DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

Authors: Choufani, Sanaa, Gibson, William T., Turinsky, Andrei L., Chung, Brian H.Y., Wang, Tianren, Garg, Kopal, Vitriolo, Alessandro, Cohen, Ana S.A., Cyrus, Sharri, Goodman, Sarah, Chater-Diehl, Eric, Brzezinski, Jack, Brudno, Michael, Ming, Luk Ho, White, Susan M., Lynch, Sally Ann, Clericuzio, Carol, Temple, I. Karen, Flinter, Frances, McConnell, Vivienne, Cushing, Tom, Bird, Lynne M., Splitt, Miranda, Kerr, Bronwyn, Scherer, Stephen W., Machado, Jerry, Imagawa, Eri, Okamoto, Nobuhiko, Matsumoto, Naomichi, Testa, Guiseppe, Iascone, Maria, Tenconi, Romano, Caluseriu, Oana, Mendoza-Londono, Roberto, Chitayat, David, Cytrynbaum, Cheryl, Tatton-Brown, Katrina, Weksberg, Rosanna

Source: In The American Journal of Human Genetics 7 May 2020 106(5):596-610

Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization

Authors: Eno, Celeste, Bayrak-Toydemir, Pinar, Bean, Lora, Braxton, Alicia, Chao, Elizabeth C., El-Khechen, Dima, Esplin, Edward D., Friedman, Bethany, Hagman, Kelly D. Farwell, Hambuch, Tina, Hernandez, Amy, Juusola, Jane, Londre, Gina, Machado, Jerry, Mao, Rong, Mighion, Lindsey, Rehm, Heidi L., Ward, Patricia, Deignan, Joshua L.

Source: In Genetics in Medicine April 2019 21(4):861-866

Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease

Authors: Albanyan, Saleh, Giles, Rachel H., Gimeno, Enric Mocholi, Silver, Josh, Murphy, Jillian, Faghfoury, Hanna, Morel, Chantal F., Machado, Jerry, Kim, Raymond H.

Source: In European Journal of Medical Genetics March 2019 62(3):177-181

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

Authors: Butcher, Darci T., Cytrynbaum, Cheryl, Turinsky, Andrei L., Siu, Michelle T., Inbar-Feigenberg, Michal, Mendoza-Londono, Roberto, Chitayat, David, Walker, Susan, Machado, Jerry, Caluseriu, Oana, Dupuis, Lucie, Grafodatskaya, Daria, Reardon, William, Gilbert-Dussardier, Brigitte, Verloes, Alain, Bilan, Frederic, Milunsky, Jeff M., Basran, Raveen, Papsin, Blake, Stockley, Tracy L., Scherer, Stephen W., Choufani, Sanaa, Brudno, Michael, Weksberg, Rosanna

Source: In The American Journal of Human Genetics 4 May 2017 100(5):773-788

P708: Clinical laboratory quality system enhancement addressing acquired loss of chromosome Y

Authors: Cox, Hannah, Schultz, Connie, Machado, Jerry

Source: In Genetics in Medicine Open 2024 2 Supplement 1

P103: Operationalizing structured curated scientific literature (CIViC and Hypothesis) in developing gene-specific recommendations of the ClinGen VHL Variant Curation Expert Panel

Authors: Ritter, Deborah, Badduke, Chansonette, Anderson, Michael, Danos, Arpad, Doonanco, Kurston, Farncombe, Kirsten, Gallinger, Bailey, Giles, Rachel, Griffith, Malachi, Griffith, Obi, Horton, Carolyn, Hruska, Kathleen, Kang, Hio Chung, Krysiak, Kilannin, Luo, Minjie, Machado, Jerry, Maher, Eamonn, McGoldrick, Kelly, Pesaran, Tina, Pipko, Neta, Ridd, Sarah, Saliba, Jason, Sheen, Clare, Kim, Raymond

Source: In Genetics in Medicine Open 2024 2 Supplement 1

A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma

Authors: Ahmad, Saba, Manon, Luis, Bhat, Gifty, Machado, Jerry, Zalan, Alice, Mata-Machado, Nikolas, Garzon, Steven, Yoshii, Akira

Source: Human genome variation. 7(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100191092237.0x000001&indx=1&recIds=ETOCvdc_100191092237.0x000001

Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.

Authors: Hatton, Jessica N., Frone, Megan N., Cox, Hannah C., Crowley, Stephanie B., Hiraki, Susan, Yokoyama, Noriko N., Abul-Husn, Noura S., Amatruda, James F., Anderson, Michael J., Bofill-De Ros, Xavier, Carr, Ann G., Chao, Elizabeth C., Chen, Kenneth S., Gu, Shuo, Higgs, Cecilia, Machado, Jerry, Ritter, Deborah, Schultz, Kris Ann P., Soper, Emily R., Wu, Mona K.

Source: Human Mutation; 3/29/2023, p1-15, 15p

Programmed cell death 4 loss increases tumor cell invasion and is regulated by miR-21 in oral squamous cell carcinoma

Authors: Reis Patricia P, Tomenson Miranda, Cervigne Nilva K, Machado Jerry, Jurisica Igor, Pintilie Melania, Sukhai Mahadeo A, Perez-Ordonez Bayardo, Grénman Reidar, Gilbert Ralph W, Gullane Patrick J, Irish Jonathan C, Kamel-Reid Suzanne

Source: Molecular Cancer, Vol 9, Iss 1, p 238 (2010)

Subject Terms: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: http://www.molecular-cancer.com/content/9/1/238; https://doaj.org/toc/1476-4598

Access URL: https://doaj.org/article/fdd44c9e23204f75b4dde8e27d60c500

Optimization and analysis of a quantitative real-time PCR-based technique to determine microRNA expression in formalin-fixed paraffin-embedded samples

Authors: Reis Patricia P, Xu Wei, Cervigne Nilva K, Machado Jerry, Waldron Levi, Goswami Rashmi S, Bailey Denis J, Jurisica Igor, Crump Michael R, Kamel-Reid Suzanne

Source: BMC Biotechnology, Vol 10, Iss 1, p 47 (2010)

Subject Terms: Biotechnology, TP248.13-248.65

File Description: electronic resource

Relation: http://www.biomedcentral.com/1472-6750/10/47; https://doaj.org/toc/1472-6750

Access URL: https://doaj.org/article/07355e87ce2747b294aa9a6245fa3e70

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Optimization and analysis of a quantitativereal-time PCR-based technique to determinemicroRNA expression in formalin-fixedparaffin-embedded samples.

Authors: Goswami, Rashmi S., Waldron, Levi, Machado, Jerry, Cervigne, Nilva K., Wei Xu, Reis, Patricia P., Bailey, Denis J., Jurisica, Igor, Crump, Michael R., Kamel-Reid, Suzanne

Source: BMC Biotechnology; 2010, Vol. 10, p47-58, 12p

Subject Terms: RNA, TISSUES, CELL division, CRYOBIOLOGY, FORMALDEHYDE

Comparative genomic analysis of equilibrative nucleoside transporters suggests conserved protein structure despite limited sequence identity.

Authors: Sankar, Narendra, Machado, Jerry, Abdulla, Parween, Hilliker, Arthur J., Coe, Imogen R.

Source: Nucleic Acids Research; Oct2002, Vol. 30 Issue 20, p4339-4350, 12p

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