Alice S. Brooks

Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems

Alice S. Brooks, Aida M. Bertoli‐Avella, Grzegorz Burzynski et al. · The American Journal of Human Genetics · 2005 · 149 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Hongsheng Gui, Duco Schriemer, William Cheng et al. · Genome biology · 2017 · 91 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

<i>ACTG2</i>variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Danny Halim, Robert M.W. Hofstra, Luca Signorile et al. · Human Molecular Genetics · 2015 · 69 citations

Life Sciences, Molecular Biology, Molecular Genetics +17

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

Caroline Michot, Carine Le Goff, Clémentine Mahaut et al. · European Journal of Human Genetics · 2014 · 56 citations

Medicine, Molecular Genetics, Molecular Medicine +6

Identifying Candidate Hirschsprung Disease–Associated RET Variants

Grzegorz Burzynski, Ilja M. Nolte, Agnes Bronda et al. · The American Journal of Human Genetics · 2005 · 55 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10