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Items: 47

1.

DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis.

Veenma D, Cordeiro D, Sondheimer N, Mercimek-Andrews S.

Eur J Hum Genet. 2018 Aug 23. doi: 10.1038/s41431-018-0237-9. [Epub ahead of print]

PMID:
30139987
2.

Reply.

Sondheimer N, Kaufman B, Picard M.

Environ Mol Mutagen. 2018 Mar 14. doi: 10.1002/em.22181. [Epub ahead of print] No abstract available.

PMID:
29536566
3.

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.

Costain G, Jobling R, Walker S, Reuter MS, Snell M, Bowdin S, Cohn RD, Dupuis L, Hewson S, Mercimek-Andrews S, Shuman C, Sondheimer N, Weksberg R, Yoon G, Meyn MS, Stavropoulos DJ, Scherer SW, Mendoza-Londono R, Marshall CR.

Eur J Hum Genet. 2018 May;26(5):740-744. doi: 10.1038/s41431-018-0114-6. Epub 2018 Feb 16.

PMID:
29453418
4.

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

Reuter MS, Walker S, Thiruvahindrapuram B, Whitney J, Cohn I, Sondheimer N, Yuen RKC, Trost B, Paton TA, Pereira SL, Herbrick JA, Wintle RF, Merico D, Howe J, MacDonald JR, Lu C, Nalpathamkalam T, Sung WWL, Wang Z, Patel RV, Pellecchia G, Wei J, Strug LJ, Bell S, Kellam B, Mahtani MM, Bassett AS, Bombard Y, Weksberg R, Shuman C, Cohn RD, Stavropoulos DJ, Bowdin S, Hildebrandt MR, Wei W, Romm A, Pasceri P, Ellis J, Ray P, Meyn MS, Monfared N, Hosseini SM, Joseph-George AM, Keeley FW, Cook RA, Fiume M, Lee HC, Marshall CR, Davies J, Hazell A, Buchanan JA, Szego MJ, Scherer SW.

CMAJ. 2018 Feb 5;190(5):E126-E136. doi: 10.1503/cmaj.171151.

5.

Mitochondrial DNA, nuclear context, and the risk for carcinogenesis.

Kaufman BA, Picard M, Sondheimer N.

Environ Mol Mutagen. 2018 Jan 14. doi: 10.1002/em.22169. [Epub ahead of print] Review.

PMID:
29332303
6.

Divergent Patterns of Mitochondrial and Nuclear Ancestry Are Associated with the Risk for Preterm Birth.

Crawford N, Prendergast D, Oehlert JW, Shaw GM, Stevenson DK, Rappaport N, Sirota M, Tishkoff SA, Sondheimer N.

J Pediatr. 2018 Mar;194:40-46.e4. doi: 10.1016/j.jpeds.2017.10.052. Epub 2017 Dec 14.

7.

Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP.

Sonney S, Leipzig J, Lott MT, Zhang S, Procaccio V, Wallace DC, Sondheimer N.

PLoS Comput Biol. 2017 Dec 11;13(12):e1005867. doi: 10.1371/journal.pcbi.1005867. eCollection 2017 Dec.

8.

DNM1L Variant Alters Baseline Mitochondrial Function and Response to Stress in a Patient with Severe Neurological Dysfunction.

Hogarth KA, Costford SR, Yoon G, Sondheimer N, Maynes JT.

Biochem Genet. 2018 Apr;56(1-2):56-77. doi: 10.1007/s10528-017-9829-2. Epub 2017 Nov 6.

PMID:
29110115
9.

Red Blood Cells Homeostatically Bind Mitochondrial DNA through TLR9 to Maintain Quiescence and to Prevent Lung Injury.

Hotz MJ, Qing D, Shashaty MGS, Zhang P, Faust H, Sondheimer N, Rivella S, Worthen GS, Mangalmurti NS.

Am J Respir Crit Care Med. 2018 Feb 15;197(4):470-480. doi: 10.1164/rccm.201706-1161OC.

PMID:
29053005
10.

Topological requirements of the mitochondrial heavy-strand promoters.

Zollo O, Sondheimer N.

Transcription. 2017;8(5):307-312. doi: 10.1080/21541264.2017.1331156. Epub 2017 Aug 25.

11.

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR.

Genet Med. 2018 Apr;20(4):435-443. doi: 10.1038/gim.2017.119. Epub 2017 Aug 3.

12.

Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency.

Sondheimer N, Hewson S, Cameron JM, Somers GR, Broadbent JD, Ziosi M, Quinzii CM, Naini AB.

Mol Genet Metab Rep. 2017 May 11;12:23-27. doi: 10.1016/j.ymgmr.2017.05.001. eCollection 2017 Sep.

13.

Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1.

Ahrens-Nicklas RC, Umanah GK, Sondheimer N, Deardorff MA, Wilkens AB, Conlin LK, Santani AB, Nesbitt A, Juulsola J, Ma E, Dawson TM, Dawson VL, Marsh ED.

Neurol Genet. 2017 Feb 1;3(1):e130. doi: 10.1212/NXG.0000000000000130. eCollection 2017 Feb.

14.

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.

Assoum M, Philippe C, Isidor B, Perrin L, Makrythanasis P, Sondheimer N, Paris C, Douglas J, Lesca G, Antonarakis S, Hamamy H, Jouan T, Duffourd Y, Auvin S, Saunier A, Begtrup A, Nowak C, Chatron N, Ville D, Mireskandari K, Milani P, Jonveaux P, Lemeur G, Milh M, Amamoto M, Kato M, Nakashima M, Miyake N, Matsumoto N, Masri A, Thauvin-Robinet C, Rivière JB, Faivre L, Thevenon J.

Am J Hum Genet. 2016 Dec 1;99(6):1368-1376. doi: 10.1016/j.ajhg.2016.10.009. Epub 2016 Nov 23.

15.

Natural and Induced Mitochondrial Phosphate Carrier Loss: DIFFERENTIAL DEPENDENCE OF MITOCHONDRIAL METABOLISM AND DYNAMICS AND CELL SURVIVAL ON THE EXTENT OF DEPLETION.

Seifert EL, Gál A, Acoba MG, Li Q, Anderson-Pullinger L, Golenár T, Moffat C, Sondheimer N, Claypool SM, Hajnóczky G.

J Biol Chem. 2016 Dec 9;291(50):26126-26137. Epub 2016 Oct 25.

16.

EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features.

Ganetzky R, Finn E, Bagchi A, Zollo O, Conlin L, Deardorff M, Harr M, Simpson MA, McGrath JA, Zackai E, Lemmon MA, Sondheimer N.

Mol Genet Genomic Med. 2015 Sep;3(5):452-8. doi: 10.1002/mgg3.156. Epub 2015 Jun 4.

17.

The mitochondrial phosphate carrier: Role in oxidative metabolism, calcium handling and mitochondrial disease.

Seifert EL, Ligeti E, Mayr JA, Sondheimer N, Hajnóczky G.

Biochem Biophys Res Commun. 2015 Aug 21;464(2):369-75. doi: 10.1016/j.bbrc.2015.06.031. Epub 2015 Jun 16. Review.

PMID:
26091567
18.

Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis.

Bhoj EJ, Li M, Ahrens-Nicklas R, Pyle LC, Wang J, Zhang VW, Clarke C, Wong LJ, Sondheimer N, Ficicioglu C, Yudkoff M.

JIMD Rep. 2015;19:59-66. doi: 10.1007/8904_2014_364. Epub 2015 Feb 15.

19.

Kidney transplantation from a deceased donor with metachromatic leukodystrophy.

Sondheimer N, Soundararajan S, Koutzaki SH, Doyle AM.

Transplantation. 2014 Apr 15;97(7):e42-4. doi: 10.1097/TP.0000000000000052. No abstract available.

PMID:
24686430
20.

Analysis of cerebrospinal fluid mitochondrial DNA levels in Alzheimer disease.

Sondheimer N, Zollo O, Van Deerlin V, Trojanowski JQ.

Ann Neurol. 2014 Mar;75(3):458-60. doi: 10.1002/ana.24107. Epub 2014 Mar 7. No abstract available.

PMID:
24424574
21.

How patients can improve the accuracy of their medical records.

Dullabh PM, Sondheimer NK, Katsh E, Evans MA.

EGEMS (Wash DC). 2014 Oct 1;2(3):1080. doi: 10.13063/2327-9214.1080. eCollection 2014.

22.

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.

Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong LJ, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ, Zeviani M.

Am J Hum Genet. 2013 Sep 5;93(3):482-95. doi: 10.1016/j.ajhg.2013.07.016. Epub 2013 Aug 29.

23.

Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites.

Clarke C, Xiao R, Place E, Zhang Z, Sondheimer N, Bennett M, Yudkoff M, Falk MJ.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):145-52. doi: 10.1016/j.ymgme.2013.07.011. Epub 2013 Jul 19.

24.

Improving surveillance for hyperammonemia in the newborn.

Vergano SA, Crossette JM, Cusick FC, Desai BR, Deardorff MA, Sondheimer N.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):102-5. doi: 10.1016/j.ymgme.2013.05.005. Epub 2013 May 18.

25.

Newborn screening by sequence and the road ahead.

Sondheimer N.

Clin Chem. 2013 Jul;59(7):1011-3. doi: 10.1373/clinchem.2013.205864. Epub 2013 Mar 25. No abstract available.

26.

High-dose continuous renal replacement therapy for neonatal hyperammonemia.

Spinale JM, Laskin BL, Sondheimer N, Swartz SJ, Goldstein SL.

Pediatr Nephrol. 2013 Jun;28(6):983-6. doi: 10.1007/s00467-013-2441-8. Epub 2013 Mar 8.

27.

Mitochondrial tRNA(Phe) mutation as a cause of end-stage renal disease in childhood.

D'Aco KE, Manno M, Clarke C, Ganesh J, Meyers KE, Sondheimer N.

Pediatr Nephrol. 2013 Mar;28(3):515-9. doi: 10.1007/s00467-012-2354-y. Epub 2012 Nov 8.

28.

Modeling kinetic rate variation in third generation DNA sequencing data to detect putative modifications to DNA bases.

Schadt EE, Banerjee O, Fang G, Feng Z, Wong WH, Zhang X, Kislyuk A, Clark TA, Luong K, Keren-Paz A, Chess A, Kumar V, Chen-Plotkin A, Sondheimer N, Korlach J, Kasarskis A.

Genome Res. 2013 Jan;23(1):129-41. doi: 10.1101/gr.136739.111. Epub 2012 Oct 23.

29.

Transcriptional requirements of the distal heavy-strand promoter of mtDNA.

Zollo O, Tiranti V, Sondheimer N.

Proc Natl Acad Sci U S A. 2012 Apr 24;109(17):6508-12. doi: 10.1073/pnas.1118594109. Epub 2012 Mar 27.

30.

Lack of relationship between mitochondrial heteroplasmy or variation and childhood obesity.

Grant SF, Glessner JT, Bradfield JP, Zhao J, Tirone JE, Berkowitz RI, Hakonarson H, Sondheimer N.

Int J Obes (Lond). 2012 Jan;36(1):80-3. doi: 10.1038/ijo.2011.206. Epub 2011 Oct 18.

PMID:
22005716
31.

Mutation in the mitochondrial tRNA(Val) causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes.

Glatz C, D'Aco K, Smith S, Sondheimer N.

Mitochondrion. 2011 Jul;11(4):615-9. doi: 10.1016/j.mito.2011.04.003. Epub 2011 Apr 20.

32.

Neutral mitochondrial heteroplasmy and the influence of aging.

Sondheimer N, Glatz CE, Tirone JE, Deardorff MA, Krieger AM, Hakonarson H.

Hum Mol Genet. 2011 Apr 15;20(8):1653-9. doi: 10.1093/hmg/ddr043. Epub 2011 Feb 4.

33.

Mitochondrial genetic diseases.

Falk MJ, Sondheimer N.

Curr Opin Pediatr. 2010 Dec;22(6):711-6. doi: 10.1097/MOP.0b013e3283402e21. Review.

34.

Leucine-rich pentatricopeptide-repeat containing protein regulates mitochondrial transcription.

Sondheimer N, Fang JK, Polyak E, Falk MJ, Avadhani NG.

Biochemistry. 2010 Sep 7;49(35):7467-73. doi: 10.1021/bi1008479.

35.

Role of calcineurin, hnRNPA2 and Akt in mitochondrial respiratory stress-mediated transcription activation of nuclear gene targets.

Guha M, Tang W, Sondheimer N, Avadhani NG.

Biochim Biophys Acta. 2010 Jun-Jul;1797(6-7):1055-65. doi: 10.1016/j.bbabio.2010.02.008. Epub 2010 Feb 11.

36.

Dispute resolution. Planning for disputed information in EHRs and PHRs.

Washington L, Katsh E, Sondheimer N.

J AHIMA. 2009 Nov-Dec;80(11):26-30; quiz 32. No abstract available.

PMID:
19953790
37.

Increased C3-carnitine in a healthy premature infant.

Chapman KA, Bennett MJ, Sondheimer N.

Clin Chem. 2008 Nov;54(11):1914-7; discussion 1917-8. doi: 10.1373/clinchem.2008.107581. No abstract available.

38.

Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases.

Deardorff MA, Gaddipati H, Kaplan P, Sanchez-Lara PA, Sondheimer N, Spinner NB, Hakonarson H, Ficicioglu C, Ganesh J, Markello T, Loechelt B, Zand DJ, Yudkoff M, Lichter-Konecki U.

Mol Genet Metab. 2008 Aug;94(4):498-502. doi: 10.1016/j.ymgme.2008.04.011. Epub 2008 Jun 3.

39.

A distinctive physiological role for IkappaBbeta in the propagation of mitochondrial respiratory stress signaling.

Biswas G, Tang W, Sondheimer N, Guha M, Bansal S, Avadhani NG.

J Biol Chem. 2008 May 2;283(18):12586-94. doi: 10.1074/jbc.M710481200. Epub 2008 Feb 13.

40.

The value of the metabolic autopsy in the pediatric hospital setting.

Ernst LM, Sondheimer N, Deardorff MA, Bennett MJ, Pawel BR.

J Pediatr. 2006 Jun;148(6):779-83.

PMID:
16769386
41.

Changes in the middle region of Sup35 profoundly alter the nature of epigenetic inheritance for the yeast prion [PSI+].

Liu JJ, Sondheimer N, Lindquist SL.

Proc Natl Acad Sci U S A. 2002 Dec 10;99 Suppl 4:16446-53. Epub 2002 Dec 2.

42.

The role of Sis1 in the maintenance of the [RNQ+] prion.

Sondheimer N, Lopez N, Craig EA, Lindquist S.

EMBO J. 2001 May 15;20(10):2435-42.

43.

Investigating protein conformation-based inheritance and disease in yeast.

Lindquist S, Krobitsch S, Li L, Sondheimer N.

Philos Trans R Soc Lond B Biol Sci. 2001 Feb 28;356(1406):169-76. Review.

44.

Polyglutamine aggregates alter protein folding homeostasis in Caenorhabditis elegans.

Satyal SH, Schmidt E, Kitagawa K, Sondheimer N, Lindquist S, Kramer JM, Morimoto RI.

Proc Natl Acad Sci U S A. 2000 May 23;97(11):5750-5.

45.

Rnq1: an epigenetic modifier of protein function in yeast.

Sondheimer N, Lindquist S.

Mol Cell. 2000 Jan;5(1):163-72.

46.

Hepatic oxidant injury and glutathione depletion during total parenteral nutrition in weanling rats.

Sokol RJ, Taylor SF, Devereaux MW, Khandwala R, Sondheimer NJ, Shikes RH, Mierau G.

Am J Physiol. 1996 Apr;270(4 Pt 1):G691-700.

PMID:
8928800
47.

Effect of vitamin E on transport processes in isolated rat hepatocytes.

Sokol RJ, Devereaux MW, Khandwala RA, Narkewicz MR, Sondheimer NJ.

J Pediatr Gastroenterol Nutr. 1990 Aug;11(2):261-7.

PMID:
2395066

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