Joaquim Sá

Delineating the <i>GRIN1</i> phenotypic spectrum

Johannes R. Lemke, Kirsten Geider, Katherine L. Helbig et al. · Neurology · 2016 · 207 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Identification of novel genetic causes of Rett syndrome-<i>like</i> phenotypes

Fátima Lopes, Mafalda Barbosa, Adam Ameur et al. · Journal of Medical Genetics · 2016 · 194 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients

Ana Beleza‐Meireles, Rachel Hart, Jill Clayton‐Smith et al. · European Journal of Medical Genetics · 2015 · 109 citations

Medicine, Ophthalmology, Clinical Anatomy +4

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

Sérgio B. Sousa, Dagan Jenkins, Estelle Chanudet et al. · Nature Genetics · 2013 · 108 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Sarah M. Nikkel, Andrew Dauber, Sonja de Munnik et al. · Orphanet Journal of Rare Diseases · 2013 · 85 citations · Full text

Life Sciences, Genetics, Human Development +11