| Reverse genetic screening reveals poor correlation between morpholino-induced and mutant phenotypes in zebrafish FO Kok, M Shin, CW Ni, A Gupta, AS Grosse, A van Impel, BC Kirchmaier, ... Developmental cell 32 (1), 97-108, 2015 | 892 | 2015 |
| What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia IM Campbell, SE Sheppard, TB Crowley, DE McGinn, A Bailey, ... American Journal of Medical Genetics Part A 176 (10), 2058-2069, 2018 | 142 | 2018 |
| Kaposiform lymphangiomatosis effectively treated with MEK inhibition JB Foster, D Li, ME March, SE Sheppard, DM Adams, H Hakonarson, ... EMBO Molecular Medicine 12 (10), e12324, 2020 | 60 | 2020 |
| Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss S Sheppard, S Biswas, MH Li, V Jayaraman, I Slack, EJ Romasko, ... Genetics in Medicine 20 (12), 1663-1676, 2018 | 44 | 2018 |
| Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome SE Sheppard, IM Campbell, MH Harr, N Gold, D Li, HT Bjornsson, ... American Journal of Medical Genetics Part A 185 (6), 1649-1665, 2021 | 41 | 2021 |
| Quantitative analysis of Akt phosphorylation and activity in response to EGF and insulin treatment N Kumar, R Afeyan, S Sheppard, B Harms, DA Lauffenburger Biochemical and biophysical research communications 354 (1), 14-20, 2007 | 41 | 2007 |
| Genotype–phenotype specificity in Menke–Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP S Banka, R Sayer, C Breen, S Barton, J Pavaine, SE Sheppard, ... American Journal of Medical Genetics Part A 179 (6), 1058-1062, 2019 | 39 | 2019 |
| Post-transcriptional mechanisms contribute to Etv2 repression during vascular development JC Moore, S Sheppard-Tindell, IA Shestopalov, S Yamazoe, JK Chen, ... Developmental biology 384 (1), 128-140, 2013 | 34 | 2013 |
| Accurate identification of polyadenylation sites from 3′ end deep sequencing using a naive Bayes classifier S Sheppard, ND Lawson, LJ Zhu Bioinformatics 29 (20), 2564-2571, 2013 | 33 | 2013 |
| Accurate identification of polyadenylation sites from 3′ end deep sequencing using a naive Bayes classifier S Sheppard, ND Lawson, LJ Zhu Bioinformatics 29 (20), 2564-2571, 2013 | 33 | 2013 |
| Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema AB Byrne, P Brouillard, DL Sutton, J Kazenwadel, S Montazaribarforoushi, ... Science Translational Medicine 14 (634), eabm4869, 2022 | 19 | 2022 |
| Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities AM Muir, JL Cohen, SE Sheppard, P Guttipatti, TY Lo, N Weed, D Doherty, ... The American Journal of Human Genetics 106 (5), 623-631, 2020 | 19 | 2020 |
| Androgenetic chimerism as an etiology for Beckwith–Wiedemann syndrome: diagnosis and management SE Sheppard, E Lalonde, NS Adzick, AE Beck, T Bhatti, DD De Leon, ... Genetics in Medicine 21 (11), 2644-2649, 2019 | 16 | 2019 |
| Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants S Kayumi, LA Pérez-Jurado, M Palomares, S Rangu, SE Sheppard, ... Genetics in Medicine 24 (11), 2351-2366, 2022 | 15 | 2022 |
| Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition SE Sheppard, ME March, C Seiler, LS Matsuoka, SE Kim, C Kao, AI Rubin, ... JCI insight 8 (9), 2023 | 14 | 2023 |
| Genomic profiling informs diagnoses and treatment in vascular anomalies D Li, SE Sheppard, ME March, MR Battig, LF Surrey, AS Srinivasan, ... Nature medicine 29 (6), 1530-1539, 2023 | 13 | 2023 |
| Trisomy 9 mosaic syndrome: sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines M Li, J Glass, X Du, H Dubbs, MH Harr, M Falk, T Smolarek, RJ Hopkin, ... American Journal of Medical Genetics Part A 185 (8), 2374-2383, 2021 | 13 | 2021 |
| Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly M Liu, CL Smith, DM Biko, D Li, E Pinto, N O’Connor, C Skraban, ... European Journal of Human Genetics 30 (9), 1022-1028, 2022 | 12 | 2022 |
| Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot D Škorić-Milosavljević, N Lahrouchi, FM Bosada, G Dombrowsky, ... Genetics in Medicine 23 (10), 1952-1960, 2021 | 12 | 2021 |
| Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm SE Sheppard, A Smith, K Grand, J Pogoriler, AI Rubin, E Schindewolf, ... American Journal of Medical Genetics Part A 182 (4), 746-754, 2020 | 11 | 2020 |
