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: NF1: 2693T>C; Leu898Pro

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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Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Cancers

Melloni, Giulia G; Eoli, Marica M; Cesaretti, Claudia C; Bianchessi, Donatella D; Ibba, Maria Cristina MC; Esposito, Silvia S; Scuvera, Giulietta G; Morcaldi, Guido G; Micheli, Roberto R; Piozzi, Elena E; Avignone, Sabrina S; Chiapparini, Luisa L; Pantaleoni, Chiara C; Natacci, Federica F; Finocchiaro, Gaetano G; Saletti, Veronica V

Publication Date: 2019-11-21

Variant appearance in text: NF1: 2693T>C; Leu898Pro

PubMed Link: 31766501

Variant Present in the following documents:

• Main text
• cancers-11-01838.pdf

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: NF1: 2693T>C; L898P

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study.

Orphanet Journal Of Rare Diseases

Cannon, Ashley A; Chen, Mei-Jan MJ; Li, Peng P; Boyd, Kevin P KP; Theos, Amy A; Redden, David T DT; Korf, Bruce B

Publication Date: 2018-02-07

Variant appearance in text: NF1: 2693T>C; L898P

PubMed Link: 29415745

Variant Present in the following documents:

• Main text
• 13023_2018_Article_772.pdf

View BVdb publication page

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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

American Journal Of Human Genetics

Koczkowska, Magdalena M; Chen, Yunjia Y; Callens, Tom T; Gomes, Alicia A; Sharp, Angela A; Johnson, Sherrell S; Hsiao, Meng-Chang MC; Chen, Zhenbin Z; Balasubramanian, Meena M; Barnett, Christopher P CP; Becker, Troy A TA; Ben-Shachar, Shay S; Bertola, Debora R DR; Blakeley, Jaishri O JO; Burkitt-Wright, Emma M M EMM; Callaway, Alison A; Crenshaw, Melissa M; Cunha, Karin S KS; Cunningham, Mitch M; D'Agostino, Maria D MD; Dahan, Karin K; De Luca, Alessandro A; Destrée, Anne A; Dhamija, Radhika R; Eoli, Marica M; Evans, D Gareth R DGR; Galvin-Parton, Patricia P; George-Abraham, Jaya K JK; Gripp, Karen W KW; Guevara-Campos, Jose J; Hanchard, Neil A NA; Hernández-Chico, Concepcion C; Immken, LaDonna L; Janssens, Sandra S; Jones, Kristi J KJ; Keena, Beth A BA; Kochhar, Aaina A; Liebelt, Jan J; Martir-Negron, Arelis A; Mahoney, Maurice J MJ; Maystadt, Isabelle I; McDougall, Carey C; McEntagart, Meriel M; Mendelsohn, Nancy N; Miller, David T DT; Mortier, Geert G; Morton, Jenny J; Pappas, John J; Plotkin, Scott R SR; Pond, Dinel D; Rosenbaum, Kenneth K; Rubin, Karol K; Russell, Laura L; Rutledge, Lane S LS; Saletti, Veronica V; Schonberg, Rhonda R; Schreiber, Allison A; Seidel, Meredith M; Siqveland, Elizabeth E; Stockton, David W DW; Trevisson, Eva E; Ullrich, Nicole J NJ; Upadhyaya, Meena M; van Minkelen, Rick R; Verhelst, Helene H; Wallace, Margaret R MR; Yap, Yoon-Sim YS; Zackai, Elaine E; Zonana, Jonathan J; Zurcher, Vickie V; Claes, Kathleen K; Martin, Yolanda Y; Korf, Bruce R BR; Legius, Eric E; Messiaen, Ludwine M LM

Publication Date: 2018-01-04

Variant appearance in text: NF1: 2693T>C; Leu898Pro

PubMed Link: 29290338

Variant Present in the following documents:

• mmc3.pdf
• mmc1.pdf

View BVdb publication page

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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: NF1: 2693T>C; L898P

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s003.xlsx, sheet 1
• pone.0170843.s004.xlsx, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: NF1: L898P; rs199474786

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: NF1: L898P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Molecular Systems Biology

Kiel, Christina C; Serrano, Luis L

Publication Date: 2014-05-06

Variant appearance in text: NF1: L898P

PubMed Link: 24803665

Variant Present in the following documents:

• MSB-10-5-727-s13.xls, sheet 1

View BVdb publication page

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Phenotypic variability among café-au-lait macules in neurofibromatosis type 1.

Journal Of The American Academy Of Dermatology

Boyd, Kevin P KP; Gao, Liyan L; Feng, Rui R; Beasley, Mark M; Messiaen, Ludwine L; Korf, Bruce R BR; Theos, Amy A

Publication Date: 2010-09

Variant appearance in text: NF1: 2693T>C; L898P

PubMed Link: 20605257

Variant Present in the following documents:

• Main text

View BVdb publication page

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