Michael D. Stone - Publications, H-index & Citations

Michael D. Stone

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41H指数

178论文数

6.0K被引数

收录论文 50

发表时间

A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved DEGS1基因的一个新型剪接位点变异导致异常剪接和DEGS1酶活性丧失，该变异为意义不明的变异（VUS）

Human Genetics

IF3.6

2026-05-06

OAAI

Holly C. Beale; Victor Tse; Joanna Y. Lee; Jon Akutagawa; Yusuph Mavura; Brandon Saint-John; Allison Cheney; Dennis R. Mulligan; Guillermo Chacaltana; Martin Gutierrez; Jessica Tenney; Joseph T. Shieh; Pierre-Marie Martin; Tiffany Yip; Ugur Hodoglugil; Alex J. Fay; Angela N. Brooks; Jessica Van Ziffle; Michael D. Stone; Neil Risch; Jeremy R. Sanford; Patrick Devine; Julie D. Saba; Olena M. Vaske; Anne Slavotinek

Therapeutic 6-thio-deoxyguanosine inhibits telomere elongation in cancer cells by inducing a non-productive stalled telomerase complex 治疗性6-硫代脱氧鸟苷酸通过诱导非生产性停滞的端粒酶复合物来抑制癌细胞中的端粒延长

Nature Communications

IF15.7

2025-12-07

OAAI

Samantha L. Sanford; Mareike Badstübner; Michael Gerber; William Mannherz; Noah Lampl; Rachel Dannenberg; Angela Hinchie; Matthew A. Schaich; Sua Myong; Mark Hedglin; Suneet Agarwal; Jonathan K. Alder; Michael D. Stone; Patricia L. Opresko

Real-world effectiveness of upadacitinib for perianal Crohn's disease: A multi-center retrospective study

JOURNAL OF CROHNS & COLITIS

IF8.7

2025-01-22

PREAI

Devi, J.; Quraishi, B.; Dev, B.; Kline, M.; Jaiprada, F.; Huang, K.; Khan, A.; Alanazi, S.; Seeraj, A. A.; Maas, L.; Jajoo, A.; Chowla, N.; Stone, M.; Patel, A.; Xu, A.; Shukla, R.; Bishu, S.; Johnson, A. L.; Parian, A.; Yarur, A.; Mccurdy, J.; Mcdonald, B. D.; Wong, S. Y.; Deepak, P.

A retrospective audit with subsequent cost and environmental analysis of a denosumab self-injection program

JBMR PLUS

IF2.4

2024-07-17

OAAI

Boylan, Jack; Turton, Jane; Hicks, Zoe; Cottam, Julia; Stone, Michael

An intronic RNA element modulates Factor VIII exon-16 splicing

NUCLEIC ACIDS RESEARCH

IF13.1

2023-11-14

OAAI

Tse, Victor; Chacaltana, Guillermo; Gutierrez, Martin; Forino, Nicholas M.; Jimenez, Arcelia G.; Tao, Hanzhang; Do, Phong H.; Oh, Catherine; Chary, Priyanka; Quesada, Isabel; Hamrick, Antonia; Lee, Sophie; Stone, Michael D.; Sanford, Jeremy R.

Real-time detection of human telomerase DNA synthesis by multiplexed single-molecule FRET

BIOPHYSICAL JOURNAL

IF3.1

2023-09-01

PREAI

Hentschel, Jendrik; Badstubner, Mareike; Choi, Junhong; Bagshaw, Clive R.; Lapointe, Christopher P.; Wang, Jinfan; Jansson, Linnea I.; Puglisi, Joseph D.; Stone, Michael D.

Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism

JOURNAL OF BONE AND MINERAL RESEARCH

IF5.9

2023-02-23

OAAI

Hassan, Neelam; Gregson, Celia L. L.; Tang, Haotian; van der Kamp, Marc; Leo, Paul; McInerney-Leo, Aideen M.; Zheng, Jie; Brandi, Maria Luisa; Tang, Jonathan C. Y.; Fraser, William; Stone, Michael D.; Grundberg, Elin; Brown, Matthew A.; Duncan, Emma L.; Tobias, Jonathan H.

RNA:RNA interaction in ternary complexes resolved by chemical probing

RNA

IF5

2022-12-20

OAAI

Banijamali, Elnaz; Baronti, Lorenzo; Becker, Walter; Sajkowska-Kozielewicz, Joanna J.; Huang, Ting; Palka, Christina; Kosek, David; Sweetapple, Lara; Mueller, Juliane; Stone, Michael D.; Andersson, Emma R.; Petzold, Katja

The Processivity of Telomerase: Insights from Kinetic Simulations and Analyses

MOLECULES

IF4.6

2021-12-13

OAAI

Bagshaw, Clive R.; Hentschel, Jendrik; Stone, Michael D.

Cryo-EM structures tell a tale of two telomerases

NATURE STRUCTURAL & MOLECULAR BIOLOGY

IF10.1

2021-05-28

PREAI

Forino, Nicholas M.; Hentschel, Jendrik; Stone, Michael D.

Folding heterogeneity in the essential human telomerase RNA three-way junction

RNA

IF5

2020-08-19

OAAI

Palka, Christina; Forino, Nicholas M.; Hentschel, Jendrik; Das, Rhiju; Stone, Michael D.

Clinical Guidelines on Paget's Disease of Bone

JOURNAL OF BONE AND MINERAL RESEARCH

IF5.9

2019-10-25

OAAI

Ralston, Stuart H.; Corral-Gudino, Luis; Cooper, Cyrus; Francis, Roger M.; Fraser, William D.; Gennari, Luigi; Guanabens, Nuria; Javaid, M. Kassim; Layfield, Robert; O'Neill, Terence W.; Russell, Robert Graham G.; Stone, Michael D.; Simpson, Keith; Wilkinson, Diana; Wills, Ruth; Zillikens, M. Carola; Tuck, Stephen P.

Single-Molecule Analysis of Reverse Transcriptase Enzymes

cold spring harbor perspectives in medicine

IF8.4

2019-09-03

OAAI

Jansson, Linnea I.; Stone, Michael D.

Telomere DNA G-quadruplex folding within actively extending human telomerase 端粒DNA G-四链体在积极延伸的人类端粒酶中的折叠

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2019-04-24

100

OAAI

Jansson, Linnea I.; Hentschel, Jendrik; Parks, Joseph W.; Chang, Terren R.; Lu, Cheng; Baral, Rishika; Bagshaw, Clive R.; Stone, Michael D.

Diagnosis and Management of Paget's Disease of Bone in Adults: A Clinical Guideline

JOURNAL OF BONE AND MINERAL RESEARCH

IF5.9

2019-02-25

119

OAAI

Ralston, Stuart H.; Corral-Gudino, Luis; Cooper, Cyrus; Francis, Roger M.; Fraser, William D.; Gennari, Luigi; Guanabens, Nuria; Javaid, M. Kassim; Layfield, Robert; O'Neill, Terence W.; Russell, R. Graham G.; Stone, Michael D.; Simpson, Keith; Wilkinson, Diana; Wills, Ruth; Zillikens, M. Carola; Tuck, Stephen P.

A closer look at human telomerase

NATURE

IF48.5

2018-04-25

PREAI

Stone, Michael D.

Direct observation of nucleic acid binding dynamics by the telomerase essential N-terminal domain

NUCLEIC ACIDS RESEARCH

IF13.1

2018-02-21

OAAI

Shastry, Shankar; Steinberg-Neifach, Olga; Lue, Neal; Stone, Michael D.