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Items: 30

1.

Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.

Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM.

Nat Med. 2019 Apr;25(4):701-702. doi: 10.1038/s41591-019-0391-9.

PMID:
30787481
2.

Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.

Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM.

Nat Med. 2019 Mar;25(3):439-447. doi: 10.1038/s41591-018-0334-x. Epub 2019 Jan 28. Erratum in: Nat Med. 2019 Feb 20;:.

PMID:
30692697
3.

Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios.

Deng L, Cheung SW, Schmitt ES, Xiong S, Yuan M, Chen Z, Chen L, Sun L.

Birth Defects Res. 2018 Mar 1;110(4):364-371. doi: 10.1002/bdr2.1146. Epub 2018 Jan 23.

PMID:
29359448
4.

Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes.

Sadikovic B, Wang J, El-Hattab AW, Landsverk M, Douglas G, Brundage EK, Craigen WJ, Schmitt ES, Wong LC.

PLoS One. 2017 Nov 20;12(11):e0188610. doi: 10.1371/journal.pone.0188610. eCollection 2017.

5.

The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing.

Feng Y, Ge X, Meng L, Scull J, Li J, Tian X, Zhang T, Jin W, Cheng H, Wang X, Tokita M, Liu P, Mei H, Wang Y, Li F, Schmitt ES, Zhang WV, Muzny D, Wen S, Chen Z, Yang Y, Beaudet AL, Liu X, Eng CM, Xia F, Wong LJ, Zhang J.

Genet Med. 2017 Aug;19(8):936-944. doi: 10.1038/gim.2016.215. Epub 2017 Jan 26.

PMID:
28125085
6.

Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types.

Wang J, Yu H, Zhang VW, Tian X, Feng Y, Wang G, Gorman E, Wang H, Lutz RE, Schmitt ES, Peacock S, Wong LJ.

Genet Med. 2016 May;18(5):513-21. doi: 10.1038/gim.2015.121. Epub 2015 Sep 24.

PMID:
26402642
7.

A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2.

Li J, Dai H, Feng Y, Tang J, Chen S, Tian X, Gorman E, Schmitt ES, Hansen TA, Wang J, Plon SE, Zhang VW, Wong LJ.

J Mol Diagn. 2015 Sep;17(5):545-53. doi: 10.1016/j.jmoldx.2015.04.001.

PMID:
26320870
8.

Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene.

Burrage LC, Tang S, Wang J, Donti TR, Walkiewicz M, Luchak JM, Chen LC, Schmitt ES, Niu Z, Erana R, Hunter JV, Graham BH, Wong LJ, Scaglia F.

Mol Genet Metab. 2014 Nov;113(3):207-12. doi: 10.1016/j.ymgme.2014.06.004. Epub 2014 Jun 30.

9.

Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.

Comeaux MS, Wang J, Wang G, Kleppe S, Zhang VW, Schmitt ES, Craigen WJ, Renaud D, Sun Q, Wong LJ.

Mol Genet Metab. 2013 Jul;109(3):260-8. doi: 10.1016/j.ymgme.2013.04.006. Epub 2013 Apr 17.

PMID:
23660394
10.

Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.

Tang S, Wang J, Zhang VW, Li FY, Landsverk M, Cui H, Truong CK, Wang G, Chen LC, Graham B, Scaglia F, Schmitt ES, Craigen WJ, Wong LJ.

Hum Mutat. 2013 Jun;34(6):882-93. doi: 10.1002/humu.22307. Epub 2013 Apr 2.

PMID:
23463613
11.

Characterization of a recurrent 3.8kb deletion involving exons 17a and 17b within the CFTR gene.

Tang S, Moonnumakal SP, Stevens B, Douglas G, Mason S, Schmitt ES, Eng CM, Katz M, Fang P.

J Cyst Fibros. 2013 May;12(3):290-4. doi: 10.1016/j.jcf.2012.08.017. Epub 2012 Sep 19.

12.

Targeted array CGH as a valuable molecular diagnostic approach: experience in the diagnosis of mitochondrial and metabolic disorders.

Wang J, Zhan H, Li FY, Pursley AN, Schmitt ES, Wong LJ.

Mol Genet Metab. 2012 Jun;106(2):221-30. doi: 10.1016/j.ymgme.2012.03.005. Epub 2012 Mar 21.

PMID:
22494545
13.

An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory's experience.

Wang J, Schmitt ES, Landsverk ML, Zhang VW, Li FY, Graham BH, Craigen WJ, Wong LJ.

Genet Med. 2012 Jun;14(6):620-6. doi: 10.1038/gim.2012.4. Epub 2012 Mar 8.

PMID:
22402757
14.

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

Tang S, Wang J, Lee NC, Milone M, Halberg MC, Schmitt ES, Craigen WJ, Zhang W, Wong LJ.

J Med Genet. 2011 Oct;48(10):669-81. doi: 10.1136/jmedgenet-2011-100222. Epub 2011 Aug 31.

PMID:
21880868
15.

Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.

Wang GL, Wang J, Douglas G, Browning M, Hahn S, Ganesh J, Cox S, Aleck K, Schmitt ES, Zhang W, Wong LJ.

Mol Genet Metab. 2011 Aug;103(4):349-57. doi: 10.1016/j.ymgme.2011.05.001. Epub 2011 May 7.

PMID:
21605995
16.

Utilization of targeted array comparative genomic hybridization, MitoMet, in prenatal diagnosis of metabolic disorders.

Landsverk ML, Wang J, Schmitt ES, Pursley AN, Wong LJ.

Mol Genet Metab. 2011 Jun;103(2):148-52. doi: 10.1016/j.ymgme.2011.03.003. Epub 2011 Mar 10.

PMID:
21482165
17.

Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes.

Sadikovic B, Wang J, El-Hattab AW, Landsverk M, Douglas G, Brundage EK, Craigen WJ, Schmitt ES, Wong LJ.

PLoS One. 2010 Dec 20;5(12):e15687. doi: 10.1371/journal.pone.0015687. Erratum in: PLoS One. 2017 Nov 20;12 (11):e0188610.

18.

Molecular characterization of CPS1 deletions by array CGH.

Wang J, Shchelochkov OA, Zhan H, Li F, Chen LC, Brundage EK, Pursley AN, Schmitt ES, Häberle J, Wong LJ.

Mol Genet Metab. 2011 Jan;102(1):103-6. doi: 10.1016/j.ymgme.2010.08.020. Epub 2010 Sep 19.

19.

Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.

Li FY, El-Hattab AW, Bawle EV, Boles RG, Schmitt ES, Scaglia F, Wong LJ.

Hum Mutat. 2010 Aug;31(8):E1632-51. doi: 10.1002/humu.21311.

PMID:
20574985
20.

Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency.

Coughlin CR 2nd, Krantz ID, Schmitt ES, Zhang S, Wong LJ, Kerr DS, Ganesh J.

Mol Genet Metab. 2010 Jul;100(3):296-9. doi: 10.1016/j.ymgme.2010.04.004. Epub 2010 Apr 14.

PMID:
20462777
21.

Quantitative evaluation of the mitochondrial DNA depletion syndrome.

Dimmock D, Tang LY, Schmitt ES, Wong LJ.

Clin Chem. 2010 Jul;56(7):1119-27. doi: 10.1373/clinchem.2009.141549. Epub 2010 May 6.

22.

A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping.

Ji JQ, Dimmock D, Tang LY, Descartes M, Gomez R, Rutledge SL, Schmitt ES, Wong LJ.

Mitochondrion. 2010 Mar;10(2):188-91. doi: 10.1016/j.mito.2009.11.002. Epub 2009 Nov 10.

PMID:
19900589
23.

Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion.

Zhang S, Li FY, Bass HN, Pursley A, Schmitt ES, Brown BL, Brundage EK, Mardach R, Wong LJ.

Mol Genet Metab. 2010 Jan;99(1):53-7. doi: 10.1016/j.ymgme.2009.09.003.

PMID:
19815440
24.

Regional genomic instability predisposes to complex dystrophin gene rearrangements.

Oshima J, Magner DB, Lee JA, Breman AM, Schmitt ES, White LD, Crowe CA, Merrill M, Jayakar P, Rajadhyaksha A, Eng CM, del Gaudio D.

Hum Genet. 2009 Sep;126(3):411-23. doi: 10.1007/s00439-009-0679-9. Epub 2009 May 16.

PMID:
19449031
25.

De novo mutations in POLG presenting with acute liver failure or encephalopathy.

Lutz RE, Dimmock D, Schmitt ES, Zhang Q, Tang LY, Reyes C, Truemper E, McComb RD, Hernandez A, Basinger A, Wong LJ.

J Pediatr Gastroenterol Nutr. 2009 Jul;49(1):126-9. doi: 10.1097/MPG.0b013e31817d9cad. No abstract available.

PMID:
19252446
26.

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.

del Gaudio D, Yang Y, Boggs BA, Schmitt ES, Lee JA, Sahoo T, Pham HT, Wiszniewska J, Chinault AC, Beaudet AL, Eng CM.

Hum Mutat. 2008 Sep;29(9):1100-7. doi: 10.1002/humu.20841.

PMID:
18752307
27.

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC.

Hum Mutat. 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824.

28.

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.

Wong LJ, Brunetti-Pierri N, Zhang Q, Yazigi N, Bove KE, Dahms BB, Puchowicz MA, Gonzalez-Gomez I, Schmitt ES, Truong CK, Hoppel CL, Chou PC, Wang J, Baldwin EE, Adams D, Leslie N, Boles RG, Kerr DS, Craigen WJ.

Hepatology. 2007 Oct;46(4):1218-27. Erratum in: Hepatology. 2008 Feb;47(2):768.

PMID:
17694548
29.

Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: evidence that 3199del6 is a disease-causing mutation.

Buyse IM, McCarthy SE, Lurix P, Pace RP, Vo D, Bartlett GA, Schmitt ES, Ward PA, Oermann C, Eng CM, Roa BB.

Genet Med. 2004 Sep-Oct;6(5):426-30.

PMID:
15371908
30.

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