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Items: 19

1.

Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma.

Machol K, Jankovic J, Vijayakumar D, Burrage LC, Jain M, Lewis RA, Fuller GN, Xu M, Penas-Prado M, Gule-Monroe MK, Rosenfeld JA, Chen R, Eng CM, Yang Y, Lee BH, Moretti PM; Undiagnosed Diseases Network, Dhar SU.

Neurol Genet. 2018 Jul 20;4(4):e248. doi: 10.1212/NXG.0000000000000248. eCollection 2018 Aug. No abstract available.

2.

Development and evaluation of a genomics training program for community health workers in Texas.

Chen LS, Zhao S, Stelzig D, Dhar SU, Eble T, Yeh YC, Kwok OM.

Genet Med. 2018 Jan 4. doi: 10.1038/gim.2017.236. [Epub ahead of print]

PMID:
29300380
3.

Autism genetic testing information needs among parents of affected children: A qualitative study.

Li M, Amuta A, Xu L, Dhar SU, Talwar D, Jung E, Chen LS.

Patient Educ Couns. 2016 Jun;99(6):1011-6. doi: 10.1016/j.pec.2015.12.023. Epub 2016 Jan 15.

PMID:
26847420
4.

Autism spectrum disorders: perceptions of genetic etiology and recurrence risk among Taiwanese parents of affected children.

Chen LS, Li C, Wang CH, Amuta A, Li M, Huang TY, Dhar SU, Talwar D, Jung E.

Clin Genet. 2015 Aug;88(2):129-34. doi: 10.1111/cge.12514. Epub 2014 Oct 28.

PMID:
25267333
5.

Autism spectrum disorders: a qualitative study of attitudes toward prenatal genetic testing and termination decisions of affected pregnancies.

Chen LS, Xu L, Dhar SU, Li M, Talwar D, Jung E.

Clin Genet. 2015 Aug;88(2):122-8. doi: 10.1111/cge.12504. Epub 2014 Nov 6.

PMID:
25251361
6.
7.

Autism genetic testing: a qualitative study of awareness, attitudes, and experiences among parents of children with autism spectrum disorders.

Chen LS, Xu L, Huang TY, Dhar SU.

Genet Med. 2013 Apr;15(4):274-81. doi: 10.1038/gim.2012.145. Epub 2013 Jan 3.

PMID:
23288207
8.

The practice of adult genetics: a 7-year experience from a single center.

Eble TN, Nagamani SC, Franco LM, Plon SE, Blazo M, Dhar SU.

Am J Med Genet A. 2013 Jan;161A(1):89-93. doi: 10.1002/ajmg.a.35684. Epub 2012 Dec 13. Review.

PMID:
23239603
9.

WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype.

Bacino CA, Dhar SU, Brunetti-Pierri N, Lee B, Bonnen PE.

Am J Med Genet A. 2012 Nov;158A(11):2917-24. doi: 10.1002/ajmg.a.35608. Epub 2012 Sep 17.

10.

POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria.

Bekheirnia MR, Zhang W, Eble T, Willis A, Shaibani A, Wong LJ, Scaglia F, Dhar SU.

Gene. 2012 May 10;499(1):209-12. doi: 10.1016/j.gene.2012.02.034. Epub 2012 Mar 3.

PMID:
22405928
11.

Enhancing exposure to genetics and genomics through an innovative medical school curriculum.

Dhar SU, Alford RL, Nelson EA, Potocki L.

Genet Med. 2012 Jan;14(1):163-7. doi: 10.1038/gim.0b013e31822dd7d4. Epub 2011 Sep 26.

PMID:
22237446
12.

Outcomes of integrating genetics in management of patients with retinoblastoma.

Dhar SU, Chintagumpala M, Noll C, Chévez-Barrios P, Paysse EA, Plon SE.

Arch Ophthalmol. 2011 Nov;129(11):1428-34. doi: 10.1001/archophthalmol.2011.292.

PMID:
22084214
13.

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.

Liu P, Erez A, Nagamani SC, Dhar SU, Kołodziejska KE, Dharmadhikari AV, Cooper ML, Wiszniewska J, Zhang F, Withers MA, Bacino CA, Campos-Acevedo LD, Delgado MR, Freedenberg D, Garnica A, Grebe TA, Hernández-Almaguer D, Immken L, Lalani SR, McLean SD, Northrup H, Scaglia F, Strathearn L, Trapane P, Kang SH, Patel A, Cheung SW, Hastings PJ, Stankiewicz P, Lupski JR, Bi W.

Cell. 2011 Sep 16;146(6):889-903. doi: 10.1016/j.cell.2011.07.042.

14.

Significant differences among physician specialties in management recommendations of BRCA1 mutation carriers.

Dhar SU, Cooper HP, Wang T, Parks B, Staggs SA, Hilsenbeck S, Plon SE.

Breast Cancer Res Treat. 2011 Aug;129(1):221-7. doi: 10.1007/s10549-011-1449-7. Epub 2011 Apr 5.

15.

Genetic testing and cancer risk management recommendations by physicians for at-risk relatives.

Plon SE, Cooper HP, Parks B, Dhar SU, Kelly PA, Weinberg AD, Staggs S, Wang T, Hilsenbeck S.

Genet Med. 2011 Feb;13(2):148-54. doi: 10.1097/GIM.0b013e318207f564.

16.

Cranio-meta-diaphyseal dysplasia: 25 year follow-up and review of literature.

Dhar SU, Taylor T, Trinh C, Sutton VR.

Am J Med Genet A. 2010 Sep;152A(9):2335-8. doi: 10.1002/ajmg.a.33582. Review.

PMID:
20684007
17.

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.

Dhar SU, del Gaudio D, German JR, Peters SU, Ou Z, Bader PI, Berg JS, Blazo M, Brown CW, Graham BH, Grebe TA, Lalani S, Irons M, Sparagana S, Williams M, Phillips JA 3rd, Beaudet AL, Stankiewicz P, Patel A, Cheung SW, Sahoo T.

Am J Med Genet A. 2010 Mar;152A(3):573-81. doi: 10.1002/ajmg.a.33253.

18.

Tetrasomy 13q mosaicism associated with phylloid hypomelanosis and precocious puberty.

Dhar SU, Robbins-Furman P, Levy ML, Patel A, Scaglia F.

Am J Med Genet A. 2009 May;149A(5):993-6. doi: 10.1002/ajmg.a.32758.

19.

Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency.

Dhar SU, Scaglia F, Li FY, Smith L, Barshop BA, Eng CM, Haas RH, Hunter JV, Lotze T, Maranda B, Willis M, Abdenur JE, Chen E, O'Brien W, Wong LJ.

Mol Genet Metab. 2009 Jan;96(1):38-43. doi: 10.1016/j.ymgme.2008.10.008. Epub 2008 Nov 21.

PMID:
19027335

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