Publications:

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Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19.

European Journal Of Medical Genetics

Monticelli, Maria M; Mele, Bruno Hay BH; Andreotti, Giuseppina G; Cubellis, Maria Vittoria MV; Riccio, Guglielmo G

Publication Date: 2021-06

Variant appearance in text: rs3743930

PubMed Link: 33872774

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs3743930

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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DALIA- a comprehensive resource of Disease Alleles in Arab population.

Plos One

Vatsyayan, Aastha A; Sharma, Parul P; Gupta, Shrey S; Sandhu, Sumiti S; Venu, Seetha Lakshmi SL; Sharma, Vandana V; Badaoui, Bouabid B; Azedine, Kaidi K; Youssef, Serti S; Rajab, Anna A; Fayez, Alaaeldin A; Madinur, Seema S; Ranawat, Anop A; Pandhare, Kavita K; Ramachandran, Srinivasan S; Sivasubbu, Sridhar S; Scaria, Vinod V

Publication Date: 2021

Variant appearance in text: rs3743930

PubMed Link: 33439861

Variant Present in the following documents:

• pone.0244567.s011.xlsx, sheet 1

View BVdb publication page

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Inflammasome genetics and complex diseases: a comprehensive review.

European Journal Of Human Genetics : Ejhg

Fernandes, Fernanda Pereira FP; Leal, Vinicius N C VNC; Souza de Lima, Dhemerson D; Reis, Edione C EC; Pontillo, Alessandra A

Publication Date: 2020-10

Variant appearance in text: rs3743930

PubMed Link: 32499599

Variant Present in the following documents:

• Main text
• 41431_2020_Article_631.pdf

View BVdb publication page

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Replication analysis of variants associated with multiple sclerosis risk.

Scientific Reports

Dashti, Mohammad M; Ateyah, Khadijah K; Alroughani, Raed R; Al-Temaimi, Rabeah R

Publication Date: 2020-04-30

Variant appearance in text: rs3743930

PubMed Link: 32355262

Variant Present in the following documents:

• 41598_2020_64432_MOESM1_ESM.pdf

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs3743930

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

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Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq.

Biochemistry And Biophysics Reports

Nakayama, Manabu M; Oda, Hirotsugu H; Nakagawa, Kenji K; Yasumi, Takahiro T; Kawai, Tomoki T; Izawa, Kazushi K; Nishikomori, Ryuta R; Heike, Toshio T; Ohara, Osamu O

Publication Date: 2017-03

Variant appearance in text: rs3743930

PubMed Link: 28956000

Variant Present in the following documents:

• Main text
• main.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: rs3743930

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications

Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML

Publication Date: 2017-02-10

Variant appearance in text: MEFV: E148K; rs3743930

PubMed Link: 28186126

Variant Present in the following documents:

• ncomms14262-s5.xlsx, sheet 2

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs3743930

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Kuwaiti population subgroup of nomadic Bedouin ancestry-Whole genome sequence and analysis.

Genomics Data

John, Sumi Elsa SE; Thareja, Gaurav G; Hebbar, Prashantha P; Behbehani, Kazem K; Thanaraj, Thangavel Alphonse TA; Alsmadi, Osama O

Publication Date: 2015-03

Variant appearance in text: rs3743930

PubMed Link: 26484159

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

,

Publication Date: 2015-06-26

Variant appearance in text: rs3743930

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM3_ESM.xls, sheet 1

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: rs3743930

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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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs3743930

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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