Publications:

Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs7215555

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene.

Genes

van Rooij, Iris Alm IA; Ludwig, Kerstin U KU; Welzenbach, Julia J; Ishorst, Nina N; Thonissen, Michelle M; Galesloot, Tessel E TE; Ongkosuwito, Edwin E; Bergé, Stefaan J SJ; Aldhorae, Khalid K; Rojas-Martinez, Augusto A; Kiemeney, Lambertus Alm LA; Vermeesch, Joris Robert JR; Brunner, Han H; Roeleveld, Nel N; Devriendt, Koen K; Dormaar, Titiaan T; Hens, Greet G; Knapp, Michael M; Carels, Carine C; Mangold, Elisabeth E

Publication Date: 2019-12-07

Variant appearance in text: rs7215555

PubMed Link: 31817908

Variant Present in the following documents:

• Main text
• genes-10-01023.pdf

View BVdb publication page

Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.

Human Molecular Genetics

Sabbagh, Audrey A; Pasmant, Eric E; Laurendeau, Ingrid I; Parfait, Béatrice B; Barbarot, Sébastien S; Guillot, Bernard B; Combemale, Patrick P; Ferkal, Salah S; Vidaud, Michel M; Aubourg, Patrick P; Vidaud, Dominique D; Wolkenstein, Pierre P; ,

Publication Date: 2009-08-01

Variant appearance in text: rs7215555

PubMed Link: 19417008

Variant Present in the following documents:

• Main text

View BVdb publication page