Publications:

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.

Cancers

Ognibene, Marzia M; Scala, Marcello M; Iacomino, Michele M; Schiavetti, Irene I; Madia, Francesca F; Traverso, Monica M; Guerrisi, Sara S; Di Duca, Marco M; Caroli, Francesco F; Baldassari, Simona S; Tappino, Barbara B; Romano, Ferruccio F; Uva, Paolo P; Vozzi, Diego D; Chelleri, Cristina C; Piatelli, Gianluca G; Diana, Maria Cristina MC; Zara, Federico F; Capra, Valeria V; Pavanello, Marco M; De Marco, Patrizia P

Publication Date: 2023-03-22

Variant appearance in text: NF1: 2536G>C; Ala846Pro

PubMed Link: 36980803

Variant Present in the following documents:

• cancers-15-01916.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: NF1: 2536G>C; Ala846Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.

Cancers

Scala, Marcello M; Schiavetti, Irene I; Madia, Francesca F; Chelleri, Cristina C; Piccolo, Gianluca G; Accogli, Andrea A; Riva, Antonella A; Salpietro, Vincenzo V; Bocciardi, Renata R; Morcaldi, Guido G; Di Duca, Marco M; Caroli, Francesco F; Verrico, Antonio A; Milanaccio, Claudia C; Viglizzo, Gianmaria G; Traverso, Monica M; Baldassari, Simona S; Scudieri, Paolo P; Iacomino, Michele M; Piatelli, Gianluca G; Minetti, Carlo C; Striano, Pasquale P; Garrè, Maria Luisa ML; De Marco, Patrizia P; Diana, Maria Cristina MC; Capra, Valeria V; Pavanello, Marco M; Zara, Federico F

Publication Date: 2021-04-14

Variant appearance in text: NF1: Ala846Pro

PubMed Link: 33919865

Variant Present in the following documents:

• Main text

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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: 2536G>C; Ala846Pro

PubMed Link: 29290338

Variant Present in the following documents:

• Main text
• mmc3.pdf
• main.pdf
• mmc1.pdf
• mmc2.xlsx, sheet 1

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