Search Results - Elizabeth A. Fanning

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  1. 1

    P741: Recurrent 2q11.2 deletions and duplications: A look at segregation, clinical presentation, and additional genetic testing by Elizabeth A. Fanning, Sara Reichert, Brooke Weckselblatt, Matthew Dulik, Minjie Luo, Yavuz Bayram, Holly Dubbs, Elaine Zackai, Nancy Spinner, Laura Conlin

    Published in Genetics in Medicine Open (2025-01-01)
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  2. 2

    P640: Reevaluating the standard approach to genomic testing in infants: Targeted genomic testing vs exome/genome sequencing as a first-tier test by Sara Reichert, Emma Bedoukian, K. Taylor Wild, Jennifer Lent, Elizabeth A. Fanning, Alexandra Heck, Ramakrishnan Rajagopalan, Laura Conlin, Nancy Spinner, Matthew Dulik

    Published in Genetics in Medicine Open (2025-01-01)
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  3. 3

    P691: Genetic testing for inherited red blood cell disorders: Diagnostic yield and clinical utility by Sarah Charles, Alex Gileta, Julia Mewha, Tammy Luke, Jacob Squicciarini, Elizabeth H. Denenberg, Elizabeth A. Fanning, Jiani Chen, Alicia Moseley, Jinhua Wu, Jeffrey Schubert, Lea F. Surrey, Yiming Zhong, Naomi Gunawardena, Kaoru Takasaki, Marilyn Li, Stella T. Chou, Minjie Luo

    Published in Genetics in Medicine Open (2025-01-01)
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  4. 4

    O11: Mutational spectra of >1000 pediatric acute leukemias and their clinical utility in prognosis, risk stratification, and precision medicine therapeutics by Derek Wong, Haley Newman, Jinhua Wu, Jeffrey Schubert, Elizabeth A. Fanning, Elizabeth H. Denenberg, Jiani Chen, Feng Xu, Zhiqian Fan, Kajia Cao, Weixuan Fu, Daniel Gallo, Lea F. Surrey, Minjie Luo, Stephen Hunger, Kathrin Bernt, Gerald Wertheim, Marilyn Li, Sarah Tasian, Yiming Zhong

    Published in Genetics in Medicine Open (2025-01-01)
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  5. 5

    Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumor-only <i>versus</i> paired tumor-normal sequencing by Haley Newman, Mary Egan Clark, Derek Wong, Jinhua Wu, Garrett M Brodeur, Stephen P Hunger, Sarah K Tasian, Timothy Olson, Julia T. Warren, David T Teachey, Kira Bona, Jeffrey Schubert, Netta Golenberg, Maha Patel, Elizabeth H Denenberg, Elizabeth A Fanning, Jiani Chen, Tamara Luke, Sarah Charles, Daniel Gallo, Kajia Cao, Weixuan Fu, Zhiqian Fan, Lea F Surrey, Gerald Wertheim, Minjie Luo, Suzanne P MacFarland, Marilyn M Li, Yiming Zhong

    Published in Haematologica (2024-02-01)
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  6. 6

    Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with simila... by Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Margaret Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al-Gazali, Aisha Al Shamsi, Elizabeth A. Fanning, Klaas J. Wierenga, Daryl A. Scott, Ziva Ben-Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder Jr, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne K. Lampe, Ajith Kumar, Melissa Lees, Muriel Holder-Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, The DDD study, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu

    Published in Genome Medicine (2019-03-01)
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  7. 7

    De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith... by Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Margaret Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al-Gazali, Aisha Al Shamsi, Elizabeth A. Fanning, Klaas J. Wierenga, Daryl A. Scott, Ziva Ben-Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne K. Lampe, Ajith Kumar, Melissa Lees, Muriel Holder-Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, The DDD study, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu

    Published in Genome Medicine (2019-02-01)
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