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: rs394643

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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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: rs394643

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

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: rs394643

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

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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: PLTP: -11-76T>C; rs394643

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs394643

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: PLTP: -11-76T>C; rs394643

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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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: rs394643

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci.

Circulation Research

Jones, Gregory T GT; Tromp, Gerard G; Kuivaniemi, Helena H; Gretarsdottir, Solveig S; Baas, Annette F AF; Giusti, Betti B; Strauss, Ewa E; Van't Hof, Femke N G FN; Webb, Thomas R TR; Erdman, Robert R; Ritchie, Marylyn D MD; Elmore, James R JR; Verma, Anurag A; Pendergrass, Sarah S; Kullo, Iftikhar J IJ; Ye, Zi Z; Peissig, Peggy L PL; Gottesman, Omri O; Verma, Shefali S SS; Malinowski, Jennifer J; Rasmussen-Torvik, Laura J LJ; Borthwick, Kenneth M KM; Smelser, Diane T DT; Crosslin, David R DR; de Andrade, Mariza M; Ryer, Evan J EJ; McCarty, Catherine A CA; Böttinger, Erwin P EP; Pacheco, Jennifer A JA; Crawford, Dana C DC; Carrell, David S DS; Gerhard, Glenn S GS; Franklin, David P DP; Carey, David J DJ; Phillips, Victoria L VL; Williams, Michael J A MJ; Wei, Wenhua W; Blair, Ross R; Hill, Andrew A AA; Vasudevan, Thodor M TM; Lewis, David R DR; Thomson, Ian A IA; Krysa, Jo J; Hill, Geraldine B GB; Roake, Justin J; Merriman, Tony R TR; Oszkinis, Grzegorz G; Galora, Silvia S; Saracini, Claudia C; Abbate, Rosanna R; Pulli, Raffaele R; Pratesi, Carlo C; Saratzis, Athanasios A; Verissimo, Ana R AR; Bumpstead, Suzannah S; Badger, Stephen A SA; Clough, Rachel E RE; Cockerill, Gillian G; Hafez, Hany H; Scott, D Julian A DJ; Futers, T Simon TS; Romaine, Simon P R SP; Bridge, Katherine K; Griffin, Kathryn J KJ; Bailey, Marc A MA; Smith, Alberto A; Thompson, Matthew M MM; van Bockxmeer, Frank M FM; Matthiasson, Stefan E SE; Thorleifsson, Gudmar G; Thorsteinsdottir, Unnur U; Blankensteijn, Jan D JD; Teijink, Joep A W JA; Wijmenga, Cisca C; de Graaf, Jacqueline J; Kiemeney, Lambertus A LA; Lindholt, Jes S JS; Hughes, Anne A; Bradley, Declan T DT; Stirrups, Kathleen K; Golledge, Jonathan J; Norman, Paul E PE; Powell, Janet T JT; Humphries, Steve E SE; Hamby, Stephen E SE; Goodall, Alison H AH; Nelson, Christopher P CP; Sakalihasan, Natzi N; Courtois, Audrey A; Ferrell, Robert E RE; Eriksson, Per P; Folkersen, Lasse L; Franco-Cereceda, Anders A; Eicher, John D JD; Johnson, Andrew D AD; Betsholtz, Christer C; Ruusalepp, Arno A; Franzén, Oscar O; Schadt, Eric E EE; Björkegren, Johan L M JL; Lipovich, Leonard L; Drolet, Anne M AM; Verhoeven, Eric L EL; Zeebregts, Clark J CJ; Geelkerken, Robert H RH; van Sambeek, Marc R MR; van Sterkenburg, Steven M SM; de Vries, Jean-Paul JP; Stefansson, Kari K; Thompson, John R JR; de Bakker, Paul I W PI; Deloukas, Panos P; Sayers, Robert D RD; Harrison, Seamus C SC; van Rij, Andre M AM; Samani, Nilesh J NJ; Bown, Matthew J MJ

Publication Date: 2017-01-20

Variant appearance in text: rs394643

PubMed Link: 27899403

Variant Present in the following documents:

• res-120-341-s002.pdf

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Genetic and nongenetic sources of variation in phospholipid transfer protein activity.

Journal Of Lipid Research

Jarvik, Gail P GP; Rajagopalan, Ramakrishnan R; Rosenthal, Elisabeth A EA; Wolfbauer, Gertrud G; McKinstry, Laura L; Vaze, Aditya A; Brunzell, John J; Motulsky, Arno G AG; Nickerson, Deborah A DA; Heagerty, Patrick J PJ; Wijsman, Ellen M EM; Albers, John J JJ

Publication Date: 2010-05

Variant appearance in text: rs394643

PubMed Link: 19965587

Variant Present in the following documents:

• Main text

View BVdb publication page

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