Publications:

---

The mutation spectrum and ethnic distribution of non-hepatorenal tyrosinemia (types II, III).

Orphanet Journal Of Rare Diseases

Beyzaei, Zahra Z; Nabavizadeh, Sara S; Karimzadeh, Sara S; Geramizadeh, Bita B

Publication Date: 2022-12-05

Variant appearance in text: 4-HPPD: Ile335Met

PubMed Link: 36471409

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2579.pdf

View BVdb publication page

---

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: HPD: I335M; rs137852868

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

---

TYROSINEMIA TYPE III: A CASE REPORT OF SIBLINGS AND LITERATURE REVIEW.

Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo

Barroso, Fábio F; Correia, Joana J; Bandeira, Anabela A; Carmona, Carla C; Vilarinho, Laura L; Almeida, Manuela M; Rocha, Júlio César JC; Martins, Esmeralda E

Publication Date: 2020

Variant appearance in text: HPD: I335M

PubMed Link: 32520295

Variant Present in the following documents:

• Main text
• 1984-0462-rpp-38-e2018158.pdf

View BVdb publication page

---

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: HPD: 1005C>G; Ile335Met; rs137852868

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

---

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: HPD: 1005C>G; Ile335Met; rs137852868

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14

View BVdb publication page

---

Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.

The Journal Of Molecular Diagnostics : Jmd

Crowgey, Erin L EL; Washburn, Michael C MC; Kolb, E Anders EA; Puffenberger, Erik G EG

Publication Date: 2019-07

Variant appearance in text: HPD: 1005C>G; Ile335Met

PubMed Link: 31028937

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

---

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: HPD: I335M; rs137852868

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---

Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: HPD: I335M; rs137852868

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page

---

Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis.

Annals Of Neurology

Jia, Xiaoming X; Madireddy, Lohith L; Caillier, Stacy S; Santaniello, Adam A; Esposito, Federica F; Comi, Giancarlo G; Stuve, Olaf O; Zhou, Yuan Y; Taylor, Bruce B; Kilpatrick, Trevor T; Martinelli-Boneschi, Filippo F; Cree, Bruce A C BAC; Oksenberg, Jorge R JR; Hauser, Stephen L SL; Baranzini, Sergio E SE

Publication Date: 2018-07

Variant appearance in text: HPD: I335M

PubMed Link: 29908077

Variant Present in the following documents:

• Main text
• ANA-84-51.pdf

View BVdb publication page

---

Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs137852868

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: rs137852868

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: HPD: I335M

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

---

Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.

Bmc Genetics

Maciąg, Anna A; Villa, Francesco F; Ferrario, Anna A; Spinelli, Chiara Carmela CC; Carrizzo, Albino A; Malovini, Alberto A; Torella, Annalaura A; Montenero, Chiara C; Parisi, Attilio A; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale Sandro AS; Puca, Annibale Alessandro AA

Publication Date: 2015-02-11

Variant appearance in text: HPD: I335M; rs137852868

PubMed Link: 25888430

Variant Present in the following documents:

• 12863_2015_177_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: HPD: I335M

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: HPD: I335M

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

---

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: HPD: 1005C>G; I335M; rs137852868

PubMed Link: 23334666

Variant Present in the following documents:

• Main text
• nihms-474900.pdf
• NIHMS474900-supplement-8.xlsx, sheet 1
• NIHMS474900-supplement-8.xlsx, sheet 2

View BVdb publication page

---

Genomic and phylogenetic characterization of Brazilian yellow fever virus strains.

Journal Of Virology

Nunes, Marcio R T MR; Palacios, Gustavo G; Cardoso, Jedson F JF; Martins, Livia C LC; Sousa, Edivaldo C EC; de Lima, Clayton P S CP; Medeiros, Daniele B A DB; Savji, Nazir N; Desai, Aaloki A; Rodrigues, Sueli G SG; Carvalho, Valeria L VL; Lipkin, W Ian WI; Vasconcelos, Pedro F C PF

Publication Date: 2012-12

Variant appearance in text: HPD: I335M

PubMed Link: 23015713

Variant Present in the following documents:

• Main text

View BVdb publication page

---