Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction
Abreu, Nicolas J., Siemon, Amy E., Baylis, Adriane L., Kirschner, Richard E., Pfau, Ruthann B., Ho, Mai‐Lan, Hickey, Scott E., Truxal, Kristen V.
Published in Clinical case reports (01.02.2022)
Published in Clinical case reports (01.02.2022)
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Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome
Hickey, Scott E., Walters-Sen, Lauren, Mosher, Theresa Mihalic, Pfau, Ruthann B., Pyatt, Robert, Snyder, Pamela J., Sotos, Juan F., Prior, Thomas W.
Published in American journal of medical genetics. Part A (01.09.2013)
Published in American journal of medical genetics. Part A (01.09.2013)
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Journal Article
EGFR internal tandem duplications in fusion‐negative congenital and neonatal spindle cell tumors
Koo, Selene C., Schieffer, Kathleen M., Lee, Kristy, Gupta, Ajay, Pfau, Ruthann B., Avenarius, Matthew R., Stonerock, Eileen, LaHaye, Stephanie, Fitch, James, Setty, Bhuvana A., Roberts, Ryan, Ranalli, Mark, Conces, Miriam R., Bu, Fang, Mardis, Elaine R., Cottrell, Catherine E.
Published in Genes chromosomes & cancer (01.01.2023)
Published in Genes chromosomes & cancer (01.01.2023)
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Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly
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.
Published in Human mutation (01.02.2022)
Published in Human mutation (01.02.2022)
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Genetic Characterization of Pediatric Sarcomas by Targeted RNA Sequencing
Avenarius, Matthew R., Miller, Cecelia R., Arnold, Michael A., Koo, Selene, Roberts, Ryan, Hobby, Martin, Grossman, Thomas, Moyer, Yvonne, Wilson, Richard K., Mardis, Elaine R., Gastier-Foster, Julie M., Pfau, Ruthann B.
Published in The Journal of molecular diagnostics : JMD (01.10.2020)
Published in The Journal of molecular diagnostics : JMD (01.10.2020)
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De novo loss-of-function variants in NSD2 ( WHSC1 ) associate with a subset of Wolf-Hirschhorn syndrome
Barrie, Elizabeth S, Alfaro, Maria P, Pfau, Ruthann B, Goff, Melanie J, McBride, Kim L, Manickam, Kandamurugu, Zmuda, Erik J
Published in Cold Spring Harbor molecular case studies (01.08.2019)
Published in Cold Spring Harbor molecular case studies (01.08.2019)
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Journal Article
Disease-Associated Mosaic Variation in Clinical Exome Sequencing: A Two Year Pediatric Tertiary Care Experience
Miller, Cecelia R, Lee, Kristy, Pfau, Ruthann B, Reshmi, Shalini C, Corsmeier, Donald J, Hashimoto, Sayaka, Dave-Wala, Ashita, Jayaraman, Vijayakumar, Koboldt, Daniel C, Matthews, Theodora, Mouhlas, Danielle, Stein, Maggie, McKinney, Aimee, Grossman, Tom, Kelly, Benjamin J, White, Peter, Magrini, Vincent, Wilson, Richard K, Mardis, Elaine R, Cottrell, Catherine E
Published in Cold Spring Harbor molecular case studies (01.06.2020)
Published in Cold Spring Harbor molecular case studies (01.06.2020)
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The diagnostic challenges and clinical course of a myeloid/lymphoid neoplasm with eosinophilia and ZBTB20-JAK2 gene fusion presenting as B-lymphoblastic leukemia
Lee, Winston Y, Pfau, Ruthann B, Choi, Sarah M, Yang, Jiong, Xiao, Hong, Putnam, Eileen M, Ryan, Russell Jh, Bixby, Dale L, Shao, Lina
Published in Cold Spring Harbor molecular case studies (01.04.2020)
Published in Cold Spring Harbor molecular case studies (01.04.2020)
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Journal Article
MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation
Pfau, Ruthann B, Thrush, Devon Lamb, Hamelberg, Elizabeth, Bartholomew, Dennis, Botes, Shaun, Pastore, Matthew, Tan, Christopher, del Gaudio, Daniela, Gastier-Foster, Julie M, Astbury, Caroline
Published in European journal of medical genetics (01.11.2013)
Published in European journal of medical genetics (01.11.2013)
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37. Prenatal diagnosis of an unusual mosaic homozygous t(2;3) balanced translocation
Melas, Marilena, Deeg, Carol, Hamelberg, Elizabeth, Haughn, Mollie, Kennedy, Hannah, Meleski, Matthew, Roman, Donald, Smith, Michael, Witkoff, Adam, Wobser, Jeffrey, Hashimoto, Sayaka, Jacobson, Theodora, Mouhlas, Danielle, Reshmi, Shalini C., Schultz, Matthew J., Pfau, Ruthann B.
Published in Cancer genetics (01.04.2021)
Published in Cancer genetics (01.04.2021)
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