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Items: 1 to 50 of 272

1.

A German-Jewish refugee in Vichy France 1939-1941. Arno Motulsky's memoir of life in the internment camps at St. Cyprien and Gurs.

Motulsky AG.

Am J Med Genet A. 2018 Jun;176(6):1289-1295. doi: 10.1002/ajmg.a.38701. Epub 2018 Apr 26. No abstract available.

2.

The Great Adventure of an American Human Geneticist.

Motulsky AG, King MC.

Annu Rev Genomics Hum Genet. 2016 Aug 31;17:1-15. doi: 10.1146/annurev-genom-083115-022528. Epub 2016 Apr 21.

PMID:
27147253
3.

Erythrokinetics: quantitative measurements of red cell production and destruction in normal subjects and patients with anemia.

Giblett ER, Coleman DH, Pirzio-Biroli G, Donohue DM, Motulsky AG, Finch CA.

Blood. 2016 Mar 17;127(11):1375. doi: 10.1182/blood-2016-01-692863.

PMID:
26989183
4.

Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.

Gallego CJ, Burt A, Sundaresan AS, Ye Z, Shaw C, Crosslin DR, Crane PK, Fullerton SM, Hansen K, Carrell D, Kuivaniemi H, Derr K, de Andrade M, McCarty CA, Kitchner TE, Ragon BK, Stallings SC, Papa G, Bochenek J, Smith ME, Aufox SA, Pacheco JA, Patel V, Friesema EM, Erwin AL, Gottesman O, Gerhard GS, Ritchie M, Motulsky AG, Kullo IJ, Larson EB, Tromp G, Brilliant MH, Bottinger E, Denny JC, Roden DM, Williams MS, Jarvik GP.

Am J Hum Genet. 2015 Oct 1;97(4):512-20. doi: 10.1016/j.ajhg.2015.08.008. Epub 2015 Sep 10.

5.

PLTP activity inversely correlates with CAAD: effects of PON1 enzyme activity and genetic variants on PLTP activity.

Kim DS, Burt AA, Ranchalis JE, Vuletic S, Vaisar T, Li WF, Rosenthal EA, Dong W, Eintracht JF, Motulsky AG, Brunzell JD, Albers JJ, Furlong CE, Jarvik GP.

J Lipid Res. 2015 Jul;56(7):1351-62. doi: 10.1194/jlr.P058032. Epub 2015 May 25.

6.

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP.

Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30.

7.

Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia.

Rosenthal EA, Ranchalis J, Crosslin DR, Burt A, Brunzell JD, Motulsky AG, Nickerson DA; NHLBI GO Exome Sequencing Project, Wijsman EM, Jarvik GP.

Am J Hum Genet. 2013 Dec 5;93(6):1035-45. doi: 10.1016/j.ajhg.2013.10.019. Epub 2013 Nov 21.

8.

Actionable, pathogenic incidental findings in 1,000 participants' exomes.

Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT, Kim JH, Rosenthal EA, Kim DS; National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project, Tabor HK, Bamshad MJ, Motulsky AG, Scott CR, Pritchard CC, Walsh T, Burke W, Raskind WH, Byers P, Hisama FM, Nickerson DA, Jarvik GP.

Am J Hum Genet. 2013 Oct 3;93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. Epub 2013 Sep 19.

9.

Response of serum and red blood cell folate concentrations to folic acid supplementation depends on methylenetetrahydrofolate reductase C677T genotype: results from a crossover trial.

Anderson CA, Beresford SA, McLerran D, Lampe JW, Deeb S, Feng Z, Motulsky AG.

Mol Nutr Food Res. 2013 Apr;57(4):637-44. doi: 10.1002/mnfr.201200108. Epub 2013 Mar 4.

10.

Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria.

Pierce SB, Spurrell CH, Mandell JB, Lee MK, Zeligson S, Bereman MS, Stray SM, Fokstuen S, MacCoss MJ, Levy-Lahad E, King MC, Motulsky AG.

Proc Natl Acad Sci U S A. 2011 Nov 8;108(45):18313-7. doi: 10.1073/pnas.1115888108. Epub 2011 Oct 31.

11.

Linkage and association of phospholipid transfer protein activity to LASS4.

Rosenthal EA, Ronald J, Rothstein J, Rajagopalan R, Ranchalis J, Wolfbauer G, Albers JJ, Brunzell JD, Motulsky AG, Rieder MJ, Nickerson DA, Wijsman EM, Jarvik GP.

J Lipid Res. 2011 Oct;52(10):1837-46. doi: 10.1194/jlr.P016576. Epub 2011 Jul 13.

12.

Linkage and association analyses identify a candidate region for apoB level on chromosome 4q32.3 in FCHL families.

Wijsman EM, Rothstein JH, Igo RP Jr, Brunzell JD, Motulsky AG, Jarvik GP.

Hum Genet. 2010 Jun;127(6):705-19. doi: 10.1007/s00439-010-0819-2. Epub 2010 Apr 11.

13.

Genetic and nongenetic sources of variation in phospholipid transfer protein activity.

Jarvik GP, Rajagopalan R, Rosenthal EA, Wolfbauer G, McKinstry L, Vaze A, Brunzell J, Motulsky AG, Nickerson DA, Heagerty PJ, Wijsman EM, Albers JJ.

J Lipid Res. 2010 May;51(5):983-90. doi: 10.1194/jlr.M000125. Epub 2009 Nov 2.

14.

Genome-environment interactions and prospective technology assessment: evolution from pharmacogenomics to nutrigenomics and ecogenomics.

Ozdemir V, Motulsky AG, Kolker E, Godard B.

OMICS. 2009 Feb;13(1):1-6. doi: 10.1089/omi.2009.0013. Review.

PMID:
19290807
15.

Frequent detection of familial hypercholesterolemia mutations in familial combined hyperlipidemia.

Jarvik GP, Brunzell JD, Motulsky AG.

J Am Coll Cardiol. 2008 Nov 4;52(19):1554-6. doi: 10.1016/j.jacc.2008.08.012. No abstract available.

16.

'Drug reactions, enzymes, and biochemical genetics': 50 years later.

Gurwitz D, Motulsky AG.

Pharmacogenomics. 2007 Nov;8(11):1479-84. No abstract available.

17.
18.

Genetically determined apo B levels and peak LDL density predict angiographic response to intensive lipid-lowering therapy.

Zambon A, Brown BG, Hokanson JE, Motulsky AG, Brunzell JD.

J Intern Med. 2006 Apr;259(4):401-9.

19.

Pharmacogenetics, pharmacogenomics and ecogenetics.

Motulsky AG, Qi M.

J Zhejiang Univ Sci B. 2006 Feb;7(2):169-70.

20.

Genetics of complex diseases.

Motulsky AG.

J Zhejiang Univ Sci B. 2006 Feb;7(2):167-8.

21.

Priorities and standards in pharmacogenetic research.

Need AC, Motulsky AG, Goldstein DB.

Nat Genet. 2005 Jul;37(7):671-81. Review.

PMID:
15990888
22.

Genome scan for quantitative trait loci influencing HDL levels: evidence for multilocus inheritance in familial combined hyperlipidemia.

Gagnon F, Jarvik GP, Badzioch MD, Motulsky AG, Brunzell JD, Wijsman EM.

Hum Genet. 2005 Sep;117(5):494-505. Epub 2005 Jun 16.

PMID:
15959807
23.

Equal proportion of adult male and female homozygous for the 677C --> T mutation in the methylenetetrahydrofolate reductase polymorphism.

Anderson CA, Jorgensen AL, Deeb S, McLerran D, Beresford SA, Motulsky AG.

Am J Med Genet A. 2005 Apr 1;134A(1):97-9. No abstract available.

PMID:
15704130
24.

Low-density lipoprotein particle size loci in familial combined hyperlipidemia: evidence for multiple loci from a genome scan.

Badzioch MD, Igo RP Jr, Gagnon F, Brunzell JD, Krauss RM, Motulsky AG, Wijsman EM, Jarvik GP.

Arterioscler Thromb Vasc Biol. 2004 Oct;24(10):1942-50. Epub 2004 Aug 26.

PMID:
15331429
25.

X-linked high myopia associated with cone dysfunction.

Young TL, Deeb SS, Ronan SM, Dewan AT, Alvear AB, Scavello GS, Paluru PC, Brott MS, Hayashi T, Holleschau AM, Benegas N, Schwartz M, Atwood LD, Oetting WS, Rosenberg T, Motulsky AG, King RA.

Arch Ophthalmol. 2004 Jun;122(6):897-908.

PMID:
15197065
26.

Evidence of linkage of HDL level variation to APOC3 in two samples with different ascertainment.

Gagnon F, Jarvik GP, Motulsky AG, Deeb SS, Brunzell JD, Wijsman EM.

Hum Genet. 2003 Nov;113(6):522-33. Epub 2003 Aug 29.

PMID:
14569462
27.

Genome-wide scan for quantitative trait loci influencing LDL size and plasma triglyceride in familial hypertriglyceridemia.

Austin MA, Edwards KL, Monks SA, Koprowicz KM, Brunzell JD, Motulsky AG, Mahaney MC, Hixson JE.

J Lipid Res. 2003 Nov;44(11):2161-8. Epub 2003 Aug 16.

28.

Small, dense LDL and elevated apolipoprotein B are the common characteristics for the three major lipid phenotypes of familial combined hyperlipidemia.

Ayyobi AF, McGladdery SH, McNeely MJ, Austin MA, Motulsky AG, Brunzell JD.

Arterioscler Thromb Vasc Biol. 2003 Jul 1;23(7):1289-94. Epub 2003 May 15.

PMID:
12750118
29.

Human genetics. Mapping human history.

King MC, Motulsky AG.

Science. 2002 Dec 20;298(5602):2342-3. No abstract available.

PMID:
12493903
30.

Letter to the Editor: Reply to Becker and Morgan.

Bennett RL, Motulsky AG, Bittles AH.

J Genet Couns. 2002 Oct;11(5):427-8. doi: 10.1023/A:1016802017314. No abstract available.

PMID:
26142135
31.

Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors.

Bennett RL, Motulsky AG, Bittles A, Hudgins L, Uhrich S, Doyle DL, Silvey K, Scott CR, Cheng E, McGillivray B, Steiner RD, Olson D.

J Genet Couns. 2002 Apr;11(2):97-119. doi: 10.1023/A:1014593404915.

PMID:
26141656
32.

2001 William Allan Award Address. Introductory speech for Charles J. Epstein.

Motulsky AG.

Am J Hum Genet. 2002 Feb;70(2):297-9. Epub 2001 Dec 20. No abstract available.

33.

Lipoprotein and apolipoprotein abnormalities in familial combined hyperlipidemia: a 20-year prospective study.

McNeely MJ, Edwards KL, Marcovina SM, Brunzell JD, Motulsky AG, Austin MA.

Atherosclerosis. 2001 Dec;159(2):471-81.

PMID:
11730829
34.

Lipoprotein(a) as a risk factor for maternal cardiovascular disease mortality in kindreds with familial combined hyperlipidemia or familial hypertriglyceridemia.

Kim H, Marcovina SM, Edwards KL, McKnight B, Bradley CM, McNeely MJ, Psaty BM, Motulsky AG, Austin MA.

Clin Genet. 2001 Sep;60(3):188-97.

PMID:
11595020
35.
36.

Phylogenetic relationships of human populations in sub-Saharan Africa.

Weber W, Nash DJ, Motulsky AG, Henneberg M, Crawford MH, Martin SK, Goldsmid JM, Spedini G, Glidewell S, Schanfield MS.

Hum Biol. 2000 Oct;72(5):753-72.

PMID:
11126723
37.

Population screening in hereditary hemochromatosis.

Motulsky AG, Beutler E.

Annu Rev Public Health. 2000;21:65-79. Review.

PMID:
10884946
38.

Cardiovascular disease mortality in familial forms of hypertriglyceridemia: A 20-year prospective study.

Austin MA, McKnight B, Edwards KL, Bradley CM, McNeely MJ, Psaty BM, Brunzell JD, Motulsky AG.

Circulation. 2000 Jun 20;101(24):2777-82.

PMID:
10859281
39.

1999 ASHG Award for Excellence in Education. Some future directions in medical genetics.

Motulsky AG.

Am J Hum Genet. 2000 Apr;66(4):1190-1. No abstract available.

40.

Pleiotropic genetic effects on LDL size, plasma triglyceride, and HDL cholesterol in families.

Edwards KL, Mahaney MC, Motulsky AG, Austin MA.

Arterioscler Thromb Vasc Biol. 1999 Oct;19(10):2456-64.

PMID:
10521376
41.

If I had a gene test, what would I have and who would I tell?

Motulsky AG.

Lancet. 1999 Jul;354 Suppl 1:SI35-7. No abstract available.

PMID:
10437855
42.

Analysis of red/green color discrimination in subjects with a single X-linked photopigment gene.

Crognale MA, Teller DY, Yamaguchi T, Motulsky AG, Deeb SS.

Vision Res. 1999 Feb;39(4):707-19.

43.

Position of a 'green-red' hybrid gene in the visual pigment array determines colour-vision phenotype.

Hayashi T, Motulsky AG, Deeb SS.

Nat Genet. 1999 May;22(1):90-3.

PMID:
10319869
44.

Severity of color vision defects: electroretinographic (ERG), molecular and behavioral studies.

Crognale MA, Teller DY, Motulsky AG, Deeb SS.

Vision Res. 1998 Nov;38(21):3377-85.

45.

Hereditary hemochromatosis: gene discovery and its implications for population-based screening.

Burke W, Thomson E, Khoury MJ, McDonnell SM, Press N, Adams PC, Barton JC, Beutler E, Brittenham G, Buchanan A, Clayton EW, Cogswell ME, Meslin EM, Motulsky AG, Powell LW, Sigal E, Wilfond BS, Collins FS.

JAMA. 1998 Jul 8;280(2):172-8. Review.

PMID:
9669792
46.

Preventing coronary heart disease: B vitamins and homocysteine.

Omenn GS, Beresford SA, Motulsky AG.

Circulation. 1998 Feb 10;97(5):421-4. No abstract available.

PMID:
9490234
47.

Evidence against linkage of familial combined hyperlipidemia to the apolipoprotein AI-CIII-AIV gene complex.

Wijsman EM, Brunzell JD, Jarvik GP, Austin MA, Motulsky AG, Deeb SS.

Arterioscler Thromb Vasc Biol. 1998 Feb;18(2):215-26.

PMID:
9484986
48.

Visual pigment gene structure and expression in human retinae.

Yamaguchi T, Motulsky AG, Deeb SS.

Hum Mol Genet. 1997 Jul;6(7):981-90.

PMID:
9215665
49.

Screening for genetic diseases.

Motulsky AG.

N Engl J Med. 1997 May 1;336(18):1314-6. No abstract available.

PMID:
9113938
50.

Werner syndrome: entering the helicase era.

Epstein CJ, Motulsky AG.

Bioessays. 1996 Dec;18(12):1025-7. Review.

PMID:
8976161

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