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: TNFRSF11A: 730G>T; Ala244Ser

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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RANKL biology: bone metabolism, the immune system, and beyond.

Inflammation And Regeneration

Ono, Takehito T; Hayashi, Mikihito M; Sasaki, Fumiyuki F; Nakashima, Tomoki T

Publication Date: 2020

Variant appearance in text: TNFRSF11A: 730G>T

PubMed Link: 32047573

Variant Present in the following documents:

• Main text
• 41232_2019_Article_111.pdf

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Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Sheppard, Sarah S; Biswas, Sawona S; Li, Mindy H MH; Jayaraman, Vijayakumar V; Slack, Ian I; Romasko, Edward J EJ; Sasson, Ariella A; Brunton, Joshua J; Rajagopalan, Ramakrishnan R; Sarmady, Mahdi M; Abrudan, Jenica L JL; Jairam, Sowmya S; DeChene, Elizabeth T ET; Ying, Xiahoan X; Choi, Jiwon J; Wilkens, Alisha A; Raible, Sarah E SE; Scarano, Maria I MI; Santani, Avni A; Pennington, Jeffrey W JW; Luo, Minjie M; Conlin, Laura K LK; Devkota, Batsal B; Dulik, Matthew C MC; Spinner, Nancy B NB; Krantz, Ian D ID

Publication Date: 2018-12

Variant appearance in text: TNFRSF11A: 730G>T

PubMed Link: 29907799

Variant Present in the following documents:

• 41436_2018_4_MOESM3_ESM.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: TNFRSF11A: A244S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.

American Journal Of Human Genetics

Guerrini, Matteo M MM; Sobacchi, Cristina C; Cassani, Barbara B; Abinun, Mario M; Kilic, Sara S SS; Pangrazio, Alessandra A; Moratto, Daniele D; Mazzolari, Evelina E; Clayton-Smith, Jill J; Orchard, Paul P; Coxon, Fraser P FP; Helfrich, Miep H MH; Crockett, Julie C JC; Mellis, David D; Vellodi, Ashok A; Tezcan, Ilhan I; Notarangelo, Luigi D LD; Rogers, Michael J MJ; Vezzoni, Paolo P; Villa, Anna A; Frattini, Annalisa A

Publication Date: 2008-07

Variant appearance in text:

PubMed Link: 18606301

Variant Present in the following documents:

• Main text

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