Results 191 to 200 of about 72,058 (269)

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+). [PDF]

Eur J Hum Genet
Rivera-Munoz EA, Zhao XE, Rosenfeld JA, Luna PN, Shaw CA, Posey JE, Scott DA.   +6 more
europepmc   +1 more source

Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES‐CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA) and karyotyping, and to delineate the practical challenges encountered ...
Yulin Jiang, Haibo Li, Xiangyu Zhu, Liangpu Xu, Ying Chang, Fengqun Dong, Jianping Xiao, Jian Gao, Minyue Dong, Ying Peng, Hua Jin, Ting Wang, Xiaoxiao Xie, Lin Zhang, Hongmei Zhuang, Na Hao, Xiya Zhou, Hongna Wang, Ying You, Kun Ma, Rui Xiao, Qingwei Qi   +21 more
wiley   +1 more source

Penetrance of interstitial lung disease and lung cancer in carriers of <i>SFTPA1</i> or <i>SFTPA2</i> pathogenic variants. [PDF]

ERJ Open Res
Ducrot L, Nathan N, Benusiglio PR, Borie R, Nuel G, Legendre M.   +5 more
europepmc   +1 more source

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner, Adi Botvinik, Adi Mory, Adi Reches, Karina Krajden Haratz, Britannia Morgan Fleming, Hagit Baris Feldman, Lena Sagi‐Dain, Mordechai Shohat, Rayna Joy Goldstein, Yuval Yaron, Michal Levy   +11 more
wiley   +1 more source

Refining rare disease variant discovery in an isolated Andean community through imputation-enhanced IBD and kinship inference from whole exome sequencing data. [PDF]

Hum Mol Genet
Gaviria-Sabogal CC, Bernal IT, Sánchez-Gómez Y, Usaquén W, Casas-Vargas A, Contreras Bravo N, Morel A, Fonseca-Mendoza DJ, Restrepo CM, Cabrera R.   +9 more
europepmc   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Optimal on-off scheduling for intermittent pumping wells under grid-connected pv systems. [PDF]

Sci Rep
Qiao M, Ren F, Li Y, Jia D.
europepmc   +1 more source

Advancing Extracellular Vesicle Research: A Review of Systems Biology and Multiomics Perspectives

PROTEOMICS, EarlyView.
ABSTRACT Extracellular vesicles (EVs) are membrane‐bound vesicles secreted by various cell types into the extracellular space and play a role in intercellular communication. Their molecular cargo varies depending on the cell of origin and its functional state.
Gloria Kemunto, Samaneh Ghadami, Kristen Dellinger   +2 more
wiley   +1 more source

The genetic architecture of gene expression regulation in a <i>Citrus x Poncirus</i> hybrid tolerant to Huanglongbing. [PDF]

Front Plant Sci
Diaz IA, Zayed O, Ávila De Dios E, Jiang C, Bowman KD, Seymour DK.   +5 more
europepmc   +1 more source