Publications:

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Unveiling forensically relevant biogeographic, phenotype and Y-chromosome SNP variation in Pakistani ethnic groups using a customized hybridisation enrichment forensic intelligence panel.

Plos One

Rauf, Sobiah S; Austin, Jeremy J JJ; Higgins, Denice D; Khan, Muhammad Ramzan MR

Publication Date: 2022

Variant appearance in text: rs2032636

PubMed Link: 35176104

Variant Present in the following documents:

• Main text
• pone.0264125.pdf

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: rs2032636

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs2032636

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.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: DDX3Y: 1020-13T>G; rs2032636

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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Associations between male infertility and ancestry in South Americans: a case control study.

Bmc Medical Genetics

Skowronek, Maria Fernanda MF; Velazquez, Tatiana T; Mut, Patricia P; Figueiro, Gonzalo G; Sans, Monica M; Bertoni, Bernardo B; Sapiro, Rossana R

Publication Date: 2017-07-26

Variant appearance in text: rs2032636

PubMed Link: 28747152

Variant Present in the following documents:

• Main text
• 12881_2017_Article_438.pdf

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: rs2032636

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: rs2032636

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Forensic use of Y-chromosome DNA: a general overview.

Human Genetics

Kayser, Manfred M

Publication Date: 2017-05

Variant appearance in text: rs2032636

PubMed Link: 28315050

Variant Present in the following documents:

• Main text
• 439_2017_Article_1776.pdf

View BVdb publication page

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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: rs2032636

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Blind study evaluation illustrates utility of the Ion PGM™ system for use in human identity DNA typing.

Croatian Medical Journal

Churchill, Jennifer D JD; Chang, Joseph J; Ge, Jianye J; Rajagopalan, Narasimhan N; Wootton, Sharon C SC; Chang, Chien-Wei CW; Lagacé, Robert R; Liao, Wenchi W; King, Jonathan L JL; Budowle, Bruce B

Publication Date: 2015-06

Variant appearance in text: rs2032636

PubMed Link: 26088846

Variant Present in the following documents:

• Main text
• CroatMedJ_56_0218.pdf

View BVdb publication page

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Y chromosome haplogroups and prostate cancer in populations of European and Ashkenazi Jewish ancestry.

Human Genetics

Wang, Zhaoming Z; Parikh, Hemang H; Jia, Jinping J; Myers, Timothy T; Yeager, Meredith M; Jacobs, Kevin B KB; Hutchinson, Amy A; Burdett, Laurie L; Ghosh, Arpita A; Thun, Michael J MJ; Gapstur, Susan M SM; Ryan Diver, W W; Virtamo, Jarmo J; Albanes, Demetrius D; Cancel-Tassin, Geraldine G; Valeri, Antoine A; Cussenot, Olivier O; Offit, Kenneth K; Giovannucci, Ed E; Ma, Jing J; Stampfer, Meir J MJ; Michael Gaziano, J J; Hunter, David J DJ; Dutra-Clarke, Ana A; Kirchhoff, Tomas T; Alavanja, Michael M; Freeman, Laura B LB; Koutros, Stella S; Hoover, Robert R; Berndt, Sonja I SI; Hayes, Richard B RB; Agalliu, Ilir I; Burk, Robert D RD; Wacholder, Sholom S; Thomas, Gilles G; Amundadottir, Laufey L

Publication Date: 2012-07

Variant appearance in text: rs2032636

PubMed Link: 22271044

Variant Present in the following documents:

• Main text
• 439_2012_Article_1139.pdf

View BVdb publication page

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Genetic variation in South Indian castes: evidence from Y-chromosome, mitochondrial, and autosomal polymorphisms.

Bmc Genetics

Watkins, W S WS; Thara, R R; Mowry, B J BJ; Zhang, Y Y; Witherspoon, D J DJ; Tolpinrud, W W; Bamshad, M J MJ; Tirupati, S S; Padmavati, R R; Smith, H H; Nancarrow, D D; Filippich, C C; Jorde, L B LB

Publication Date: 2008-12-12

Variant appearance in text: rs2032636

PubMed Link: 19077280

Variant Present in the following documents:

• 1471-2156-9-86-S1.xls, sheet 1

View BVdb publication page

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