Publications:

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: PTCH1: 3944C>A; Pro1315His; rs357564

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs357564

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Eph and Ephrin Variants in Malaysian Neural Tube Defect Families.

Genes

Mohd-Zin, Siti Waheeda SW; Tan, Amelia Cheng Wei ACW; Atroosh, Wahib M WM; Thong, Meow-Keong MK; Azizi, Abu Bakar AB; Greene, Nicholas D E NDE; Abdul-Aziz, Noraishah Mydin NM

Publication Date: 2022-05-26

Variant appearance in text: rs357564

PubMed Link: 35741713

Variant Present in the following documents:

• Main text
• genes-13-00952.pdf

View BVdb publication page

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Genomic Insights Into the Population History and Biological Adaptation of Southwestern Chinese Hmong-Mien People.

Frontiers In Genetics

Liu, Yan Y; Xie, Jie J; Wang, Mengge M; Liu, Changhui C; Zhu, Jingrong J; Zou, Xing X; Li, Wenshan W; Wang, Lin L; Leng, Cuo C; Xu, Quyi Q; Yeh, Hui-Yuan HY; Wang, Chuan-Chao CC; Wen, Xiaohong X; Liu, Chao C; He, Guanglin G

Publication Date: 2021

Variant appearance in text: rs357564

PubMed Link: 35047024

Variant Present in the following documents:

• Main text
• fgene-12-815160.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: rs357564

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.

Nature Medicine

Jin, Sheng Chih SC; Dong, Weilai W; Kundishora, Adam J AJ; Panchagnula, Shreyas S; Moreno-De-Luca, Andres A; Furey, Charuta G CG; Allocco, August A AA; Walker, Rebecca L RL; Nelson-Williams, Carol C; Smith, Hannah H; Dunbar, Ashley A; Conine, Sierra S; Lu, Qiongshi Q; Zeng, Xue X; Sierant, Michael C MC; Knight, James R JR; Sullivan, William W; Duy, Phan Q PQ; DeSpenza, Tyrone T; Reeves, Benjamin C BC; Karimy, Jason K JK; Marlier, Arnaud A; Castaldi, Christopher C; Tikhonova, Irina R IR; Li, Boyang B; Peña, Helena Perez HP; Broach, James R JR; Kabachelor, Edith M EM; Ssenyonga, Peter P; Hehnly, Christine C; Ge, Li L; Keren, Boris B; Timberlake, Andrew T AT; Goto, June J; Mangano, Francesco T FT; Johnston, James M JM; Butler, William E WE; Warf, Benjamin C BC; Smith, Edward R ER; Schiff, Steven J SJ; Limbrick, David D DD; Heuer, Gregory G; Jackson, Eric M EM; Iskandar, Bermans J BJ; Mane, Shrikant S; Haider, Shozeb S; Guclu, Bulent B; Bayri, Yasar Y; Sahin, Yener Y; Duncan, Charles C CC; Apuzzo, Michael L J MLJ; DiLuna, Michael L ML; Hoffman, Ellen J EJ; Sestan, Nenad N; Ment, Laura R LR; Alper, Seth L SL; Bilguvar, Kaya K; Geschwind, Daniel H DH; Günel, Murat M; Lifton, Richard P RP; Kahle, Kristopher T KT

Publication Date: 2020-11

Variant appearance in text: PTCH1: Pro1315His

PubMed Link: 33077954

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutation profiling of cancer drivers in Brazilian colorectal cancer.

Scientific Reports

Dos Santos, Wellington W; Sobanski, Thais T; de Carvalho, Ana Carolina AC; Evangelista, Adriane Feijó AF; Matsushita, Marcus M; Berardinelli, Gustavo Nóriz GN; de Oliveira, Marco Antonio MA; Reis, Rui Manuel RM; Guimarães, Denise Peixoto DP

Publication Date: 2019-09-23

Variant appearance in text: rs357564

PubMed Link: 31548566

Variant Present in the following documents:

• 41598_2019_49611_MOESM1_ESM.pdf

View BVdb publication page

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MicroRNA-374a, -4680, and -133b suppress cell proliferation through the regulation of genes associated with human cleft palate in cultured human palate cells.

Bmc Medical Genomics

Suzuki, Akiko A; Li, Aimin A; Gajera, Mona M; Abdallah, Nada N; Zhang, Musi M; Zhao, Zhongming Z; Iwata, Junichi J

Publication Date: 2019-07-01

Variant appearance in text: rs357564

PubMed Link: 31262291

Variant Present in the following documents:

• 12920_2019_546_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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[Analysis of single-nucleotide polymorphism of Sonic hedgehog signaling pathway in non-syndromic cleft lip and/or palate in the Chinese population].

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal Of Peking University. Health Sciences

Zhang, J N JN; Song, F Q FQ; Zhou, S N SN; Zheng, H H; Peng, L Y LY; Zhang, Q Q; Zhao, W H WH; Zhang, T W TW; Li, W R WR; Zhou, Z B ZB; Lin, J X JX; Chen, F F

Publication Date: 2019-06-18

Variant appearance in text: rs357564

PubMed Link: 31209431

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs357564

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_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: rs357564

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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Differences in clinical characteristics and mutational pattern between synchronous and metachronous colorectal liver metastases.

Cancer Management And Research

Zheng, Peng P; Ren, Li L; Feng, Qingyang Q; Zhu, Dexiang D; Chang, Wenju W; He, Guodong G; Ji, Meiling M; Jian, Mi M; Lin, Qi Q; Yi, Tuo T; Wei, Ye Y; Xu, Jianmin J

Publication Date: 2018

Variant appearance in text: rs357564

PubMed Link: 30214282

Variant Present in the following documents:

• Main text
• cmar-10-2871.pdf

View BVdb publication page

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Development of a targeted sequencing approach to identify prognostic, predictive and diagnostic markers in paediatric solid tumours.

Oncotarget

Izquierdo, Elisa E; Yuan, Lina L; George, Sally S; Hubank, Michael M; Jones, Chris C; Proszek, Paula P; Shipley, Janet J; Gatz, Susanne A SA; Stinson, Caedyn C; Moore, Andrew S AS; Clifford, Steven C SC; Hicks, Debbie D; Lindsey, Janet C JC; Hill, Rebecca M RM; Jacques, Thomas S TS; Chalker, Jane J; Thway, Khin K; O'Connor, Simon S; Marshall, Lynley L; Moreno, Lucas L; Pearson, Andrew A; Chesler, Louis L; Walker, Brian A BA; De Castro, David Gonzalez DG

Publication Date: 2017-12-19

Variant appearance in text: rs357564

PubMed Link: 29340109

Variant Present in the following documents:

• oncotarget-08-112036-s003.xlsx, sheet 1

View BVdb publication page

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HAPRAP: a haplotype-based iterative method for statistical fine mapping using GWAS summary statistics.

Bioinformatics (Oxford, England)

Zheng, Jie J; Rodriguez, Santiago S; Laurin, Charles C; Baird, Denis D; Trela-Larsen, Lea L; Erzurumluoglu, Mesut A MA; Zheng, Yi Y; White, Jon J; Giambartolomei, Claudia C; Zabaneh, Delilah D; Morris, Richard R; Kumari, Meena M; Casas, Juan P JP; Hingorani, Aroon D AD; , ; Evans, David M DM; Gaunt, Tom R TR; Day, Ian N M IN

Publication Date: 2017-01-01

Variant appearance in text: rs357564

PubMed Link: 27591082

Variant Present in the following documents:

• Main text
• btw565.pdf

View BVdb publication page

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A novel germline mutation in a patient with nevoid basal cell carcinoma syndrome showing cystic lesion in the lung.

Human Genome Variation

Miyata, Ryo R; Kurosawa, Manabu M; Sato, Masaaki M; Kono, Tomoya T; Takubo, Yasutaka Y; Okai, Shinsaku S; Yamada, Keisuke K; Shinkura, Reiko R; Date, Hiroshi H; Matsuda, Fumihiko F

Publication Date: 2015

Variant appearance in text: rs357564

PubMed Link: 27081528

Variant Present in the following documents:

• Main text
• hgv201514.pdf

View BVdb publication page

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Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: rs357564

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: rs357564

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: rs357564

PubMed Link: 24728327

Variant Present in the following documents:

• Main text
• pone.0094554.pdf
• pone.0094554.s002.xlsx, sheet 3
• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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Association of SMO polymorphisms and neural tube defects in the Chinese population from Shanxi Province.

International Journal Of Clinical And Experimental Medicine

Wang, Zhen Z; Shangguan, Shaofang S; Lu, Xiaolin X; Chang, Shaoyan S; Li, Rui R; Wu, Lihua L; Bao, Yihua Y; Niu, Bo B; Wang, Li L; Zhang, Ting T

Publication Date: 2013

Variant appearance in text: rs357564

PubMed Link: 24260604

Variant Present in the following documents:

• Main text

View BVdb publication page

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Common genetic variations in Patched1 (PTCH1) gene and risk of hirschsprung disease in the Han Chinese population.

Plos One

Wang, Yang Y; Wang, Jun J; Pan, Weihua W; Zhou, Ying Y; Xiao, Yongtao Y; Zhou, Kejun K; Wen, Jie J; Yu, Tingxi T; Cai, Wei W

Publication Date: 2013

Variant appearance in text: rs357564

PubMed Link: 24073265

Variant Present in the following documents:

• Main text
• pone.0075407.pdf

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs357564

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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A population-based study of hedgehog pathway gene variants in relation to the dual risk of basal cell carcinoma plus another cancer.

Cancer Epidemiology

Jorgensen, Timothy J TJ; Ruczinski, Ingo I; Yao Shugart, Yin Y; Wheless, Lee L; Berthier Schaad, Yvette Y; Kessing, Bailey B; Hoffman-Bolton, Judith J; Helzlsouer, Kathy J KJ; Kao, W H Linda WH; Francis, Lesley L; Alani, Rhoda M RM; Strickland, Paul T PT; Smith, Michael W MW; Alberg, Anthony J AJ

Publication Date: 2012-10

Variant appearance in text: rs357564

PubMed Link: 22677152

Variant Present in the following documents:

• Main text

View BVdb publication page

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A two-phase case-control study for colorectal cancer genetic susceptibility: candidate genes from chromosomal regions 9q22 and 3q22.

British Journal Of Cancer

Abulí, A A; Fernández-Rozadilla, C C; Giráldez, M D MD; Muñoz, J J; Gonzalo, V V; Bessa, X X; Bujanda, L L; Reñé, J M JM; Lanas, A A; García, A M AM; Saló, J J; Argüello, L L; Vilella, A A; Carreño, R R; Jover, R R; Xicola, R M RM; Llor, X X; Carvajal-Carmona, L L; Tomlinson, I P M IP; Kerr, D J DJ; Houlston, R S RS; Piqué, J M JM; Carracedo, A A; Castells, A A; Andreu, M M; Ruiz-Ponte, C C; Castellví-Bel, S S; ,

Publication Date: 2011-09-06

Variant appearance in text: rs357564

PubMed Link: 21811255

Variant Present in the following documents:

• Main text
• bjc2011296a.pdf

View BVdb publication page

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Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.

American Journal Of Medical Genetics. Part A

Letra, Ariadne A; Menezes, Renato R; Govil, Manika M; Fonseca, Renata F RF; McHenry, Toby T; Granjeiro, José M JM; Castilla, Eduardo E EE; Orioli, Iêda M IM; Marazita, Mary L ML; Vieira, Alexandre R AR

Publication Date: 2010-07

Variant appearance in text: rs357564

PubMed Link: 20583170

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics

Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W

Publication Date: 2008-06-11

Variant appearance in text: rs357564

PubMed Link: 18547414

Variant Present in the following documents:

• 1755-8794-1-24-S1.xls, sheet 1

View BVdb publication page

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Allele-specific expression in the germline of patients with familial pancreatic cancer: an unbiased approach to cancer gene discovery.

Cancer Biology & Therapy

Tan, Aik Choon AC; Fan, Jian-Bing JB; Karikari, Collins C; Bibikova, Marina M; Garcia, Eliza Wickham EW; Zhou, Lixin L; Barker, David D; Serre, David D; Feldmann, Georg G; Hruban, Ralph H RH; Klein, Alison P AP; Goggins, Michael M; Couch, Fergus J FJ; Hudson, Thomas J TJ; Winslow, Raimond L RL; Maitra, Anirban A; Chakravarti, Aravinda A

Publication Date: 2008-01

Variant appearance in text: rs357564

PubMed Link: 18059179

Variant Present in the following documents:

• Main text

View BVdb publication page

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