| Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA VL Luks, N Kamitaki, MP Vivero, W Uller, R Rab, JVMG Bovée, KL Rialon, ... The Journal of pediatrics 166 (4), 1048-1054. e5, 2015 | 528 | 2015 |
| Actionable, pathogenic incidental findings in 1,000 participants’ exomes MO Dorschner, LM Amendola, EH Turner, PD Robertson, BH Shirts, ... The American Journal of Human Genetics 93 (4), 631-640, 2013 | 415 | 2013 |
| Actionable exomic incidental findings in 6503 participants: challenges of variant classification LM Amendola, MO Dorschner, PD Robertson, JS Salama, R Hart, ... Genome research 25 (3), 305-315, 2015 | 369 | 2015 |
| EGF-CFC proteins are essential coreceptors for the TGF-β signals Vg1 and GDF1 SK Cheng, F Olale, JT Bennett, AH Brivanlou, AF Schier Genes & development 17 (1), 31-36, 2003 | 201 | 2003 |
| Homozygous mutations in CSF1R cause a pediatric-onset leukoencephalopathy and can result in congenital absence of microglia N Oosterhof, IJ Chang, EG Karimiani, LE Kuil, DM Jensen, R Daza, ... The American Journal of Human Genetics 104 (5), 936-947, 2019 | 192 | 2019 |
| Targeted long-read sequencing identifies missing disease-causing variation DE Miller, A Sulovari, T Wang, H Loucks, K Hoekzema, KM Munson, ... The American Journal of Human Genetics 108 (8), 1436-1449, 2021 | 129 | 2021 |
| A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair KW Gripp, KA Aldinger, JT Bennett, L Baker, J Tusi, N Powell‐Hamilton, ... American journal of medical genetics Part A 170 (9), 2237-2247, 2016 | 126 | 2016 |
| Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction W Abi Habib, F Brioude, T Edouard, JT Bennett, A Lienhardt-Roussie, ... Genetics in Medicine 20 (2), 250-258, 2018 | 122 | 2018 |
| Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly N Di Donato, AE Timms, KA Aldinger, GM Mirzaa, JT Bennett, S Collins, ... Genetics in Medicine 20 (11), 1354-1364, 2018 | 118 | 2018 |
| A dyadic approach to the delineation of diagnostic entities in clinical genomics LG Biesecker, MP Adam, FS Alkuraya, AR Amemiya, MJ Bamshad, ... The American Journal of Human Genetics 108 (1), 8-15, 2021 | 116 | 2021 |
| Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in … M Koczkowska, T Callens, Y Chen, A Gomes, AD Hicks, A Sharp, E Johns, ... Human mutation 41 (1), 299-315, 2020 | 109 | 2020 |
| Mosaic activating mutations in FGFR1 cause encephalocraniocutaneous lipomatosis JT Bennett, TY Tan, D Alcantara, M Tétrault, AE Timms, D Jensen, ... The American Journal of Human Genetics 98 (3), 579-587, 2016 | 98 | 2016 |
| Nodal signaling activates differentiation genes during zebrafish gastrulation JT Bennett, K Joubin, S Cheng, P Aanstad, R Herwig, M Clark, H Lehrach, ... Developmental biology 304 (2), 525-540, 2007 | 96 | 2007 |
| Clinical molecular diagnosis of Wilson disease J Bennett, SH Hahn Seminars in liver disease 31 (03), 233-238, 2011 | 77 | 2011 |
| Mixer/Bon and FoxH1/Sur have overlapping and divergent roles in Nodal signaling and mesendoderm induction PS Kunwar, S Zimmerman, JT Bennett, Y Chen, M Whitman, AF Schier Oxford University Press for The Company of Biologists Limited 130 (23), 5589 …, 2003 | 76 | 2003 |
| National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project. Actionable, pathogenic incidental findings in 1,000 participants’ exomes MO Dorschner, LM Amendola, EH Turner, PD Robertson, BH Shirts, ... Am J Hum Genet 93 (4), 631-640, 2013 | 69 | 2013 |
| Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia L Yu, JT Bennett, J Wynn, GL Carvill, YH Cheung, Y Shen, GB Mychaliska, ... Journal of medical genetics 51 (3), 197-202, 2014 | 67 | 2014 |
| Redefining the etiologic landscape of cerebellar malformations KA Aldinger, AE Timms, Z Thomson, GM Mirzaa, JT Bennett, ... The American Journal of Human Genetics 105 (3), 606-615, 2019 | 66 | 2019 |
| Clinical and genetic characterization of AP4B1‐associated SPG47 D Ebrahimi‐Fakhari, C Cheng, K Dies, A Diplock, DB Pier, CS Ryan, ... American Journal of Medical Genetics Part A 176 (2), 311-318, 2018 | 57 | 2018 |
| Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia D Ebrahimi-Fakhari, J Teinert, R Behne, M Wimmer, A D'amore, ... Brain 143 (10), 2929-2944, 2020 | 53 | 2020 |
