Publications:

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Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.

Cell Research

Zhang, Fan F; Zhang, Qilin Q; Zhu, Jiajun J; Yao, Boyuan B; Ma, Chi C; Qiao, Nidan N; He, Shiman S; Ye, Zhao Z; Wang, Yunzhi Y; Han, Rui R; Feng, Jinwen J; Wang, Yongfei Y; Qin, Zhaoyu Z; Ma, Zengyi Z; Li, Kai K; Zhang, Yichao Y; Tian, Sha S; Chen, Zhengyuan Z; Tan, Subei S; Wu, Yue Y; Ran, Peng P; Wang, Ye Y; Ding, Chen C; Zhao, Yao Y

Publication Date: 2022-12

Variant appearance in text: rs6040055

PubMed Link: 36307579

Variant Present in the following documents:

• 41422_2022_736_MOESM10_ESM.xlsx, sheet 3

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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: rs6040055

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: rs6040055

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

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: rs6040055

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: rs6040055

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 1

View BVdb publication page

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Genomic approaches in the search for molecular biomarkers in chronic kidney disease.

Journal Of Translational Medicine

Cañadas-Garre, M M; Anderson, K K; McGoldrick, J J; Maxwell, A P AP; McKnight, A J AJ

Publication Date: 2018-10-25

Variant appearance in text: rs6040055

PubMed Link: 30359254

Variant Present in the following documents:

• Main text
• 12967_2018_Article_1664.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: rs6040055

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_7.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: rs6040055

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs6040055

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2
• mmc3.xlsx, sheet 1

View BVdb publication page

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Functional genomic annotation of genetic risk loci highlights inflammation and epithelial biology networks in CKD.

Journal Of The American Society Of Nephrology : Jasn

Ledo, Nora N; Ko, Yi-An YA; Park, Ae-Seo Deok AS; Kang, Hyun-Mi HM; Han, Sang-Youb SY; Choi, Peter P; Susztak, Katalin K

Publication Date: 2015-03

Variant appearance in text: rs6040055

PubMed Link: 25231882

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.

Plos Genetics

Gudbjartsson, Daniel F DF; Holm, Hilma H; Indridason, Olafur S OS; Thorleifsson, Gudmar G; Edvardsson, Vidar V; Sulem, Patrick P; de Vegt, Femmie F; d'Ancona, Frank C H FC; den Heijer, Martin M; Wetzels, Jack F M JF; Franzson, Leifur L; Rafnar, Thorunn T; Kristjansson, Kristleifur K; Bjornsdottir, Unnur S US; Eyjolfsson, Gudmundur I GI; Kiemeney, Lambertus A LA; Kong, Augustine A; Palsson, Runolfur R; Thorsteinsdottir, Unnur U; Stefansson, Kari K

Publication Date: 2010-07-29

Variant appearance in text: rs6040055

PubMed Link: 20686651

Variant Present in the following documents:

• Main text
• pgen.1001039.pdf

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A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level.

Bmc Medical Genetics

Pattaro, Cristian C; De Grandi, Alessandro A; Vitart, Veronique V; Hayward, Caroline C; Franke, Andre A; Aulchenko, Yurii S YS; Johansson, Asa A; Wild, Sarah H SH; Melville, Scott A SA; Isaacs, Aaron A; Polasek, Ozren O; Ellinghaus, David D; Kolcic, Ivana I; Nöthlings, Ute U; Zgaga, Lina L; Zemunik, Tatijana T; Gnewuch, Carsten C; Schreiber, Stefan S; Campbell, Susan S; Hastie, Nick N; Boban, Mladen M; Meitinger, Thomas T; Oostra, Ben A BA; Riegler, Peter P; Minelli, Cosetta C; Wright, Alan F AF; Campbell, Harry H; van Duijn, Cornelia M CM; Gyllensten, Ulf U; Wilson, James F JF; Krawczak, Michael M; Rudan, Igor I; Pramstaller, Peter P PP; ,

Publication Date: 2010-03-11

Variant appearance in text: rs6040055

PubMed Link: 20222955

Variant Present in the following documents:

• Main text
• 1471-2350-11-41.pdf

View BVdb publication page

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Multiple loci associated with indices of renal function and chronic kidney disease.

Nature Genetics

Köttgen, Anna A; Glazer, Nicole L NL; Dehghan, Abbas A; Hwang, Shih-Jen SJ; Katz, Ronit R; Li, Man M; Yang, Qiong Q; Gudnason, Vilmundur V; Launer, Lenore J LJ; Harris, Tamara B TB; Smith, Albert V AV; Arking, Dan E DE; Astor, Brad C BC; Boerwinkle, Eric E; Ehret, Georg B GB; Ruczinski, Ingo I; Scharpf, Robert B RB; Chen, Yii-Der Ida YD; de Boer, Ian H IH; Haritunians, Talin T; Lumley, Thomas T; Sarnak, Mark M; Siscovick, David D; Benjamin, Emelia J EJ; Levy, Daniel D; Upadhyay, Ashish A; Aulchenko, Yurii S YS; Hofman, Albert A; Rivadeneira, Fernando F; Uitterlinden, André G AG; van Duijn, Cornelia M CM; Chasman, Daniel I DI; Paré, Guillaume G; Ridker, Paul M PM; Kao, W H Linda WH; Witteman, Jacqueline C JC; Coresh, Josef J; Shlipak, Michael G MG; Fox, Caroline S CS

Publication Date: 2009-06

Variant appearance in text: rs6040055

PubMed Link: 19430482

Variant Present in the following documents:

• Main text

View BVdb publication page

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