Fingerprint The fingerprint is based on mining the text of the scientific documents related to the associated persons. Based on that an index of weighted terms is created, which defines the key subjects of research unit

Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Genome Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Proteins Medicine & Life Sciences
Alleles Medicine & Life Sciences
Neoplasms Medicine & Life Sciences
DNA Medicine & Life Sciences

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Profiles

No photo of Anthony Antonellis

Anthony Antonellis

Person: Academic

19982021
No photo of Martin F Arlt

Martin F Arlt

Person: Academic

19962018
No photo of Stephanie Bielas

Stephanie Bielas

Person: Academic

20042022

Grants 1986 2031

Research Output 1961 2018

A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome

Hebbar, M., Kanthi, A., Shukla, A., Bielas, S. & Girisha, K. M. Apr 25 2018 (Accepted/In press) In : Journal of Human Genetics. p. 1-5 5 p.

Research output: Contribution to journalArticle

Cystic Kidney Diseases
Exome
Muscle Hypotonia
Corpus Callosum
Medical Genetics

A Common Type 2 Diabetes Risk Variant Potentiates Activity of an Evolutionarily Conserved Islet Stretch Enhancer and Increases C2CD4A and C2CD4B Expression

Kycia, I. , Wolford, B. N. , Huyghe, J. R. , Fuchsberger, C. , Vadlamudi, S. , Kursawe, R. , Welch, R. P. , Albanus, R. D. O. , Uyar, A. , Khetan, S. , Lawlor, N. , Bolisetty, M. , Mathur, A. , Kuusisto, J. , Laakso, M. , Ucar, D. , Mohlke, K. L. , Boehnke, M. , Collins, F. S. , Parker, S. C. J. & 1 others Stitzel, M. L. Apr 5 2018 In : American journal of human genetics. 102, 4, p. 620-635 16 p.

Research output: Contribution to journalArticle

Type 2 Diabetes Mellitus
Alleles
Proinsulin
Genome-Wide Association Study
Nuclear Proteins

A genome-wide assessment of conserved SNP alleles reveals a panel of regulatory SNPs relevant to the peripheral nerve

Law, W. D., Fogarty, E. A., Vester, A. & Antonellis, A. May 2 2018 In : BMC genomics. 19, 1, 311

Research output: Contribution to journalArticle

Peripheral Nerves
Single Nucleotide Polymorphism
Alleles
Genome
Schwann Cells