| Smith's recognizable patterns of human malformation-E-book KL Jones, MC Jones, M Del Campo Elsevier Health Sciences, 2021 | 4665 | 2021 |
| The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant … L Nanni, JE Ming, M Bocian, K Steinhaus, DW Bianchi, ... Human molecular genetics 8 (13), 2479-2488, 1999 | 405 | 1999 |
| Severe expressive-language delay related to duplication of the Williams–Beuren locus MJ Somerville, CB Mervis, EJ Young, EJ Seo, M Del Campo, S Bamforth, ... New England Journal of Medicine 353 (16), 1694-1701, 2005 | 367 | 2005 |
| Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy T Cullup, AL Kho, C Dionisi-Vici, B Brandmeier, F Smith, Z Urry, ... Nature genetics 45 (1), 83-87, 2013 | 276 | 2013 |
| Epidemiology of FASD in a province in Italy: Prevalence and characteristics of children in a random sample of schools PA May, D Fiorentino, J Phillip Gossage, WO Kalberg, H Eugene Hoyme, ... Alcoholism: Clinical and Experimental Research 30 (9), 1562-1575, 2006 | 259 | 2006 |
| The phenotypic spectrum of congenital Zika syndrome M Del Campo, IML Feitosa, EM Ribeiro, DDG Horovitz, ALS Pessoa, ... American Journal of Medical Genetics Part A 173 (4), 841-857, 2017 | 251 | 2017 |
| Developmental patterning genes and their conserved functions: from model organisms to humans A Veraksa, M Del Campo, W McGinnis Molecular genetics and metabolism 69 (2), 85-100, 2000 | 194 | 2000 |
| 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 | 176 | 2014 |
| Partial 7q11. 23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams–Beuren syndrome neurocognitive profile A Antonell, M Del Campo, LF Magano, L Kaufmann, JM De La Iglesia, ... Journal of medical genetics 47 (5), 312-320, 2010 | 163 | 2010 |
| Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders M Codina-Solà, B Rodríguez-Santiago, A Homs, J Santoyo, M Rigau, ... Molecular autism 6, 1-16, 2015 | 143 | 2015 |
| Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder I Cusco, A Medrano, B Gener, M Vilardell, F Gallastegui, O Villa, ... Human molecular genetics 18 (10), 1795-1804, 2009 | 138 | 2009 |
| Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension M Del Campo, A Antonell, LF Magano, FJ Muñoz, R Flores, M Bayés, ... The American Journal of Human Genetics 78 (4), 533-542, 2006 | 133 | 2006 |
| A review of the physical features of the fetal alcohol spectrum disorders M Del Campo, KL Jones European journal of medical genetics 60 (1), 55-64, 2017 | 125 | 2017 |
| Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster M Del Campo, MC Jones, AN Veraksa, CJ Curry, KL Jones, JT Mascarello, ... The American Journal of Human Genetics 65 (1), 104-110, 1999 | 125 | 1999 |
| An RCT of rapid genomic sequencing among seriously ill infants results in high clinical utility, changes in management, and low perceived harm DP Dimmock, MM Clark, M Gaughran, JA Cakici, SA Caylor, C Clarke, ... The American Journal of Human Genetics 107 (5), 942-952, 2020 | 118 | 2020 |
| MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study P Makrythanasis, BW Van Bon, M Steehouwer, B Rodríguez‐Santiago, ... Clinical genetics 84 (6), 539-545, 2013 | 113 | 2013 |
| Developmental delay in fetal aminopterin/methotrexate syndrome M Del Campo, K Kosaki, FC Bennett, KL Jones Teratology 60 (1), 10-12, 1999 | 107 | 1999 |
| Fetal alcohol spectrum disorders: extending the range of structural defects KL Jones, HE Hoyme, LK Robinson, M Del Campo, MA Manning, ... American Journal of Medical Genetics Part A 152 (11), 2731-2735, 2010 | 93 | 2010 |
| Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment M Schraders, L Ruiz-Palmero, E Kalay, J Oostrik, FJ del Castillo, O Sezgin, ... The American Journal of Human Genetics 91 (5), 883-889, 2012 | 90 | 2012 |
| Analysis of two language-related genes in autism: A case–control association study of: FOXP2: And: CNTNAP2 C Toma, A Hervás, B Torrico, N Balmaña, M Salgado, M Maristany, ... Psychiatric genetics 23 (2), 82-85, 2013 | 89 | 2013 |
