Profile

MBBCh, University of the Witwatersrand


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.

  1. Margolin DH, Kousi M, Chan YM, Lim ET, Schmahmann JD, Hadjivassiliou M, Hall JE, Adam I, Dwyer A, Plummer L, Aldrin SV, O'Rourke J, Kirby A, Lage K, Milunsky A, Milunsky JM, Chan J, Hedley-Whyte ET, Daly MJ, Katsanis N, Seminara SB. Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. N Engl J Med. 2013 May 23; 368(21):1992-2003. PMID: 23656588; PMCID: PMC3738065; DOI: 10.1056/NEJMoa1215993;.
  2. Pilozzi-Edmonds L, Maher TA, Basran RK, Milunsky A, Al-Thihli K, Braverman NE, Alfares A. Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. Am J Med Genet A. 2011 Aug; 155A(8):1987-90.View Related Profiles. PMID: 21739585; DOI: 10.1002/ajmg.a.34094;.
  3. Al-Owain M, Kaya N, Al-Zaidan H, Al-Hashmi N, Al-Bakheet A, Al-Muhaizea M, Chedrawi A, Basran RK, Milunsky A. Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance. Clin Genet. 2011 Apr; 79(4):363-70.View Related Profiles. PMID: 20528889; DOI: 10.1111/j.1399-0004.2010.01462.x;.
  4. Flynn M, Zou YS, Milunsky A. Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning. Am J Med Genet A. 2010 Dec 9.View Related Profiles. PMID: 21154627; DOI: 10.1002/ajmg.a.33756;.
  5. Flynn M, Zou YS, Milunsky A. Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning. Am J Med Genet A. 2011 Jan; 155A(1):141-4.View Related Profiles. PMID: 21204222; DOI: 10.1002/ajmg.a.33756;.
  6. Dauber A, Hirschhorn JN, Picker J, Maher TA, Milunsky A. Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome. Pediatrics. 2010 Dec; 126(6):e1594-8.View Related Profiles. PMID: 21041284; DOI: 10.1542/peds.2010-0164;.
  7. Vaglio A, Milunsky A, Quadrelli A, Huang XL, Maher T, Mechoso B, Martínez S, Pagano S, Bellini S, Costabel M, Quadrelli R. Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication. Genet Test Mol Biomarkers. 2010 Feb; 14(1):57-65.View Related Profiles. PMID: 20143912; DOI: 10.1089/gtmb.2009.0067;.
  8. Milunsky A. Amniotic Fluid. In: Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 6th Ed., Wiley-Blackwell, U.K. 2010. Amniotic Fluid. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. Wiley-Blackwell. U.K. 2010.
  9. Milunsky A, Canick J. Maternal Serum Screening for Neural Tube and Other Defects. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. Wiley-Blackwell. UK. 2010.
  10. Milunsky A, J. Milunsky. Preconception, Prenatal and Perinatal. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. Wiley-Blackwell. UK. 2010.
Showing 10 of 281 results. Show More

This graph shows the total number of publications by year, by first, middle/unknown, or last author.

Bar chart showing 29 publications over 19 distinct years, with a maximum of 3 publications in 1992 and 2004 and 2010

YearPublications
19802
19811
19821
19832
19841
19851
19872
19901
19912
19923
19931
19941
19991
20001
20011
20043
20071
20091
20103
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