List of works - Gemma Buck

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

scientific article published on 24 March 2017

A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy

scientific article

A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer

scientific article published on 22 May 2005

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

scientific article

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

scientific article published on 23 January 2018

Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk

scientific article

Genome-wide copy number variation analysis in extended families and unrelated individuals characterized for musical aptitude and creativity in music

scientific article

Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus

scientific article

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

scientific article

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

scientific article

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus

scientific article

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly

scientific article

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

scientific article

Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults

scientific article

Signatures of mutation and selection in the cancer genome

scientific article

Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer

scientific article

Somatic mutations of the protein kinase gene family in human lung cancer

scientific article published on September 2005

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes

scientific article

The genetic architecture of type 2 diabetes

scientific article (publication date: 11 July 2016)

The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population

scientific article

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

scientific article

List of works by Gemma Buck

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy

A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk

Genome-wide copy number variation analysis in extended families and unrelated individuals characterized for musical aptitude and creativity in music

Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults

Signatures of mutation and selection in the cancer genome

Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer

Somatic mutations of the protein kinase gene family in human lung cancer

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes

The genetic architecture of type 2 diabetes

The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment