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Cardiac Genetic Predisposition in Sudden Infant Death Syndrome.
Tester DJ, Wong LCH, Chanana P, Jaye A, Evans JM, FitzPatrick DR, Evans MJ, Fleming P, Jeffrey I, Cohen MC, Tfelt-Hansen J, Simpson MA, Behr ER, Ackerman MJ. Tester DJ, et al. Among authors: simpson ma. J Am Coll Cardiol. 2018 Mar 20;71(11):1217-1227. doi: 10.1016/j.jacc.2018.01.030. J Am Coll Cardiol. 2018. PMID: 29544605 Free article.
Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.
Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM, Branney PA, Fisher M, Lee GJ, Simpson MA, He Y, Bradshaw TY, Blaumeiser B, Winship WS, Reardon W, Maher ER, FitzPatrick DR, Wuyts W, Zenker M, Lamarche-Vane N, Trembath RC. Southgate L, et al. Among authors: simpson ma. Am J Hum Genet. 2011 May 13;88(5):574-85. doi: 10.1016/j.ajhg.2011.04.013. Am J Hum Genet. 2011. PMID: 21565291 Free PMC article.
Whole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease.
Muggenthaler M, Petropoulou E, Omer S, Simpson MA, Sahak H, Rice A, Raju H, Conti FJ, Bridges LR, Anderson LJ, Sharma S, Behr ER, Jamshidi Y. Muggenthaler M, et al. Among authors: simpson ma. Int J Cardiol. 2016 May 1;210:41-4. doi: 10.1016/j.ijcard.2016.02.082. Epub 2016 Feb 13. Int J Cardiol. 2016. PMID: 26922712 Free article. No abstract available.
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.
Männikkö R, Wong L, Tester DJ, Thor MG, Sud R, Kullmann DM, Sweeney MG, Leu C, Sisodiya SM, FitzPatrick DR, Evans MJ, Jeffrey IJM, Tfelt-Hansen J, Cohen MC, Fleming PJ, Jaye A, Simpson MA, Ackerman MJ, Hanna MG, Behr ER, Matthews E. Männikkö R, et al. Among authors: simpson ma. Lancet. 2018 Apr 14;391(10129):1483-1492. doi: 10.1016/S0140-6736(18)30021-7. Epub 2018 Apr 5. Lancet. 2018. PMID: 29605429 Free PMC article.
Noncardiac genetic predisposition in sudden infant death syndrome.
Gray B, Tester DJ, Wong LC, Chanana P, Jaye A, Evans JM, Baruteau AE, Evans M, Fleming P, Jeffrey I, Cohen M, Tfelt-Hansen J, Simpson MA, Ackerman MJ, Behr ER. Gray B, et al. Among authors: simpson ma. Genet Med. 2019 Mar;21(3):641-649. doi: 10.1038/s41436-018-0131-4. Epub 2018 Aug 24. Genet Med. 2019. PMID: 30139991 Free article.
Exome-Wide Rare Variant Analyses in Sudden Infant Death Syndrome.
Tester DJ, Wong LCH, Chanana P, Gray B, Jaye A, Evans JM, Evans M, Fleming P, Jeffrey I, Cohen M, Tfelt-Hansen J, Simpson MA, Behr ER, Ackerman MJ. Tester DJ, et al. Among authors: simpson ma. J Pediatr. 2018 Dec;203:423-428.e11. doi: 10.1016/j.jpeds.2018.08.011. Epub 2018 Sep 26. J Pediatr. 2018. PMID: 30268395 Free PMC article.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Among authors: simpson ma. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
Confirmation of Cause of Death Via Comprehensive Autopsy and Whole Exome Molecular Sequencing in People With Epilepsy and Sudden Unexpected Death.
Chahal CAA, Tester DJ, Fayyaz AU, Jaliparthy K, Khan NA, Lu D, Khan M, Sahoo A, Rajendran A, Knight JA, Simpson MA, Behr ER, So EL, St Louis EK, Reichard RR, Edwards WD, Ackerman MJ, Somers VK. Chahal CAA, et al. Among authors: simpson ma. J Am Heart Assoc. 2021 Dec 7;10(23):e021170. doi: 10.1161/JAHA.121.021170. Epub 2021 Nov 24. J Am Heart Assoc. 2021. PMID: 34816733 Free PMC article.
396 results