Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A von Gianferante, Matthew D, Wlodarski, Marcin W, Atsidaftos, Evangelia, Da Costa, Lydie, Delaporta, Polyxeni, Farrar, Jason E, Goldman, Frederick D, Hussain, Maryam, Kattamis, Antonis, Leblanc, Thierry, Lipton, Jeffrey M, Niemeyer, Charlotte M, Pospisilova, Dagmar, Quarello, Paola, Ramenghi, Ugo, Sankaran, Vijay G, Vlachos, Adrianna, Volejnikova, Jana, Alter, Blanche P, Savage, Sharon A, Giri, Neelam

Volltext

Osteosarcoma: A Surveillance, Epidemiology, and End Results program‐based analysis from 1975 to 2017 von Cole, Sarah, Gianferante, D. Matthew, Zhu, Bin, Mirabello, Lisa

Volltext

Germline and somatic genetics of osteosarcoma — connecting aetiology, biology and therapy von Gianferante, D. Matthew, Mirabello, Lisa, Savage, Sharon A.

Volltext

Genotype‐phenotype associations in individuals with Diamond Blackfan anaemia von Gianferante, D. Matthew, Mendez, Kyra J. W., Cole, Sarah, Gadalla, Shahinaz M., Alter, Blanche P., Savage, Sharon A., Giri, Neelam

Volltext

Frequency of pathogenic germline variants in pediatric medulloblastoma survivors von Rees, Donald, Gianferante, D Matthew, Kim, Jung, Stavrou, Theodora, Reaman, Gregory, Sapkota, Yadav, Gramatges, M Monica, Morton, Lindsay M, Hudson, Melissa M, Armstrong, Gregory T, Freedman, Neal D, Huang, Wen-Yi, Diver, W Ryan, Lori, Adriana, Luo, Wen, Hicks, Belynda D, Liu, Jia, Hutchinson, Amy A, Goldstein, Alisa M, Mirabello, Lisa

Volltext

Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19 von Cole, Sarah, Giri, Neelam, Alter, Blanche P., Gianferante, D. Matthew

Volltext

Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features von Thompson, Ashley S., Giri, Neelam, Gianferante, D. Matthew, Jones, Kristine, Savage, Sharon A., Alter, Blanche P., McReynolds, Lisa J.

Volltext

Genetically inferred birthweight, height, and puberty timing and risk of osteosarcoma von Gianferante, D. Matthew, Moore, Amy, Spector, Logan G., Wheeler, William, Yang, Tianzhong, Hubbard, Aubrey, Gorlick, Richard, Patiño-Garcia, Ana, Lecanda, Fernando, Flanagan, Adrienne M., Amary, Fernanda, Andrulis, Irene L., Wunder, Jay S., Thomas, David M., Ballinger, Mandy L., Serra, Massimo, Hattinger, Claudia, Demerath, Ellen, Johnson, Will, Birmann, Brenda M., De Vivo, Immaculata, Giles, Graham, Teras, Lauren R., Arslan, Alan, Vermeulen, Roel, Sample, Jeannette, Freedman, Neal D., Huang, Wen-Yi, Chanock, Stephen J., Savage, Sharon A., Berndt, Sonja I., Mirabello, Lisa

Volltext

Whole‐exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data von Gianferante, D. Matthew, Rotunno, Melissa, Dean, Michael, Zhou, Weiyin, Hicks, Belynda D., Wyatt, Kathleen, Jones, Kristine, Wang, Mingyi, Zhu, Bin, Goldstein, Alisa M., Mirabello, Lisa

Volltext

Abstract 4289: Whole-exome sequencing study of nevoid basal cell carcinoma syndrome (NBCCS) families to identify disease-causing exonic mutations von Gianferante, Matthew, Goldstein, Alisa, Wang, Mingyi, Zhu, Bin, Hicks, Belynda, Mirabello, Lisa

Volltext

Patterns of care in treating childhood neuroblastoma: Evidence from a population level study (SEER) in the United States von Coughlan, Diarmuid, Lynch, Charles, Gianferante, Matthew, Stevens, Jennifer, Harlan, Linda C

Volltext

Phenotypes of Diamond Blackfan Anemia Patients with RPL35A Haploinsufficiency Due to 3q29 Deletion Compared with RPL35A Single Nucleotide Variants or Small Insertion/Deletions von Giri, Neelam, Gianferante, Matthew, Atsidaftos, Evangelia, Wlodarski, Marcin W., Quarello, Paola, Volejnikova, Jana, Delaporta, Polyxeni, Sankaran, Vijay G., Farrar, Jason E., Hussain, Maryam, McReynolds, Lisa J., Kattamis, Antonis, Lipton, Jeffrey M, Niemeyer, Charlotte, Pospisilova, Dagmar, Ramenghi, Ugo, Savage, Sharon A., Vlachos, Adrianna, Alter, Blanche P.

Volltext

Cranial radiation for pediatric T‐lineage acute lymphoblastic leukemia: A systematic review and meta‐analysis von Kelly, Michael J., Trikalinos, Thomas A., Dahabreh, Issa J., Gianferante, Matthew, Parsons, Susan K.

Volltext

Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study von Kim, Jung, Gianferante, Matthew, Karyadi, Danielle M, Hartley, Stephen W, Frone, Megan N, Luo, Wen, Robison, Leslie L, Armstrong, Gregory T, Bhatia, Smita, Dean, Michael, Yeager, Meredith, Zhu, Bin, Song, Lei, Sampson, Joshua N, Yasui, Yutaka, Leisenring, Wendy M, Brodie, Seth A, de Andrade, Kelvin C, Fortes, Fernanda P, Goldstein, Alisa M, Khincha, Payal P, Machiela, Mitchell J, McMaster, Mary L, Nickerson, Michael L, Oba, Leatrisse, Pemov, Alexander, Pinheiro, Maisa, Rotunno, Melissa, Santiago, Karina, Wegman-Ostrosky, Talia, Diver, W Ryan, Teras, Lauren, Freedman, Neal D, Hicks, Belynda D, Zhu, Bin, Wang, Mingyi, Jones, Kristine, Hutchinson, Amy A, Dagnall, Casey, Savage, Sharon A, Tucker, Margaret A, Chanock, Stephen J, Morton, Lindsay M, Stewart, Douglas R, Mirabello, Lisa

Volltext

Abstract 4871: Whole-exome sequencing identifies a high frequency of germline deleterious variants in cancer predisposition genes in individuals with osteosarcoma von Koster, Roelof, Zhu, Bin, Yeager, Meredith, Dean, Michael, Gianferante, Matthew, Song, Lei, Sampson, Joshua, Gastier-Foster, Julie, Gorlick, Richard, Toledo, Silvia Regina Caminada de, Petrilli, Antonio, Patiño-Garcia, Ana, Lecanda, Fernando, Serra, Massimo, Hattinger, Claudia, Picci, Piero, Scotlandi, Katia, Flanagan, Adrienne, Tirabosco, Roberto, Amary, Maria, Kurucu, Nilgün, Ilhan, Inci Ergurhan, Sari, Neriman, Ballinger, Mandy, Thomas, David, Barkauskas, Donald, Hicks, Belynda, Tucker, Margaret, Caporaso, Neil, Hoover, Robert, Chanock, Stephen, Savage, Sharon, Mirabello, Lisa

Volltext

Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls von Kim, Jung, Luo, Wen, Wang, Mingyi, Wegman-Ostrosky, Talia, Frone, Megan N, Johnston, Jennifer J, Nickerson, Michael L, Rotunno, Melissa, Li, Shengchao A, Achatz, Maria I, Brodie, Seth A, Dean, Michael, de Andrade, Kelvin C, Fortes, Fernanda P, Gianferante, Matthew, Khincha, Payal, McMaster, Mary L, McReynolds, Lisa J, Pemov, Alexander, Pinheiro, Maisa, Santiago, Karina M, Alter, Blanche P, Caporaso, Neil E, Gadalla, Shahinaz M, Goldin, Lynn R, Greene, Mark H, Loud, Jennifer, Yang, Xiaohong R, Freedman, Neal D, Gapstur, Susan M, Gaudet, Mia M, Calista, Donato, Ghiorzo, Paola, Fargnoli, Maria Concetta, Nagore, Eduardo, Peris, Ketty, Puig, Susana, Landi, Maria Teresa, Hicks, Belynda, Zhu, Bin, Liu, Jia, Sampson, Joshua N, Chanock, Stephen J, Mirabello, Lisa J, Morton, Lindsay M, Biesecker, Leslie G, Tucker, Margaret A, Savage, Sharon A, Goldstein, Alisa M, Stewart, Douglas R

Volltext

Genetically inferred birthweight, height, and puberty timing and risk of osteosarcoma von Gianferante, D. Matthew, Moore, Amy, Spector, Logan G, Wheeler, William, Yang, Tianzhong, Hubbard, Aubrey, Gorlick, Richard, Patiño-Garcia, Ana, Lecanda, Fernando, Flanagan, Adrienne M, Amary, Fernanda, Andrulis, Irene L, Wunder, Jay S, Thomas, David M, Ballinger, Mandy L, Serra, Massimo, Hattinger, Claudia, Demerath, Ellen, Johnson, Will, Birmann, Brenda M, De Vivo, Immaculata, Giles, Graham, Teras, Lauren R, Arslan, Alan, Vermeulen, Roel, Sample, Jeannette, Freedman, Neal D, Huang, Wen Yi, Chanock, Stephen J, Savage, Sharon A, Berndt, Sonja I, Mirabello, Lisa

Volltext

Cranial Irradiation for Pediatric T-Lineage Acute Lymphoblastic Leukemia: A Systematic Review and Meta-Analysis von Kelly, Michael J., Trikalinos, Thomas A., Gianferante, D. Matthew, Parsons, Susan K.

Volltext

Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19 von Cole, Sarah, Giri, Neelam, Alter, Blanche P, Gianferante, D Matthew

Volltext

Genetically inferred birthweight, height, and puberty timing and risk of osteosarcoma von Gianferante, D Matthew, Moore, Amy, Spector, Logan G, Wheeler, William, Yang, Tianzhong, Hubbard, Aubrey, Gorlick, Richard, Patiño-Garcia, Ana, Lecanda, Fernando, Flanagan, Adrienne M, Amary, Fernanda, Andrulis, Irene L, Wunder, Jay S, Thomas, David M, Ballinger, Mandy L, Serra, Massimo, Hattinger, Claudia, Demerath, Ellen, Johnson, Will, Birmann, Brenda M, De Vivo, Immaculata, Giles, Graham, Teras, Lauren R, Arslan, Alan, Vermeulen, Roel, Sample, Jeannette, Freedman, Neal D, Huang, Wen-Yi, Chanock, Stephen J, Savage, Sharon A, Berndt, Sonja I, Mirabello, Lisa

Volltext bestellen