| Prevalence of fetal alcohol spectrum disorders in 4 US communities PA May, CD Chambers, WO Kalberg, J Zellner, H Feldman, D Buckley, ... Jama 319 (5), 474-482, 2018 | 746 | 2018 |
| Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders G Novarino, AG Fenstermaker, MS Zaki, M Hofree, JL Silhavy, ... science 343 (6170), 506-511, 2014 | 559 | 2014 |
| Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast‐flow vascular anomalies are caused by RASA1 mutations N Revencu, LM Boon, JB Mulliken, O Enjolras, MR Cordisco, PE Burrows, ... Human mutation 29 (7), 959-965, 2008 | 445 | 2008 |
| Evidence-based recommendations for the diagnosis and treatment of pediatric acne LF Eichenfield, AC Krakowski, C Piggott, J Del Rosso, H Baldwin, ... Pediatrics 131 (Supplement_3), S163-S186, 2013 | 373 | 2013 |
| Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome A Guemez-Gamboa, LN Nguyen, H Yang, MS Zaki, M Kara, T Ben-Omran, ... Nature genetics 47 (7), 809-813, 2015 | 230 | 2015 |
| Paternally inherited cis-regulatory structural variants are associated with autism WM Brandler, D Antaki, M Gujral, ML Kleiber, J Whitney, MS Maile, ... Science 360 (6386), 327-331, 2018 | 200 | 2018 |
| Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction N Akizu, V Cantagrel, MS Zaki, L Al-Gazali, X Wang, RO Rosti, E Dikoglu, ... Nature genetics 47 (5), 528-534, 2015 | 139 | 2015 |
| The genetic landscape of autism spectrum disorders RO Rosti, AA Sadek, KK Vaux, JG Gleeson Developmental Medicine & Child Neurology 56 (1), 12-18, 2014 | 120 | 2014 |
| AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder N Akizu, V Cantagrel, J Schroth, N Cai, K Vaux, D McCloskey, ... Cell 154 (3), 505-517, 2013 | 113 | 2013 |
| Frequency and complexity of de novo structural mutation in autism WM Brandler, D Antaki, M Gujral, A Noor, G Rosanio, TR Chapman, ... The American Journal of Human Genetics 98 (4), 667-679, 2016 | 112 | 2016 |
| A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex D Antaki, J Guevara, AX Maihofer, M Klein, M Gujral, J Grove, CE Carey, ... Nature genetics 54 (9), 1284-1292, 2022 | 92 | 2022 |
| Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome S Roosing, M Hofree, S Kim, E Scott, B Copeland, M Romani, JL Silhavy, ... Elife 4, e06602, 2015 | 87 | 2015 |
| Use of gabapentin in the treatment of childhood reflex sympathetic dystrophy DS Wheeler, KK Vaux, DA Tam Pediatric neurology 22 (3), 220-221, 2000 | 78 | 2000 |
| The safe and effective use of propofol sedation in children undergoing diagnostic and therapeutic procedures: experience in a pediatric ICU and a review of the literature DS Wheeler, KK Vaux, ML Ponaman, BW Poss Pediatric emergency care 19 (6), 385-392, 2003 | 76 | 2003 |
| Biallelic mutations in ADPRHL2, encoding ADP-ribosylhydrolase 3, lead to a degenerative pediatric stress-induced epileptic ataxia syndrome SG Ghosh, K Becker, H Huang, T Dixon-Salazar, G Chai, V Salpietro, ... The American Journal of Human Genetics 103 (3), 431-439, 2018 | 72 | 2018 |
| Cyclophosphamide, methotrexate, and cytarabine embropathy: is apoptosis the common pathway? KK Vaux, NCO Kahole, KL Jones Birth Defects Research Part A: Clinical and Molecular Teratology 67 (6), 403-408, 2003 | 59 | 2003 |
| Birth outcomes in women who have taken adalimumab in pregnancy: a prospective cohort study CD Chambers, DL Johnson, R Xu, Y Luo, J Lopez-Jimenez, MP Adam, ... PLoS One 14 (10), e0223603, 2019 | 57 | 2019 |
| FOXP1-related intellectual disability syndrome: a recognisable entity I Meerschaut, D Rochefort, N Revençu, J Pètre, C Corsello, GA Rouleau, ... Journal of medical genetics 54 (9), 613-623, 2017 | 56 | 2017 |
| Vocal cord abnormalities in Williams syndrome: a further manifestation of elastin deficiency KK Vaux, H Wojtczak, K Benirschke, KL Jones American Journal of Medical Genetics Part A 119 (3), 302-304, 2003 | 43 | 2003 |
| Neonatal phenotype in Kabuki syndrome KK Vaux, L Hudgins, LM Bird, E Roeder, CJR Curry, M Jones, KL Jones American Journal of Medical Genetics Part A 132 (3), 244-247, 2005 | 33 | 2005 |
Joseph GleesonUniversity of California, San DiegoVerified email at ucsd.edu
