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: 1260+1G>A

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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Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.

Genes

Napolitano, Filomena F; Dell'Aquila, Milena M; Terracciano, Chiara C; Franzese, Giuseppina G; Gentile, Maria Teresa MT; Piluso, Giulio G; Santoro, Claudia C; Colavito, Davide D; Patanè, Anna A; De Blasiis, Paolo P; Sampaolo, Simone S; Paladino, Simona S; Melone, Mariarosa Anna Beatrice MAB

Publication Date: 2022-06-23

Variant appearance in text: NF1: 1260+1G>A

PubMed Link: 35885913

Variant Present in the following documents:

• genes-13-01130.pdf

View BVdb publication page

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Very rare near-haploid acute lymphoblastic leukemia resistant to immunotherapy and CAR-T therapy in 19-year-old male patient.

Clinical Case Reports

Arpas, Tomas T; Jelinkova, Hana H; Hrabovsky, Stepan S; Orsulova, Martina M; Vrzalova, Zuzana Z; Navrkalova, Veronika V; Brhelova, Eva E; Bryjova, Lenka L; Bulikova, Alena A; Ondrouskova, Eva E; Sejnohova, Marketa M; Folber, Frantisek F; Sedová, Petra P; Mayer, Jiri J; Pospisilova, Sarka S; Jarosova, Marie M; Doubek, Michael M

Publication Date: 2022-03

Variant appearance in text: NF1: 1260+1G>A

PubMed Link: 35280086

Variant Present in the following documents:

• Main text
• CCR3-10-e05545-s001.xlsx, sheet 1
• CCR3-10-e05545.pdf

View BVdb publication page

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Clinical Characteristics and Mutation Spectrum of Neurofibromatosis Type 1 in 27 Turkish Families.

Balkan Medical Journal

Sharifi, Shahrashoub S; Kalaycı, Tuğba T; Palanduz, Şükrü Ş; Öztürk, Şükrü Ş; Cefle, Kıvanç K

Publication Date: 2021-11

Variant appearance in text: NF1: 1260+1G>A; rs267606603

PubMed Link: 34860164

Variant Present in the following documents:

• Main text
• bmj-38-6-365.pdf

View BVdb publication page

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A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.

Nature Communications

Zhang, Yiqun Y; Chen, Fengju F; Donehower, Lawrence A LA; Scheurer, Michael E ME; Creighton, Chad J CJ

Publication Date: 2021-02-10

Variant appearance in text: NF1: 1260+1G>A; rs267606603

PubMed Link: 33568653

Variant Present in the following documents:

• 41467_2021_21081_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.

Oncotarget

Tarlock, Katherine K; Zhong, Shan S; He, Yuting Y; Ries, Rhonda R; Severson, Eric E; Bailey, Mark M; Morley, Samantha S; Balasubramanian, Sohail S; Erlich, Rachel R; Lipson, Doron D; Otto, Geoff A GA; Vergillo, Jo-Anne JA; Kolb, E Anders EA; Ross, Jeffrey S JS; Mughal, Tariq T; Stephens, Philip J PJ; Miller, Vincent V; Meshinchi, Soheil S; He, Jie J

Publication Date: 2018-05-29

Variant appearance in text: NF1: 1260+1G>A

PubMed Link: 29899868

Variant Present in the following documents:

• oncotarget-09-26417-s005.xlsx, sheet 1

View BVdb publication page

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Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

Human Genomics

Laycock-van Spyk, Sebastian S; Thomas, Nick N; Cooper, David N DN; Upadhyaya, Meena M

Publication Date: 2011-10

Variant appearance in text: NF1: 1260+1G>A

PubMed Link: 22155606

Variant Present in the following documents:

• Main text

View BVdb publication page

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