Beata Nowakowska

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Nicola Brunetti‐Pierri, Jonathan S. Berg, Fernando Scaglia et al. · Nature Genetics · 2008 · 635 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

J. K. J. VAN HOUDT, Beata Nowakowska, Sérgio B. Sousa et al. · Nature Genetics · 2012 · 244 citations

Life Sciences, Genetics, Molecular Genetics +10

Detection of clinically relevant exonic copy-number changes by array CGH

Philip M. Boone, Carlos A. Bacino, Chad A. Shaw et al. · Human Mutation · 2010 · 240 citations

Life Sciences, Genetics, Molecular Genetics +16

Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations

Caroline Robberecht, Thierry Voet, Masoud Zamani Esteki et al. · Genome Research · 2012 · 165 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Valproic Acid Confers Functional Pluripotency to Human Amniotic Fluid Stem Cells in a Transgene-free Approach

Dafni Moschidou, Sayandip Mukherjee, Michael P. Blundell et al. · Molecular Therapy · 2012 · 153 citations · Full text

Life Sciences, Biotechnology, Developmental Biology +16