Publications:

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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: CD177: A348T

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2

View BVdb publication page

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Whole-exome sequencing of epithelial ovarian carcinomas differing in resistance to platinum therapy.

Life Science Alliance

Hlaváč, Viktor V; Holý, Petr P; Václavíková, Radka R; Rob, Lukáš L; Hruda, Martin M; Mrhalová, Marcela M; Černaj, Petr P; Bouda, Jiří J; Souček, Pavel P

Publication Date: 2022-10-13

Variant appearance in text: CD177: Ala348Thr

PubMed Link: 36229065

Variant Present in the following documents:

• LSA-2022-01551_TableS16.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: CD177: A348T; rs17856829

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

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: rs17856829

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A

Publication Date: 2022-08-15

Variant appearance in text: CD177: A348T

PubMed Link: 35653148

Variant Present in the following documents:

• ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: CD177: A348T

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: CD177: A348T

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 11

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: CD177: 1042G>A; A348T; rs17856829

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: CD177: A348T; rs17856829

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Multicenter Study on Differential Human Neutrophil Antigen 2 Expression and Underlying Molecular Mechanisms.

Transfusion Medicine And Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie

Flesch, Brigitte K BK; Reil, Angelika A; Nogués, Núria N; Canals, Carme C; Bugert, Peter P; Schulze, Torsten J TJ; Huiskes, Elly E; Porcelijn, Leendert L; Höglund, Petter P; Ratcliffe, Paul P; Schönbacher, Marlies M; Kerchrom, Hans H; Kellershohn, Josina J; Bayat, Behnaz B

Publication Date: 2020-10

Variant appearance in text: CD177: 1042G>A; Ala348Thr

PubMed Link: 33173457

Variant Present in the following documents:

• Main text

View BVdb publication page

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Tumor mutation burden and recurrent tumors in hereditary lung cancer.

Cancer Medicine

Hsu, Yi-Chiung YC; Chang, Ya-Hsuan YH; Chang, Gee-Chen GC; Ho, Bing-Ching BC; Yuan, Shin-Sheng SS; Li, Yu-Cheng YC; Zeng, Jhih-Wun JW; Yu, Sung-Liang SL; Li, Ker-Chau KC; Yang, Pan-Chyr PC; Chen, Hsuan-Yu HY

Publication Date: 2019-05

Variant appearance in text: rs17856829

PubMed Link: 30941903

Variant Present in the following documents:

• CAM4-8-2179-s001.xlsx, sheet 2

View BVdb publication page

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The nonconservative CD177 single-nucleotide polymorphism c.1291G>A is a genetic determinant for human neutrophil antigen-2 atypical/low expression and deficiency.

Transfusion

Wu, Jianming J; Li, Yunfang Y; Schuller, Randy M RM; Li, Ling L; Litmeyer, Anne-Sophie AS; Bein, Gregor G; Sachs, Ulrich J UJ; Bayat, Behnaz B

Publication Date: 2019-05

Variant appearance in text: CD177: Ala348Thr

PubMed Link: 30828823

Variant Present in the following documents:

• Main text

View BVdb publication page

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Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One

Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD

Publication Date: 2019

Variant appearance in text: CD177: 1042G>A; Ala348Thr

PubMed Link: 30608972

Variant Present in the following documents:

• pone.0210079.s007.xlsx, sheet 20
• pone.0210079.s007.xlsx, sheet 19
• pone.0210079.s007.xlsx, sheet 4
• pone.0210079.s007.xlsx, sheet 18

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: CD177: A348T

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: rs17856829

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 3

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: CD177: 1042G>A; Ala348Thr; rs17856829

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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MUG-Mel2, a novel highly pigmented and well characterized NRAS mutated human melanoma cell line.

Scientific Reports

Rinner, Beate B; Gandolfi, Greta G; Meditz, Katharina K; Frisch, Marie-Therese MT; Wagner, Karin K; Ciarrocchi, Alessia A; Torricelli, Federica F; Koivuniemi, Raili R; Niklander, Johanna J; Liegl-Atzwanger, Bernadette B; Lohberger, Birgit B; Heitzer, Ellen E; Ghaffari-Tabrizi-Wizsy, Nassim N; Zweytick, Dagmar D; Zalaudek, Iris I

Publication Date: 2017-05-18

Variant appearance in text: CD177: 1042G>A; Ala348Thr

PubMed Link: 28522871

Variant Present in the following documents:

• 41598_2017_2197_MOESM1_ESM.pdf

View BVdb publication page

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Heterogeneity of Human Neutrophil CD177 Expression Results from CD177P1 Pseudogene Conversion.

Plos Genetics

Wu, Zuopeng Z; Liang, Rong R; Ohnesorg, Thomas T; Cho, Vicky V; Lam, Wesley W; Abhayaratna, Walter P WP; Gatenby, Paul A PA; Perera, Chandima C; Zhang, Yafei Y; Whittle, Belinda B; Sinclair, Andrew A; Goodnow, Christopher C CC; Field, Matthew M; Andrews, T Daniel TD; Cook, Matthew C MC

Publication Date: 2016-05

Variant appearance in text: CD177: A348T; rs17856829

PubMed Link: 27227454

Variant Present in the following documents:

• Main text
• pgen.1006067.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CD177: A348T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Genetic mechanism of human neutrophil antigen 2 deficiency and expression variations.

Plos Genetics

Li, Yunfang Y; Mair, David C DC; Schuller, Randy M RM; Li, Ling L; Wu, Jianming J

Publication Date: 2015-05

Variant appearance in text: CD177: Ala348Thr

PubMed Link: 26024230

Variant Present in the following documents:

• Main text
• pgen.1005255.pdf

View BVdb publication page

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A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A

Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA

Publication Date: 2014

Variant appearance in text: rs17856829

PubMed Link: 25469153

Variant Present in the following documents:

• 12979_2014_19_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: rs17856829

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 11

View BVdb publication page

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