Jozef Hertecant

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

Aida M. Bertoli‐Avella, Christian Beetz, Najim Ameziane et al. · European Journal of Human Genetics · 2020 · 125 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

Sónia Barbosa, Stephanie Greville‐Heygate, Maxime Bonnet et al. · The American Journal of Human Genetics · 2020 · 111 citations · Full text

Life Sciences, Genetics, Neuroscience +17

The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG

Silvia Radenkovic, Matthew Bird, Tim L. Emmerzaal et al. · The American Journal of Human Genetics · 2019 · 80 citations · Full text

Life Sciences, Molecular Biology, Molecular Medicine +12

Oral D-galactose supplementation in PGM1-CDG

Sunnie Wong, Therese Gadomski, Monique van Scherpenzeel et al. · Genetics in Medicine · 2017 · 79 citations · Full text

Life Sciences, Nutrition, Nutritional Sciences +5

Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011

Hager Al Hosani, M. Salah, Hesham Osman et al. · Eastern Mediterranean Health Journal · 2014 · 57 citations · Full text

Medicine, Biochemistry, Pediatrics +17