15(top 5%)
papers
525(top 2%)
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11(top 2%)
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15(top 2%)
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16
all documents
578
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267
citing journals

Top Articles

#TitleJournalYearCitations
1Point Mutations in Human GLI3 Cause Greig SyndromeHuman Molecular Genetics1997163
2Mutation and phenotypic spectrum in patients with cardio‐facio‐cutaneous and Costello syndromeClinical Genetics200894
3Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predictingBRCA1/2mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer ConsortiumJournal of Medical Genetics201388
4De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial DysfunctionAmerican Journal of Human Genetics201756
5Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke SyndromeAmerican Journal of Human Genetics201437
6Reduced migration of MLH1 deficient colon cancer cells depends on SPTAN1Molecular Cancer201427
7SHORT syndromeClinical Dysmorphology200326
8BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative familiesClinical Genetics201216
9Moral concern over cryopreserved human embryos: too much or too little?Human Reproduction199714
10Teebi hypertelorism syndromeClinical Dysmorphology200314
11First trimester diagnosis of Pompe's disease (glycogenosis type II) with normal outcome: assay of acid α-glucosidase in chorionic villous biopsy using antibodiesClinical Genetics200812
12XXY SON OF A XX/XXX MOTHERLancet, The19728
13Phenylketonuria in turkey: Experience with an enzymatic colorimetric test for measurement of serum phenylalanineJournal of Inherited Metabolic Disease19904
14Novel N‐terminal truncating CLCN1 mutation in severe becker diseaseMuscle and Nerve20144
15Description of a novel c.374 G>A mutation in becker diseaseMuscle and Nerve20130