| LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development Y Gong, RB Slee, N Fukai, G Rawadi, S Roman-Roman, AM Reginato, ... Cell 107 (4), 513-523, 2001 | 2682 | 2001 |
| A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome MJ Lindhurst, JC Sapp, JK Teer, JJ Johnston, EM Finn, K Peters, J Turner, ... New England Journal of Medicine 365 (7), 611-619, 2011 | 980 | 2011 |
| Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities LM Boyden, M Choi, KA Choate, CJ Nelson-Williams, A Farhi, HR Toka, ... Nature 482 (7383), 98-102, 2012 | 665 | 2012 |
| Guidelines for case classification for the national birth defects prevention study SA Rasmussen, RS Olney, LB Holmes, AE Lin, KM Keppler‐Noreuil, ... Birth Defects Research Part A: Clinical and Molecular Teratology 67 (3), 193-201, 2003 | 611 | 2003 |
| PIK3CA‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation KM Keppler‐Noreuil, JJ Rios, VER Parker, RK Semple, MJ Lindhurst, ... American journal of medical genetics Part A 167 (2), 287-295, 2015 | 529 | 2015 |
| In vitro fertilization is associated with an increase in major birth defects CK Olson, KM Keppler-Noreuil, PA Romitti, WT Budelier, G Ryan, ... Fertility and sterility 84 (5), 1308-1315, 2005 | 359 | 2005 |
| Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum KM Keppler‐Noreuil, JC Sapp, MJ Lindhurst, VER Parker, C Blumhorst, ... American journal of medical genetics Part A 164 (7), 1713-1733, 2014 | 305 | 2014 |
| Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy L Al-Olabi, S Polubothu, K Dowsett, KA Andrews, P Stadnik, AP Joseph, ... The Journal of clinical investigation 128 (4), 1496-1508, 2018 | 263 | 2018 |
| Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies KM Keppler‐Noreuil, VER Parker, TN Darling, JA Martinez‐Agosto American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2016 | 256 | 2016 |
| Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum VER Parker, KM Keppler-Noreuil, L Faivre, M Luu, NL Oden, L De Silva, ... Genetics in Medicine 21 (5), 1189-1198, 2019 | 157 | 2019 |
| OEIS complex (omphalocele‐exstrophy‐imperforate anus‐spinal defects): A review of 14 cases KM Keppler‐Noreuil American journal of medical genetics 99 (4), 271-279, 2001 | 157 | 2001 |
| Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model CS Carter, TW Vogel, Q Zhang, S Seo, RE Swiderski, TO Moninger, ... Nature medicine 18 (12), 1797-1804, 2012 | 133 | 2012 |
| Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies M Niceta, E Stellacci, KW Gripp, G Zampino, M Kousi, M Anselmi, ... The American Journal of Human Genetics 96 (5), 816-825, 2015 | 129 | 2015 |
| Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome R Shaheen, M Aglan, K Keppler-Noreuil, E Faqeih, S Ansari, K Horton, ... The American Journal of Human Genetics 92 (4), 598-604, 2013 | 127 | 2013 |
| Further delineation of Kabuki syndrome in 48 well‐defined new individuals L Armstrong, AAE Moneim, K Aleck, DJ Aughton, C Baumann, ... American Journal of Medical Genetics Part A 132 (3), 265-272, 2005 | 127 | 2005 |
| 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 | 124 | 2021 |
| Clinical features and management issues in Mowat–Wilson syndrome MP Adam, S Schelley, R Gallagher, AN Brady, K Barr, B Blumberg, ... American Journal of Medical Genetics Part A 140 (24), 2730-2741, 2006 | 124 | 2006 |
| Mosaic disorders of the PI3K/PTEN/AKT/TSC/mTORC1 signaling pathway N Nathan, KM Keppler-Noreuil, LG Biesecker, J Moss, TN Darling Dermatologic clinics 35 (1), 51-60, 2017 | 119 | 2017 |
| MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus F Quintero-Rivera, QJ Xi, KM Keppler-Noreuil, JH Lee, AW Higgins, ... Human molecular genetics 24 (8), 2375-2389, 2015 | 117 | 2015 |
| A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations G Canaud, AM Hammill, D Adams, M Vikkula, KM Keppler-Noreuil Orphanet Journal of Rare Diseases 16, 1-10, 2021 | 95 | 2021 |
