Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 33

1.

Parents of newborns in the NICU enrolled in genome sequencing research: hopeful, but not naïve.

Berrios C, Koertje C, Noel-MacDonnell J, Soden S, Lantos J.

Genet Med. 2019 Aug 30. doi: 10.1038/s41436-019-0644-5. [Epub ahead of print]

PMID:
31467447
2.

Using dried blood spots for variant analysis for patients with haemophilia.

Amos LE, Yoo B, Miller N, Farrow EG, Walter A, Gibson M, Durham S, Herd S, Soden S, Carpenter SL.

Haemophilia. 2019 Jul 30. doi: 10.1111/hae.13824. [Epub ahead of print] No abstract available.

PMID:
31361374
3.

On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing.

Thiffault I, Cadieux-Dion M, Farrow E, Caylor R, Miller N, Soden S, Saunders C.

Hum Mutat. 2018 Nov;39(11):1505-1516. doi: 10.1002/humu.23646.

PMID:
30311385
4.

Clinical genome sequencing in an unbiased pediatric cohort.

Thiffault I, Farrow E, Zellmer L, Berrios C, Miller N, Gibson M, Caylor R, Jenkins J, Faller D, Soden S, Saunders C.

Genet Med. 2019 Feb;21(2):303-310. doi: 10.1038/s41436-018-0075-8. Epub 2018 Jul 16.

PMID:
30008475
5.

Correction to: Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings.

Caylor RC, Grote L, Thiffault I, Farrow EG, Willig L, Soden S, Amudhavalli SM, Nopper AJ, Horii KA, Fleming E, Jenkins J, Welsh H, Ilyas M, Engleman K, Abdelmoity A, Saunders CJ.

Neurogenetics. 2018 Dec;19(4):261-262. doi: 10.1007/s10048-018-0554-8.

PMID:
29992365
6.

Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings.

Caylor RC, Grote L, Thiffault I, Farrow EG, Willig L, Soden S, Amudhavalli SM, Nopper AJ, Horii KA, Fleming E, Jenkins J, Welsh H, Ilyas M, Engleman K, Abdelmoity A, Saunders CJ.

Neurogenetics. 2018 Aug;19(3):205-213. doi: 10.1007/s10048-018-0551-y. Epub 2018 Jun 20. Erratum in: Neurogenetics. 2018 Jul 11;:.

PMID:
29926239
7.

Erratum: Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences.

Twist GP, Gaedigk A, Miller NA, Farrow EG, Willig LK, Dinwiddie DL, Petrikin JE, Soden SE, Herd S, Gibson M, Cakici JA, Riffel AK, Leeder JS, Dinakarpandian D, Kingsmore SF.

NPJ Genom Med. 2017 Jan 11;2:16039. doi: 10.1038/npjgenmed.2016.39. eCollection 2017.

8.

Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.

Thiffault I, Zuccarelli B, Welsh H, Yuan X, Farrow E, Zellmer L, Miller N, Soden S, Abdelmoity A, Brodsky RA, Saunders C.

BMC Med Genet. 2017 Nov 2;18(1):124. doi: 10.1186/s12881-017-0481-9.

9.

GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant.

Giddens MM, Wong JC, Schroeder JP, Farrow EG, Smith BM, Owino S, Soden SE, Meyer RC, Saunders C, LePichon JB, Weinshenker D, Escayg A, Hall RA.

Neurobiol Dis. 2017 Oct;106:181-190. doi: 10.1016/j.nbd.2017.07.006. Epub 2017 Jul 6.

10.

In vivo characterization of CYP2D6*12, *29 and *84 using dextromethorphan as a probe drug: a case report.

Gaedigk A, Twist GP, Farrow EG, Lowry JA, Soden SE, Miller NA.

Pharmacogenomics. 2017 Apr;18(5):427-431. doi: 10.2217/pgs-2016-0192. Epub 2017 Mar 14.

11.

Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.

Job F, Mizumoto S, Smith L, Couser N, Brazil A, Saal H, Patterson M, Gibson MI, Soden S, Miller N, Thiffault I, Saunders C, Yamada S, Hoffmann K, Sugahara K, Farrow E.

BMC Med Genet. 2016 Nov 21;17(1):86.

12.

PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.

Thiffault I, Farrow E, Smith L, Lowry J, Zellmer L, Black B, Abdelmoity A, Miller N, Soden S, Saunders C.

Am J Med Genet A. 2016 Jun;170(6):1585-9. doi: 10.1002/ajmg.a.37617. Epub 2016 Mar 26.

PMID:
27016041
13.

Clinical and Pharmacologic Considerations for Guanfacine Use in Very Young Children.

Black BT, Soden SE, Kearns GL, Jones BL.

J Child Adolesc Psychopharmacol. 2016 Aug;26(6):498-504. doi: 10.1089/cap.2014.0159. Epub 2016 Feb 19. Review.

PMID:
26894823
14.

Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences.

Twist GP, Gaedigk A, Miller NA, Farrow EG, Willig LK, Dinwiddie DL, Petrikin JE, Soden SE, Herd S, Gibson M, Cakici JA, Riffel AK, Leeder JS, Dinakarpandian D, Kingsmore SF.

NPJ Genom Med. 2016 Jan 13;1:15007. doi: 10.1038/npjgenmed.2015.7. eCollection 2016. Erratum in: NPJ Genom Med. 2017 Jan 11;2:16039.

15.

A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.

Thiffault I, Speca DJ, Austin DC, Cobb MM, Eum KS, Safina NP, Grote L, Farrow EG, Miller N, Soden S, Kingsmore SF, Trimmer JS, Saunders CJ, Sack JT.

J Gen Physiol. 2015 Nov;146(5):399-410. doi: 10.1085/jgp.201511444.

16.

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.

Miller NA, Farrow EG, Gibson M, Willig LK, Twist G, Yoo B, Marrs T, Corder S, Krivohlavek L, Walter A, Petrikin JE, Saunders CJ, Thiffault I, Soden SE, Smith LD, Dinwiddie DL, Herd S, Cakici JA, Catreux S, Ruehle M, Kingsmore SF.

Genome Med. 2015 Sep 30;7:100. doi: 10.1186/s13073-015-0221-8.

17.

The Future of Next-Generation Sequencing in Neurology.

LePichon JB, Saunders CJ, Soden SE.

JAMA Neurol. 2015 Sep;72(9):971-2. doi: 10.1001/jamaneurol.2015.1076. No abstract available.

PMID:
26148113
18.

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.

Willig LK, Petrikin JE, Smith LD, Saunders CJ, Thiffault I, Miller NA, Soden SE, Cakici JA, Herd SM, Twist G, Noll A, Creed M, Alba PM, Carpenter SL, Clements MA, Fischer RT, Hays JA, Kilbride H, McDonough RJ, Rosterman JL, Tsai SL, Zellmer L, Farrow EG, Kingsmore SF.

Lancet Respir Med. 2015 May;3(5):377-87. doi: 10.1016/S2213-2600(15)00139-3. Epub 2015 Apr 27.

19.

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

Soden SE, Saunders CJ, Willig LK, Farrow EG, Smith LD, Petrikin JE, LePichon JB, Miller NA, Thiffault I, Dinwiddie DL, Twist G, Noll A, Heese BA, Zellmer L, Atherton AM, Abdelmoity AT, Safina N, Nyp SS, Zuccarelli B, Larson IA, Modrcin A, Herd S, Creed M, Ye Z, Yuan X, Brodsky RA, Kingsmore SF.

Sci Transl Med. 2014 Dec 3;6(265):265ra168. doi: 10.1126/scitranslmed.3010076.

20.

Utility of next generation sequencing in clinical primary immunodeficiencies.

Raje N, Soden S, Swanson D, Ciaccio CE, Kingsmore SF, Dinwiddie DL.

Curr Allergy Asthma Rep. 2014 Oct;14(10):468. doi: 10.1007/s11882-014-0468-y.

21.

Individualizing the use of medications in children: making Goldilocks happy.

Leeder JS, Brown JT, Soden SE.

Clin Pharmacol Ther. 2014 Sep;96(3):304-6. doi: 10.1038/clpt.2014.130. Epub 2014 Jun 13.

PMID:
24926777
22.

De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.

Dinwiddie DL, Soden SE, Saunders CJ, Miller NA, Farrow EG, Smith LD, Kingsmore SF.

BMC Med Genomics. 2013 Sep 17;6:32. doi: 10.1186/1755-8794-6-32.

23.

Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing.

Dinwiddie DL, Bracken JM, Bass JA, Christenson K, Soden SE, Saunders CJ, Miller NA, Singh V, Zwick DL, Roberts CC, Dalal J, Kingsmore SF.

Genomics. 2013 Nov-Dec;102(5-6):442-7. doi: 10.1016/j.ygeno.2013.08.008. Epub 2013 Aug 31.

24.

An integrated clinico-metabolomic model improves prediction of death in sepsis.

Langley RJ, Tsalik EL, van Velkinburgh JC, Glickman SW, Rice BJ, Wang C, Chen B, Carin L, Suarez A, Mohney RP, Freeman DH, Wang M, You J, Wulff J, Thompson JW, Moseley MA, Reisinger S, Edmonds BT, Grinnell B, Nelson DR, Dinwiddie DL, Miller NA, Saunders CJ, Soden SS, Rogers AJ, Gazourian L, Fredenburgh LE, Massaro AF, Baron RM, Choi AM, Corey GR, Ginsburg GS, Cairns CB, Otero RM, Fowler VG Jr, Rivers EP, Woods CW, Kingsmore SF.

Sci Transl Med. 2013 Jul 24;5(195):195ra95. doi: 10.1126/scitranslmed.3005893.

25.

Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.

Dinwiddie DL, Smith LD, Miller NA, Atherton AM, Farrow EG, Strenk ME, Soden SE, Saunders CJ, Kingsmore SF.

Genomics. 2013 Sep;102(3):148-56. doi: 10.1016/j.ygeno.2013.04.013. Epub 2013 Apr 28.

26.

Genomic medicine: evolving science, evolving ethics.

Soden SE, Farrow EG, Saunders CJ, Lantos JD.

Per Med. 2012;9(5):523-528.

27.

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.

Saunders CJ, Miller NA, Soden SE, Dinwiddie DL, Noll A, Alnadi NA, Andraws N, Patterson ML, Krivohlavek LA, Fellis J, Humphray S, Saffrey P, Kingsbury Z, Weir JC, Betley J, Grocock RJ, Margulies EH, Farrow EG, Artman M, Safina NP, Petrikin JE, Hall KP, Kingsmore SF.

Sci Transl Med. 2012 Oct 3;4(154):154ra135. doi: 10.1126/scitranslmed.3004041.

28.

Nutrition, physical activity, and bone mineral density in youth with autistic spectrum disorders.

Soden SE, Garrison CB, Egan AM, Beckwith AM.

J Dev Behav Pediatr. 2012 Oct;33(8):618-24. doi: 10.1097/DBP.0b013e318260943c.

PMID:
23027134
29.

15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features.

Abdelmoity AT, LePichon JB, Nyp SS, Soden SE, Daniel CA, Yu S.

J Dev Behav Pediatr. 2012 Sep;33(7):570-6. doi: 10.1097/DBP.0b013e31826052ae.

PMID:
22922608
30.

Next-generation community genetics for low- and middle-income countries.

Kingsmore SF, Lantos JD, Dinwiddie DL, Miller NA, Soden SE, Farrow EG, Saunders CJ.

Genome Med. 2012 Mar 29;4(3):25. doi: 10.1186/gm324. eCollection 2012.

31.

Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing.

Kingsmore SF, Dinwiddie DL, Miller NA, Soden SE, Saunders CJ.

Expert Rev Mol Diagn. 2011 Nov;11(8):855-68. doi: 10.1586/erm.11.70. Review.

32.

24-hour provoked urine excretion test for heavy metals in children with autism and typically developing controls, a pilot study.

Soden SE, Lowry JA, Garrison CB, Wasserman GS.

Clin Toxicol (Phila). 2007 Jun-Aug;45(5):476-81.

PMID:
17503250
33.

A 9-month-old baby with subdural hematomas, retinal hemorrhages, and developmental delay.

Knapp JF, Soden SE, Dasouki MJ, Walsh IR.

Pediatr Emerg Care. 2002 Feb;18(1):44-7. No abstract available.

PMID:
11862140

Supplemental Content

Support Center