José Carlos Ferreira

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

Francesca Romana Grati, D. Molina Gomes, José Carlos Ferreira et al. · Prenatal Diagnosis · 2015 · 313 citations

Medicine, Genetics, Molecular Genetics +17

Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease

Carsten Bergmann, Jennifer von Bothmer, Nadina Ortiz Brüchle et al. · Journal of the American Society of Nephrology · 2011 · 235 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results

Francesca Romana Grati, Francesca Malvestiti, José Carlos Ferreira et al. · Genetics in Medicine · 2014 · 219 citations · Full text

Medicine, Genetics, Obstetrics +16

Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae

Lin Guo, Sanaa Choufani, José Carlos Ferreira et al. · Developmental Biology · 2008 · 163 citations

Life Sciences, Genetics, Molecular Genetics +17

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Frank J. Kaiser, Morad Ansari, Diana Braunholz et al. · Human Molecular Genetics · 2014 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13