| Further delineation of Kabuki syndrome in 48 well‐defined new individuals L Armstrong, AAE Moneim, K Aleck, DJ Aughton, C Baumann, ... American Journal of Medical Genetics Part A 132 (3), 265-272, 2005 | 128 | 2005 |
| Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature S Vendramini-Pittoli, NM Kokitsu-Nakata Clinical dysmorphology 18 (2), 67-77, 2009 | 85 | 2009 |
| Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears CT Gordon, F Petit, PM Kroisel, L Jakobsen, RM Zechi-Ceide, M Oufadem, ... The American Journal of Human Genetics 93 (6), 1118-1125, 2013 | 82 | 2013 |
| Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome A Kievit, F Tessadori, H Douben, I Jordens, M Maurice, J Hoogeboom, ... European journal of human genetics 26 (2), 210-219, 2018 | 51 | 2018 |
| Lower lip pits and anorectal anomalies in Kabuki syndrome NM Kokitsu‐Nakata, S Vendramini, ML Guion‐Almeida American journal of medical genetics 86 (3), 282-284, 1999 | 44 | 1999 |
| Auriculo‐condylar syndrome: Additional patients ML Guion‐Almeida, RM Zechi‐Ceide, S Vendramini, NM Kokitsu‐Nakata American journal of medical genetics 112 (2), 209-214, 2002 | 42 | 2002 |
| Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect VL Romanelli Tavares, CT Gordon, RM Zechi-Ceide, NM Kokitsu-Nakata, ... European journal of human genetics 23 (4), 481-485, 2015 | 36 | 2015 |
| Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome NM Kokitsu‐Nakata, AL Petrin, JP Heard, S Vendramini‐Pittoli, LE Henkle, ... American Journal of Medical Genetics Part A 158 (8), 2003-2008, 2012 | 28 | 2012 |
| Auriculo‐condylar syndrome: Further evidence for a new disorder ML Guion‐Almeida, NM Kokitsu‐Nakata, RM Zechi‐Ceide, S Vendramini American journal of medical genetics 86 (2), 130-133, 1999 | 27 | 1999 |
| Interstitial 1q21. 1 microdeletion is associated with severe skeletal anomalies, dysmorphic face and moderate intellectual disability BF Gamba, RM Zechi-Ceide, NM Kokitsu-Nakata, S Vendramini-Pittoli, ... Molecular syndromology 7 (6), 344-348, 2016 | 24 | 2016 |
| Blepharo‐cheilo‐dontic (BCD) syndrome: Report on four new patients ML Guion‐Almeida, ESO Rodini, NM Kokitsu‐Nakata, ... American journal of medical genetics 76 (2), 133-136, 1998 | 23 | 1998 |
| Auriculo‐condylar syndrome. Confronting a diagnostic challenge NM Kokitsu‐Nakata, RM Zechi‐Ceide, S Vendramini‐Pittoli, ... American Journal of Medical Genetics Part A 158 (1), 59-65, 2012 | 21 | 2012 |
| Clinical variability in cerebro-oculo-nasal syndrome: report on two additional cases ML Guion-Almeida, NM Kokitsu-Nakata, A Richieri-Costa Clinical Dysmorphology 9 (4), 253-257, 2000 | 19 | 2000 |
| Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome VL Romanelli Tavares, RM Zechi‐Ceide, DR Bertola, CT Gordon, ... American Journal of Medical Genetics Part A 173 (4), 938-945, 2017 | 18 | 2017 |
| Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases N Vegas, Z Demir, CT Gordon, S Breton, VL Romanelli Tavares, ... Human mutation 43 (5), 582-594, 2022 | 12 | 2022 |
| Saethre–Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7 RM Zechi‐Ceide, MG Rodrigues, FS Jehee, NM Kokitsu‐Nakata, ... American Journal of Medical Genetics Part A 158 (7), 1680-1685, 2012 | 11 | 2012 |
| Insight into the ontogeny of GnRH neurons from patients born without a nose A Delaney, R Volochayev, B Meader, J Lee, K Almpani, GY Noukelak, ... The Journal of Clinical Endocrinology & Metabolism 105 (5), 1538-1551, 2020 | 10 | 2020 |
| An unusual presentation of oculoauriculovertebral spectrum with a Tessier 30 cleft: report on two cases S Vendramini-Pittoli, ML Guion-Almeida, JM Santos, SMG Júnior, ... Clinical Dysmorphology 24 (4), 144-150, 2015 | 10 | 2015 |
| Multisystem involvement in a patient with a PTCH1 mutation: clinical and imaging findings A Richieri-Costa, S Vendramini-Pittoli, NM Kokitsu-Nakata, ... Journal of Pediatric Genetics 6 (02), 103-106, 2017 | 8 | 2017 |
| Cerebro‐oculo‐nasal syndrome: Report of a case with a severe phenotype NM Kokitsu‐Nakata, SVP Pittoli, A Richieri da Costa American Journal of Medical Genetics Part A 149 (3), 519-520, 2009 | 7 | 2009 |
