Diane Abuelo

Mutations of <i>ARX</i> are associated with striking pleiotropy and consistent genotype–phenotype correlation

Mitsuhiro Kato, Soma Das, Kristin Petras et al. · Human Mutation · 2004 · 327 citations

Genetics, Pathology, Molecular Genetics +17

Treatment of Smith-Lemli-Opitz syndrome: Results of a multicenter trial

Mira Irons, Ellen Roy Elias, Diane Abuelo et al. · American Journal of Medical Genetics · 1997 · 136 citations

Pathology, Case Series, Hyperlipidemia +17

XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28

Herbert A. Lubs, Fatima Abidi, Jo‐Ann Blaymore Bier et al. · American Journal of Medical Genetics · 1999 · 71 citations

De novo unbalanced translocations have a complex history/aetiology

María Clara Bonaglia, Nehir Edibe Kurtas, Edoardo Errichiello et al. · Human Genetics · 2018 · 26 citations · Full text

Treatment of Smith‐Lemli‐Opitz syndrome: Results of a multicenter trial

Mira Irons, Ellen Roy Elias, Diane Abuelo et al. · American Journal of Medical Genetics · 1997 · 14 citations

Cholesterol Precursor, Metabolic Syndrome, Cholesterol Biosynthesis +12