| Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing P Kuentz, J St-Onge, Y Duffourd, JB Courcet, V Carmignac, T Jouan, ... Genetics in medicine 19 (9), 989-997, 2017 | 110 | 2017 |
| Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11 A Goldenberg, F Riccardi, A Tessier, R Pfundt, T Busa, P Cacciagli, ... American Journal of Medical Genetics Part A 170 (11), 2847-2859, 2016 | 82 | 2016 |
| Vitamin D–Dependent Rickets Type 1B (25‐Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition? A Molin, A Wiedemann, N Demers, M Kaufmann, J Do Cao, L Mainard, ... Journal of Bone and Mineral Research 32 (9), 1893-1899, 2017 | 72 | 2017 |
| NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients M Bertacchi, AL Romano, A Loubat, F Tran Mau‐Them, M Willems, ... The EMBO journal 39 (13), e104163, 2020 | 52 | 2020 |
| Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature M Agopiantz, P Corbonnois, A Sorlin, C Bonnet, M Klein, N Hubert, ... Journal of endocrinological investigation 37, 1-7, 2014 | 41 | 2014 |
| De novo variants in CNOT1, a central component of the CCR4-NOT complex involved in gene expression and RNA and protein stability, cause neurodevelopmental delay LELM Vissers, S Kalvakuri, E de Boer, S Geuer, M Oud, I van Outersterp, ... The American Journal of Human Genetics 107 (1), 164-172, 2020 | 39 | 2020 |
| Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature V Carmignac, S Nambot, D Lehalle, P Callier, S Moortgat, V Benoit, ... Clinical Genetics 98 (1), 43-55, 2020 | 36 | 2020 |
| Reverse phenotyping in patients with skin capillary malformations and mosaic GNAQ or GNA11 mutations defines a clinical spectrum with genotype-phenotype correlation M Jordan, V Carmignac, A Sorlin, P Kuentz, J Albuisson, L Borradori, ... Journal of Investigative Dermatology 140 (5), 1106-1110. e2, 2020 | 34 | 2020 |
| Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism HG Kim, JA Rosenfeld, DA Scott, G Bénédicte, JD Labonne, J Brown, ... Molecular autism 10, 1-15, 2019 | 34 | 2019 |
| TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development GM van Woerden, M Bos, C de Konink, B Distel, R Avagliano Trezza, ... Human mutation 42 (4), 445-459, 2021 | 28 | 2021 |
| Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome P Vabres, A Sorlin, SS Kholmanskikh, B Demeer, J St-Onge, Y Duffourd, ... Nature genetics 51 (10), 1438-1441, 2019 | 26 | 2019 |
| Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants F Lecoquierre, Y Duffourd, A Vitobello, AL Bruel, B Urteaga, C Coubes, ... Genetics in Medicine 21 (11), 2504-2511, 2019 | 25 | 2019 |
| Next‐generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability AL Bruel, A Vitobello, F Tran Mau‐Them, S Nambot, A Sorlin, ... Clinical genetics 98 (5), 433-444, 2020 | 23 | 2020 |
| McCune–Albright syndrome, natural history and multidisciplinary management in a series of 14 pediatric cases M Agopiantz, P Journeau, B Lebon-Labich, A Sorlin, T Cuny, G Weryha, ... Annales d'Endocrinologie 77 (1), 7-13, 2016 | 23 | 2016 |
| Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests C Thauvin-Robinet, J Thevenon, S Nambot, J Delanne, P Kuentz, ... European Journal of Human Genetics, 1, 2019 | 22 | 2019 |
| Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications A Foster, B Chalot, T Antoniadi, E Schaefer, R Keelagher, G Ryan, ... Clinical Genetics 98 (1), 19-31, 2020 | 20 | 2020 |
| Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy I Parenti, D Lehalle, C Nava, E Torti, E Leitão, R Person, T Mizuguchi, ... Human genetics 140 (7), 1109-1120, 2021 | 19 | 2021 |
| Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes G Delplancq, G Tarris, A Vitobello, S Nambot, A Sorlin, C Philippe, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2020 | 19 | 2020 |
| Mosaicism for a KITLG mutation in linear and whorled nevoid hypermelanosis A Sorlin, A Maruani, MH Aubriot-Lorton, P Kuentz, Y Duffourd, S Teysseire, ... The Journal of investigative dermatology 137 (7), 1575-1578, 2017 | 19 | 2017 |
| Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities V Carmignac, C Mignot, E Blanchard, P Kuentz, MH Aubriot-Lorton, ... Genetics in Medicine 23 (8), 1484-1491, 2021 | 18 | 2021 |
