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exaly
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Department of Medical Genetics
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top-articles
Department of Medical Genetics
11
(top 5%)
papers
456
(top 2%)
citations
9
(top 2%)
h
-index
12
(top 5%)
g
-index
13
all documents
534
doc citations
255
citing journals
Top Articles
#
Title
Journal
Year
Citations
1
Mutation Update for Kabuki Syndrome Genes
KMT2D
and
KDM6A
and Further Delineation of X-Linked Kabuki Syndrome Subtype 2
Human Mutation
2016
134
2
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes
Journal of Medical Genetics
2012
104
3
Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients
Clinical Genetics
2019
87
4
The phenotype of Floating–Harbor syndrome in 10 patients
American Journal of Medical Genetics, Part A
2010
43
5
Natural History of Adult Patients with GM2 Gangliosidosis
Annals of Neurology
2020
40
6
Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome
Archives of Disease in Childhood
2015
34
7
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias
Human Mutation
2016
33
8
Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial
Lancet Neurology, The
2022
24
9
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients
Bone Marrow Transplantation
2023
5
10
Reasons Charcot–Marie–Tooth disease due to mutations in the
MME
gene should not be named AR‐CMT2T
Annals of Neurology
2016
4
11
The value of electrocardiography and echocardiography in distinguishing Fabry disease from sarcomeric hypertrophic cardiomyopathy
Archives of Cardiovascular Diseases
2020
4
12
The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing
Journal of Clinical Endocrinology and Metabolism
0
0
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