"cDNA for human methylenetetrahydrofolate reductase."
Rozen R. , Goyette P.

"Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR)."
Goyette P. , Pai A. , Milos R. , Frosst P. , Tran P. , Chen Z. , Chan M. , Rozen R.
Mamm. Genome9:652-656(1998) [PubMed] [Europe PMC] [Abstract]

"Revised translation initiation site of the human methylenetetrahydrofolate reductase (MTHFR)."
Homberger A. , Linnebank M. , Winter C. , Rapp B. , Koch H.G.
Submitted (1999-03) to the EMBL/GenBank/DDBJ databases

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , Yamamoto J. , Saito K. , Kawai Y. , Isono Y. , Nakamura Y. , Nagahari K. , Murakami K. , Yasuda T. , Iwayanagi T. , Wagatsuma M. , Shiratori A. , Sudo H. , Hosoiri T. , Kaku Y. , Kodaira H. , Kondo H. , Sugawara M. , Takahashi M. , Kanda K. , Yokoi T. , Furuya T. , Kikkawa E. , Omura Y. , Abe K. , Kamihara K. , Katsuta N. , Sato K. , Tanikawa M. , Yamazaki M. , Ninomiya K. , Ishibashi T. , Yamashita H. , Murakawa K. , Fujimori K. , Tanai H. , Kimata M. , Watanabe M. , Hiraoka S. , Chiba Y. , Ishida S. , Ono Y. , Takiguchi S. , Watanabe S. , Yosida M. , Hotuta T. , Kusano J. , Kanehori K. , Takahashi-Fujii A. , Hara H. , Tanase T.-O. , Nomura Y. , Togiya S. , Komai F. , Hara R. , Takeuchi K. , Arita M. , Imose N. , Musashino K. , Yuuki H. , Oshima A. , Sasaki N. , Aotsuka S. , Yoshikawa Y. , Matsunawa H. , Ichihara T. , Shiohata N. , Sano S. , Moriya S. , Momiyama H. , Satoh N. , Takami S. , Terashima Y. , Suzuki O. , Nakagawa S. , Senoh A. , Mizoguchi H. , Goto Y. , Shimizu F. , Wakebe H. , Hishigaki H. , Watanabe T. , Sugiyama A. , Takemoto M. , Kawakami B. , Yamazaki M. , Watanabe K. , Kumagai A. , Itakura S. , Fukuzumi Y. , Fujimori Y. , Komiyama M. , Tashiro H. , Tanigami A. , Fujiwara T. , Ono T. , Yamada K. , Fujii Y. , Ozaki K. , Hirao M. , Ohmori Y. , Kawabata A. , Hikiji T. , Kobatake N. , Inagaki H. , Ikema Y. , Okamoto S. , Okitani R. , Kawakami T. , Noguchi S. , Itoh T. , Shigeta K. , Senba T. , Matsumura K. , Nakajima Y. , Mizuno T. , Morinaga M. , Sasaki M. , Togashi T. , Oyama M. , Hata H. , Watanabe M. , Komatsu T. , Mizushima-Sugano J. , Satoh T. , Shirai Y. , Takahashi Y. , Nakagawa K. , Okumura K. , Nagase T. , Nomura N. , Kikuchi H. , Masuho Y. , Yamashita R. , Nakai K. , Yada T. , Nakamura Y. , Ohara O. , Isogai T. , Sugano S. more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

NIEHS SNPs program
Submitted (2003-07) to the EMBL/GenBank/DDBJ databases

"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G. , Barlow K.F. , McLay K.E. , Kaul R. , Swarbreck D. , Dunham A. , Scott C.E. , Howe K.L. , Woodfine K. , Spencer C.C.A. , Jones M.C. , Gillson C. , Searle S. , Zhou Y. , Kokocinski F. , McDonald L. , Evans R. , Phillips K. , Atkinson A. , Cooper R. , Jones C. , Hall R.E. , Andrews T.D. , Lloyd C. , Ainscough R. , Almeida J.P. , Ambrose K.D. , Anderson F. , Andrew R.W. , Ashwell R.I.S. , Aubin K. , Babbage A.K. , Bagguley C.L. , Bailey J. , Beasley H. , Bethel G. , Bird C.P. , Bray-Allen S. , Brown J.Y. , Brown A.J. , Buckley D. , Burton J. , Bye J. , Carder C. , Chapman J.C. , Clark S.Y. , Clarke G. , Clee C. , Cobley V. , Collier R.E. , Corby N. , Coville G.J. , Davies J. , Deadman R. , Dunn M. , Earthrowl M. , Ellington A.G. , Errington H. , Frankish A. , Frankland J. , French L. , Garner P. , Garnett J. , Gay L. , Ghori M.R.J. , Gibson R. , Gilby L.M. , Gillett W. , Glithero R.J. , Grafham D.V. , Griffiths C. , Griffiths-Jones S. , Grocock R. , Hammond S. , Harrison E.S.I. , Hart E. , Haugen E. , Heath P.D. , Holmes S. , Holt K. , Howden P.J. , Hunt A.R. , Hunt S.E. , Hunter G. , Isherwood J. , James R. , Johnson C. , Johnson D. , Joy A. , Kay M. , Kershaw J.K. , Kibukawa M. , Kimberley A.M. , King A. , Knights A.J. , Lad H. , Laird G. , Lawlor S. , Leongamornlert D.A. , Lloyd D.M. , Loveland J. , Lovell J. , Lush M.J. , Lyne R. , Martin S. , Mashreghi-Mohammadi M. , Matthews L. , Matthews N.S.W. , McLaren S. , Milne S. , Mistry S. , Moore M.J.F. , Nickerson T. , O'Dell C.N. , Oliver K. , Palmeiri A. , Palmer S.A. , Parker A. , Patel D. , Pearce A.V. , Peck A.I. , Pelan S. , Phelps K. , Phillimore B.J. , Plumb R. , Rajan J. , Raymond C. , Rouse G. , Saenphimmachak C. , Sehra H.K. , Sheridan E. , Shownkeen R. , Sims S. , Skuce C.D. , Smith M. , Steward C. , Subramanian S. , Sycamore N. , Tracey A. , Tromans A. , Van Helmond Z. , Wall M. , Wallis J.M. , White S. , Whitehead S.L. , Wilkinson J.E. , Willey D.L. , Williams H. , Wilming L. , Wray P.W. , Wu Z. , Coulson A. , Vaudin M. , Sulston J.E. , Durbin R.M. , Hubbard T. , Wooster R. , Dunham I. , Carter N.P. , McVean G. , Ross M.T. , Harrow J. , Olson M.V. , Beck S. , Rogers J. , Bentley D.R. more...
Nature441:315-321(2006) [PubMed] [Europe PMC] [Abstract]

Mural R.J. , Istrail S. , Sutton G.G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , Yooseph S. , Lu F. , Nusskern D.R. , Shue B.C. , Zheng X.H. , Zhong F. , Delcher A.L. , Huson D.H. , Kravitz S.A. , Mouchard L. , Reinert K. , Remington K.A. , Clark A.G. , Waterman M.S. , Eichler E.E. , Adams M.D. , Hunkapiller M.W. , Myers E.W. , Venter J.C. more...
Submitted (2005-07) to the EMBL/GenBank/DDBJ databases

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification."
Goyette P. , Sumner J.S. , Milos R. , Duncan A.M.V. , Rosenblatt D.S. , Matthews R.G. , Rozen R.
Nat. Genet.7:195-200(1994) [PubMed] [Europe PMC] [Abstract]

Goyette P. , Sumner J.S. , Milos R. , Duncan A.M.V. , Rosenblatt D.S. , Matthews R.G. , Rozen R.
Nat. Genet.7:551-551(1994) [PubMed] [Europe PMC] [Abstract]

"Multiple transcription start sites and alternative splicing in the methylenetetrahydrofolate reductase gene result in two enzyme isoforms."
Tran P. , Leclerc D. , Chan M. , Pai A. , Hiou-Tim F. , Wu Q. , Goyette P. , Artigas C. , Milos R. , Rozen R.
Mamm. Genome13:483-492(2002) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
Burkard T.R. , Planyavsky M. , Kaupe I. , Breitwieser F.P. , Buerckstuemmer T. , Bennett K.L. , Superti-Furga G. , Colinge J.
BMC Syst. Biol.5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency."
Goyette P. , Frosst P. , Rosenblatt D.S. , Rozen R.
Am. J. Hum. Genet.56:1052-1059(1995) [PubMed] [Europe PMC] [Abstract]

"Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida."
van der Put N.M.J. , Steegers-Theunissen R.P.M. , Frosst P. , Trijbels F.J.M. , Eskes T.K.A.B. , van den Heuvel L.P. , Mariman E.C.M. , den Heyer M. , Rozen R. , Blom H.J.
Lancet346:1070-1071(1995) [PubMed] [Europe PMC] [Abstract]

"A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase."
Frosst P. , Blom H.J. , Milos R. , Goyette P. , Sheppard C.A. , Matthews R.G. , Boers G.J.H. , den Heijer M. , Kluijtmans L.A.J. , van den Heuvel L.P. , Rozen R.
Nat. Genet.10:111-113(1995) [PubMed] [Europe PMC] [Abstract]

"5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects."
Ou C.Y. , Stevenson R.E. , Brown V.K. , Schwartz C.E. , Allen W.P. , Khoury M.J. , Rozen R. , Oakley G.P. Jr. , Adams M.J. Jr.
Am. J. Med. Genet.63:610-614(1996) [PubMed] [Europe PMC] [Abstract]

"Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR."
Goyette P. , Christensen B. , Rosenblatt D.S. , Rozen R.
Am. J. Hum. Genet.59:1268-1275(1996) [PubMed] [Europe PMC] [Abstract]

"A methylenetetrahydrofolate reductase polymorphism and the risk of colorectal cancer."
Chen J. , Giovannucci E. , Kelsey K. , Rimm E.B. , Stampfer M.J. , Colditz G.A. , Spiegelman D. , Willett W.C. , Hunter D.J.
Cancer Res.56:4862-4864(1996) [PubMed] [Europe PMC] [Abstract]

"Worldwide distribution of a common methylenetetrahydrofolate reductase mutation."
Schneider J.A. , Rees D.C. , Liu Y.-T. , Clegg J.B.
Am. J. Hum. Genet.62:1258-1260(1998) [PubMed] [Europe PMC] [Abstract]

"A second mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?"
van der Put N.M.J. , Gabreels F. , Stevens E.M.B. , Smeitink J.A.M. , Trijbels F.J.M. , Eskes T.K.A.B. , van den Heuvel L.P. , Blom H.J.
Am. J. Hum. Genet.62:1044-1051(1998) [PubMed] [Europe PMC] [Abstract]

"Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency."
Kluijtmans L.A.J. , Wendel U. , Stevens E.M.B. , van den Heuvel L.P.W.J. , Trijbels F.J.M. , Blom H.J.
Eur. J. Hum. Genet.6:257-265(1998) [PubMed] [Europe PMC] [Abstract]

"A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity."
Weisberg I. , Tran P. , Christiensen B. , Sibani S. , Rozen R.
Mol. Genet. Metab.64:169-172(1998) [PubMed] [Europe PMC] [Abstract]

"Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects."
Christensen B. , Arbour L. , Tran P. , Leclerc D. , Sabbaghian N. , Platt R. , Gilfix B.M. , Rosenblatt D.S. , Gravel R.A. , Forbes P. , Rozen R.
Am. J. Med. Genet.84:151-157(1999) [PubMed] [Europe PMC] [Abstract]

"Polymorphisms in the methylenetetrahydrofolate reductase gene are associated with susceptibility to acute leukemia in adults."
Skibola C.F. , Smith M.T. , Kane E. , Roman E. , Rollinson S. , Cartwright R.A. , Morgan G.
Proc. Natl. Acad. Sci. U.S.A.96:12810-12815(1999) [PubMed] [Europe PMC] [Abstract]

"Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria."
Sibani S. , Christensen B. , O'Ferrall E. , Saadi I. , Hiou-Tim F. , Rosenblatt D.S. , Rozen R.
Hum. Mutat.15:280-287(2000) [PubMed] [Europe PMC] [Abstract]

"Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls."
Casas J.P. , Hingorani A.D. , Bautista L.E. , Sharma P.
Arch. Neurol.61:1652-1661(2004) [PubMed] [Europe PMC] [Abstract]

"DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome."
Ley T.J. , Mardis E.R. , Ding L. , Fulton B. , McLellan M.D. , Chen K. , Dooling D. , Dunford-Shore B.H. , McGrath S. , Hickenbotham M. , Cook L. , Abbott R. , Larson D.E. , Koboldt D.C. , Pohl C. , Smith S. , Hawkins A. , Abbott S. , Locke D. , Hillier L.W. , Miner T. , Fulton L. , Magrini V. , Wylie T. , Glasscock J. , Conyers J. , Sander N. , Shi X. , Osborne J.R. , Minx P. , Gordon D. , Chinwalla A. , Zhao Y. , Ries R.E. , Payton J.E. , Westervelt P. , Tomasson M.H. , Watson M. , Baty J. , Ivanovich J. , Heath S. , Shannon W.D. , Nagarajan R. , Walter M.J. , Link D.C. , Graubert T.A. , DiPersio J.F. , Wilson R.K. more...
Nature456:66-72(2008) [PubMed] [Europe PMC] [Abstract]