G. Shashidhar Pai

TitleDirector, Division of Genetics
InstitutionMedical University of South Carolina
DepartmentPediatric Genetics
AddressP.O. Box MSC 561
RT 394A
135 Rutledge Ave.
Phone843-876-1516
Fax843-876-1518
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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. Ellis C, Eason C, Snyder A, Siegel M, Pai GS, Ryan E, Pfendner EG, Lee LW. Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy. JAAD Case Rep. 2021 May; 11:63-68. PMID: 33937469.
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    2. Ellis C, Pai GS, Wine Lee L. Atypical aplasia cutis in association with Xia Gibbs syndrome. Pediatr Dermatol. 2021 Mar; 38(2):533-535. PMID: 33464633.
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    3. Shah SK, Kabra SK, Gupta N, Pai G, Lodha R. Vitamin D Deficiency and Parathyroid Response in Critically-ill Children: Association with Illness Severity and Clinical Outcomes. Indian Pediatr. 2016 Jun 08; 53(6):479-84. PMID: 27376601.
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    4. Pai G, Jain V. Massive levothyroxine ingestion. Indian Pediatr. 2014 Oct; 51(10):840-1. PMID: 25362025.
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    5. Poon JK, LaRosa AC, Pai GS. Developmental delay timely identification and assessment. Indian Pediatr. 2010 May; 47(5):415-22. PMID: 20519787.
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    6. Christiansen LR, Lage JM, Wolff DJ, Pai GS, Harley RA. Mosaic duplication 1(q11q44) in an infant with nephroblastomatosis and mineralization of extraplacental membranes. Pediatr Dev Pathol. 2005 Jan-Feb; 8(1):115-23. PMID: 15803218.
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    7. Leonardi ML, Pai GS, Wilkes B, Lebel RR. Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review. Am J Med Genet. 2001 Aug 15; 102(3):237-42. PMID: 11484200.
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    8. Pai GS, Gadewar SB. Diagnostic approach to children with birth defects. Indian J Pediatr. 2000 Nov; 67(11):819-23. PMID: 11216382.
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    9. Pai GS, Khan M, Barbosa E, Key LL, Craver JR, Curé JK, Betros R, Singh I. Lovastatin therapy for X-linked adrenoleukodystrophy: clinical and biochemical observations on 12 patients. Mol Genet Metab. 2000 Apr; 69(4):312-22. PMID: 10870849.
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    10. Southgate WM, Wagner CL, Shields SM, Cantú ES, Pai GS. Mosaic trisomy 8: a cautionary note regarding missed antenatal diagnosis. J Perinatol. 1998 Jan-Feb; 18(1):78-80. PMID: 9527951.
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    11. Kulling D, Green J, Pai GS, Baron PL, Baker SS, Lewin D, Hoffman BJ. Familial adenomatous polyposis registry in South Carolina. J S C Med Assoc. 1997 Nov; 93(11):405-9. PMID: 9394082.
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    12. Greer MK, Brown FR, Pai GS, Choudry SH, Klein AJ. Cognitive, adaptive, and behavioral characteristics of Williams syndrome. Am J Med Genet. 1997 Sep 19; 74(5):521-5. PMID: 9342204.
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    13. Pai GS, Hane B, Joseph M, Nelson R, Hammond LS, Arena JF, Lubs HA, Stevenson RE, Schwartz CE. A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28. J Med Genet. 1997 Jul; 34(7):529-34. PMID: 9222958.
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    14. Joseph M, Cantú ES, Pai GS, Willi SM, Papenhausen PR, Weiss L. Xp pseudoautosomal gene haploinsufficiency and linear growth deficiency in three girls with chromosome Xp22;Yq11 translocation. J Med Genet. 1996 Nov; 33(11):906-11. PMID: 8950669.
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    15. Buebel MS, Salinas CF, Pai GS, Macpherson RI, Greer MK, Perez-Comas A. A new Seckel-like syndrome of primordial dwarfism. Am J Med Genet. 1996 Aug 23; 64(3):447-52. PMID: 8862620.
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    16. Cantú ES, Eicher DJ, Pai GS, Donahue CJ, Harley RA. Mosaic vs. nonmosaic trisomy 9: report of a liveborn infant evaluated by fluorescence in situ hybridization and review of the literature. Am J Med Genet. 1996 Apr 24; 62(4):330-5. PMID: 8723059.
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    17. Joseph M, Pai GS, Holden KR, Herman G. X-linked myotubular myopathy: clinical observations in ten additional cases. Am J Med Genet. 1995 Nov 06; 59(2):168-73. PMID: 8588581.
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    18. Cantú ES, Jacobs DF, Pai GS. An atypical Turner syndrome patient with ring X chromosome mosaicism. Ann Clin Lab Sci. 1995 Jan-Feb; 25(1):60-5. PMID: 7762970.
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    19. Batista DA, Pai GS, Stetten G. Molecular analysis of a complex chromosomal rearrangement and a review of familial cases. Am J Med Genet. 1994 Nov 15; 53(3):255-63. PMID: 7856662.
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    20. Parsons JL, Sahn EE, Holden KR, Pai GS. Neurologic disease in a child with hepatoerythropoietic porphyria. Pediatr Dermatol. 1994 Sep; 11(3):216-21. PMID: 7971555.
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    21. Dyer DS, Wilson ME, Small KW, Pai GS. Alström syndrome: a case misdiagnosed as Bardet-Biedl syndrome. J Pediatr Ophthalmol Strabismus. 1994 Jul-Aug; 31(4):272-4. PMID: 7807310.
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    22. Pai GS. Diagnostic approach to a child with mental retardation. Indian Pediatr. 1994 Jul; 31(7):879-90. PMID: 7890364.
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    23. Rodgers BL, Vanner LV, Pai GS, Sens MA. Walker-Warburg syndrome: report of three affected sibs. Am J Med Genet. 1994 Jan 15; 49(2):198-201. PMID: 8116667.
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    24. Sahn EE, Cook WJ, Gross RH, Garen PD, Pai GS. Musculoaponeurotic fibromatosis (extraabdominal desmoid tumor) in a child with idiopathic multicentric osteolysis. Pediatr Dermatol. 1993 Mar; 10(1):49-53. PMID: 8493169.
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    25. Cantú ES, Khan TA, Pai GS. Fluorescence in situ hybridization (FISH) of a whole-arm translocation involving chromosomes 18 and 20 with alpha-satellite DNA probes: detection of a centromeric DNA break? Am J Med Genet. 1992 Oct 01; 44(3):340-4. PMID: 1488982.
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    26. McCall S, Ramzy MI, Curé JK, Pai GS. Encephalocraniocutaneous lipomatosis and the Proteus syndrome: distinct entities with overlapping manifestations. Am J Med Genet. 1992 Jul 01; 43(4):662-8. PMID: 1621755.
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    27. Ning Y, Yongshan Y, Pai GS, Gross AJ. Heterozygote detection through bleomycin-induced G2 chromatid breakage in dyskeratosis congenita families. Cancer Genet Cytogenet. 1992 May; 60(1):31-4. PMID: 1375530.
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    28. Salinas CF, Pai GS, Vera CL, Milutinovic J, Hagerty R, Cooper JD, Cagna DR. Variability of expression of the orofaciodigital syndrome type I in black females: six cases. Am J Med Genet. 1991 Mar 15; 38(4):574-82. PMID: 2063902.
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    29. Sahn EE, Garen PD, Pai GS, Levkoff AH, Hagerty RC, Maize JC. Multiple rhabdomyomatous mesenchymal hamartomas of skin. Am J Dermatopathol. 1990 Oct; 12(5):485-91. PMID: 2244664.
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    30. DeBauche DM, Pai GS, Stanley WS. Enhanced G2 chromatid radiosensitivity in dyskeratosis congenita fibroblasts. Am J Hum Genet. 1990 Feb; 46(2):350-7. PMID: 2301400.
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    31. Pai GS, Yan Y, DeBauche DM, Stanley WS, Paul SR. Bleomycin hypersensitivity in dyskeratosis congenita fibroblasts, lymphocytes, and transformed lymphoblasts. Cytogenet Cell Genet. 1989; 52(3-4):186-9. PMID: 2483541.
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    32. Pai GS, Macpherson RI. Idiopathic multicentric osteolysis: report of two new cases and a review of the literature. Am J Med Genet. 1988 Apr; 29(4):929-36. PMID: 3041835.
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