| Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting CH Gravholt, NH Andersen, GS Conway, OM Dekkers, ME Geffner, ... European journal of endocrinology 177 (3), G1-G70, 2017 | 1052 | 2017 |
| De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes JB Rivière, GM Mirzaa, BJ O'Roak, M Beddaoui, D Alcantara, RL Conway, ... Nature genetics 44 (8), 934-940, 2012 | 717 | 2012 |
| Recommendations for the diagnosis and management of Turner syndrome P Saenger, KA Wikland, GS Conway, M Davenport, CH Gravholt, R Hintz, ... The Journal of Clinical Endocrinology & Metabolism 86 (7), 3061-3069, 2001 | 661 | 2001 |
| First-trimester use of selective serotonin-reuptake inhibitors and the risk of birth defects C Louik, AE Lin, MM Werler, S Hernández-Díaz, AA Mitchell New England Journal of Medicine 356 (26), 2675-2683, 2007 | 652 | 2007 |
| 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 | 605 | 2003 |
| CHARGE association: an update and review for the primary pediatrician KD Blake, SLH Davenport, BD Hall, MA Hefner, RA Pagon, MS Williams, ... Clinical pediatrics 37 (3), 159-173, 1998 | 586 | 1998 |
| Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force JM Friedman, J Arbiser, JA Epstein, DH Gutmann, SJ Huot, AE Lin, ... Genetics in Medicine 4 (3), 105-111, 2002 | 479 | 2002 |
| Seeking causes: classifying and evaluating congenital heart defects in etiologic studies LD Botto, AE Lin, T Riehle‐Colarusso, S Malik, A Correa Birth Defects Research Part A: Clinical and Molecular Teratology 79 (10 …, 2007 | 450 | 2007 |
| Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation SR Lalani, AM Safiullah, SD Fernbach, KG Harutyunyan, C Thaller, ... The American Journal of Human Genetics 78 (2), 303-314, 2006 | 450 | 2006 |
| Vital signs: update on Zika virus–associated birth defects and evaluation of all US infants with congenital Zika virus exposure—US Zika Pregnancy Registry, 2016 MR Reynolds MMWR. Morbidity and mortality weekly report 66, 2017 | 332 | 2017 |
| Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations JJ Johnston, I Olivos-Glander, C Killoran, E Elson, JT Turner, KF Peters, ... The American Journal of Human Genetics 76 (4), 609-622, 2005 | 304 | 2005 |
| Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1 AE Lin, PH Birch, BR Korf, R Tenconi, M Niimura, M Poyhonen, ... American journal of medical genetics 95 (2), 108-117, 2000 | 282 | 2000 |
| Reviewing the evidence for mycophenolate mofetil as a new teratogen: case report and review of the literature MT Anderka, AE Lin, DN Abuelo, AA Mitchell, SA Rasmussen American Journal of Medical Genetics Part A 149 (6), 1241-1248, 2009 | 265 | 2009 |
| Further delineation of aortic dilation, dissection, and rupture in patients with Turner syndrome AE Lin, B Lippe, RG Rosenfeld Pediatrics 102 (1), e12-e12, 1998 | 259 | 1998 |
| TFAP2A mutations result in branchio-oculo-facial syndrome JM Milunsky, TA Maher, G Zhao, AE Roberts, HJ Stalker, RT Zori, ... The American Journal of Human Genetics 82 (5), 1171-1177, 2008 | 235 | 2008 |
| HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation KW Gripp, AE Lin, DL Stabley, L Nicholson, CI Scott Jr, D Doyle, Y Aoki, ... American Journal of Medical Genetics Part A 140 (1), 1-7, 2006 | 213 | 2006 |
| Clinical and molecular aspects of the Simpson‐Golabi‐Behmel syndrome G Neri, F Gurrieri, G Zanni, A Lin American journal of medical genetics 79 (4), 279-283, 1998 | 208 | 1998 |
| Aortic dilation, dissection, and rupture in patients with Turner syndrome AE Lin, BM Lippe, ME Geffner, A Gomes, JF Lois, CW Barton, A Rosenthal, ... The Journal of pediatrics 109 (5), 820-826, 1986 | 205 | 1986 |
| Clinical approach to genetic cardiomyopathy in children ML Schwartz, GF Cox, AE Lin, MS Korson, A Perez-Atayde, RV Lacro, ... Circulation 94 (8), 2021-2038, 1996 | 195 | 1996 |
| Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations KW Gripp, AE Lin Genetics in Medicine 14 (3), 285-292, 2012 | 186 | 2012 |
