Publications:

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Feasibility and clinical utility of comprehensive genomic profiling of hematological malignancies.

Cancer Science

Fukuhara, Suguru S; Oshikawa-Kumade, Yuji Y; Kogure, Yasunori Y; Shingaki, Sumito S; Kariyazono, Hirokazu H; Kikukawa, Yoshiya Y; Koya, Junji J; Saito, Yuki Y; Tabata, Mariko M; Yoshifuji, Kota K; Mizuno, Kota K; Miyagi-Maeshima, Akiko A; Matsushita, Hiromichi H; Sugiyama, Masanaka M; Ogawa, Chitose C; Inamoto, Yoshihiro Y; Fukuda, Takahiro T; Sugano, Masato M; Yamauchi, Nobuhiko N; Minami, Yosuke Y; Hirata, Makoto M; Yoshida, Teruhiko T; Kohno, Takashi T; Kohsaka, Shinji S; Mano, Hiroyuki H; Shiraishi, Yuichi Y; Ogawa, Seishi S; Izutsu, Koji K; Kataoka, Keisuke K

Publication Date: 2022-08

Variant appearance in text: GFI1: K403R

PubMed Link: 35579198

Variant Present in the following documents:

• CAS-113-2763-s003.xlsx, sheet 6

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: GFI1: K403R; rs28936382

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: GFI1: 1208A>G; Lys403Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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Mouse models of neutropenia reveal progenitor-stage-specific defects.

Nature

Muench, David E DE; Olsson, Andre A; Ferchen, Kyle K; Pham, Giang G; Serafin, Rachel A RA; Chutipongtanate, Somchai S; Dwivedi, Pankaj P; Song, Baobao B; Hay, Stuart S; Chetal, Kashish K; Trump-Durbin, Lisa R LR; Mookerjee-Basu, Jayati J; Zhang, Kejian K; Yu, Jennifer C JC; Lutzko, Carolyn C; Myers, Kasiani C KC; Nazor, Kristopher L KL; Greis, Kenneth D KD; Kappes, Dietmar J DJ; Way, Sing Sing SS; Salomonis, Nathan N; Grimes, H Leighton HL

Publication Date: 2020-06

Variant appearance in text: GFI1: K403R

PubMed Link: 32494068

Variant Present in the following documents:

• Main text
• nihms-1566237.pdf

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Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss.

Bmc Medical Genetics

Venugopal, Parvathy P; Gagliardi, Lucia L; Forsyth, Cecily C; Feng, Jinghua J; Phillips, Kerry K; Babic, Milena M; Poplawski, Nicola K NK; Rienhoff, Hugh Young HY; Schreiber, Andreas W AW; Hahn, Christopher N CN; Brown, Anna L AL; Scott, Hamish S HS

Publication Date: 2020-02-17

Variant appearance in text: GFI1: K403R

PubMed Link: 32066420

Variant Present in the following documents:

• Main text
• 12881_2020_Article_971.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: GFI1: K403R; rs28936382

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Tarailo-Graovac, Maja M; Zhu, Jing Yun Alice JYA; Matthews, Allison A; van Karnebeek, Clara D M CDM; Wasserman, Wyeth W WW

Publication Date: 2017-12

Variant appearance in text: GFI1: K403R; rs28936382

PubMed Link: 28471432

Variant Present in the following documents:

• gim201750x2.xlsx, sheet 3

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SUMOylation Regulates Growth Factor Independence 1 in Transcriptional Control and Hematopoiesis.

Molecular And Cellular Biology

Andrade, Daniel D; Velinder, Matthew M; Singer, Jason J; Maese, Luke L; Bareyan, Diana D; Nguyen, Hong H; Chandrasekharan, Mahesh B MB; Lucente, Helena H; McClellan, David D; Jones, David D; Sharma, Sunil S; Liu, Fang F; Engel, Michael E ME

Publication Date: 2016-05-15

Variant appearance in text: GFI1: K403R

PubMed Link: 26951200

Variant Present in the following documents:

• Main text

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: GFI1: K403R; rs28936382

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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From cytopenia to leukemia: the role of Gfi1 and Gfi1b in blood formation.

Blood

Möröy, Tarik T; Vassen, Lothar L; Wilkes, Brian B; Khandanpour, Cyrus C

Publication Date: 2015-12-10

Variant appearance in text: GFI1: K403R

PubMed Link: 26447191

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GFI1: K403R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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: GFI1: K403R

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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The genetic landscape of high-risk neuroblastoma.

Nature Genetics

Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM

Publication Date: 2013-03

Variant appearance in text: GFI1: 1208A>G; K403R; rs28936382

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 1

View BVdb publication page

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Cyclic neutropenia associated with T cell immunity to granulocyte proteases and a double de novo mutation in GFI1, a transcriptional regulator of ELANE.

British Journal Of Haematology

Armistead, Paul M PM; Wieder, Eric E; Akande, Olanike O; Alatrash, Gheath G; Quintanilla, Kathryn K; Liang, Shoudan S; Molldrem, Jeffrey J

Publication Date: 2010-09

Variant appearance in text: GFI1: K403R

PubMed Link: 20560965

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.

British Journal Of Haematology

Xia, Jun J; Bolyard, Audrey A AA; Rodger, Elin E; Stein, Steve S; Aprikyan, Andrew A AA; Dale, David C DC; Link, Daniel C DC

Publication Date: 2009-11

Variant appearance in text: GFI1: K403R

PubMed Link: 19775295

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2.

Nature Genetics

Person, Richard E RE; Li, Feng-Qian FQ; Duan, Zhijun Z; Benson, Kathleen F KF; Wechsler, Jeremy J; Papadaki, Helen A HA; Eliopoulos, George G; Kaufman, Christina C; Bertolone, Salvatore J SJ; Nakamoto, Betty B; Papayannopoulou, Thalia T; Grimes, H Leighton HL; Horwitz, Marshall M

Publication Date: 2003-07

Variant appearance in text: GFI1: K403R

PubMed Link: 12778173

Variant Present in the following documents:

• Main text

View BVdb publication page

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