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S

Suzanne P. MacFarland

University of Pennsylvania
H指数:21
被引数:1,340

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High-Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient-Reported Data

WAGR谱系障碍的高分辨率基因组特征分析：来自一个新型队列和文献综述的见解，以及患者报告数据的验证

American Journal of Medical Genetics Part A
IF1.7
2026-09-010
OAAI
George, Andrew M.; Duki, Bamelak T.; Katz, Zoe S.; Viswanathan, Aravind; MacFarland, Suzanne P.; Hathaway, Evan R.; Monahan, Caitlin; Morris, John; Trout, Kelly L.; Krantz, Shari M.; Ganguly, Arupa; Kalish, Jennifer M.
Beckwith-Wiedemann syndrome multiomic analysis of hepatoblastoma uncovers unique tumour heterogeneity and cellular landscapes, including transition cells leading to tumour formation

贝克威思-韦德曼综合征肝母细胞瘤的多组学分析揭示了独特的肿瘤异质性和细胞景观，包括导致肿瘤形成的过渡细胞

BJC Reports
IF0
2026-05-010
OA
Nirgude, Snehal; Tichy, Elisia D.; Zhang, Yuanchao; Trang, Khanh B.; Pradieu, Rose D.; Xie, Michael; Bernt, Kathrin M.; MacFarland, Suzanne P.; Kalish, Jennifer M.
Clinical and molecular characteristics of constitutional mismatch repair deficiency syndrome: a case series of five children and appraisal of diagnostic guidelines

常染色体错配修复缺陷综合征的临床与分子特征：五例儿童病例系列及诊断指南评估

Diagnostic Pathology
IF2.3
2026-01-220
PRE
Vazzano Goldstone, Jennifer; Logan, Suzanna J.; Wilkins, Benjamin J.; MacFarland, Suzanne P.; Conces, Miriam; Boue, Daniel R.; Pierson, Christopher R.; Kahwash, Samir; Schieffer, Kathleen M.; Cottrell, Catherine E.; Colace, Susan; Zajo, Kristin; Shenoy, Archana
Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia

利用基因组诊断学对儿童急性白血病的预后和治疗。

HEMASPHERE
IF14.6
2025-11-250
OAAI
Newman, Haley; Wong, Derek; Wu, Jinhua; Schubert, Jeffrey; Golenberg, Netta; Naveh, Natali; Patel, Maha; Xu, Feng; Charles, Sarah; Chen, Jiani; Denenberg, Elizabeth H.; Fanning, Elizabeth A.; Gallo, Daniel; Luke, Tammy; Thomas, Morgan; Cao, Kajia; Chan, Ada J. S.; Holloman, Munashe; Fan, Zhiqian; Fu, Weixuan; Hunger, Stephen P.; Macfarland, Suzanne P.; Bernt, Kathrin M.; Surrey, Lea F.; Luo, Minjie; Wertheim, Gerald B.; Li, Marilyn M.; Tasian, Sarah K.; Zhong, Yiming
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors

生殖系致病变异影响儿童中枢神经系统肿瘤的体细胞改变和患者结局

Nature Communications
IF15.7
2025-11-210
OAAI
Ryan J. Corbett; Rebecca S. Kaufman; Shelly W. McQuaid; Zalman Vaksman; Saksham Phul; Miguel A. Brown; Jennifer L. Mason; Sebastian M. Waszak; Bo Zhang; Chuwei Zhong; Emily Blauel; Heena Desai; Ryan Hausler; Ammar S. Naqvi; Jessica M. Daggett; Alex Sickler; Evan C. Cresswell-Clay; Patricia J. Sullivan; Antonia Chroni; Zhuangzhuang Geng; Elizabeth M. Gonzalez; Yuankun Zhu; Allison P. Heath; Marilyn Li; Phillip B. Storm; Adam C. Resnick; Kara N. Maxwell; Kristina A. Cole; Angela J. Waanders; Miriam Bornhorst; Suzanne P. MacFarland; Jo Lynne Rokita; Sharon J. Diskin
A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome

一种基于贝叶斯定量分析的基因特异性变异分类方法：更新的专家小组建议改进了TP53生殖细胞变异在Li-Fraumeni综合征中的分类

Genome Medicine
IF11.2
2025-10-240
OAAI
Cristina Fortuno; Megan N. Frone; Jessica Mester; Miguel de la Hoya; Phuong L. Mai; Tina Pesaran; Maria Isabel Achatz; Rebecca Bassett; Carolina Bustamante; Stephanie Crowley; Kelvin Cesar de Andrade; D. Gareth Evans; Bingjian Feng; Laura Fuqua; Maria Isabel Harrell; Jessica N. Hatton; Robert Huether; Chimene Kesserwan; Kristy Lee; Suzanne P. MacFarland; Jamie L. Maciaszek; Kara Maxwell; Kelly McGoldrick; Maureen Murphy; Bita Nehoray; Judith Penkert; Emilia Modolo Pinto; Sharon E. Plon; Alison Schwartz-Levine; Ashley S. Thompson; Wenyi Wang; Gerard P. Zambetti; Kristin Zelley; Paul A. James; Sharon A. Savage; Christian P. Kratz; Amanda B. Spurdle
Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies

将深度表型量化与下一代表型分析相结合，对192名具有生殖系组蛋白病的个体进行研究

HUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
2025-07-010
OAAI
Lubin, Emily E.; Gonzalez, Elizabeth M.; Sangree, Annabel K.; Durham, Emily L.; Klinkhammer, Hannah; Li, Jing-Mei; Smith, Sarina M.; Layo-Carris, Dana E.; Clark, Kelly J.; Melendez-Perez, Ashley J.; Wang, Xiao Min; Angireddy, Rajesh; Weiss, Erin E.; Barakat, Tahsin Stefan; Mercier, Sandra; Cogne, Benjamin; Koene, Saskia; Hilhorst-Hofstee, Yvonne; Rydzanicz, Malgorzata; Ploski, Rafal; Cano, Maria de los Gomez; Palomares-Bralo, Maria; Arevalo, Tania Barragan; Tan, Tiong Yang; Gallacher, Lyndon; MacFarland, Suzanne P.; Ahrens-Nicklas, Rebecca C.; Nomakuchi, Tomoki T.; Bhoj, Elizabeth J. K.
Risk of therapy-related subsequent cancers in individuals with germline TP53 variants
CANCER RESEARCH
IF16.6
2024-09-050
PRE
Villani, Anita; Khincha, Payal; Hatton, Jessica; Schonfeld, Sara; Goudie, Catherine; Oba, Leatrisse; Pithadia, Kishan; Sanger, Birte; Kratz, Christian; Le, Anh N.; Orr, Caitlin; Maxwell, Kara N.; Naumer, Anne; Vagher, Jennie; Kohlmann, Wendy; Schi, Joshua; dos Santos, Elizabeth Santana; Michaeli, Orli; Carson, Jacob J.; Tsang, Derek S.; Kim, Raymond; Maciaszek, Jamie L.; Nichols, Kim E.; Goodman, Victoria E.; MacFarland, Suzanne P.; Reichman, Lara; Achatz, Maria Isabel; Savage, Sharon; Malkin, David; Morton, Lindsay M.
Pediatric Cancer Screening in Hereditary Gastrointestinal Cancer Risk Syndromes: An Update from the AACR Childhood Cancer Predisposition Working Group
CLINICAL CANCER RESEARCH
IF10.2
2024-08-271
OA
MacFarland, Suzanne P.; Becktell, Kerri; Schneider, Kami Wolfe; Kuiper, Roland P.; Lesmana, Harry; Meade, Julia; Nichols, Kim E.; Porter, Christopher C.; Savage, Sharon A.; Schultz, Kris Ann; Scott, Hamish; States, Lisa; Tabori, Uri; Tamura, Chieko; Tomlinson, Gail; Zelley, Kristin; Durno, Carol; Bauer, Andrew; Plon, Sharon E.
INTEGRATED GERMLINE AND SOMATIC PROFILING OF PEDIATRIC BRAIN TUMORS REVEALS INCIDENTAL FINDINGS AND NOVEL TUMOR BIOLOGY
NEURO-ONCOLOGY
IF13.4
2024-06-180
OAAI
Corbett, Ryan J.; Kaufman, Rebecca; McQuaid, Shelly W.; Vaksman, Zalman; Phul, Saksham; Brown, Miguel A.; Mason, Jennifer L.; Desai, Heena; Hausler, Ryan; Naqvi, Ammar S.; Chroni, Antonia; Geng, Zhuangzhuang; Zhang, Bo; Zhong, Chuwei; Zhu, Yuankun; Heath, Allison P.; Li, Marilyn; Storm, Phillip B.; Resnick, Adam C.; Maxwell, Kara N.; Bornhorst, Miriam; Cole, Kristina A.; Waanders, Angela J.; MacFarland, Suzanne P.; Rokita, Jo Lynne; Diskin, Sharon J.
Clinical Updates and Surveillance Recommendations for DNA Replication Repair Deficiency Syndromes in Children and Young Adults
CLINICAL CANCER RESEARCH
IF10.2
2024-06-112
OA
Das, Anirban; MacFarland, Suzanne P.; Meade, Julia; Hansford, Jordan R.; Schneider, Kami W.; Kuiper, Roland P.; Jongmans, Marjolijn C. J.; Lesmana, Harry; Schultz, Kris Ann P.; Nichols, Kim E.; Durno, Carol; Zelley, Kristin; Porter, Christopher C.; States, Lisa J.; Ben-Shachar, Shay; Savage, Sharon A.; Kalish, Jennifer M.; Walsh, Michael F.; Scott, Hamish S.; Plon, Sharon E.; Tabori, Uri
Identification of TP53 germline variants in pediatric patients undergoing tumor testing: strategy and prevalence
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
IF7.2
2024-05-032
PRE
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.
Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a CustomDesigned Next-Generation Sequencing Panel

使用定制设计的下一代测序面板揭示遗传性骨髓衰竭综合征的遗传病因

JOURNAL OF MOLECULAR DIAGNOSTICS
IF3.4
2024-03-010
OAAI
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.; Lit, Marilyn M.

研究方向

暂未获取到该数据
K
Kara N. Maxwell
H 指数:36论文数:284被引数:6,143
G
Garrett M. Brodeur
H 指数:82论文数:354被引数:3.4万
M
Marilyn M. Li
H 指数:39论文数:281被引数:6,380
K
Kristin Zelley
H 指数:21论文数:90被引数:1,685
K
Kim E. Nichols
H 指数:81论文数:620被引数:2.5万
L
Lea F. Surrey
H 指数:30论文数:168被引数:3,943
M
Minjie Luo
H 指数:28论文数:166被引数:2,597
S
Susan M. Domchek
H 指数:104论文数:1,046被引数:4.9万
K
Katherine L. Nathanson
H 指数:115论文数:1,165被引数:5.1万
A
Angela J. Waanders
H 指数:30论文数:194被引数:6,968