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: 1243A>G

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1

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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: T415A

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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Sperm parameters and mitochondrial DNA sequence variants among patients at a fertility clinic in Ghana.

Plos One

Dzudzor, Bartholomew B; Bimah, Bismarck B; Amarh, Vincent V; Ocloo, Augustine A

Publication Date: 2021

Variant appearance in text: 225: T415A

PubMed Link: 34129647

Variant Present in the following documents:

• pone.0252923.s002.xls, sheet 2

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One-shot identification of SARS-CoV-2 S RBD escape mutants using yeast screening.

Biorxiv : The Preprint Server For Biology

Urdaniz, Irene Francino IF; Steiner, Paul J PJ; Kirby, Monica B MB; Zhao, Fangzhu F; Haas, Cyrus M CM; Barman, Shawn S; Rhodes, Emily R ER; Peng, Linghang L; Sprenger, Kayla G KG; Jardine, Joseph G JG; Whitehead, Timothy A TA

Publication Date: 2021-03-15

Variant appearance in text: 225: T415A

PubMed Link: 33758848

Variant Present in the following documents:

• media-4.xlsx, sheet 1

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A glycan gate controls opening of the SARS-CoV-2 spike protein.

Biorxiv : The Preprint Server For Biology

Sztain, Terra T; Ahn, Surl-Hee SH; Bogetti, Anthony T AT; Casalino, Lorenzo L; Goldsmith, Jory A JA; Seitz, Evan E; McCool, Ryan S RS; Kearns, Fiona L FL; Acosta-Reyes, Francisco F; Maji, Suvrajit S; Mashayekhi, Ghoncheh G; McCammon, J Andrew JA; Ourmazd, Abbas A; Frank, Joachim J; McLellan, Jason S JS; Chong, Lillian T LT; Amaro, Rommie E RE

Publication Date: 2021-05-17

Variant appearance in text: 225: T415A

PubMed Link: 33619492

Variant Present in the following documents:

• nihpp-2021.02.15.431212v2.pdf

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A Multipronged Approach Establishes Covalent Modification of β-Tubulin as the Mode of Action of Benzamide Anti-cancer Toxins.

Journal Of Medicinal Chemistry

Povedano, Juan Manuel JM; Rallabandi, Rameshu R; Bai, Xin X; Ye, Xuecheng X; Liou, Joel J; Chen, Hong H; Kim, Jiwoong J; Xie, Yang Y; Posner, Bruce B; Rice, Luke L; De Brabander, Jef K JK; McFadden, David G DG

Publication Date: 2020-11-25

Variant appearance in text: 225: 1243A>G

PubMed Link: 33180487

Variant Present in the following documents:

• jm0c01482_si_002.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: 1243A>G

PubMed Link: 33123180

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

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European mtDNA Variants Are Associated With Differential Responses to Cisplatin, an Anticancer Drug: Implications for Drug Resistance and Side Effects.

Frontiers In Oncology

Patel, Tej H TH; Norman, Lucas L; Chang, Steven S; Abedi, Sina S; Liu, Catherine C; Chwa, Marilyn M; Atilano, Shari R SR; Thaker, Kunal K; Lu, Stephanie S; Jazwinski, S Michal SM; Miceli, Michael V MV; Udar, Nitin N; Bota, Daniela D; Kenney, M Cristina MC

Publication Date: 2019

Variant appearance in text: 225: Thr415Ala

PubMed Link: 31380278

Variant Present in the following documents:

• fonc-09-00640.pdf

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Transcriptomic signature reveals mechanism of flower bud distortion in witches'-broom disease of soybean (Glycine max).

Bmc Plant Biology

Jaiswal, Sarika S; Jadhav, Pravin V PV; Jasrotia, Rahul Singh RS; Kale, Prashant B PB; Kad, Snehal K SK; Moharil, Mangesh P MP; Dudhare, Mahendra S MS; Kheni, Jashminkumar J; Deshmukh, Amit G AG; Mane, Shyamsundar S SS; Nandanwar, Ravindra S RS; Penna, Suprasanna S; Manjaya, Joy G JG; Iquebal, Mir Asif MA; Tomar, Rukam Singh RS; Kawar, Prashant G PG; Rai, Anil A; Kumar, Dinesh D

Publication Date: 2019-01-15

Variant appearance in text: 225: 1243A>G

PubMed Link: 30646861

Variant Present in the following documents:

• 12870_2018_1601_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer.

Elife

Ju, Young Seok YS; Alexandrov, Ludmil B LB; Gerstung, Moritz M; Martincorena, Inigo I; Nik-Zainal, Serena S; Ramakrishna, Manasa M; Davies, Helen R HR; Papaemmanuil, Elli E; Gundem, Gunes G; Shlien, Adam A; Bolli, Niccolo N; Behjati, Sam S; Tarpey, Patrick S PS; Nangalia, Jyoti J; Massie, Charles E CE; Butler, Adam P AP; Teague, Jon W JW; Vassiliou, George S GS; Green, Anthony R AR; Du, Ming-Qing MQ; Unnikrishnan, Ashwin A; Pimanda, John E JE; Teh, Bin Tean BT; Munshi, Nikhil N; Greaves, Mel M; Vyas, Paresh P; El-Naggar, Adel K AK; Santarius, Tom T; Collins, V Peter VP; Grundy, Richard R; Taylor, Jack A JA; Hayes, D Neil DN; Malkin, David D; , ; , ; , ; Foster, Christopher S CS; Warren, Anne Y AY; Whitaker, Hayley C HC; Brewer, Daniel D; Eeles, Rosalind R; Cooper, Colin C; Neal, David D; Visakorpi, Tapio T; Isaacs, William B WB; Bova, G Steven GS; Flanagan, Adrienne M AM; Futreal, P Andrew PA; Lynch, Andy G AG; Chinnery, Patrick F PF; McDermott, Ultan U; Stratton, Michael R MR; Campbell, Peter J PJ

Publication Date: 2014-10-01

Variant appearance in text: 225: T415A

PubMed Link: 25271376

Variant Present in the following documents:

• elife02935s002.xlsx, sheet 3

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