Publications:

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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: rs2277632

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs2277632

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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COL1A1 and FGFR2 Single-Nucleotide Polymorphisms Found in Class II and Class III Skeletal Malocclusions in Javanese Population.

European Journal Of Dentistry

Ardani, I Gusti Aju Wahju IGAW; Budipramana, Melisa M; Rachmawati, Erlina E; Nugraha, Alexander Patera AP; Ardana, I Kade Karisma Gita IKKG; Budhy, Theresia Indah TI; Hassan, Rozita R; Listyorini, Dwi D; Sarno, Riyanarto R

Publication Date: 2022-06-07

Variant appearance in text: rs2277632

PubMed Link: 35672017

Variant Present in the following documents:

• Main text

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: COL1A1: 3815-35T>C; rs2277632

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: COL1A1: 3815-35T>C; rs2277632

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 1

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: COL1A1: 3815-35T>C; rs2277632

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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NGS analysis in Marfan syndrome spectrum: Combination of rare and common genetic variants to improve genotype-phenotype correlation analysis.

Plos One

Gentilini, Davide D; Oliveri, Antonino A; Fazia, Teresa T; Pini, Alessandro A; Marelli, Susan S; Bernardinelli, Luisa L; Di Blasio, Anna Maria AM

Publication Date: 2019

Variant appearance in text: rs2277632

PubMed Link: 31536524

Variant Present in the following documents:

• Main text
• pone.0222506.pdf

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: COL1A1: 3815-35T>C; rs2277632

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page

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Candidate gene analysis in israeli soldiers with stress fractures.

Journal Of Sports Science & Medicine

Yanovich, Ran R; Friedman, Eitan E; Milgrom, Roni R; Oberman, Bernice B; Freedman, Laurence L; Moran, Daniel S DS

Publication Date: 2012

Variant appearance in text: rs2277632

PubMed Link: 24149131

Variant Present in the following documents:

• Main text

View BVdb publication page

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No association between polymorphisms and haplotypes of COL1A1 and COL1A2 genes and osteoporotic fracture in postmenopausal Chinese women.

Acta Pharmacologica Sinica

Hu, Wei-wei WW; He, Jin-wei JW; Zhang, Hao H; Wang, Chun C; Gu, Jie-mei JM; Yue, Hua H; Ke, Yao-hua YH; Hu, Yun-qiu YQ; Fu, Wen-zhen WZ; Li, Miao M; Liu, Yu-juan YJ; Zhang, Zhen-lin ZL

Publication Date: 2011-07

Variant appearance in text: rs2277632

PubMed Link: 21602843

Variant Present in the following documents:

• Main text

View BVdb publication page

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Missing call bias in high-throughput genotyping.

Bmc Genomics

Fu, Wenqing W; Wang, Yi Y; Wang, Ying Y; Li, Rui R; Lin, Rong R; Jin, Li L

Publication Date: 2009-03-13

Variant appearance in text: rs2277632

PubMed Link: 19284636

Variant Present in the following documents:

• Main text

View BVdb publication page

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Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).

Bmc Genetics

Ekstrøm, Per O PO; Bjørheim, Jens J; Thilly, William G WG

Publication Date: 2007-08-14

Variant appearance in text: rs2277632

PubMed Link: 17697348

Variant Present in the following documents:

• Main text
• 1471-2156-8-54.pdf

View BVdb publication page

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