Ishwar C. Verma

Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

Antonio J. Vallejo‐Vaz, Christophe Stevens, Alexander R.M. Lyons et al. · The Lancet · 2021 · 305 citations · Full text

Public Health, Endocrinology, Genetics +13

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes et al. · Human Mutation · 2015 · 190 citations · Full text

Medicine, Dermatology, Genetics +17

Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants

Carola Dröge, Michele Bonus, Ulrich Baumann et al. · Journal of Hepatology · 2017 · 137 citations

Life Sciences, Genetics, Molecular Genetics +14

SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism

Véronique Pingault, Mathilde Girard, Nadège Bondurand et al. · Human Genetics · 2002 · 131 citations

Medicine, Genetics, Molecular Genetics +14

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening

Naoaki Shibata, Yuki Hasegawa, Kenji Yamada et al. · Molecular Genetics and Metabolism Reports · 2018 · 129 citations · Full text

Medicine, Biochemistry, Mass Spectrometric Analysis +13