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M

Mark D. Fleming

boston children's hospital
H指数:81
被引数:3.2万

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Germline LCP1 mutations cause immunodeficiency with neutropenia, monocytopenia, lymphopenia and defective cytokinesis

生殖系LCP1基因突变导致免疫缺陷，伴有中性粒细胞减少、单核细胞减少、淋巴细胞减少以及细胞质分裂缺陷。

Blood Advances
IF7.1
2025-10-090
OA
Thijs van Bergen; Dennis A. Bosch; Christine Bellanné-Chantelot; Roger Mulet-Lazaro; Jacob R. Bledsoe; Lanpeng Chen; Hans W.J. de Looper; Claire van Dijk; Mariette N.D. ter Borg; Eric M.J. Bindels; Remco M. Hoogenboezem; Onno Roovers; Patricia A. Olofsen; Marije Bartels; Joris van Montfrans; Puck Breed; Elisabeth Salzer; Marloes G. Holierhoek; Brigitte Nelken; Blandine Beaupain; Mark D. Fleming; Akiko Shimamura; Marc H.G.P. Raaijmakers; Jean Donadieu; Peter E. Newburger; Ivo P. Touw; Anna M. Aalbers
Genomic profiling of pediatric mycosis fungoides, lymphomatoid papulosis z, and primary cutaneous anaplastic large cell lymphoma identifies recurrent tyrosine kinase gene fusions

儿童真菌样霉菌病、淋巴瘤样丘疹病Z和原发性皮肤间变性大细胞淋巴瘤的基因组分析鉴定出复发性酪氨酸激酶基因融合。

Modern Pathology
IF5.5
2025-10-080
PRE
Grant M. Fischer; Harrison K. Tsai; Jennifer Huang; Mark C. Mochel; Sam Sadigh; Zenggang Pan; Meagan Montesion; Erik A. Williams; Mark Sabbagh; Paolo Chetta; Va Lip; Judith A. Ferry; Julie D.R. Reimann; Lyn Duncan; Steven Chen; Thomas Kupper; Marilyn G. Liang; Lynda M. Vrooman; Jessica Pollard; Dimitra Pouli; Mark D. Fleming; Birgitta Schmidt; Marian H. Harris; Jacob R. Bledsoe
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

通过对超过6,500个罕见病家庭的外显子组和基因组测序数据进行系统分析，实现了线粒体DNA变异的检测，从而解决了未确诊病例。

Human Genetics and Genomics Advances
IF3.6
2025-04-150
OAAI
Sarah L. Stenton; Kristen Laricchia; Nicole J. Lake; Sushma Chaluvadi; Vijay Ganesh; Stephanie DiTroia; Ikeoluwa Osei-Owusu; Lynn Pais; Emily O’Heir; Christina Austin-Tse; Melanie O’Leary; Mayada Abu Shanap; Chelsea Barrows; Seth Berger; Carsten G. Bönnemann; Kinga M. Bujakowska; Dean R. Campagna; Alison G. Compton; Sandra Donkervoort; Mark D. Fleming; Anne O’Donnell-Luria
X-linked sideroblastic anemia in females

X-连锁铁粒幼细胞贫血（女性）

BLOOD
IF23.1
2025-02-050
PRE
Ducamp, Sarah; Campagna, Dean R.; Sendamarai, Anoop K.; Schmidt, Paul J.; Tsai, Harrison K.; Heeney, Matthew M.; Bottomley, Sylvia S.; Fleming, Mark D.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-05-017
OAAI
Lemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R.; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O'Heir, Emily; Ganesh, Vijay S.; Wojcik, Monica H.; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L.; Neil, Jennifer E.; Shao, Diane D.; Walsh, Christopher A.; Argilli, Emanuela; Le, Carolyn; Sherr, Elliott H.; Gleeson, Joseph G.; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G.; Madden, Jill A.; Genetti, Casie A.; Beggs, Alan H.; Agrawal, Pankaj B.; Bujakowska, Kinga M.; Place, Emily; Pierce, Eric A.; Donkervoort, Sandra; Boennemann, Carsten G.; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong Yang; White, Susan M.; Toepf, Ana; Straub, Volker; Fleming, Mark D.; Pollak, Martin R.; Ounap, Katrin; Pajusalu, Sander; Donald, Kirsten A.; Bruwer, Zandre; Ravenscroft, Gianina; Laing, Nigel G.; MacArthur, Daniel G.; Rehm, Heidi L.; Talkowski, Michael E.; Brand, Harrison; O'Donnell-Luria, Anne
Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells
NATURE GENETICS
IF31.8
2023-06-2917
OA
Lareau, Caleb A.; Dubois, Sonia M.; Buquicchio, Frank A.; Hsieh, Yu-Hsin; Garg, Kopal; Kautz, Pauline; Nitsch, Lena; Praktiknjo, Samantha D.; Maschmeyer, Patrick; Verboon, Jeffrey M.; Gutierrez, Jacob C.; Yin, Yajie; Fiskin, Evgenij; Luo, Wendy; Mimitou, Eleni P.; Muus, Christoph; Malhotra, Rhea; Parikh, Sumit; Fleming, Mark D.; Oevermann, Lena; Schulte, Johannes; Eckert, Cornelia; Kundaje, Anshul; Smibert, Peter; Vardhana, Santosha A.; Satpathy, Ansuman T.; Regev, Aviv; Sankaran, Vijay G.; Agarwal, Suneet; Ludwig, Leif S.
Emi1 Maintains Genomic Integrity during Zebrafish Embryogenesis and Cooperates with p53 in Tumor Suppression

Emi1在斑马鱼胚胎发生过程中维持基因组完整性，并与p53协同抑制肿瘤

MOLECULAR AND CELLULAR BIOLOGY
IF2.7
2023-03-2132
OAAI
Rhodes, Jennifer; Amsterdam, Adam; Sanda, Takaomi; Moreau, Lisa A.; McKenna, Keith; Heinrichs, Stefan; Ganem, Neil J.; Ho, Karen W.; Neuberg, Donna S.; Johnston, Adam; Ahn, Yebin; Kutok, Jeffery L.; Hromas, Robert; Wray, Justin; Lee, Charles; Murphy, Carly; Radtke, Ina; Downing, James R.; Fleming, Mark D.; MacConaill, Laura E.; Amatruda, James F.; Gutierrez, Alejandro; Galinsky, Ilene; Stone, Richard M.; Ross, Eric A.; Pellman, David S.; Kanki, John P.; Look, A. Thomas

研究方向

暂未获取到该数据
P
Péter Gloviczki
H 指数:102论文数:1,016被引数:3.7万
G
Gustavo S. Oderich
H 指数:66论文数:554被引数:1.5万
T
Thomas C. Bower
H 指数:74论文数:618被引数:1.7万
A
Audra A. Duncan
H 指数:43论文数:211被引数:6,114
M
Manju Kalra
H 指数:46论文数:278被引数:7,549
D
Dean R. Campagna
H 指数:30论文数:82被引数:5,900
P
Paul J. Schmidt
H 指数:54论文数:461被引数:1.3万
R
Randall R. DeMartino
H 指数:33论文数:323被引数:3,525
M
Matthew M. Heeney
H 指数:39论文数:187被引数:6,862
A
Akiko Shimamura
H 指数:58论文数:237被引数:1.5万