Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumor-only versus paired tumor-normal sequencing
Newman, Haley, Clark, Mary Egan, Wong, Derek, Wu, Jinhua, Brodeur, Garrett M, Hunger, Stephen P, Tasian, Sarah K, Olson, Timothy, Warren, Julia T, Teachey, David T, Bona, Kira, Schubert, Jeffrey, Golenberg, Netta, Patel, Maha, Denenberg, Elizabeth H, Fanning, Elizabeth A, Chen, Jiani, Luke, Tamara, Charles, Sarah, Gallo, Daniel, Cao, Kajia, Fu, Weixuan, Fan, Zhiqian, Surrey, Lea F, Wertheim, Gerald, Luo, Minjie, MacFarland, Suzanne P, Li, Marilyn M, Zhong, Yiming
Published in Haematologica (Roma) (22.02.2024)
Published in Haematologica (Roma) (22.02.2024)
Get full text
Journal Article
Identification of TP53 germline variants in pediatric patients undergoing tumor testing: strategy and prevalence
Luo, Minjie, Wong, Derek, Zelley, Kristin, Wu, Jinhua, Schubert, Jeffery, Denenberg, Elizabeth H, Fanning, Elizabeth A, Chen, Jiani, Gallo, Daniel, Golenberg, Netta, Patel, Maha, Conlin, Laura K, Maxwell, Kara N, Wertheim, Gerald B, Surrey, Lea F, Zhong, Yiming, Brodeur, Garrett M, MacFarland, Suzanne P, Li, Marilyn M
Published in JNCI : Journal of the National Cancer Institute (01.08.2024)
Published in JNCI : Journal of the National Cancer Institute (01.08.2024)
Get full text
Journal Article
Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield
Yamamoto, Nobuko, Balciuniene, Jorune, Hartman, Tiffiney, Diaz-Miranda, Maria Alejandra, Bedoukian, Emma, Devkota, Batsal, Lawrence, Audrey, Golenberg, Netta, Patel, Maha, Tare, Archana, Chen, Robert, Schindler, Emma, Choi, Jiwon, Kaur, Maninder, Charles, Sarah, Chen, Jiani, Fanning, Elizabeth A., Dechene, Elizabeth, Cao, Kajia, Jill, Murrell R., Rajagopalan, Ramakrishnan, Bayram, Yavuz, Dulik, Matthew C., Germiller, John, Conlin, Laura K., Krantz, Ian D., Luo, Minjie
Published in The Journal of pediatrics (01.11.2023)
Published in The Journal of pediatrics (01.11.2023)
Get full text
Journal Article
Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a Custom-Designed Next-Generation Sequencing Panel
Lin, Fumin, Cao, Kajia, Chang, Fengqi, Oved, Joseph H, Luo, Minjie, Fan, Zhiqian, Schubert, Jeffrey, Wu, Jinhua, Zhong, Yiming, Gallo, Daniel J, Denenberg, Elizabeth H, Chen, Jiani, Fanning, Elizabeth A, Lambert, Michele P, Paessler, Michele E, Surrey, Lea F, Zelley, Kristin, MacFarland, Suzanne, Kurre, Peter, Olson, Timothy S, Li, Marilyn M
Published in The Journal of molecular diagnostics : JMD (01.03.2024)
Published in The Journal of molecular diagnostics : JMD (01.03.2024)
Get full text
Journal Article
Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures”
Costantini, Alice, Valta, Helena, Baratang, Nissan Vida, Yap, Patrick, Bertola, Débora R., Yamamoto, Guilherme L., Kim, Chong A., Chen, Jiani, Wierenga, Klaas J., Fanning, Elizabeth A., Escobar, Luis, McWalter, Kirsty, McLaughlin, Heather, Willaert, Rebecca, Begtrup, Amber, Alm, Jessica J., Reinhardt, Dieter P., Mäkitie, Outi, Campeau, Philippe M.
Published in Bone (New York, N.Y.) (01.04.2019)
Published in Bone (New York, N.Y.) (01.04.2019)
Get full text
Journal Article
A novel TP53 tandem duplication in a child with Li-Fraumeni syndrome
Xu, Feng, Aref-Eshghi, Erfan, Wu, Jinhua, Schubert, Jeffrey, Wertheim, Gerald, Bhatti, Tricia, Pogoriler, Jennifer, Patel, Maha, Cao, Kajia, Long, Ariel, Fan, Zhiqian, Denenberg, Elizabeth H, Fanning, Elizabeth A, Wilmoth, Donna M, Luo, Minjie, Conlin, Laura K, Dain, Aleksandra S, Zelley, Kristin, Baldino, Sarah, Balamuth, Naomi, MacFarland, Suzanne, Li, Marilyn M, Zhong, Yiming
Published in Cold Spring Harbor molecular case studies (01.04.2022)
Published in Cold Spring Harbor molecular case studies (01.04.2022)
Get full text
Journal Article
The spectrum of RAF1 fusion positive solid tumors in children and young adults
Chen, Jiani, Wu, Jinhua, Schubert, Jeff, Lin, Fumin, Denenberg, Elizabeth H., Muir, Alison, Romasko, Edward J., Fanning, Elizabeth A., Bhatti, Tricia R., Cole, Kristina Ann, Kreiger, Portia A., Mattei, Peter, Luo, Minjie, Zhong, Yiming, Resnick, Adam C, Storm, Phillip B, Santi, Mariarita, Surrey, Lea F., Li, Marilyn M.
Published in Journal of clinical oncology (01.06.2023)
Published in Journal of clinical oncology (01.06.2023)
Get full text
Journal Article
Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumoronly versus paired tumor-normal sequencing
Newman, Haley, Clark, Mary Egan, Wong, Derek, Wu, Jinhua, Brodeur, Garrett M, Hunger, Stephen P, Tasian, Sarah K, Olson, Timothy, Warren, Julia T, Teachey, David T, Bona, Kira, Schubert, Jeffrey, Golenberg, Netta, Patel, Maha, Denenberg, Elizabeth H, Fanning, Elizabeth A, Chen, Jiani, Luke, Tamara, Charles, Sarah, Gallo, Daniel, Cao, Kajia, Fu, Weixuan, Fan, Zhiqian, Surrey, Lea F, Wertheim, Gerald, Luo, Minjie, MacFarland, Suzanne P, Li, Marilyn M, Zhong, Yiming
Published in Haematologica (Roma) (01.09.2024)
Published in Haematologica (Roma) (01.09.2024)
Get full text
Journal Article
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome
Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A, Suri, Mohnish, Lewis, Andrea M, Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O, Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T, Graham, Brett, Harris, Jill M, Gibson, James B, Pastore, Matthew, McBride, Kim L, Komara, Makanko, Al-Gazali, Lihadh, Al Shamsi, Aisha, Fanning, Elizabeth A, Wierenga, Klaas J, Scott, Daryl A, Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Holder, Jr, J Lloyd, Burrage, Lindsay C, Seaver, Laurie H, Van Maldergem, Lionel, Mahida, Sonal, Soul, Janet S, Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne K, Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, Muzny, Donna M, Gibbs, Richard A, Elsea, Sarah H, Posey, Jennifer E, Bi, Weimin, Lalani, Seema, Xia, Fan, Yang, Yaping, Eng, Christine M, Lupski, James R, Liu, Pengfei
Published in Genome medicine (28.02.2019)
Published in Genome medicine (28.02.2019)
Get full text
Journal Article
FORMATION AND RESORPTION OF THREE DECIDUOUS TEETH IN CHILDREN
Moorrees, C F, Fanning, E A, Hunt, Jr, E E
Published in American journal of physical anthropology (01.06.1963)
Published in American journal of physical anthropology (01.06.1963)
Get more information
Journal Article
Abstract 5268: The spectrum of FGFR mutations in pediatric and young adult solid tumor
Wu, Jinhua, Schubert, Jeffrey, Xu, Feng, Long, Ariel, Patel, Maha, Golenberg, Netta, Fu, Weixuan, Cao, Kajia, Chen, Jiani, Denenberg, Elizabeth H., Fanning, Elizabeth A., Bagatell, Rochelle, Laetsch, Theodore W., Resnick, Adam, Santi, Mariarita, Storm, Phillip Jay B., Luo, Minjie, Surrey, Lea F., Zhong, Yiming, Li, Marilyn M.
Published in Cancer research (Chicago, Ill.) (15.06.2022)
Published in Cancer research (Chicago, Ill.) (15.06.2022)
Get full text
Journal Article
32. Genetic diagnosis of bone marrow failure syndromes: Strategies, yields, and challenges
Luo, Minjie, Surrey, Lea F., Zhong, Yiming, Gallo, Daniel J., Denenberg, Elizabeth H., Fanning, Elizabeth A., Lin, Fumin, Zhao, Xiaonan, Wu, Jinhua, Schubert, Jeffery, Zelley, Kristin, Paessler, Michele E., Oved, Joseph H., Hartung, Helge D., Lambert, Michele P., Kurre, Peter, Olson, Timothy S., Li, Marilyn M.
Published in Cancer genetics (01.06.2020)
Published in Cancer genetics (01.06.2020)
Get full text
Journal Article
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome
Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A, Suri, Mohnish, Lewis, Andrea M, Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O, Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T, Graham, Brett, Harris, Jill M, Gibson, James B, Pastore, Matthew, McBride, Kim L, Komara, Makanko, Al-Gazali, Lihadh, Al Shamsi, Aisha, Fanning, Elizabeth A, Wierenga, Klaas J, Scott, Daryl A, Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Lloyd Holder, Jr, J, Burrage, Lindsay C, Seaver, Laurie H, Van Maldergem, Lionel, Mahida, Sonal, Soul, Janet S, Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne K, Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, Muzny, Donna M, Gibbs, Richard A, Elsea, Sarah H, Posey, Jennifer E, Bi, Weimin, Lalani, Seema, Xia, Fan, Yang, Yaping, Eng, Christine M, Lupski, James R, Liu, Pengfei
Published in Genome medicine (25.03.2019)
Published in Genome medicine (25.03.2019)
Get full text
Journal Article
Age Variation of Formation Stages for Ten Permanent Teeth
Moorrees, Coenraad F.A., Fanning, Elizabeth A., Hunt, Edward E.
Published in Journal of dental research (01.11.1963)
Published in Journal of dental research (01.11.1963)
Get full text
Journal Article