Kyrieckos A. Aleck

Multiple malformation syndrome following fluconazole use in pregnancy: Report of an additional patient

Kyrieckos A. Aleck, Douglas L. Bartley · American Journal of Medical Genetics · 1997 · 180 citations

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Jennifer J. Johnston, Julie C. Sapp, Joyce Turner et al. · Human Mutation · 2010 · 127 citations · Full text

Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2

Nathaniel H. Robin, George Feldman, Adam Aronson et al. · Nature Genetics · 1995 · 122 citations

Mendelian Disorder, Genetic Disorder, Genetics +7

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

Estelle Colin, Jens Daniel, Alban Ziegler et al. · The American Journal of Human Genetics · 2016 · 119 citations · Full text

Molecular Neuroscience, Mendelian Disorder, Biallelic Variants +11

METACHROMATIC LEUKODYSTROPHY WITHOUT ARYLSULFATASE A DEFICIENCY

Larry J. Shapiro, Kyrieckos A. Aleck, Michael M. Kaback et al. · Pediatric Research · 1979 · 116 citations · Full text

Autoimmune Disease, Histopathology, Pathology +4