Alice S. Brooks

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Corinne Stoetzel, Virginie Laurier, Erica E. Davis et al. · Nature Genetics · 2006 · 284 citations

Protein Function, Vertebrate-specific Chaperonin-like Protein, Protein Folding +9

Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice

Danny Halim, Michael P. Wilson, Daniel Oliver et al. · Proceedings of the National Academy of Sciences · 2017 · 125 citations · Full text

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, C. Navarro et al. · Human Mutation · 2013 · 114 citations · Full text

Developmental Anomaly, Developmental Biology, Mendelian Disorder +15

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

Margot R.F. Reijnders, Vasilios Zachariadis, Brooke Latour et al. · The American Journal of Human Genetics · 2016 · 106 citations · Full text

Developmental Anomaly, Developmental Biology, Mendelian Disorder +11

Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells

Jet Bliek, Mariëlle Alders, Saskia M. Maas et al. · European Journal of Human Genetics · 2009 · 98 citations · Full text

Bws Twins, Developmental Biology, Paternal Hypomethylation +12