Kremer, Laura S LS; Graf, Elisabeth E; Schwarzmayr, Thomas T; Bader, Daniel M DM; Gagneur, Julien J; Wieland, Thomas T; Terrile, Caterina C; Strom, Tim M TM; Meitinger, Thomas T; Hoffmann, Georg F GF; Prokisch, Holger H

Publication Date: 2015-07-02

Variant appearance in text: NBAS: 686dup; Ser230Glnfs

PubMed Link: 26073778

Variant Present in the following documents:

• Main text
• mmc2.pdf
• main.pdf

View BVdb publication page

---