Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs35737219

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Saudi Journal Of Biological Sciences

Aboul-Soud, Mourad A M MAM; Alzahrani, Alhussain J AJ; Mahmoud, Amer A

Publication Date: 2021-01

Variant appearance in text: rs35737219

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics

Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI

Publication Date: 2019-06-03

Variant appearance in text: rs35737219

PubMed Link: 31159795

Variant Present in the following documents:

• 12920_2019_527_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

American Journal Of Medical Genetics. Part A

Marini, Nicholas J NJ; Asrani, Kripa K; Yang, Wei W; Rine, Jasper J; Shaw, Gary M GM

Publication Date: 2019-07

Variant appearance in text: MTHFR: T653M; rs35737219

PubMed Link: 31063268

Variant Present in the following documents:

• AJMG-179-1260-s005.xlsx, sheet 1
• AJMG-179-1260-s007.xlsx, sheet 1

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: MTHFR: 1958C>T; Thr653Met

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: MTHFR: T653M; rs35737219

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: MTHFR: T653M; rs35737219

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs35737219

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon.

Bmc Medical Genetics

Abou Hassan, Ossama K OK; Haidar, Wiam W; Nemer, Georges G; Skouri, Hadi H; Haddad, Fadi F; BouAkl, Imad I

Publication Date: 2018-05-30

Variant appearance in text: MTHFR: Thr653Met; rs35737219

PubMed Link: 29843651

Variant Present in the following documents:

• 12881_2018_608_MOESM1_ESM.pdf

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: MTHFR: T653M; rs35737219

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

View BVdb publication page

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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: MTHFR: T653M; rs35737219

PubMed Link: 27456059

Variant Present in the following documents:

• srep30457-s2.xls, sheet 2
• srep30457-s2.xls, sheet 1

View BVdb publication page

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A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.

Cold Spring Harbor Molecular Case Studies

Lu, Charles C; Riedell, Peter P; Miller, Christopher A CA; Hagemann, Ian S IS; Westervelt, Peter P; Ozenberger, Bradley A BA; O'Laughlin, Michelle M; Magrini, Vincent V; Demeter, Ryan T RT; Duncavage, Eric J EJ; Griffith, Malachi M; Griffith, Obi L OL; Wartman, Lukas D LD

Publication Date: 2016-01

Variant appearance in text: rs35737219

PubMed Link: 27148581

Variant Present in the following documents:

• supp_2.1.a000687_Supp_Table_2.xlsx, sheet 1

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: MTHFR: T653M; rs35737219

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: MTHFR: T653M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: MTHFR: T653M; rs35737219

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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Ethnic-specific associations of rare and low-frequency DNA sequence variants with asthma.

Nature Communications

Igartua, Catherine C; Myers, Rachel A RA; Mathias, Rasika A RA; Pino-Yanes, Maria M; Eng, Celeste C; Graves, Penelope E PE; Levin, Albert M AM; Del-Rio-Navarro, Blanca E BE; Jackson, Daniel J DJ; Livne, Oren E OE; Rafaels, Nicholas N; Edlund, Christopher K CK; Yang, James J JJ; Huntsman, Scott S; Salam, Muhammad T MT; Romieu, Isabelle I; Mourad, Raphael R; Gern, James E JE; Lemanske, Robert F RF; Wyss, Annah A; Hoppin, Jane A JA; Barnes, Kathleen C KC; Burchard, Esteban G EG; Gauderman, W James WJ; Martinez, Fernando D FD; Raby, Benjamin A BA; Weiss, Scott T ST; Williams, L Keoki LK; London, Stephanie J SJ; Gilliland, Frank D FD; Nicolae, Dan L DL; Ober, Carole C

Publication Date: 2015-01-16

Variant appearance in text: MTHFR: T653M; rs35737219

PubMed Link: 25591454

Variant Present in the following documents:

• ncomms6965-s1.pdf

View BVdb publication page

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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: MTHFR: T653M; rs35737219

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Folate metabolism gene 5,10-methylenetetrahydrofolate reductase (MTHFR) is associated with ADHD in myelomeningocele patients.

Plos One

Spellicy, Catherine J CJ; Northrup, Hope H; Fletcher, Jack M JM; Cirino, Paul T PT; Dennis, Maureen M; Morrison, Alanna C AC; Martinez, Carla A CA; Au, Kit Sing KS

Publication Date: 2012

Variant appearance in text: rs35737219

PubMed Link: 23227261

Variant Present in the following documents:

• Main text
• pone.0051330.pdf

View BVdb publication page

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Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele.

Birth Defects Research. Part A, Clinical And Molecular Teratology

Aneji, Chiamaka N CN; Northrup, Hope H; Au, Kit Sing KS

Publication Date: 2012-02

Variant appearance in text: MTHFR: Thr653Met; rs35737219

PubMed Link: 22241680

Variant Present in the following documents:

• Main text

View BVdb publication page

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A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis.

Plos One

Marini, Nicholas J NJ; Hoffmann, Thomas J TJ; Lammer, Edward J EJ; Hardin, Jill J; Lazaruk, Katherine K; Stein, Jason B JB; Gilbert, Dennis A DA; Wright, Crystal C; Lipzen, Anna A; Pennacchio, Len A LA; Carmichael, Suzan L SL; Witte, John S JS; Shaw, Gary M GM; Rine, Jasper J

Publication Date: 2011

Variant appearance in text: rs35737219

PubMed Link: 22140583

Variant Present in the following documents:

• pone.0028408.s004.xls, sheet 1

View BVdb publication page

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Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy.

Molecular Vision

Hudson, Gavin G; Yu-Wai-Man, Patrick P; Zeviani, Massimo M; Chinnery, Patrick F PF

Publication Date: 2009

Variant appearance in text: rs35737219

PubMed Link: 19421414

Variant Present in the following documents:

• Main text
• mv-v15-870.pdf

View BVdb publication page

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The prevalence of folate-remedial MTHFR enzyme variants in humans.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Marini, Nicholas J NJ; Gin, Jennifer J; Ziegle, Janet J; Keho, Kathryn Hunkapiller KH; Ginzinger, David D; Gilbert, Dennis A DA; Rine, Jasper J

Publication Date: 2008-06-10

Variant appearance in text: MTHFR: T653M

PubMed Link: 18523009

Variant Present in the following documents:

• Main text

View BVdb publication page

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