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: rs7956957

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs7956957

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

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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: rs7956957

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

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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: rs7956957

PubMed Link: 30319441

Variant Present in the following documents:

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

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs7956957

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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The association between LRP-1 variants and chylomicron uptake after a high fat meal.

Nutrition, Metabolism, And Cardiovascular Diseases : Nmcd

Frazier-Wood, A C AC; Kabagambe, E K EK; Wojczynski, M K MK; Borecki, I B IB; Tiwari, H K HK; Smith, C E CE; Ordovas, J M JM; Arnett, D K DK

Publication Date: 2013-11

Variant appearance in text: rs7956957

PubMed Link: 23484911

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Interaction between Pesticide Use and Genetic Variants Involved in Lipid Metabolism on Prostate Cancer Risk.

Journal Of Cancer Epidemiology

Andreotti, Gabriella G; Koutros, Stella S; Berndt, Sonja I SI; Hughes Barry, Kathryn K; Hou, Lifang L; Hoppin, Jane A JA; Sandler, Dale P DP; Lubin, Jay H JH; Burdette, Laurie A LA; Yuenger, Jeffrey J; Yeager, Meredith M; Beane Freeman, Laura E LE; Alavanja, Michael C R MC

Publication Date: 2012

Variant appearance in text: rs7956957

PubMed Link: 22919386

Variant Present in the following documents:

• Main text
• JCE2012-358076.pdf

View BVdb publication page

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LRP-1 variation is not associated with risk of Alzheimer's disease.

International Journal Of Molecular Epidemiology And Genetics

Chalmers, Katy A KA; Barker, Rachel R; Passmore, Peter A PA; Panza, Francesco F; Seripa, Davide D; Solfrizzi, Vincenzo V; Love, Seth S; Prince, Jonathan A JA; Kehoe, Patrick G PG

Publication Date: 2010-02-20

Variant appearance in text: rs7956957

PubMed Link: 21537384

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.

Human Molecular Genetics

Drenos, Fotios F; Talmud, Philippa J PJ; Casas, Juan P JP; Smeeth, Liam L; Palmen, Jutta J; Humphries, Steve E SE; Hingorani, Aroon D AD

Publication Date: 2009-06-15

Variant appearance in text: rs7956957

PubMed Link: 19336475

Variant Present in the following documents:

• ddp159_1.pdf

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An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics

Edwards, Todd L TL; Pericak-Vance, Margaret M; Gilbert, Johnny R JR; Haines, Jonathan L JL; Martin, Eden R ER; Ritchie, Marylyn D MD

Publication Date: 2009-07-05

Variant appearance in text: rs7956957

PubMed Link: 19105203

Variant Present in the following documents:

• Main text

View BVdb publication page

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Confronting complexity in late-onset Alzheimer disease: application of two-stage analysis approach addressing heterogeneity and epistasis.

Genetic Epidemiology

Thornton-Wells, Tricia A TA; Moore, Jason H JH; Martin, Eden R ER; Pericak-Vance, Margaret A MA; Haines, Jonathan L JL

Publication Date: 2008-04

Variant appearance in text: rs7956957

PubMed Link: 18076107

Variant Present in the following documents:

• Main text

View BVdb publication page

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