about
Initial sequencing and analysis of the human genomeCharacterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDHMutational heterogeneity in cancer and the search for new cancer-associated genesIntegrative analysis of the melanoma transcriptomeMelanoma genome sequencing reveals frequent PREX2 mutationsDiscovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencingExome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13The genomic complexity of primary human prostate cancerMutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesInitial genome sequencing and analysis of multiple myelomaSomatic mutations affect key pathways in lung adenocarcinomaCharacterizing the cancer genome in lung adenocarcinoma.Colon cancer-derived oncogenic EGFR G724S mutant identified by whole genome sequence analysis is dependent on asymmetric dimerization and sensitive to cetuximab.Integrative clinical genomics of advanced prostate cancer.Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas.Genomic Correlate of Exceptional Erlotinib Response in Head and Neck Squamous Cell Carcinoma.Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencingMutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencingExome sequencing, ANGPTL3 mutations, and familial combined hypolipidemiaThe somatic genomic landscape of glioblastomaHuman chromosome 11 DNA sequence and analysis including novel gene identificationAnalysis of the DNA sequence and duplication history of human chromosome 15Genetic mapping and exome sequencing identify variants associated with five novel diseasesGenomic and epigenomic landscapes of adult de novo acute myeloid leukemia.Whole-exome sequencing of circulating tumor cells provides a window into metastatic prostate cancer.Genetic and clonal dissection of murine small cell lung carcinoma progression by genome sequencing.Somatic retrotransposition in human cancer revealed by whole-genome and exome sequencing.Systematic identification of personal tumor-specific neoantigens in chronic lymphocytic leukemia.Subtype-specific genomic alterations define new targets for soft-tissue sarcoma therapy.Sequence analysis of mutations and translocations across breast cancer subtypesSomatic mutation as a mechanism of Wnt/β-catenin pathway activation in CLL.SF3B1 and other novel cancer genes in chronic lymphocytic leukemiaA homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples.Complementary genomic approaches highlight the PI3K/mTOR pathway as a common vulnerability in osteosarcomaLocally disordered methylation forms the basis of intratumor methylome variation in chronic lymphocytic leukemia.Whole-genome and multisector exome sequencing of primary and post-treatment glioblastoma reveals patterns of tumor evolutionExome sequencing can improve diagnosis and alter patient management.Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia.The functional spectrum of low-frequency coding variation
P50
Q21045365-0BD1B8D3-3118-46D0-A1E9-8AF07D372A82Q24297817-150E9DFC-8E71-433A-B3C5-E3827341C64DQ24606956-C485448E-A9E4-40E5-9EB5-0F6B8C6FE937Q24608060-02B5A594-15E8-4439-B1EF-9EFD53857412Q24610463-213D42D9-D868-41DC-9DAE-0C1130FA5292Q24612248-3B815A20-8BAD-4A1D-A689-79DB11DDCCB9Q24612956-34A2C282-260A-48CE-8868-C9885481E1A6Q24617949-506DC269-05D8-4330-94C2-FE47531B332FQ24625476-3681525A-0C15-4F0A-8A3C-0E3C540AECFDQ24629117-69954CAC-1D84-463F-9E9B-66480F69E043Q24648102-D75A4B90-6732-4BA7-B9C8-3AB176C95F60Q24649926-64B92463-0FDC-44E9-A14D-22A238D1B845Q27853014-226BFAA2-01A4-4C3F-96C0-C8C65BCEE23EQ27853170-839A38D0-E152-4DDA-B006-87EB1F010160Q27853175-7E75D073-41CE-460C-8BC0-815E0CA3A7B7Q27853189-D4FC5333-81ED-4297-8D84-335D83E7B02BQ28275103-25C9BE58-DD57-4A31-8CFC-DB61838B22DBQ28285241-8D716BB3-9FF5-4A6E-95B1-7B18AFC9EAE7Q28295479-58065E61-DA4F-4228-8B0F-94DED8D23480Q28300185-8DB7ADEC-39FC-4B9F-82A2-55BE80E3D302Q28303325-1E86DAB4-4315-4AFA-8AF3-BD2B3EFBC75FQ28304429-B4ED5ED5-7D19-48DE-891A-DDFCA42A9B04Q28478905-84499F10-EF14-4D59-B2A6-5A1B166D7D33Q29615735-51C146DE-7306-448F-B76D-7E455B09EF75Q33667666-3D7DA34A-48A8-43C5-8D5C-38817F68DEAFQ33693912-D141B9E0-C319-46FF-AB1C-5FC0C0768CE7Q33839390-4896D344-D900-4D0B-91D4-737D5B3EB66FQ33917224-C7EFAB89-692D-4532-98B6-E287D4E7CC7CQ34026081-BE362765-EFF8-45DA-B0D2-3D5DDE2CDAC4Q34032470-D42C72B0-70D7-4AEA-B620-B430502B5A54Q34047852-86AD4E54-9080-4D16-B2D3-0F739DAC3478Q34093678-30437AC9-D5FA-4277-B66C-513F50129359Q34306101-1987F4B6-4431-4F53-AF3A-7D6FD12723F2Q34327021-2D93BF3E-89E8-46AD-9F1D-829AB4A3A807Q34793401-EDB47265-DA70-4950-AE56-0BAAF610D47CQ34997508-B6331A9B-781C-413B-B228-90C1241B8AA8Q35157212-8A2981B6-E33E-439B-AF4D-3C48C8563A5FQ35641969-F0B090E2-BCED-49C0-8168-9B129634527FQ35836818-00125041-315C-49D0-9CC6-1C44D669F63CQ35840674-A0B84564-2370-47C9-BF6D-44E9656BB0AE
P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Carrie Sougnez
@af
Carrie Sougnez
@an
Carrie Sougnez
@ast
Carrie Sougnez
@bar
Carrie Sougnez
@bm
Carrie Sougnez
@br
Carrie Sougnez
@ca
Carrie Sougnez
@co
Carrie Sougnez
@cs
Carrie Sougnez
@cy
type
label
Carrie Sougnez
@af
Carrie Sougnez
@an
Carrie Sougnez
@ast
Carrie Sougnez
@bar
Carrie Sougnez
@bm
Carrie Sougnez
@br
Carrie Sougnez
@ca
Carrie Sougnez
@co
Carrie Sougnez
@cs
Carrie Sougnez
@cy
prefLabel
Carrie Sougnez
@af
Carrie Sougnez
@an
Carrie Sougnez
@ast
Carrie Sougnez
@bar
Carrie Sougnez
@bm
Carrie Sougnez
@br
Carrie Sougnez
@ca
Carrie Sougnez
@co
Carrie Sougnez
@cs
Carrie Sougnez
@cy