Judith Franklin

Most-cited papers

1. Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

   R. Lyle, F. Béna, S. Gagos, C. Gehrig +24 more

   2009European Journal of Human Genetics302 citations Open access

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2. Clefting, amniotic bands, and polydactyly: A distinct phenotype that supports an intrinsic mechanism for amniotic band sequence

   N. Robin, Judith Franklin, S. Prucka, Ashley B. Ryan +1 more

   2005American Journal of Medical Genetics. Part A66 citations

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3. Distal 22q11.2 microduplication encompassing the BCR gene

   M. Descartes, Judith Franklin, T. D. de Ståhl, A. Piotrowski +4 more

   2008American Journal of Medical Genetics. Part A38 citations

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4. Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1

   G. Nimmo, Sarah Monsonego, M. Descartes, Judith Franklin +2 more

   2010American Journal of Medical Genetics. Part A25 citations

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5. Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities

   M. Descartes, J. Hain, M. Conklin, Judith Franklin +4 more

   2008American Journal of Medical Genetics. Part A18 citations

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6. Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopia.

   M. Descartes, F. Mikhail, Judith Franklin, Tony M. McGrath +1 more

   2011Pediatric Neurology11 citations

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7. Constitutional H19 hypermethylation in a patient with isolated cardiac tumor

   M. Descartes, Robb L. Romp, Judith Franklin, J. Biggio +1 more

   2008American Journal of Medical Genetics. Part A6 citations

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8. A five-year experience with fragile X screening of high-risk gravid women.

   K. Wenstrom, M. Descartes, Judith Franklin, S. Cliver

   1999American Journal of Obstetrics and Gynecology6 citations

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9. A new syndrome with Stargardt macular degeneration, abnormalities of the corpus callosum, mental retardation, and dysmorphic features: a case report of two siblings.

   M. Descartes, S. Royal, Judith Franklin, K. Goodin +3 more

   2009Clinical Dysmorphology5 citations

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10. The fronto‐ocular syndrome: second mother‐daughter case

    M. Descartes, Judith Franklin

    2004Clinical Genetics2 citations

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