Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 46

1.

Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.

Berauer JP, Mezina AI, Okou DT, Sabo A, Muzny DM, Gibbs RA, Hegde MR, Chopra P, Cutler DJ, Perlmutter DH, Bull LN, Thompson RJ, Loomes KM, Spinner NB, Rajagopalan R, Guthery SL, Moore B, Yandell M, Harpavat S, Magee JC, Kamath BM, Molleston JP, Bezerra JA, Murray KF, Alonso EM, Rosenthal P, Squires RH, Wang KS, Finegold MJ, Russo P, Sherker AH, Sokol RJ, Karpen SJ; Childhood Liver Disease Research Network (ChiLDReN).

Hepatology. 2019 Jan 21. doi: 10.1002/hep.30515. [Epub ahead of print]

PMID:
30664273
2.

Validation of the diagnostic potential of mtDNA copy number derived from whole genome sequencing.

Brockhage R, Slone J, Ma Z, Hegde MR, Valencia CA, Huang T.

J Genet Genomics. 2018 Jun 6. pii: S1673-8527(18)30098-5. doi: 10.1016/j.jgg.2018.06.001. [Epub ahead of print] No abstract available.

PMID:
29910094
3.
4.

Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine.

Bean LJ, Hegde MR.

Hum Mutat. 2017 Jan;38(1):122. doi: 10.1002/humu.23064. Epub 2016 Sep 23. No abstract available.

PMID:
27943539
5.

Regulating whole exome sequencing as a diagnostic test.

Lapin V, Mighion LC, da Silva CP, Cuperus Y, Bean LJ, Hegde MR.

Hum Genet. 2016 Jun;135(6):655-73. doi: 10.1007/s00439-016-1677-3. Epub 2016 May 11. Review.

PMID:
27167135
6.

Genomic Sequencing Procedure Microcosting Analysis and Health Economic Cost-Impact Analysis: A Report of the Association for Molecular Pathology.

Sabatini LM, Mathews C, Ptak D, Doshi S, Tynan K, Hegde MR, Burke TL, Bossler AD.

J Mol Diagn. 2016 May;18(3):319-328. doi: 10.1016/j.jmoldx.2015.11.010. Epub 2016 Apr 13. Review.

7.

Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine.

Bean LJ, Hegde MR.

Hum Mutat. 2016 Jun;37(6):559-63. doi: 10.1002/humu.22982. Epub 2016 Mar 18. Erratum in: Hum Mutat. 2017 Jan;38(1):122.

8.

Response to Saul.

Xue Y, Ankala A, Wilcox WR, Hegde MR.

Genet Med. 2015 Sep;17(9):761. doi: 10.1038/gim.2015.114. No abstract available.

PMID:
26331192
9.

Good laboratory practice for clinical next-generation sequencing informatics pipelines.

Gargis AS, Kalman L, Bick DP, da Silva C, Dimmock DP, Funke BH, Gowrisankar S, Hegde MR, Kulkarni S, Mason CE, Nagarajan R, Voelkerding KV, Worthey EA, Aziz N, Barnes J, Bennett SF, Bisht H, Church DM, Dimitrova Z, Gargis SR, Hafez N, Hambuch T, Hyland FC, Luna RA, MacCannell D, Mann T, McCluskey MR, McDaniel TK, Ganova-Raeva LM, Rehm HL, Reid J, Campo DS, Resnick RB, Ridge PG, Salit ML, Skums P, Wong LJ, Zehnbauer BA, Zook JM, Lubin IM.

Nat Biotechnol. 2015 Jul;33(7):689-93. doi: 10.1038/nbt.3237. No abstract available.

10.

Gamut of genetic testing for neonatal care.

Ankala A, Hegde MR.

Clin Perinatol. 2015 Jun;42(2):217-26, vii. doi: 10.1016/j.clp.2015.02.001. Epub 2015 Mar 31. Review.

PMID:
26042901
11.

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.

Ankala A, da Silva C, Gualandi F, Ferlini A, Bean LJ, Collins C, Tanner AK, Hegde MR.

Ann Neurol. 2015 Feb;77(2):206-14. doi: 10.1002/ana.24303. Epub 2014 Dec 17.

PMID:
25380242
12.

Clinical applications and implications of common and founder mutations in Indian subpopulations.

Ankala A, Tamhankar PM, Valencia CA, Rayam KK, Kumar MM, Hegde MR.

Hum Mutat. 2015 Jan;36(1):1-10. doi: 10.1002/humu.22704. Epub 2014 Nov 27. Review.

PMID:
25323826
13.

Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing.

Xue Y, Ankala A, Wilcox WR, Hegde MR.

Genet Med. 2015 Jun;17(6):444-51. doi: 10.1038/gim.2014.122. Epub 2014 Sep 18. Review.

PMID:
25232854
14.

College of American Pathologists' laboratory standards for next-generation sequencing clinical tests.

Aziz N, Zhao Q, Bry L, Driscoll DK, Funke B, Gibson JS, Grody WW, Hegde MR, Hoeltge GA, Leonard DG, Merker JD, Nagarajan R, Palicki LA, Robetorye RS, Schrijver I, Weck KE, Voelkerding KV.

Arch Pathol Lab Med. 2015 Apr;139(4):481-93. doi: 10.5858/arpa.2014-0250-CP. Epub 2014 Aug 25.

PMID:
25152313
15.

Genetic variation in dihydropyrimidine dehydrogenase (DPYD) gene in a healthy adult Indian population.

Iyer SN, Singhal RS, Hegde MR, Ankala A.

Ann Hum Biol. 2015 Jan;42(1):97-100. doi: 10.3109/03014460.2014.942365. Epub 2014 Aug 13.

PMID:
25117664
16.

Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies.

Ankala A, Nallamilli BR, Rufibach LE, Hwang E, Hegde MR.

Muscle Nerve. 2014 Sep;50(3):333-9. doi: 10.1002/mus.24195. Epub 2014 Jun 16.

PMID:
24488599
17.

Mouse model implicates GNB3 duplication in a childhood obesity syndrome.

Goldlust IS, Hermetz KE, Catalano LM, Barfield RT, Cozad R, Wynn G, Ozdemir AC, Conneely KN, Mulle JG, Dharamrup S, Hegde MR, Kim KH, Angle B, Colley A, Webb AE, Thorland EC, Ellison JW, Rosenfeld JA, Ballif BC, Shaffer LG, Demmer LA; Unique Rare Chromosome Disorder Support Group, Rudd MK.

Proc Natl Acad Sci U S A. 2013 Sep 10;110(37):14990-4. doi: 10.1073/pnas.1305999110. Epub 2013 Aug 26.

18.

ACMG clinical laboratory standards for next-generation sequencing.

Rehm HL, Bale SJ, Bayrak-Toydemir P, Berg JS, Brown KK, Deignan JL, Friez MJ, Funke BH, Hegde MR, Lyon E; Working Group of the American College of Medical Genetics and Genomics Laboratory Quality Assurance Commitee.

Genet Med. 2013 Sep;15(9):733-47. doi: 10.1038/gim.2013.92. Epub 2013 Jul 25.

19.

Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.

Jones MA, Rhodenizer D, da Silva C, Huff IJ, Keong L, Bean LJ, Coffee B, Collins C, Tanner AK, He M, Hegde MR.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):78-85. doi: 10.1016/j.ymgme.2013.05.012. Epub 2013 May 28.

PMID:
23806237
20.

Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.

Bean LJ, Tinker SW, da Silva C, Hegde MR.

Hum Mutat. 2013 Sep;34(9):1183-8. doi: 10.1002/humu.22364. Epub 2013 Aug 5.

PMID:
23757202
21.

Ancestral founder mutations in calpain-3 in the Indian Agarwal community: historical, clinical, and molecular perspective.

Ankala A, Kohn JN, Dastur R, Gaitonde P, Khadilkar SV, Hegde MR.

Muscle Nerve. 2013 Jun;47(6):931-7. doi: 10.1002/mus.23763. Epub 2013 May 11.

PMID:
23666804
22.

Determination of common genetic variants in cytidine deaminase (CDA) gene in Indian ethnic population.

Iyer SN, Ankala A, Singhal RS, Hegde MR.

Gene. 2013 Jul 15;524(1):35-9. doi: 10.1016/j.gene.2013.04.015. Epub 2013 Apr 21.

PMID:
23612254
23.

Marching towards personalized genomic medicine.

Hegde MR.

J Pediatr. 2013 Jan;162(1):10-1. doi: 10.1016/j.jpeds.2012.09.046. Epub 2012 Nov 10. No abstract available.

PMID:
23149174
24.

Assuring the quality of next-generation sequencing in clinical laboratory practice.

Gargis AS, Kalman L, Berry MW, Bick DP, Dimmock DP, Hambuch T, Lu F, Lyon E, Voelkerding KV, Zehnbauer BA, Agarwala R, Bennett SF, Chen B, Chin EL, Compton JG, Das S, Farkas DH, Ferber MJ, Funke BH, Furtado MR, Ganova-Raeva LM, Geigenm├╝ller U, Gunselman SJ, Hegde MR, Johnson PL, Kasarskis A, Kulkarni S, Lenk T, Liu CS, Manion M, Manolio TA, Mardis ER, Merker JD, Rajeevan MS, Reese MG, Rehm HL, Simen BB, Yeakley JM, Zook JM, Lubin IM.

Nat Biotechnol. 2012 Nov;30(11):1033-6. doi: 10.1038/nbt.2403. No abstract available.

25.

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.

Schwarze U, Cundy T, Pyott SM, Christiansen HE, Hegde MR, Bank RA, Pals G, Ankala A, Conneely K, Seaver L, Yandow SM, Raney E, Babovic-Vuksanovic D, Stoler J, Ben-Neriah Z, Segel R, Lieberman S, Siderius L, Al-Aqeel A, Hannibal M, Hudgins L, McPherson E, Clemens M, Sussman MD, Steiner RD, Mahan J, Smith R, Anyane-Yeboa K, Wynn J, Chong K, Uster T, Aftimos S, Sutton VR, Davis EC, Kim LS, Weis MA, Eyre D, Byers PH.

Hum Mol Genet. 2013 Jan 1;22(1):1-17. doi: 10.1093/hmg/dds371. Epub 2012 Sep 4.

26.

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

Ng BG, Hackmann K, Jones MA, Eroshkin AM, He P, Wiliams R, Bhide S, Cantagrel V, Gleeson JG, Paller AS, Schnur RE, Tinschert S, Zunich J, Hegde MR, Freeze HH.

Am J Hum Genet. 2012 Apr 6;90(4):685-8. doi: 10.1016/j.ajhg.2012.02.010. Epub 2012 Mar 22.

27.

Exploring concordance and discordance for return of incidental findings from clinical sequencing.

Green RC, Berg JS, Berry GT, Biesecker LG, Dimmock DP, Evans JP, Grody WW, Hegde MR, Kalia S, Korf BR, Krantz I, McGuire AL, Miller DT, Murray MF, Nussbaum RL, Plon SE, Rehm HL, Jacob HJ.

Genet Med. 2012 Apr;14(4):405-10. doi: 10.1038/gim.2012.21. Epub 2012 Mar 15.

28.

DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.

Jones MA, Ng BG, Bhide S, Chin E, Rhodenizer D, He P, Losfeld ME, He M, Raymond K, Berry G, Freeze HH, Hegde MR.

Am J Hum Genet. 2012 Feb 10;90(2):363-8. doi: 10.1016/j.ajhg.2011.12.024. Epub 2012 Feb 2.

30.

Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene.

Ankala A, Kohn JN, Hegde A, Meka A, Ephrem CL, Askree SH, Bhide S, Hegde MR.

Genome Res. 2012 Jan;22(1):25-34. doi: 10.1101/gr.123463.111. Epub 2011 Nov 16.

31.

Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.

Jones MA, Bhide S, Chin E, Ng BG, Rhodenizer D, Zhang VW, Sun JJ, Tanner A, Freeze HH, Hegde MR.

Genet Med. 2011 Nov;13(11):921-32. doi: 10.1097/GIM.0b013e318226fbf2.

32.

A simple method to confirm and size deletion, duplication, and insertion mutations detected by sequence analysis.

Hjelm LN, Chin EL, Hegde MR, Coffee BW, Bean LJ.

J Mol Diagn. 2010 Sep;12(5):607-10. doi: 10.2353/jmoldx.2010.100011. Epub 2010 Jul 15.

33.

Empirical evaluation of oligonucleotide probe selection for DNA microarrays.

Mulle JG, Patel VC, Warren ST, Hegde MR, Cutler DJ, Zwick ME.

PLoS One. 2010 Mar 29;5(3):e9921. doi: 10.1371/journal.pone.0009921.

34.

Novel human pathological mutations. Gene symbol: HEXA. Disease: Tay-Sachs disease.

Chin E, Bean L, Coffee B, Hegde MR.

Hum Genet. 2009 Aug;126(2):329. doi: 10.1007/s00439-009-0717-7. No abstract available.

PMID:
19644708
35.

Genetic testing for hereditary nonpolyposis colorectal cancer (HNPCC).

Hegde MR, Roa BB.

Curr Protoc Hum Genet. 2009 Apr;Chapter 10:Unit 10.12. doi: 10.1002/0471142905.hg1012s61.

PMID:
19360696
36.

Microarray-based mutation detection in the dystrophin gene.

Hegde MR, Chin EL, Mulle JG, Okou DT, Warren ST, Zwick ME.

Hum Mutat. 2008 Sep;29(9):1091-9. doi: 10.1002/humu.20831.

37.

Detecting mutations in the APC gene in familial adenomatous polyposis (FAP).

Hegde MR, Roa BB.

Curr Protoc Hum Genet. 2006 Aug;Chapter 10:Unit 10.8. doi: 10.1002/0471142905.hg1008s50. Review.

PMID:
18428386
38.

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee.

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PMID:
18414213
39.

Severe childhood autosomal recessive muscular dystrophy, mental subnormality and chorea.

Khadilkar SV, Menezes KM, Singh RK, Hegde MR.

Neurol India. 2006 Sep;54(3):293-5.

40.

A homozygous mutation in MSH6 causes Turcot syndrome.

Hegde MR, Chong B, Blazo ME, Chin LH, Ward PA, Chintagumpala MM, Kim JY, Plon SE, Richards CS.

Clin Cancer Res. 2005 Jul 1;11(13):4689-93.

41.

Clinical & genetic analysis of four patients with distal upper limb spinal muscular atrophy.

Hegde MR, Chong B, Stevenson C, Laing NG, Khadilkar S, Love DR.

Indian J Med Res. 2001 Oct;114:141-7.

PMID:
11921836
42.

Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification.

Hegde MR, Chong B, Fawkner M, Lambiris N, Peters H, Kenneson A, Warren ST, Love DR, McGaughran J.

J Med Genet. 2001 Sep;38(9):624-9. No abstract available.

43.

Compound heterozygosity at the FMR1 gene.

Hegde MR, Fawkner M, Chong B, McGaughran J, Gilbert D, Love DR.

Genet Test. 2001 Summer;5(2):135-8.

PMID:
11551100
44.

Hierarchical mutation screening protocol for the BRCA1 gene.

Hegde MR, Chong B, Fawkner MJ, Leary J, Shelling AN, Culling B, Winship I, Love DR.

Hum Mutat. 2000 Nov;16(5):422-30.

PMID:
11058900
45.

Null alleles at the Huntington disease locus: implications for diagnostics and CAG repeat instability.

Williams LC, Hegde MR, Nagappan R, Faull RL, Giles J, Winship I, Snow K, Love DR.

Genet Test. 2000;4(1):55-60.

PMID:
10794362
46.

Comparative semi-automated analysis of (CAG) repeats in the Huntington disease gene: use of internal standards.

Williams LC, Hegde MR, Herrera G, Stapleton PM, Love DR.

Mol Cell Probes. 1999 Aug;13(4):283-9.

PMID:
10441201

Supplemental Content

Loading ...
Support Center