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: 1185+1G>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Splicing-Disrupting Mutations in Inherited Predisposition to Solid Pediatric Cancer.

Cancers

Alba-Pavón, Piedad P; Alaña, Lide L; Astigarraga, Itziar I; Villate, Olatz O

Publication Date: 2022-12-02

Variant appearance in text: NF1: 1185+1G>A

PubMed Link: 36497448

Variant Present in the following documents:

• Main text
• cancers-14-05967.pdf

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Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology

Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ

Publication Date: 2022-10-11

Variant appearance in text: NF1: 1185+1G>A

PubMed Link: 36219477

Variant Present in the following documents:

• PATH-259-56-s004.xlsx, sheet 2

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The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.

Nature Communications

Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM

Publication Date: 2022-06-29

Variant appearance in text: NF1: 1185+1G>A

PubMed Link: 35768438

Variant Present in the following documents:

• 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1

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Generation of human induced pluripotent stem cell-derived cerebral organoids for cellular and molecular characterization.

Star Protocols

Anastasaki, Corina C; Wilson, Anna F AF; Chen, Alexander S AS; Wegscheid, Michelle L ML; Gutmann, David H DH

Publication Date: 2022-03-18

Variant appearance in text: NF1: 1185+1G>A

PubMed Link: 35199037

Variant Present in the following documents:

• Main text
• main.pdf

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Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients.

Cancers

Sorrentino, Ugo U; Bellonzi, Silvia S; Mozzato, Chiara C; Brasson, Valeria V; Toldo, Irene I; Parrozzani, Raffaele R; Clementi, Maurizio M; Cassina, Matteo M; Trevisson, Eva E

Publication Date: 2021-12-17

Variant appearance in text: NF1: 1185+1G>A

PubMed Link: 34944956

Variant Present in the following documents:

• cancers-13-06336.pdf

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Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.

Genes, Chromosomes & Cancer

Riva, Matteo M; Martorana, Davide D; Uliana, Vera V; Caleffi, Edoardo E; Boschi, Elena E; Garavelli, Livia L; Ponti, Giovanni G; Sangiorgi, Luca L; Graziano, Claudio C; Bigoni, Stefania S; Rocchetti, Luca Maria LM; Madeo, Simona S; Soli, Fiorenza F; Grosso, Enrico E; Carli, Diana D; Goldoni, Matteo M; Pisani, Francesco F; Percesepe, Antonio A

Publication Date: 2022-01

Variant appearance in text: NF1: 1185+1G>A

PubMed Link: 34427956

Variant Present in the following documents:

• Main text
• GCC-61-10.pdf

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Patient-derived iPSC-cerebral organoid modeling of the 17q11.2 microdeletion syndrome establishes CRLF3 as a critical regulator of neurogenesis.

Cell Reports

Wegscheid, Michelle L ML; Anastasaki, Corina C; Hartigan, Kelly A KA; Cobb, Olivia M OM; Papke, Jason B JB; Traber, Jennifer N JN; Morris, Stephanie M SM; Gutmann, David H DH

Publication Date: 2021-07-06

Variant appearance in text: NF1: 1185+1G>A

PubMed Link: 34233200

Variant Present in the following documents:

• Main text
• nihms-1722138.pdf
• NIHMS1722138-supplement-2.pdf
• NIHMS1722138-supplement-1.pdf

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Human iPSC-Derived Neurons and Cerebral Organoids Establish Differential Effects of Germline NF1 Gene Mutations.

Stem Cell Reports

Anastasaki, Corina C; Wegscheid, Michelle L ML; Hartigan, Kelly K; Papke, Jason B JB; Kopp, Nathan D ND; Chen, Jiayang J; Cobb, Olivia O; Dougherty, Joseph D JD; Gutmann, David H DH

Publication Date: 2020-04-14

Variant appearance in text: NF1: 1185+1G>A

PubMed Link: 32243842

Variant Present in the following documents:

• Main text
• mmc2.pdf
• main.pdf

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NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene

Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S

Publication Date: 2020-04

Variant appearance in text: NF1: 1185+1G>A

PubMed Link: 32055024

Variant Present in the following documents:

• 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: NF1: 1185+1G>A

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research

Paria, Nandina N; Cho, Tae-Joon TJ; Choi, In Ho IH; Kamiya, Nobuhiro N; Kayembe, Kay K; Mao, Rong R; Margraf, Rebecca L RL; Obermosser, Gerlinde G; Oxendine, Ila I; Sant, David W DW; Song, Mi Hyun MH; Stevenson, David A DA; Viskochil, David H DH; Wise, Carol A CA; Kim, Harry K W HK; Rios, Jonathan J JJ

Publication Date: 2014-12

Variant appearance in text: NF1: 1185+1G>A

PubMed Link: 24932921

Variant Present in the following documents:

• Main text

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