| Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations S Passemard, L Titomanlio, M Elmaleh, A Afenjar, JL Alessandri, G Andria, ... Neurology 73 (12), 962-969, 2009 | 136 | 2009 |
| Loss of function of the nuclear receptor NR2F2, encoding COUP-TF2, causes testis development and cardiac defects in 46, XX children A Bashamboo, C Eozenou, A Jorgensen, J Bignon-Topalovic, JP Siffroi, ... The American Journal of Human Genetics 102 (3), 487-493, 2018 | 90 | 2018 |
| Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies MF Portnoi, MC Dumargne, S Rojo, SF Witchel, AJ Duncan, C Eozenou, ... Human molecular genetics 27 (7), 1228-1240, 2018 | 82 | 2018 |
| Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD) C Hyon, S Chantot‐Bastaraud, R Harbuz, R Bhouri, N Perrot, M Peycelon, ... American journal of medical genetics Part A 167 (8), 1851-1858, 2015 | 70 | 2015 |
| Sperm fluorescence in situ hybridization study in nine men carrying a Robertsonian or a reciprocal translocation: relationship between segregation modes and high-magnification … NG Cassuto, N Le Foll, S Chantot-Bastaraud, R Balet, D Bouret, A Rouen, ... Fertility and sterility 96 (4), 826-832, 2011 | 55 | 2011 |
| Familial Turner syndrome with an X; Y translocation mosaicism: implications for genetic counseling MF Portnoï, S Chantot-Bastaraud, S Christin-Maitre, B Carbonne, ... European Journal of Medical Genetics 55 (11), 635-640, 2012 | 37 | 2012 |
| A new 17p13. 3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X; 17 translocation C Hyon, S Marlin, S Chantot-Bastaraud, P Mabboux, MP Beaujard, ... European journal of medical genetics 54 (3), 287-291, 2011 | 34 | 2011 |
| Deletion of CPEB1 Gene: A Rare but Recurrent Cause of Premature Ovarian Insufficiency C Hyon, L Mansour-Hendili, S Chantot-Bastaraud, B Donadille, V Kerlan, ... The Journal of Clinical Endocrinology & Metabolism 101 (5), 2099-2104, 2016 | 30 | 2016 |
| Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11 C Wentzel, E Rajcan-Separovic, CAL Ruivenkamp, S Chantot-Bastaraud, ... European journal of human genetics 19 (9), 959-964, 2011 | 30 | 2011 |
| Simultaneous cell by cell study of both DNA fragmentation and chromosomal segregation in spermatozoa from chromosomal rearrangement carriers A Rouen, K Pyram, X Pollet-Villard, C Hyon, M Dorna, S Marques, ... Journal of assisted reproduction and genetics 30, 383-390, 2013 | 26 | 2013 |
| Should 45, X/46, XY boys with no or mild anomaly of external genitalia be investigated and followed up? L Dumeige, L Chatelais, C Bouvattier, M De Kerdanet, C Hyon, B Esteva, ... European journal of endocrinology 179 (3), 181-190, 2018 | 23 | 2018 |
| Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature S Heide, A Afenjar, P Edery, D Sanlaville, B Keren, A Rouen, ... European Journal of Medical Genetics 58 (6-7), 341-345, 2015 | 22 | 2015 |
| Discontinuous gradient centrifugation (DGC) decreases the proportion of chromosomally unbalanced spermatozoa in chromosomal rearrangement carriers A Rouen, R Balet, M Dorna, C Hyon, X Pollet-Villard, ... Hum Reprod 28 (7), 2003-2009, 2013 | 19 | 2013 |
| SRY‐negative 46,XX testicular/ovotesticular DSD: Long‐term outcomes and early blockade of gonadotropic axis S Lambert, M Peycelon, D Samara‐Boustani, C Hyon, L Dumeige, ... Clinical endocrinology 94 (4), 667-676, 2021 | 17 | 2021 |
| A novel 3q29 deletion in association with developmental delay and heart malformation—case report with literature review A Chirita Emandi, AI Dobrescu, G Doros, C Hyon, D Miclea, C Popoiu, ... Frontiers in Pediatrics 7, 270, 2019 | 10 | 2019 |
| Nuclear volume differences between balanced and unbalanced spermatozoa in chromosomal translocation carriers A Rouen, A Lavillaureix, C Hyon, S Heide, S Clède, R Balet, E Kott, ... Reproductive BioMedicine Online 30 (3), 290-295, 2015 | 9 | 2015 |
| First birth after sperm selection through discontinuous gradient centrifugation and artificial insemination from a chromosomal translocation carrier A Rouen, C Hyon, R Balet, N Joyé, NG Cassuto, JP Siffroi Case Reports in Genetics 2014 (1), 906145, 2014 | 7 | 2014 |
| Référentiel de la Société francophone du diabète (SFD): vaccination chez la personne diabétique A Sultan, B Bauduceau, G de travail de la Société, S Baron, S Brunot, ... Médecine Des Maladies Métaboliques 14 (1), 46-57, 2020 | 6 | 2020 |
| Recurrent intragenic duplication within the NR5A1 gene and severe proximal hypospadias M Peycelon, L Mansour-Hendili, C Hyon, N Collot, M Houang, ... Sexual Development 11 (5-6), 293-297, 2018 | 6 | 2018 |
| Are human male patients with DAX1/NR0B1 mutations infertile? C Ravel, C Hyon, JP Siffroi, S Christin-Maitre Annales d'endocrinologie 75 (2), 126-127, 2014 | 6 | 2014 |
