| LEF1 haploinsufficiency causes ectodermal dysplasia J Lévy, Y Capri, M Rachid, C Dupont, JR Vermeesch, K Devriendt, ... Clinical Genetics 97 (4), 595-600, 2020 | 15 | 2020 |
| Roles of type 1 insulin-like growth factor (IGF) receptor and IGF-II in growth regulation: evidence from a patient carrying both an 11p paternal duplication and 15q deletion E Giabicani, S Chantot-Bastaraud, A Bonnard, M Rachid, S Whalen, ... Frontiers in Endocrinology 10, 263, 2019 | 15 | 2019 |
| Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder J Lévy, G Cogan, A Maruani, A Maillard, C Dupont, S Drunat, M Rachid, ... Clinical Genetics 101 (3), 364-370, 2022 | 8 | 2022 |
| Pitfalls in molecular diagnosis of Friedreich ataxia G Barcia, M Rachid, M Magen, Z Assouline, M Koenig, B Funalot, ... European journal of medical genetics 61 (8), 455-458, 2018 | 8 | 2018 |
| Association of maternal first trimester serum levels of free beta human chorionic gonadotropin and hypospadias: a population based study M Peycelon, N Lelong, L Carlier, MF Monn, A De Chalus, A Bonnard, ... The Journal of Urology 203 (5), 1017-1023, 2020 | 6 | 2020 |
| Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone ML Rachid, S Dreux, G Pean de Ponfilly, R Vargas‐Poussou, ... Prenatal Diagnosis 36 (1), 88-91, 2016 | 6 | 2016 |
| EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder J Lévy, B Schell, H Nasser, M Rachid, L Ruaud, N Couque, P Callier, ... Clinical Genetics 100 (4), 396-404, 2021 | 4 | 2021 |
| Fetal urine biochemistry in antenatal Bartter syndrome: a case report ML Rachid, S Dreux, I Czerkiewicz, G Deschênes, R Vargas‐Poussou, ... Clinical Case Reports 4 (9), 876, 2016 | 4 | 2016 |
| Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone M Rachid, S Dreux, GP de Ponfilly, R Vargas-Poussou, I Czerkiewicz, ... Annales de Biologie Clinique 75 (2), 204-208, 2017 | 1 | 2017 |
| Expanding the phenotype of GTF2E2-associated trichothiodystrophy B Sperelakis-Beedham, L Ruaud, Y Vial, M Rachid, F Ageorges, L Goujon, ... Journal of the European Academy of Dermatology and Venereology: JEADV 38 (3 …, 2024 | | 2024 |
| Novel homozygous missense variant in GTF2E2 causes non-photosensitive trichothiodystrophy type 6 BS Beedham, L Ruaud, Y Vial, M Rachid, L Goujon, A Verloes, AC Tabet, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 141-142, 2024 | | 2024 |
| 10q26 deletion syndrome: a French cohort study H Thorn, S Odent, J Levy, AC Tabet, J Thevenon, C Le Caignec, ... 54th European Society of Human Genetics (ESHG) Conference 30 (SUPPL 1), 323-324, 2022 | | 2022 |
| Epha7 haploinsufficiency is associated with neurodevelopmental delay J Levy, C Dupont, H Nasser, E Yvon-Chaou, M Rachid, M Lopez, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1386-1387, 2019 | | 2019 |
| A ring 22 resulted from an atypical inv dup del 22 lessons from SNP array analysis M Rachid, J Levy, D Haye, S Passemard, H Nasser, A Maruani, ... MOLECULAR CYTOGENETICS 12, 2019 | | 2019 |
| Six years of molecular cytogenetic in prenatal diagnosis benefits lessons and perspectives. A new approach according to ultrasound abnormalities observation M Rachid, J Rosenblatt, J Levy, A Marc, MA Thaly, C Le Long, ... MOLECULAR CYTOGENETICS 12, 2019 | | 2019 |
| Prenatal diagnosis of fragile X syndrome: Small meiotic recombination events at the FMR1 locus S Bacrot, S Monnot, G Haddad, G Barcia, M Rachid, M Boisson, ... Prenatal Diagnosis 39 (5), 388-393, 2019 | | 2019 |
| ISPD 2018 MEETING ARTICLES D Prayer, D Paladini, J Deprest, P Benn, SE Plon, DW Bianchi, D Wells, ... | | 2019 |
| Six ans de cytogénétique moléculaire en diagnostic prénatal: bénéfices, leçons, et perspectives M Rachid | | 2018 |
| Aldostérone amniotique et diagnostic prénatal du syndrome de Bartter M Rachid, S Dreux, GP de Ponfilly, R Vargas-Poussou, I Czerkiewicz, ... Annales de Biologie Clinique 75 (2), 204-208, 2017 | | 2017 |
| Shankopathies from Mechanisms to Treatments E Ey, R Delorme, C Leblond, F Cliquet, AT FERHAT, F de Chaumont, ... INSAR 2020 Virtual Meeting, 0 | | |
