Results 221 to 230 of about 290,871 (296)

Rapid Genome and Exome Sequencing in Inpatients: Clinical Impact at a Tertiary Academic Medical Center

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The objective of this study is to describe outcomes of rapid exome (rES) and rapid genome sequencing (rGS) in an inpatient setting. This is a retrospective cohort of inpatients with rES or rGS during their hospitalization between April 2016 and November 2023.
Cecilia M. Kessler, Bryce A. Schuler, Elizabeth A. Jasper, Janet Talbert, Laura Duncan, Mackenzie Mosera   +5 more
wiley   +1 more source

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe, Abbey A. Scott, Lukas Kruidenier, Jessie Conta, Darci L. Sternen, Sarah V. Clowes Candadai, Shannon M. Stasi, Julia Parish‐Morris, Megan Sikes, Margaret P. Adam, Anita E. Beck, Jennifer C. Hayek, Ian Glass, James T. Bennett, Ghayda Mirzaa, Paul Kruszka, Britt Johnson, Kirsty McWalter, Deborah Copenheaver, Bethany Friedman, Michael Bamshad, Katrina M. Dipple, Tara L. Wenger   +22 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Photoinduced Selective Construction of Densely Functionalized Spirocyclic Ethers With Carbyne Equivalents

Angewandte Chemie, EarlyView.
A reactivity programmed cascade between carbyne equivalents and allylic benzoates was developed that sequentially orchestrates all three reactivity modes of carbyne equivalents, enabling the rapid installation of three σ‐bonds at a single carbon center and providing efficient, scalable access to structurally diverse spirocyclic ethers. ABSTRACT Carbyne
Jianke Su, Chu Wang, Zhongping Cai, Jiale Wu, Xu Yan Chen, Jie Wu   +5 more
wiley   +1 more source

Active Shell Engineering for Efficient Cascade Triplet Energy Transfer in Lanthanide Heterostructures

Angewandte Chemie, EarlyView.
Active shell engineering resolves the trade‐off between surface passivation and molecular sensitization in lanthanide nanoparticles. NaYbF4@Ca0.8F2:Nd0.2@ACA heterostructures transform inert shells into energy conduits, enabling cascade triplet transfer with near‐unity efficiency.
Zhao Jiang, Alasdair Tew, Xinjuan Li, Huangtianzhi Zhu, Yunzhou Deng, Caterina Ducati, Zhongzheng Yu, Akshay Rao   +7 more
wiley   +1 more source

Yb2‐Tb Upconversion in a Hetero‐Trimetallic Molecular Lanthanide Complex

Angewandte Chemie, EarlyView.
Lanthanides are at the forefront of photon upconversion in molecular systems; however, the chemical nature of the lanthanides makes site‐specific coordination chemistry difficult to achieve. Here, we employ kinetically stabile building blocks to achieve hetero‐trimetallic 4f complexes with complete site‐specific chemical control.
Nicolaj Kofod, Matthew E. Thornton, Abigail Richardson, Charles Smith, Sabina Gurung, Patrick Parkinson, Stephen Faulkner, Sam Hay, Louise S. Natrajan   +8 more
wiley   +1 more source

Controlling the fate of two triplet states: solid-state annihilator design for photon upconversion. [PDF]

Chem Sci
Isokuortti J, Nienhaus L.
europepmc   +1 more source

Stabilization of the Benzene Radical Trianion in an Inverse‐Sandwich Yttrium Complex

Angewandte Chemie, EarlyView.
A new type of benzene anion state is born: The unprecedented benzene radical trianion embedded in an inverse‐sandwich yttrium complex was synthesized by a one‐electron chemical reduction of its benzene dianion precursor using potassium graphite in the presence of [2.2.2]‐cryptand.
Weiqing Mao, Saroshan Deshapriya, Shenglai Yao, Christian Lorent, Matthias Driess, Selvan Demir   +5 more
wiley   +1 more source

Hyperpolarization of Molecular Deuterium

Angewandte Chemie, EarlyView.
Hyperpolarized molecular deuterium is generated and detected using a nonhydrogenative SABRE catalyst with nicotinamide. The resonance shows a strongly enhanced partially negative line, substrate‐dependent and sensitive to transient intermediates.
Theresa L. K. Hune, Anakin Aden, Julius F. Matz, Denis Moll, Ilya Kuprov, Stefan Glöggler   +5 more
wiley   +1 more source

Triplet Energy Transfer as a Handle to Tune 1,2-Dialkyldiazene Fragmentation in Radical C(sp³)-C(sp²) Cross-Coupling. [PDF]

J Am Chem Soc
Scriven J, Chattapadhyay D, Glaser F, Elias B, Michaudel Q, Troian-Gautier L.   +5 more
europepmc   +1 more source