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: rs885993

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs885993

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.

American Journal Of Human Genetics

Radmanesh, Farid F; Caglayan, Ahmet Okay AO; Silhavy, Jennifer L JL; Yilmaz, Cahide C; Cantagrel, Vincent V; Omar, Tarek T; Rosti, Başak B; Kaymakcalan, Hande H; Gabriel, Stacey S; Li, Mingfeng M; Sestan, Nenad N; Bilguvar, Kaya K; Dobyns, William B WB; Zaki, Maha S MS; Gunel, Murat M; Gleeson, Joseph G JG

Publication Date: 2013-03-07

Variant appearance in text: rs885993

PubMed Link: 23472759

Variant Present in the following documents:

• Main text

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Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence.

Orphanet Journal Of Rare Diseases

Okada, Tomoo T; Miyashita, Michio M; Fukuhara, Junji J; Sugitani, Masahiko M; Ueno, Takahiro T; Samson-Bouma, Marie-Elisabeth ME; Aggerbeck, Lawrence P LP

Publication Date: 2011-11-21

Variant appearance in text: rs885993

PubMed Link: 22104167

Variant Present in the following documents:

• 1750-1172-6-78.pdf

View BVdb publication page