Angela Maria Vianna‐Morgante

Fragile X premutation is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study?preliminary data

Diane Allingham‐Hawkins, Riyana Babul‐Hirji, David Chitayat et al. · American Journal of Medical Genetics · 1999 · 498 citations · Full text

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

Reinhard Ullmann, Gillian Turner, Maria Kirchhoff et al. · Human Mutation · 2007 · 286 citations

Neurodevelopmental Disorders, Array Cgh, Same Duplication +15

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

David A. Koolen, Andrew J. Sharp, Jane A. Hurst et al. · Journal of Medical Genetics · 2008 · 215 citations

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

Claudia M.B. Carvalho, Feng Zhang, Pengfei Liu et al. · Human Molecular Genetics · 2009 · 196 citations · Full text

Nonrecurrent <i>MECP2</i> duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

Marijke Bauters, Hilde Van Esch, Michael J. Friez et al. · Genome Research · 2008 · 128 citations · Full text

Dna Damage, Genetics, Genomic Mechanism +21