InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
Address7200 CAMBRIDGE
Houston, TX 77030
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. McDonald MF, Prather LL, Helfer CR, Ludmir EB, Echeverria AE, Yust-Katz S, Patel AJ, Deneen B, Rao G, Jalali A, Dhar SU, Amos CI, Mandel JJ. Prevalence of pathogenic germline variants in adult-type diffuse glioma. Neurooncol Pract. 2023 Oct; 10(5):482-490. PMID: 37720399; PMCID: PMC10502787.
    2. Glinton KE, Potocki L, Dhar SU. An innovative medical school curriculum to enhance exposure to genetics and genomics: Updates and outcomes. Genet Med. 2022 03; 24(3):722-728. PMID: 34906481.
      Citations:    Fields:    Translation:Humans
    3. Zhao S, Chen WJ, Kwok OM, Dhar SU, Eble TN, Tseng TS, Chen LS. Psychometric Properties of the POAGTS: A Tool for Understanding Parents' Perceptions Regarding Autism Spectrum Disorder Genetic Testing. Int J Environ Res Public Health. 2021 03 23; 18(6). PMID: 33807035; PMCID: PMC8004979.
      Citations:    Fields:    Translation:Humans
    4. Chen WJ, Zhao S, Stelzig D, Nimmons KM, Dhar SU, Eble TN, Martinez D, Yeh YL, Chen LS. Family Health History-Based Cancer Prevention Training for Community Health Workers. Am J Prev Med. 2021 03; 60(3):e159-e167. PMID: 33358550.
      Citations: 2     Fields:    Translation:Humans
    5. Chen LS, Zhao S, Yeh YL, Eble TN, Dhar SU, Kwok OM. Texas health educators'?practice in basic genomics education and services. Per Med. 2021 01; 18(1):55-66. PMID: 33332182.
      Citations:    Fields:    Translation:Humans
    6. Zhao S, Chen WJ, Dhar SU, Eble TN, Kwok OM, Chen LS. Pursuing genetic testing for children with autism spectrum disorders: What do parents think? J Genet Couns. 2021 04; 30(2):370-382. PMID: 32985757.
      Citations: 3     Fields:    Translation:Humans
    7. Erwin DJ, LaMaire C, Espana A, Eble TN, Dhar SU. Financial barriers in a county genetics clinic: Problems and solutions. J Genet Couns. 2020 08; 29(4):678-688. PMID: 32275337.
      Citations: 3     Fields:    Translation:Humans
    8. Dai A, Wu LQ, Jacobs RC, Raghuram A, Dhar SU. Implementation of a Medical School Elective Course Incorporating Case-Based Learning: a Pilot Study. Med Sci Educ. 2020 Mar; 30(1):339-344. PMID: 34457676; PMCID: PMC8368533.
    9. Zhao S, Chen WJ, Dhar SU, Eble TN, Kwok OM, Chen LS. Genetic Testing Experiences Among Parents of Children with Autism Spectrum Disorder in the United States. J Autism Dev Disord. 2019 Dec; 49(12):4821-4833. PMID: 31542846.
      Citations: 7     Fields:    Translation:Humans
    10. Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Yntema HG, Long M, Zhao W, Hu Z, Colson C, Richard N, Schwartz CE, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Zhu B, Bai B, Stankiewicz P, Herman K, University of Washington Center for Mendelian Genomics, Mercimek-Andrews S, Juusola J, Wilfert AB, Abou Jamra R, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss MM, Waisfisz Q, Bijlsma EK, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A, Eichler EE, Keren B, Afenjar A, B?ttner B, Hoffer MJV. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nat Commun. 2019 10 15; 10(1):4679. PMID: 31616000; PMCID: PMC6794285.
      Citations: 15     Fields:    Translation:HumansAnimalsCells
    11. Zhao S, Chen WJ, Dhar SU, Eble TN, Kwok OM, Chen LS. Needs assessment in genetic testing education: A survey of parents of children with autism spectrum disorder in the united states. Autism Res. 2019 08; 12(8):1162-1170. PMID: 31165588.
      Citations: 6     Fields:    Translation:Humans
    12. Assia Batzir N, Bhagwat PK, Eble TN, Liu P, Eng CM, Elsea SH, Robak LA, Scaglia F, Goldman AM, Dhar SU, Wangler MF. De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures. Cold Spring Harb Mol Case Stud. 2019 06; 5(3). PMID: 30850373; PMCID: PMC6549558.
      Citations: 11     Fields:    Translation:HumansCells
    13. Prakash P, Eble TN, Dhar SU. Quality improvement of clinic flow for complex genetic conditions: Using Ehlers-Danlos syndrome as a model. Mol Genet Genomic Med. 2018 11; 6(6):993-1000. PMID: 30259710; PMCID: PMC6305640.
      Citations: 1     Fields:    Translation:Humans
    14. 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. Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma. Neurol Genet. 2018 Aug; 4(4):e248. PMID: 30046660; PMCID: PMC6055357.
      Citations: 4     
    15. Chen LS, Zhao S, Stelzig D, Dhar SU, Eble T, Yeh YC, Kwok OM. Development and evaluation of a genomics training program for community health workers in Texas. Genet Med. 2018 09; 20(9):1030-1037. PMID: 29300380.
      Citations: 7     Fields:    Translation:Humans
    16. Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B, Members of UDN, Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, McElreavey K, Achermann JC, Lagos CF. A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Hum Mol Genet. 2016 12 01; 25(23):5286. PMID: 28031288; PMCID: PMC5886042.
      Citations: 8     Fields:    
    17. Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B, Members of UDN, Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, McElreavey K, Achermann JC, Lagos CF. A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Hum Mol Genet. 2016 08 15; 25(16):3446-3453. PMID: 27378692; PMCID: PMC5179941.
      Citations: 28     Fields:    Translation:Humans
    18. Li M, Amuta A, Xu L, Dhar SU, Talwar D, Jung E, Chen LS. Autism genetic testing information needs among parents of affected children: A qualitative study. Patient Educ Couns. 2016 06; 99(6):1011-6. PMID: 26847420.
      Citations: 8     Fields:    Translation:Humans
    19. Posey JE, Rosenfeld JA, James RA, Bainbridge M, Niu Z, Wang X, Dhar S, Wiszniewski W, Akdemir ZH, Gambin T, Xia F, Person RE, Walkiewicz M, Shaw CA, Sutton VR, Beaudet AL, Muzny D, Eng CM, Yang Y, Gibbs RA, Lupski JR, Boerwinkle E, Plon SE. Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 07; 18(7):678-85. PMID: 26633545; PMCID: PMC4892996.
      Citations: 94     Fields:    Translation:Humans
    20. Chen LS, Xu L, Huang TY, Dhar SU. Autism genetic testing: a qualitative study of awareness, attitudes, and experiences among parents of children with autism spectrum disorders. Genet Med. 2013 Apr; 15(4):274-81. PMID: 23288207.
      Citations: 25     Fields:    Translation:Humans
    21. Eble TN, Nagamani SC, Franco LM, Plon SE, Blazo M, Dhar SU. The practice of adult genetics: a 7-year experience from a single center. Am J Med Genet A. 2013 Jan; 161A(1):89-93. PMID: 23239603; PMCID: PMC6859647.
      Citations: 4     Fields:    Translation:Humans
    22. Bacino CA, Dhar SU, Brunetti-Pierri N, Lee B, Bonnen PE. WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. Am J Med Genet A. 2012 Nov; 158A(11):2917-24. PMID: 22987818; PMCID: PMC4000731.
      Citations: 12     Fields:    Translation:HumansCells
    23. Mehta S, Dhar SU, Birnbaum Y. Common iliac artery aneurysm and spontaneous dissection with contralateral iatrogenic common iliac artery dissection in classic ehlers-danlos syndrome. Int J Angiol. 2012 Sep; 21(3):167-70. PMID: 23997563; PMCID: PMC3578620.
      Citations: 12     
    24. Bekheirnia MR, Zhang W, Eble T, Willis A, Shaibani A, Wong LJ, Scaglia F, Dhar SU. POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria. Gene. 2012 May 10; 499(1):209-12. PMID: 22405928.
      Citations: 8     Fields:    Translation:Humans
    25. Dhar SU, Chintagumpala M, Noll C, Paysse EA, Plon SE, Ch?vez-Barrios P. Outcomes of integrating genetics in management of patients with retinoblastoma. Arch Ophthalmol. 2011 Nov; 129(11):1428-34. PMID: 22084214.
      Citations: 10     Fields:    Translation:Humans
    26. Dhar SU, Alford RL, Nelson EA, Potocki L. Enhancing exposure to genetics and genomics through an innovative medical school curriculum. Genet Med. 2012 Jan; 14(1):163-7. PMID: 22237446.
      Citations: 12     Fields:    Translation:Humans
    27. Liu P, Erez A, Nagamani SC, Dhar SU, Kolodziejska KE, Dharmadhikari AV, Cooper ML, Wiszniewska J, Zhang F, Withers MA, Bacino CA, Campos-Acevedo LD, Delgado MR, Freedenberg D, Garnica A, Grebe TA, 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, Hern?ndez-Almaguer D. Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell. 2011 Sep 16; 146(6):889-903. PMID: 21925314; PMCID: PMC3242451.
      Citations: 196     Fields:    Translation:HumansCells
    28. Plon SE, Cooper HP, Parks B, Dhar SU, Kelly PA, Weinberg AD, Staggs S, Wang T, Hilsenbeck S. Genetic testing and cancer risk management recommendations by physicians for at-risk relatives. Genet Med. 2011 Feb; 13(2):148-54. PMID: 21224735; PMCID: PMC3096073.
      Citations: 42     Fields:    Translation:Humans
    29. Dhar SU, Taylor T, Trinh C, Sutton VR. Cranio-meta-diaphyseal dysplasia: 25 year follow-up and review of literature. Am J Med Genet A. 2010 Sep; 152A(9):2335-8. PMID: 20684007.
      Citations: 4     Fields:    Translation:Humans
    30. Dhar SU, Robbins-Furman P, Levy ML, Patel A, Scaglia F. Tetrasomy 13q mosaicism associated with phylloid hypomelanosis and precocious puberty. Am J Med Genet A. 2009 May; 149A(5):993-6. PMID: 19334087; PMCID: PMC3587162.
      Citations: 2     Fields:    Translation:HumansCells
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