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Rod bipolar cell dysfunction in POLG retinopathy.
Sanderson KG, Millar E, Tumber A, Klatt R, Sondheimer N, Vincent A. Sanderson KG, et al. Among authors: sondheimer n. Doc Ophthalmol. 2021 Feb;142(1):111-118. doi: 10.1007/s10633-020-09777-w. Epub 2020 Jun 21. Doc Ophthalmol. 2021. PMID: 32567010
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. Lionel AC, et al. Among authors: sondheimer n. Genet Med. 2018 Apr;20(4):435-443. doi: 10.1038/gim.2017.119. Epub 2017 Aug 3. Genet Med. 2018. PMID: 28771251 Free PMC article.
Nuclear genome-wide associations with mitochondrial heteroplasmy.
Nandakumar P, Tian C, O'Connell J; 23andMe Research Team; Hinds D, Paterson AD, Sondheimer N. Nandakumar P, et al. Among authors: sondheimer n. Sci Adv. 2021 Mar 17;7(12):eabe7520. doi: 10.1126/sciadv.abe7520. Print 2021 Mar. Sci Adv. 2021. PMID: 33731350 Free PMC article.
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. Costain G, et al. Among authors: sondheimer n. Eur J Hum Genet. 2018 May;26(5):740-744. doi: 10.1038/s41431-018-0114-6. Epub 2018 Feb 16. Eur J Hum Genet. 2018. PMID: 29453418 Free PMC article.
G-quadruplex-mediated reduction of a pathogenic mitochondrial heteroplasmy.
Naeem MM, Maheshan R, Costford SR, Wahedi A, Trajkovski M, Plavec J, Yatsunyk LA, Ciesielski GL, Kaufman BA, Sondheimer N. Naeem MM, et al. Among authors: sondheimer n. Hum Mol Genet. 2019 Oct 1;28(19):3163-3174. doi: 10.1093/hmg/ddz153. Hum Mol Genet. 2019. PMID: 31261379
A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.
Lines MA, Cuillerier A, Chakraborty P, Naas T, Duque Lasio ML, Michaud J, Pileggi C, Harper ME, Burelle Y, Toler TL, Sondheimer N, Crawford HP, Millan F, Geraghty MT. Lines MA, et al. Among authors: sondheimer n. Eur J Hum Genet. 2021 Nov;29(11):1719-1724. doi: 10.1038/s41431-021-00956-0. Epub 2021 Sep 6. Eur J Hum Genet. 2021. PMID: 34483339 Free PMC article.
Reversal of Stroke-Like Episodes With L-Arginine and Meticulous Perioperative Management of Renal Transplantation in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome. Case Report.
Al Yazidi G, Mulder J, Licht C, Harvey E, Robertson J, Sondheimer N, Tein I. Al Yazidi G, et al. Among authors: sondheimer n. Neurohospitalist. 2022 Jan;12(1):67-73. doi: 10.1177/19418744211000512. Epub 2021 Mar 15. Neurohospitalist. 2022. PMID: 34950389 Free PMC article.
84 results