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Israela Lerer | doi.page

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Israela Lerer

Austral University(AR)University of Buenos Aires(AR)

Publications by Year

Research Areas

Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities, Genetic Syndromes and Imprinting, Cancer Genomics and Diagnostics, BRCA gene mutations in cancer

Most-Cited Works

The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women.(1997)
→ Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration(2007)250 cited
→ A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews(2001)220 cited
→ Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis(1998)216 cited
→ The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3(2008)203 cited
→ The E148Q mutation in the MEFV gene: Is it a disease-causing mutation or a sequence variant?(2000)170 cited

→ Mutations of the Mitochondrial Holocytochrome c–Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome(2006)

161 cited

→ KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations(2012)153 cited

Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.(1992)

→ Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy(2005)132 cited