Publications:

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: 225: 1154C>T

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Distinct non-clock-like signatures of the basal cell carcinomas from three sisters with a lethal Gorlin-Goltz syndrome.

Bmc Medical Genomics

Ye, Lihua L; Wang, Li L; Peng, Kexin K; Fang, Ou O; Tian, Zhen Z; Li, Caihua C; Fu, Xiaopeng X; Chen, Qingdong Q; Chen, Jia J; Luan, Jing J; Zhang, Zhenghua Z; Zhang, Qiaoan Q

Publication Date: 2022-08-05

Variant appearance in text: 225: 1154C>T

PubMed Link: 35932013

Variant Present in the following documents:

• 12920_2022_1324_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Worldwide SARS-CoV-2 haplotype distribution in early pandemic.

Plos One

Cairo, Andrea A; Iorio, Marilena V MV; Spena, Silvia S; Tagliabue, Elda E; Peyvandi, Flora F

Publication Date: 2022

Variant appearance in text: 225: 1154C>T

PubMed Link: 35171928

Variant Present in the following documents:

• pone.0263705.s010.xlsx, sheet 1

View BVdb publication page

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Worldwide SARS-CoV-2 haplotype distribution in early pandemic.

Plos One

Cairo, Andrea A; Iorio, Marilena V MV; Spena, Silvia S; Tagliabue, Elda E; Peyvandi, Flora F

Publication Date: 2022

Variant appearance in text: 225: 1154C>T

PubMed Link: 35171928

Variant Present in the following documents:

• pone.0263705.s010.xlsx, sheet 1

View BVdb publication page

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Phenethylamine is a substrate of monoamine oxidase B in the paraventricular thalamic nucleus.

Scientific Reports

Obata, Youhei Y; Kubota-Sakashita, Mie M; Kasahara, Takaoki T; Mizuno, Masafumi M; Nemoto, Takahiro T; Kato, Tadafumi T

Publication Date: 2022-01-07

Variant appearance in text: 225: 1154C>T

PubMed Link: 34996979

Variant Present in the following documents:

• 41598_2021_3885_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Natural variants in SARS-CoV-2 Spike protein pinpoint structural and functional hotspots with implications for prophylaxis and therapeutic strategies.

Scientific Reports

Pokhrel, Suman S; Kraemer, Benjamin R BR; Burkholz, Scott S; Mochly-Rosen, Daria D

Publication Date: 2021-06-23

Variant appearance in text: 225: T385I

PubMed Link: 34162970

Variant Present in the following documents:

• 41598_2021_92641_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Epitope Classification and RBD Binding Properties of Neutralizing Antibodies Against SARS-CoV-2 Variants of Concern.

Frontiers In Immunology

Deshpande, Ashlesha A; Harris, Bethany D BD; Martinez-Sobrido, Luis L; Kobie, James J JJ; Walter, Mark R MR

Publication Date: 2021

Variant appearance in text: 225: T385I

PubMed Link: 34149735

Variant Present in the following documents:

• Main text
• fimmu-12-691715.pdf

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: EGR1: T385I

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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North-Western Himalayan Common Beans: Population Structure and Mapping of Quantitative Anthracnose Resistance Through Genome Wide Association Study.

Frontiers In Plant Science

Banoo, Aqleema A; Nabi, Asha A; Rasool, Rovidha S RS; Mahiya-Farooq, ; Shah, Mehraj D MD; Ahmad, Mushtaq M; Sofi, Parvaze A PA; Aasiya-Nabi, ; Itoo, Hamidullah H; Sharma, P N PN; Padder, Bilal A BA

Publication Date: 2020

Variant appearance in text: 225: 1154C>T

PubMed Link: 33123180

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Molecular Architecture of Early Dissemination and Massive Second Wave of the SARS-CoV-2 Virus in a Major Metropolitan Area.

Medrxiv : The Preprint Server For Health Sciences

Long, S Wesley SW; Olsen, Randall J RJ; Christensen, Paul A PA; Bernard, David W DW; Davis, James J JJ; Shukla, Maulik M; Nguyen, Marcus M; Saavedra, Matthew Ojeda MO; Yerramilli, Prasanti P; Pruitt, Layne L; Subedi, Sishir S; Kuo, Hung-Che HC; Hendrickson, Heather H; Eskandari, Ghazaleh G; Nguyen, Hoang A T HAT; Long, J Hunter JH; Kumaraswami, Muthiah M; Goike, Jule J; Boutz, Daniel D; Gollihar, Jimmy J; McLellan, Jason S JS; Chou, Chia-Wei CW; Javanmardi, Kamyab K; Finkelstein, Ilya J IJ; Musser, James M JM

Publication Date: 2020-09-29

Variant appearance in text: 225: T385I

PubMed Link: 33024977

Variant Present in the following documents:

• nihpp-2020.09.22.20199125.pdf

View BVdb publication page

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: EGR1: 1154C>T

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

View BVdb publication page

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Identification of Single Nucleotide Polymorphism in Red Clover (Trifolium pratense L.) Using Targeted Genomic Amplicon Sequencing and RNA-seq.

Frontiers In Plant Science

Li, Wenli W; Riday, Heathcliffe H; Riehle, Christina C; Edwards, Andrea A; Dinkins, Randy R

Publication Date: 2019

Variant appearance in text: 225: 1154C>T

PubMed Link: 31708937

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 1

View BVdb publication page

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Molecular Characterization and Expression of SPP1, LAP3 and LCORL and Their Association with Growth Traits in Sheep.

Genes

La, Yongfu Y; Zhang, Xiaoxue X; Li, Fadi F; Zhang, Deyin D; Li, Chong C; Mo, Futao F; Wang, Weimin W

Publication Date: 2019-08-14

Variant appearance in text: 225: 1154C>T

PubMed Link: 31416156

Variant Present in the following documents:

• Main text
• genes-10-00616.pdf

View BVdb publication page

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NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology

Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G

Publication Date: 2017-04

Variant appearance in text: EGR1: 1154C>T; T385I

PubMed Link: 28267273

Variant Present in the following documents:

• MOL2-11-438-s003.xls, sheet 1

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: EGR1: T385I

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

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