Rare variants in NR2F2 cause congenital heart defects in humans S Al Turki, AK Manickaraj, CL Mercer, SS Gerety, MP Hitz, S Lindsay, ... The American Journal of Human Genetics 94 (4), 574-585, 2014 | 181 | 2014 |
Rare variants in NR2F2 cause congenital heart defects in humans S Al Turki, AK Manickaraj, CL Mercer, SS Gerety, MP Hitz, S Lindsay, ... The American Journal of Human Genetics 94 (4), 574-585, 2014 | 181 | 2014 |
Rare variants in NR2F2 cause congenital heart defects in humans S Al Turki, AK Manickaraj, CL Mercer, SS Gerety, MP Hitz, S Lindsay, ... The American Journal of Human Genetics 94 (4), 574-585, 2014 | 181 | 2014 |
Recommendations for the integration of genomics into clinical practice S Bowdin, A Gilbert, E Bedoukian, C Carew, MP Adam, J Belmont, ... Genetics in Medicine 18 (11), 1075-1084, 2016 | 148 | 2016 |
Bi-allelic mutations in PKD1L1 are associated with laterality defects in humans F Vetrini, LCA D’Alessandro, ZC Akdemir, A Braxton, MS Azamian, ... The American Journal of Human Genetics 99 (4), 886-893, 2016 | 77 | 2016 |
Genetic architecture of laterality defects revealed by whole exome sequencing AH Li, NA Hanchard, M Azamian, LCA D’Alessandro, Z Coban-Akdemir, ... European Journal of Human Genetics 27 (4), 563-573, 2019 | 61 | 2019 |
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect LCA D’Alessandro, S Al Turki, AK Manickaraj, D Manase, BJM Mulder, ... Genetics in Medicine 18 (2), 189-198, 2016 | 53 | 2016 |
Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns AH Li, NA Hanchard, D Furthner, S Fernbach, M Azamian, A Nicosia, ... Genome medicine 9, 1-10, 2017 | 42 | 2017 |
Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unit RC Ahrens‐Nicklas, S Khan, J Garbarini, S Woyciechowski, ... American journal of medical genetics Part A 170 (12), 3090-3097, 2016 | 40 | 2016 |
The phenotypic spectrum of ZIC3 mutations includes isolated d‐transposition of the great arteries and double outlet right ventricle LCA D'Alessandro, BC Latney, PC Paluru, E Goldmuntz American Journal of Medical Genetics Part A 161 (4), 792-802, 2013 | 38 | 2013 |
A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20 NA Hanchard, S Swaminathan, K Bucasas, D Furthner, S Fernbach, ... Human molecular genetics 25 (11), 2331-2341, 2016 | 36 | 2016 |
Situs Inversus Totalis and a Novel ZIC3 Mutation in a Family with X‐linked Heterotaxy LCA D'Alessandro, B Casey, VM Siu Congenital heart disease 8 (2), E36-E40, 2013 | 36 | 2013 |
Membranous duodenal stenosis: initial experience with balloon dilatation in four children RR Van Rijn, KP Van Lienden, TL Fortuna, LCA D’Alessandro, ... European journal of radiology 59 (1), 29-32, 2006 | 33 | 2006 |
Life-threatening flecainide intoxication in a young child secondary to medication error LCA D'Alessandro, MJ Rieder, J Gloor, D Freeman, I Buffo-Sequiera Annals of Pharmacotherapy 43 (9), 1522-1527, 2009 | 22 | 2009 |
Assessment of large copy number variants in patients with apparently isolated congenital left‐sided cardiac lesions reveals clinically relevant genomic events NA Hanchard, LA Umana, L D'Alessandro, M Azamian, M Poopola, ... American journal of medical genetics Part A 173 (8), 2176-2188, 2017 | 21 | 2017 |
Horseshoe lung and facio‐auriculo‐vertebral sequence: A previously unreported association L D'Alessandro, T Kovesi, S Massoud, J Lougheed, A Hunter, J Reisman Pediatric pulmonology 41 (6), 592-596, 2006 | 16 | 2006 |
High throughput exome coverage of clinically relevant cardiac genes D Manase, LCA D’Alessandro, AK Manickaraj, S Al Turki, ME Hurles, ... BMC Medical Genomics 7, 1-10, 2014 | 13 | 2014 |
Genetic diagnosis and the severity of cardiovascular phenotype in patients with elastin arteriopathy S Min, C Kinnear, LCA D’Alessandro, J Bouwmeester, R Yao, D Chiasson, ... Circulation: Genomic and Precision Medicine 13 (6), e002971, 2020 | 10 | 2020 |
Genetic testing in congenital heart disease: ethical considerations KY Lin, LCA D’Alessandro, E Goldmuntz World Journal for Pediatric and Congenital Heart Surgery 4 (1), 53-57, 2013 | 6 | 2013 |
The prevalence of 16p12. 1 microdeletion in patients with left‐sided cardiac lesions LCA D'Alessandro, P Werner, HM Xie, H Hakonarson, PS White, ... Congenital heart disease 9 (1), 83-86, 2014 | 5 | 2014 |