Ivan F. M. Lo

Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG Hotspots

Mimi Wan, Stephen Sung Jae Lee, Xianyu Zhang et al. · The American Journal of Human Genetics · 1999 · 518 citations · Full text

Life Sciences, Genetics, Neuroscience +9

NSD1 mutations generate a genome-wide DNA methylation signature

Sanaa Choufani, Cheryl Cytrynbaum, Brian Hon‐Yin Chung et al. · Nature Communications · 2015 · 211 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Novel<i>FOXF1</i>Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

Partha Sen, Yaping Yang, Iris A. L. Silva et al. · Human Mutation · 2013 · 127 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Sarah M. Nikkel, Andrew Dauber, Sonja de Munnik et al. · Orphanet Journal of Rare Diseases · 2013 · 85 citations · Full text

Life Sciences, Genetics, Human Development +11

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

Sheila Unger, Ekkehart Lausch, Antonio Rossi et al. · American Journal of Medical Genetics Part A · 2010 · 82 citations

Life Sciences, Genetics, Molecular Genetics +17