Defining the transcriptome of PIK3CA-altered cells in a human capillary malformation using single cell long-read sequencing.

Autor: Wedemeyer, Michelle A., Ding, Tianli, Garfinkle, Elizabeth A. R., Westfall, Jesse J., Navarro, Jaye B., Hernandez Gonzalez, Maria Elena, Varga, Elizabeth A., Witman, Patricia, Mardis, Elaine R., Cottrell, Catherine E., Miller, Anthony R., Miller, Katherine E.

Publikováno v: Scientific Reports; 10/25/2024, Vol. 14 Issue 1, p1-10, 10p

Additional file 1 of Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma

Autor: Schieffer, Kathleen M., Feldman, Alexander Z., Kautto, Esko A., McGrath, Sean, Miller, Anthony R., Hernandez-Gonzalez, Maria Elena, LaHaye, Stephanie, Miller, Katherine E., Koboldt, Daniel C., Brennan, Patrick, Kelly, Benjamin, Wetzel, Amy, Vibhuti Agarwal, Shatara, Margaret, Conley, Suzanne, Rodriguez, Diana P., Rolla Abu-Arja, Shaikhkhalil, Ala, Snuderl, Matija, Orr, Brent A., Finlay, Jonathan L., Osorio, Diana S., Drapeau, Annie I., Leonard, Jeffrey R., Pierson, Christopher R., White, Peter, Magrini, Vincent, Mardis, Elaine R., Wilson, Richard K., Cottrell, Catherine E., Boué, Daniel R.

Additional file 1 Supplementary methods and data.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44c3b0711a33e22eb7539a5d69bff95d

Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.

Autor: Melas, Marilena, Kautto, Esko A., Franklin, Samuel J., Mori, Mari, McBride, Kim L., Mosher, Theresa Mihalic, Pfau, Ruthann B., Hernandez‐Gonzalez, Maria Elena, McGrath, Sean D., Magrini, Vincent J., White, Peter, Samora, Julie Balch, Koboldt, Daniel C., Wilson, Richard K.

Publikováno v: Human Mutation; Feb2022, Vol. 43 Issue 2, p189-199, 11p

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eP061 - Expanding the phenotypic spectrum of internal tandem duplications in somatic disease.

Autor: Schieffer, Kathleen (AUTHOR), Miller, Anthony (AUTHOR), Hernandez-Gonzalez, Maria Elena (AUTHOR), McGrath, Sean (AUTHOR), Stonerock, Eileen (AUTHOR), Choi, Samantha (AUTHOR), Leraas, Kristen (AUTHOR), Jalkanen, Aimee (AUTHOR), Fitch, James (AUTHOR), LaHaye, Stephanie (AUTHOR), Kelly, Benjamin (AUTHOR), Koboldt, Daniel (AUTHOR), Koo, Selene (AUTHOR), Savage, Sarah (AUTHOR), Kaler, Stephen (AUTHOR), Leonard, Jeffrey (AUTHOR), Pearson, Gregory (AUTHOR), Faith, Esteban Fernandez (AUTHOR), Conces, Miriam (AUTHOR), Shukri, Amal (AUTHOR)

Publikováno v: Molecular Genetics & Metabolism. 2021 Supplement 1, Vol. 132, pS44-S44. 1p.