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Novel RAI1 :c.2736delC Variant in Smith–Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis.
Published in:
Journal of Personalized Medicine, 2024, v. 14, n. 9, p. 901, doi. 10.3390/jpm14090901
By:
- Cuk, Mario;
- Unal, Busra;
- Jandric, Nives;
- Hayes, Connor P.;
- Walker, McKenzie;
- Abraamyan, Feruza;
- Gornik, Kristina Crkvenac;
- Ghazani, Arezou A.
Publication type:
Article
Development and evaluation of INT2GRATE: a platform for comprehensive assessment of the role of germline variants informed by tumor signature profile in Lynch syndrome.
Published in:
Frontiers in Oncology, 2024, p. 1, doi. 10.3389/fonc.2023.1284690
By:
- Isidro, Raymond A.;
- Chittenden, Anu;
- Walker, McKenzie;
- Schwartz, Alison;
- Koeller, Diane R.;
- Hayes, Connor P.;
- Unal, Busra;
- Manam, Monica Devi;
- Buehler, Ryan M.;
- Manning, Danielle K.;
- Sholl, Lynette M.;
- Redston, Mark S.;
- Yurgelun, Matthew B.;
- Rana, Huma Q.;
- Garber, Judy E.;
- Ghazani, Arezou A.
Publication type:
Article
Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes.
Published in:
Cancers, 2024, v. 16, n. 5, p. 947, doi. 10.3390/cancers16050947
By:
- Rana, Huma Q.;
- Koeller, Diane R.;
- Walker, McKenzie;
- Unal, Busra;
- Levine, Alison Schwartz;
- Chittenden, Anu;
- Isidro, Raymond A.;
- Hayes, Connor P.;
- Manam, Monica D.;
- Buehler, Ryan M.;
- Manning, Danielle K.;
- Barletta, Justine A.;
- Hornick, Jason L.;
- Garber, Judy E.;
- Ghazani, Arezou A.
Publication type:
Article
Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients.
Published in:
Cancer Medicine, 2024, v. 13, n. 3, p. 1, doi. 10.1002/cam4.6852
By:
- Agaoglu, Nihat B.;
- Unal, Busra;
- Hayes, Connor P.;
- Walker, McKenzie;
- Ng, Ozden Hatirnaz;
- Doganay, Levent;
- Can, Nisan D.;
- Rana, Huma Q.;
- Ghazani, Arezou A.
Publication type:
Article
Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping.
Published in:
Genes, 2024, v. 15, n. 7, p. 946, doi. 10.3390/genes15070946
By:
- Cuk, Mario;
- Unal, Busra;
- Bevanda, Andjela;
- Hayes, Connor P.;
- Walker, McKenzie;
- Abraamyan, Feruza;
- Beluzic, Robert;
- Gornik, Kristina Crkvenac;
- Ozretic, David;
- Prutki, Maja;
- Nie, Qian;
- Reddi, Honey V.;
- Ghazani, Arezou A.
Publication type:
Article

Found: 5

Novel RAI1 :c.2736delC Variant in Smith–Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis.

Development and evaluation of INT2GRATE: a platform for comprehensive assessment of the role of germline variants informed by tumor signature profile in Lynch syndrome.

Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes.

Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients.

Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping.