Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles AT Timberlake, J Choi, S Zaidi, Q Lu, C Nelson-Williams, ED Brooks, ... elife 5, e20125, 2016 | 192 | 2016 |
De novo mutation in genes regulating neural stem cell fate in human congenital hydrocephalus CG Furey, J Choi, SC Jin, X Zeng, AT Timberlake, C Nelson-Williams, ... Neuron 99 (2), 302-314. e4, 2018 | 132 | 2018 |
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus SC Jin, W Dong, AJ Kundishora, S Panchagnula, A Moreno-De-Luca, ... Nature medicine 26 (11), 1754-1765, 2020 | 116 | 2020 |
Highly efficient targeted mutagenesis in axolotl using Cas9 RNA-guided nuclease GP Flowers, AT Timberlake, KC Mclean, JR Monaghan, CM Crews Development 141 (10), 2165-2171, 2014 | 114 | 2014 |
De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis AT Timberlake, CG Furey, J Choi, C Nelson-Williams, ... Proceedings of the National Academy of Sciences 114 (35), E7341-E7347, 2017 | 96 | 2017 |
Genetics of nonsyndromic craniosynostosis AT Timberlake, JA Persing Plastic and reconstructive surgery 141 (6), 1508-1516, 2018 | 84 | 2018 |
Mutations in chromatin modifier and ephrin signaling genes in vein of Galen malformation D Duran, X Zeng, SC Jin, J Choi, C Nelson-Williams, B Yatsula, J Gaillard, ... Neuron 101 (3), 429-443. e4, 2019 | 77 | 2019 |
The role of mechanical forces and adenosine in the regulation of intestinal enterochromaffin cell serotonin secretion A Chin, B Svejda, BI Gustafsson, AB Granlund, AK Sandvik, A Timberlake, ... American Journal of Physiology-Gastrointestinal and Liver Physiology 302 (3 …, 2012 | 72 | 2012 |
Haploinsufficiency of SF3B2 causes craniofacial microsomia AT Timberlake, C Griffin, CL Heike, AV Hing, ML Cunningham, D Chitayat, ... Nature Communications 12 (1), 4680, 2021 | 66 | 2021 |
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus PQ Duy, SC Weise, C Marini, XJ Li, D Liang, PJ Dahl, S Ma, A Spajic, ... Nature neuroscience 25 (4), 458-473, 2022 | 61 | 2022 |
Serotonin and the 5‐HT 7 receptor: The link between hepatocytes, IGF‐1 and small intestinal neuroendocrine tumors B Svejda, M Kidd, A Timberlake, K Harry, A Kazberouk, S Schimmack, ... Cancer science 104 (7), 844-855, 2013 | 47 | 2013 |
The etiology of neuronal development in craniosynostosis: a working hypothesis ED Brooks, JS Beckett, J Yang, AT Timberlake, AH Sun, C Chuang, ... Journal of Craniofacial Surgery 29 (1), 49-55, 2018 | 34 | 2018 |
Three-dimensional imaging in rhinoplasty: a comparison of the simulated versus actual result S Persing, A Timberlake, S Madari, D Steinbacher Aesthetic Plastic Surgery 42, 1331-1335, 2018 | 32 | 2018 |
Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis AT Timberlake, SC Jin, C Nelson-Williams, R Wu, CG Furey, B Islam, ... Proceedings of the National Academy of Sciences 116 (30), 15116-15121, 2019 | 29 | 2019 |
SMAD6 genotype predicts neurodevelopment in nonsyndromic craniosynostosis RT Wu, AT Timberlake, PF Abraham, KS Gabrick, X Lu, CJ Peck, ... Plastic and reconstructive surgery 145 (1), 117e-125e, 2020 | 27 | 2020 |
Harnessing social media to advance research in plastic surgery AT Timberlake, RT Wu, R Cabrejo, K Gabrick, JA Persing Plastic and Reconstructive Surgery 142 (4), 1094-1100, 2018 | 27 | 2018 |
A genome-wide case-only test for the detection of digenic inheritance in human exomes G Kerner, M Bouaziz, A Cobat, B Bigio, AT Timberlake, J Bustamante, ... Proceedings of the National Academy of Sciences 117 (32), 19367-19375, 2020 | 26 | 2020 |
Co-occurrence of frameshift mutations in SMAD6 and TCF12 in a child with complex craniosynostosis AT Timberlake, R Wu, C Nelson-Williams, CG Furey, KI Hildebrand, ... Human Genome Variation 5 (1), 14, 2018 | 23 | 2018 |
Genetic influence on neurodevelopment in nonsyndromic craniosynostosis AT Timberlake, A Junn, R Flores, DA Staffenberg, RP Lifton, JA Persing Plastic and reconstructive surgery 149 (5), 1157-1165, 2022 | 22 | 2022 |
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy I Parenti, D Lehalle, C Nava, E Torti, E Leitão, R Person, T Mizuguchi, ... Human genetics 140 (7), 1109-1120, 2021 | 20 | 2021 |