Shehla Mohammed

Congenital leptin deficiency is associated with severe early-onset obesity in humans

Carl Montague, I. Sadaf Farooqi, Jonathan P. Whitehead et al. · Nature · 1997 · 2.9K citations · Full text

Medicine, Endocrinology, Pediatrics +11

Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy?

Charis Eng, Victoria Murday, S. Seal et al. · Journal of Medical Genetics · 1994 · 109 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Further delineation of the KAT6B molecular and phenotypic spectrum

Tamsin Gannon, Rahat Perveen, Hélene Schlecht et al. · European Journal of Human Genetics · 2014 · 65 citations · Full text

Life Sciences, Genetics, Molecular Biology +3

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy

Olivier R. Baris, Cécile Delettre, Patrizia Amati‐Bonneau et al. · Human Mutation · 2003 · 63 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Specific combinations of biallelic <i>POLR3A</i> variants cause Wiedemann-Rautenstrauch syndrome

Stefano Paolacci, Yun Li, Emanuele Agolini et al. · Journal of Medical Genetics · 2018 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13