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Institute of Clinical Medicine
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top-articles
Institute of Clinical Medicine
18
(top 2%)
papers
1.0K
(top 2%)
citations
12
(top 2%)
h
-index
16
(top 2%)
g
-index
30
all documents
1.2K
doc citations
467
citing journals
Top Articles
#
Title
Journal
Year
Citations
1
Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
Nature Reviews Endocrinology
2018
388
2
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
American Journal of Human Genetics
2017
337
3
The natural history of classic galactosemia: lessons from the GalNet registry
Orphanet Journal of Rare Diseases
2019
84
4
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
American Journal of Human Genetics
2018
51
5
A mechanistic framework for cardiometabolic and coronary artery diseases
American Journal of Human Genetics
2022
51
6
Fertility in adult women with classic galactosemia and primary ovarian insufficiency
Fertility and Sterility
2017
42
7
Can untreated PKU patients escape from intellectual disability? A systematic review
Orphanet Journal of Rare Diseases
2018
36
8
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism
American Journal of Human Genetics
2019
32
9
Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology
Molecular Syndromology
2016
30
10
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
Nature Genetics
2018
28
11
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature
European Journal of Human Genetics
2020
27
12
POLRMT mutations impair mitochondrial transcription causing neurological disease
Nature Communications
2021
21
13
European Headache Federation (EHF) consensus on the definition of effective treatment of a migraine attack and of triptan failure
Journal of Headache and Pain
2022
20
14
COVID‐19 vaccination hesitancy among people with chronic neurological disorders: A position paper
European Journal of Neurology
2022
13
15
Integrative Prioritization of Causal Genes for Coronary Artery Disease
Circulation Genomic and Precision Medicine
2022
11
16
Adherence to osteoporosis medicines in Estonia—a comprehensive 15-year retrospective prescriptions database study
Archives of Osteoporosis
2017
7
17
Maternal Pyelonephritis as a Potential Cause of Perinatal Periventricular Venous Infarction in Term-Born Children
Journal of Child Neurology
2022
3
18
Food choices, physical activity and metabolic health in obese patients
Papers on Anthropology
2019
0
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