Frenny Sheth

15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients

Clémence Vanlerberghe, Florence Petit, Valérie Malan et al. · European Journal of Medical Genetics · 2015 · 122 citations

Medicine, Genetics, Pediatrics +17

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Christel Depienne, Caroline Nava, Boris Keren et al. · Human Genetics · 2017 · 119 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

Paranchai Boonsawat, Pascal Joset, Katharina Steindl et al. · Genetics in Medicine · 2019 · 86 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability

Reza Asadollahi, Beatrice Oneda, Frenny Sheth et al. · European Journal of Human Genetics · 2013 · 79 citations

Medicine, Cardiology, Pharmacogenomics +3

Ring chromosome 9 in a dysmorphic child

Jayesh Sheth, Rajesh Joshi, Frenny Sheth · The Indian Journal of Pediatrics · 2007 · 73 citations

Life Sciences, Genetics, Molecular Genetics +14