| Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation MA Deardorff, M Kaur, D Yaeger, A Rampuria, S Korolev, J Pie, ... The American Journal of Human Genetics 80 (3), 485-494, 2007 | 598 | 2007 |
| Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement AD Kline, JF Moss, A Selicorni, AM Bisgaard, MA Deardorff, PM Gillett, ... Nature Reviews Genetics 19 (10), 649-666, 2018 | 332 | 2018 |
| Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked … FJ Kaiser, M Ansari, D Braunholz, M Concepción Gil-Rodríguez, ... Human molecular genetics 23 (11), 2888-2900, 2014 | 177 | 2014 |
| Role of pinoline and melatonin in stabilizing hepatic microsomal membranes against oxidative stress JJ Garcia, RJ Reiter, J Pie, GG Ortiz, J Cabrera, RM Sainz, ... Journal of bioenergetics and biomembranes 31 (6), 609-616, 1999 | 133 | 1999 |
| Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey S Rohatgi, D Clark, AD Kline, LG Jackson, J Pie, V Siu, FJ Ramos, ... American Journal of Medical Genetics Part A 152 (7), 1641-1653, 2010 | 109 | 2010 |
| Phenotypes and genotypes in individuals with SMC1A variants S Huisman, PA Mulder, E Redeker, I Bader, AM Bisgaard, A Brooks, ... American Journal of Medical Genetics Part A 173 (8), 2108-2125, 2017 | 106 | 2017 |
| De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes MC Gil‐Rodríguez, MA Deardorff, M Ansari, CA Tan, I Parenti, ... Human mutation 36 (4), 454-462, 2015 | 106 | 2015 |
| Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome J Pié, MC Gil‐Rodríguez, M Ciero, E López‐Viñas, MP Ribate, M Arnedo, ... American Journal of Medical Genetics Part A 152 (4), 924-929, 2010 | 104 | 2010 |
| Molecular genetics of HMG-CoA lyase deficiency J Pié, E Lopez-Vinas, B Puisac, S Menao, A Pié, C Casale, FJ Ramos, ... Molecular genetics and metabolism 92 (3), 198-209, 2007 | 91 | 2007 |
| Oxidative toxicity in models of neurodegeneration: responses to melatonin RJ Reiter, JJ Garcia, J Pie Restorative neurology and neuroscience 12 (2, 3), 135-142, 1998 | 82 | 1998 |
| Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes I Parenti, ME Teresa-Rodrigo, J Pozojevic, S Ruiz Gil, I Bader, ... Human genetics 136 (3), 307-320, 2017 | 80 | 2017 |
| Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes A Latorre-Pellicer, Á Ascaso, L Trujillano, M Gil-Salvador, M Arnedo, ... International Journal of Molecular Sciences 21 (3), 1042, 2020 | 56 | 2020 |
| Clinical utility gene card for: Cornelia de Lange syndrome FJ Ramos, B Puisac, C Baquero-Montoya, MC Gil-Rodríguez, I Bueno, ... European Journal of Human Genetics 23 (10), 1431, 2015 | 56 | 2015 |
| Genetic basis of mitochondrial HMG-CoA synthase deficiency R Aledo, J Zschocke, J Pié, C Mir, S Fiesel, E Mayatepek, GF Hoffmann, ... Human genetics 109 (1), 19-23, 2001 | 52 | 2001 |
| Expanding the clinical spectrum of the ‘HDAC8‐phenotype’ – implications for molecular diagnostics, counseling and risk prediction I Parenti, C Gervasini, J Pozojevic, KS Wendt, E Watrin, J Azzollini, ... Clinical genetics 89 (5), 564-573, 2016 | 50 | 2016 |
| A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency J PIÉ, N CASALS, CH CASALE, C BUESA, C MASCARÓ, A BARCELÓ, ... Biochemical Journal 323 (2), 329-335, 1997 | 46 | 1997 |
| A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination E Enervald, L Du, T Visnes, A Björkman, E Lindgren, J Wincent, G Borck, ... Journal of Experimental Medicine 210 (12), 2503-2513, 2013 | 44 | 2013 |
| Refining the diagnosis of mitochondrial HMG‐CoA synthase deficiency R Aledo, C Mir, RN Dalton, C Turner, J Pié, FG Hegardt, N Casals, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2006 | 44 | 2006 |
| Carnitine palmitoyltransferase 1C deficiency causes motor impairment and hypoactivity P Carrasco, J Jacas, I Sahún, H Muley, S Ramírez, B Puisac, P Mezquita, ... Behavioural brain research 256, 291-297, 2013 | 43 | 2013 |
| MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome I Parenti, F Diab, SR Gil, E Mulugeta, V Casa, R Berutti, RWW Brouwer, ... Cell Reports 31 (7), 107647, 2020 | 42 | 2020 |
