Brian P. Brooks

Primary Cilium-Mediated Retinal Pigment Epithelium Maturation Is Disrupted in Ciliopathy Patient Cells

Helen May‐Simera, Qin Wan, Balendu Shekhar Jha et al. · Cell Reports · 2018 · 161 citations · Full text

Life Sciences, Cell Biology, Developmental Biology +17

Gene Therapy of Dominant CRX-Leber Congenital Amaurosis using Patient Stem Cell-Derived Retinal Organoids

Kamil Kruczek, Zepeng Qu, James L. Gentry et al. · Stem Cell Reports · 2021 · 120 citations · Full text

Medicine, Genetics, Ophthalmology +17

Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome

Joan C. Han, Audrey Thurm, Christine Golden Williams et al. · Cortex · 2013 · 103 citations · Full text

Life Sciences, Genetics, Neuroscience +16

Compound heterozygosity for mutations in <i>PAX6</i> in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia

Benjamin D. Solomon, Daniel Pineda‐Alvarez, Joan Z. Balog et al. · American Journal of Medical Genetics Part A · 2009 · 92 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness

Aman George, Dina J. Zand, Robert B. Hufnagel et al. · The American Journal of Human Genetics · 2016 · 89 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13