Publications:

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The Notch1/CD22 signaling axis disrupts Treg cell function in SARS-CoV2-associated multisystem inflammatory syndrome in children.

The Journal Of Clinical Investigation

Benamar, Mehdi M; Chen, Qian Q; Chou, Janet J; Julé, Amélie M AM; Boudra, Rafik R; Contini, Paola P; Crestani, Elena E; Lai, Peggy S PS; Wang, Muyun M; Fong, Jason J; Rockwitz, Shira S; Lee, Pui Y PY; Chan, Tsz Man Fion TMF; Altun, Ekin Zeynep EZ; Kepenekli, Eda E; Karakoc-Aydiner, Elif E; Ozen, Ahmet A; Boran, Perran P; Aygun, Fatih F; Önal, Pınar P; Kilinc Sakalli, Ayse Ayzit AA; Cokugras, Haluk H; Gelmez, Metin Yusuf MY; Oktelik, Fatma B FB; Cetin Aktas, Esin E; Zhong, Yuelin Y; Taylor, Maria L ML; Irby, Katherine K; Halasa, Natasha B NB; Mack, Elizabeth H EH; Signa, Sara S; Prigione, Ignazia I; Gattorno, Marco M; Cotugno, Nicola N; Amodio, Donato D; Geha, Raif S RS; Son, Mary Beth MB; Newburger, Jane W JW; Agrawal, Pankaj B PB; Volpi, Stefano S; Palma, Paolo P; Kiykim, Ayca A; Randolph, Adrienne A; Deniz, Gunnur G; Baris, Safa S; De Palma, Raffaele R; Schmitz-Abe, Klaus K; Charbonnier, Louis-Marie LM; Henderson, Lauren A LA; Chatila, Talal A TA

Publication Date: 2022-10-25

Variant appearance in text: 225: D107V

PubMed Link: 36282598

Variant Present in the following documents:

• jci-133-163235-s083.xlsx, sheet 1

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: 225: 320A>T

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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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: 320A>T

PubMed Link: 33123180

Variant Present in the following documents:

• Table_3.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: 320A>T

PubMed Link: 31708937

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 1

View BVdb publication page

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Whole-Genome Resequencing Identifies the Molecular Genetic Cause for the Absence of a Gy5 Glycinin Protein in Soybean PI 603408.

G3 (Bethesda, Md.)

Gillman, Jason D JD; Kim, Won-Seok WS; Song, Bo B; Oehrle, Nathan W NW; Tawari, Nilesh R NR; Liu, Shanshan S; Krishnan, Hari B HB

Publication Date: 2017-07-05

Variant appearance in text: 225: Asp107Val

PubMed Link: 28592556

Variant Present in the following documents:

• 2345FileS1.xlsx, 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: 225: D107V

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: 225: D107V

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

View BVdb publication page

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Risk assessment studies on succinate dehydrogenase inhibitors, the new weapons in the battle to control Septoria leaf blotch in wheat.

Molecular Plant Pathology

Fraaije, Bart A BA; Bayon, Carlos C; Atkins, Sarah S; Cools, Hans J HJ; Lucas, John A JA; Fraaije, Marco W MW

Publication Date: 2012-04

Variant appearance in text: 225: D107V

PubMed Link: 21933337

Variant Present in the following documents:

• Main text

View BVdb publication page

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