S. Purandare

Most-cited papers

1. Identification of NF1 mutations in both alleles of a dermal neurofibroma

   Shun'ichi Sawada, S. Florell, S. Purandare, Mayumi Ota +2 more

   1996Nature Genetics178 citations

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2. A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice.

   S. Purandare, S. Ware, Kin M. Kwan, Marinella Gebbia +6 more

   2002Development171 citations

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3. Angiotensinogen: a candidate gene involved in preeclampsia?

   R. Arngrímsson, S. Purandare, Michael Connor, J. Walker +5 more

   1993Nature Genetics152 citations

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4. The X-linked mouse mutation Bent tail is associated with a deletion of the Zic3 locus.

   Tessa L. Carrel, S. Purandare, Wilbur R. Harrison, Frederick F. B. Elder +3 more

   2000Human Molecular Genetics55 citations Open access

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5. Characterisation of inherited and sporadic mutations in neurofibromatosis type-1.

   S. Purandare, W. Lanyon, J. Connor

   1994Human Molecular Genetics50 citations

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6. Identification of neurofibromatosis 1 (NF1) homologous loci by direct sequencing, fluorescence in situ hybridization, and PCR amplification of somatic cell hybrids.

   S. Purandare, H. Breidenbach, Ying Li, Xiao-Lin Zhu +6 more

   1995Genomics47 citations

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7. Genotyping of PCR-based polymorphisms and linkage-disequilibrium analysis at the NF1 locus.

   S. Purandare, R. M. Cawthon, L. Nelson, Shun'ichi Sawada +4 more

   1996American Journal of Human Genetics26 citations

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8. Ring chromosome 9 [r(9)(p24q34)]: A report of two cases

   S. Purandare, Ji-Yun Lee, Susan J. Hassed, M. Steele +3 more

   2005American Journal of Medical Genetics. Part A21 citations

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9. Developmental anomalies with features of disorganization (Ds) and amniotic band sequence (ABS): A report of four cases

   S. Purandare, L. Ernst, L. Medne, D. Huff +1 more

   2009American Journal of Medical Genetics. Part A20 citations

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10. De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia

    S. Purandare, R. Mendoza-Londono, S. Yatsenko, D. Napierała +13 more

    2008American Journal of Medical Genetics. Part A15 citations Open access

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11. Amniotic Band Sequence

    S. Purandare, E. Zackai

    200515 citations

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12. Characterisation of a novel splice donor mutation affecting position +1 in intron 18 of the NF-1 gene.

    S. Purandare, W. Lanyon, R. Arngrímsson, J. Connor

    1995Human Molecular Genetics9 citations

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13. A novel insertional mutation of a single base in exon 34 of the neurofibromatosis‐1 gene

    S. Purandare, H. R. Davidson, W. Lanyon, J. Connor

    1994Human Mutation4 citations Open access

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14. The failure to establish midline body pattern and left-right asymmetry properly is an important cause of congenital malformations. These defects are associated with considerable morbidity and mortality secondary to complex congenital heart defects (CHD), immune dysfunction caused by abnormalities

    S. Purandare, S. Ware, Kin M. Kwan, Marinella Gebbia +6 more

    20020 citations

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15. Characterisation of Mutations in the Gene for Neurofibromatosis Type 1

    S. Purandare

    19940 citations

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16. Characterisation of three novel splice site mutations in introns 11, 18 and 30 of the NF-1 gene

    S. Purandare, W. Lanyon, R. Arngrímsson

    19940 citations

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