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Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing
Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing
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Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing

Diderich, Karin E M ; Klapwijk, Jasmijn E ; van der Schoot, Vyne ; Brüggenwirth, Hennie T ; Joosten, Marieke ; Srebniak, Malgorzata I

Application of clinical genetics, 2023-01, Vol.16, p.89-97 [Periódico revisado por pares]

New Zealand: Dove Medical Press Limited

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2
Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes
Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes
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Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes

Dragoš, Vita Šetrajčič ; Strojnik, Ksenija ; Klančar, Gašper ; Škerl, Petra ; Stegel, Vida ; Blatnik, Ana ; Banjac, Marta ; Krajc, Mateja ; Novaković, Srdjan

International journal of molecular sciences, 2022-07, Vol.23 (13), p.7446 [Periódico revisado por pares]

Basel: MDPI AG

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3
Opportunities and challenges of whole-genome and -exome sequencing
Opportunities and challenges of whole-genome and -exome sequencing
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Opportunities and challenges of whole-genome and -exome sequencing

Petersen, Britt-Sabina ; Fredrich, Broder ; Hoeppner, Marc P ; Ellinghaus, David ; Franke, Andre

BMC genetics, 2017-02, Vol.18 (1), p.14-14, Article 14 [Periódico revisado por pares]

England: BioMed Central Ltd

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4
Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks
Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks
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Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks

Brnich, Sarah E. ; Rivera‐Muñoz, Edgar A. ; Berg, Jonathan S.

Human mutation, 2018-11, Vol.39 (11), p.1531-1541 [Periódico revisado por pares]

United States: Hindawi Limited

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5
Molecular Modelling Hurdle in the Next-Generation Sequencing Era
Molecular Modelling Hurdle in the Next-Generation Sequencing Era
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Molecular Modelling Hurdle in the Next-Generation Sequencing Era

Fernandez, Guerau ; Yubero, Dèlia ; Palau, Francesc ; Armstrong, Judith

International journal of molecular sciences, 2022-06, Vol.23 (13), p.7176 [Periódico revisado por pares]

Basel: MDPI AG

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6
Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases
Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases
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Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases

Perrone, Federica ; Cacace, Rita ; van der Zee, Julie ; Van Broeckhoven, Christine

Genome medicine, 2021-04, Vol.13 (1), p.59-59, Article 59 [Periódico revisado por pares]

England: BioMed Central Ltd

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7
RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants
RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants
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RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants

Bueno-Martínez, Elena ; Sanoguera-Miralles, Lara ; Valenzuela-Palomo, Alberto ; Lorca, Víctor ; Gómez-Sanz, Alicia ; Carvalho, Sara ; Allen, Jamie ; Infante, Mar ; Pérez-Segura, Pedro ; Lázaro, Conxi ; Easton, Douglas F ; Devilee, Peter ; Vreeswijk, Maaike P G ; de la Hoya, Miguel ; Velasco, Eladio A

Cancers, 2021-06, Vol.13 (11), p.2845 [Periódico revisado por pares]

Switzerland: MDPI AG

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8
Tumor Testing and Genetic Analysis to Identify Lynch Syndrome Patients in an Italian Colorectal Cancer Cohort
Tumor Testing and Genetic Analysis to Identify Lynch Syndrome Patients in an Italian Colorectal Cancer Cohort
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Tumor Testing and Genetic Analysis to Identify Lynch Syndrome Patients in an Italian Colorectal Cancer Cohort

Pantaleo, Antonino ; Forte, Giovanna ; Cariola, Filomena ; Valentini, Anna Maria ; Fasano, Candida ; Sanese, Paola ; Grossi, Valentina ; Buonadonna, Antonia Lucia ; De Marco, Katia ; Lepore Signorile, Martina ; Guglielmi, Anna Filomena ; Manghisi, Andrea ; Gigante, Gianluigi ; Armentano, Raffaele ; Disciglio, Vittoria ; Simone, Cristiano

Cancers, 2023-10, Vol.15 (20), p.5061 [Periódico revisado por pares]

Basel: MDPI AG

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9
Germline variants of uncertain significance, their frequency, and clinico-pathological features in a cohort of Sri Lankan patients with hereditary breast cancer
Germline variants of uncertain significance, their frequency, and clinico-pathological features in a cohort of Sri Lankan patients with hereditary breast cancer
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Germline variants of uncertain significance, their frequency, and clinico-pathological features in a cohort of Sri Lankan patients with hereditary breast cancer

Gunawardena, Kawmadi ; Sirisena, Nirmala D ; Anandagoda, Gayani ; Neththikumara, Nilaksha ; Dissanayake, Vajira H W

BMC research notes, 2023-06, Vol.16 (1), p.95-95, Article 95 [Periódico revisado por pares]

England: BioMed Central Ltd

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10
Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes
Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes
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Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes

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 ; Int Grate Oncology Consortium

Cancers, 2024-02, Vol.16 (5), p.947 [Periódico revisado por pares]

Switzerland: MDPI AG

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