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citing journals

Top Articles

#TitleJournalYearCitations
1Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2Human Mutation2016134
2Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström SyndromesJournal of Medical Genetics2012104
3Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patientsClinical Genetics201987
4The phenotype of Floating–Harbor syndrome in 10 patientsAmerican Journal of Medical Genetics, Part A201043
5Natural History of Adult Patients with GM2 GangliosidosisAnnals of Neurology202040
6Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndromeArchives of Disease in Childhood201534
7Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited AtaxiasHuman Mutation201633
8Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trialLancet Neurology, The202224
9Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patientsBone Marrow Transplantation20235
10Reasons Charcot–Marie–Tooth disease due to mutations in the MME gene should not be named AR‐CMT2TAnnals of Neurology20164
11The value of electrocardiography and echocardiography in distinguishing Fabry disease from sarcomeric hypertrophic cardiomyopathyArchives of Cardiovascular Diseases20204
12The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation SequencingJournal of Clinical Endocrinology and Metabolism00