| PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity M Tartaglia, K Kalidas, A Shaw, X Song, DL Musat, I van der Burgt, ... The American Journal of Human Genetics 70 (6), 1555-1563, 2002 | 852 | 2002 |
| Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy CA Kim, M Delépine, E Boutet, H El Mourabit, S Le Lay, M Meier, ... The Journal of Clinical Endocrinology & Metabolism 93 (4), 1129-1134, 2008 | 453 | 2008 |
| Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome GL Yamamoto, M Aguena, M Gos, C Hung, J Pilch, S Fahiminiya, ... Journal of medical genetics 52 (6), 413-421, 2015 | 258 | 2015 |
| Genotype-phenotype correlation in NF1: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848 M Koczkowska, Y Chen, T Callens, A Gomes, A Sharp, S Johnson, ... The American Journal of Human Genetics 102 (1), 69-87, 2018 | 199 | 2018 |
| Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome RL Hood, MA Lines, SM Nikkel, J Schwartzentruber, C Beaulieu, ... The American Journal of Human Genetics 90 (2), 308-313, 2012 | 197 | 2012 |
| Nosology of genetic skeletal disorders: 2023 revision S Unger, CR Ferreira, GR Mortier, H Ali, DR Bertola, A Calder, DH Cohn, ... American Journal of Medical Genetics Part A 191 (5), 1164-1209, 2023 | 144 | 2023 |
| Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases A Verloes, N Di Donato, J Masliah-Planchon, M Jongmans, ... European Journal of Human Genetics 23 (3), 292-301, 2015 | 144 | 2015 |
| Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations ACV Krepischi-Santos, AM Vianna-Morgante, FS Jehee, ... Cytogenetic and genome research 115 (3-4), 254-261, 2006 | 141 | 2006 |
| A novel mutation of IL1RN in the deficiency of interleukin‐1 receptor antagonist syndrome: Description of two unrelated cases from Brazil AA Jesus, M Osman, CA Silva, PW Kim, TH Pham, M Gadina, B Yang, ... Arthritis & Rheumatism 63 (12), 4007-4017, 2011 | 122 | 2011 |
| A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects FP Favaro, L Alvizi, RM Zechi-Ceide, D Bertola, TM Felix, J de Souza, ... The American Journal of Human Genetics 94 (1), 120-128, 2014 | 118 | 2014 |
| Bi-allelic CSF1R mutations cause skeletal dysplasia of dysosteosclerosis-pyle disease spectrum and degenerative encephalopathy with brain malformation L Guo, DR Bertola, A Takanohashi, A Saito, Y Segawa, T Yokota, ... The American Journal of Human Genetics 104 (5), 925-935, 2019 | 109 | 2019 |
| Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice LELM Vissers, TC Cox, AM Maga, KM Short, F Wiradjaja, IM Janssen, ... PLoS genetics 7 (9), e1002278, 2011 | 102 | 2011 |
| Neurofibromatosis–Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient DR Bertola, AC Pereira, F Passetti, PSL de Oliveira, L Messiaen, BD Gelb, ... American Journal of Medical Genetics Part A 136 (3), 242-245, 2005 | 93 | 2005 |
| Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies CRDC Quaio, JF Carvalho, CA da Silva, C Bueno, AS Brasil, AC Pereira, ... American Journal of Medical Genetics Part A 158 (5), 1077-1082, 2012 | 92 | 2012 |
| New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder–Robinson X-linked recessive mental retardation syndrome G de Alencastro, DE McCloskey, SE Kliemann, CMC Maranduba, ... Journal of medical genetics 45 (8), 539-543, 2008 | 81 | 2008 |
| A new case of interstitial 6q16. 2 deletion in a patient with Prader–Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity MC Varela, AY Simões-Sato, CA Kim, DR Bertola, CIE De Castro, ... European journal of medical genetics 49 (4), 298-305, 2006 | 80 | 2006 |
| Growth standards of patients with Noonan and Noonan‐like syndromes with mutations in the RAS/MAPK pathway AC Malaquias, AS Brasil, AC Pereira, IJP Arnhold, BB Mendonca, ... American Journal of Medical Genetics Part A 158 (11), 2700-2706, 2012 | 79 | 2012 |
| Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system R Denadai, CE Raposo‐Amaral, D Bertola, C Kim, N Alonso, T Hart, ... American journal of medical genetics Part A 158 (4), 732-742, 2012 | 79 | 2012 |
| Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing … FS Jehee, JT Takamori, PFV Medeiros, ACB Pordeus, FRM Latini, ... European Journal of Medical Genetics 54 (4), e425-e432, 2011 | 77 | 2011 |
| Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia EM Wade, PB Daniel, ZA Jenkins, A McInerney-Leo, P Leo, T Morgan, ... The American Journal of Human Genetics 99 (2), 392-406, 2016 | 71 | 2016 |
