Publications:

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: 3449C>T

PubMed Link: 34233200

Variant Present in the following documents:

• NIHMS1722138-supplement-2.pdf
• NIHMS1722138-supplement-1.pdf

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TP53, ATRX alterations, and low tumor mutation load feature IDH-wildtype giant cell glioblastoma despite exceptional ultra-mutated tumors.

Neuro-Oncology Advances

Cantero, Diana D; Mollejo, Manuela M; Sepúlveda, Juan M JM; D'Haene, Nicky N; Gutiérrez-Guamán, Myriam J MJ; Rodríguez de Lope, Ángel Á; Fiaño, Concepción C; Castresana, Javier S JS; Lebrun, Laetitia L; Rey, Juan A JA; Salmon, Isabelle I; Meléndez, Bárbara B; Hernández-Laín, Aurelio A

Publication Date: 2020

Variant appearance in text: NF1: 3449C>T; Ser1150Leu

PubMed Link: 32642724

Variant Present in the following documents:

• vdz059_suppl_suplementary_table_2.xlsx, sheet 1

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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: S1150L

PubMed Link: 24803665

Variant Present in the following documents:

• MSB-10-5-727-s13.xls, sheet 1

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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: Ser1150Leu

PubMed Link: 22155606

Variant Present in the following documents:

• Main text
• 1479-7364-5-6-623.pdf

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: NF1: S1150L

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page