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Institute of Human Genetics
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top-articles
Institute of Human Genetics
15
(top 5%)
papers
525
(top 2%)
citations
11
(top 2%)
h
-index
15
(top 2%)
g
-index
16
all documents
578
doc citations
267
citing journals
Top Articles
#
Title
Journal
Year
Citations
1
Point Mutations in Human GLI3 Cause Greig Syndrome
Human Molecular Genetics
1997
163
2
Mutation and phenotypic spectrum in patients with cardio‐facio‐cutaneous and Costello syndrome
Clinical Genetics
2008
94
3
Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting
BRCA1/2
mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium
Journal of Medical Genetics
2013
88
4
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
American Journal of Human Genetics
2017
56
5
Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome
American Journal of Human Genetics
2014
37
6
Reduced migration of MLH1 deficient colon cancer cells depends on SPTAN1
Molecular Cancer
2014
27
7
SHORT syndrome
Clinical Dysmorphology
2003
26
8
BRCA1/2
testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families
Clinical Genetics
2012
16
9
Moral concern over cryopreserved human embryos: too much or too little?
Human Reproduction
1997
14
10
Teebi hypertelorism syndrome
Clinical Dysmorphology
2003
14
11
First trimester diagnosis of Pompe's disease (glycogenosis type II) with normal outcome: assay of acid α-glucosidase in chorionic villous biopsy using antibodies
Clinical Genetics
2008
12
12
XXY SON OF A XX/XXX MOTHER
Lancet, The
1972
8
13
Phenylketonuria in turkey: Experience with an enzymatic colorimetric test for measurement of serum phenylalanine
Journal of Inherited Metabolic Disease
1990
4
14
Novel N‐terminal truncating
CLCN1
mutation in severe becker disease
Muscle and Nerve
2014
4
15
Description of a novel
c.374 G>A
mutation in becker disease
Muscle and Nerve
2013
0
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