Results 281 to 290 of about 178,713 (349)

Studying rare variant polygenic risk scores using whole exome sequencing and imputed genotype data. [PDF]

Commun Biol
Kang JO, Kwon SY, Jung HU, Jung H, Lim JE, Oh B.   +5 more
europepmc   +1 more source

FTH1‐Related Neuroferritinopathy: A Rare Form of Neurodegeneration with Brain Iron Accumulation Mimicking Pontocerebellar Hypoplasia

Movement Disorders Clinical Practice, EarlyView.
Sayoni Roy Chowdhury, Sangeetha Yoganathan, Vivek Pai, Andrea LeBlanc‐Millar, Vann Chau, Roberto Mendoza‐Londono, Lucie Dupuis, Carolina Gorodetsky   +7 more
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Whole-exome sequencing and burden analysis identify six novel candidate risk genes and expand the genetic landscape of Parkinson's disease. [PDF]

NPJ Parkinsons Dis
Fan Y, Hu Z, Yan QQ, Wan JJ, Liu J.
europepmc   +1 more source

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

Unravelling homozygous PLA2G6 variants in Pakistani individuals with diverse clinical manifestations via whole exome sequencing. [PDF]

BMC Med Genomics
Khan H, Zahid M, Shabbir MI, Ahmed A, Khan B, Kiyani MM, Abualait T, Bashir S, Li HT.   +8 more
europepmc   +1 more source

Whole exome sequencing the dog

, 2015
Broeckx, Bart, Hitte, Christophe, Coopman, Frank, Verhoeven, Geert, De Keulenaer, Sarah, De Meester, Ellen, Derrien, Thomas, Alfoldi, Jessica, Lindblad-Toh, Kerstin, Bosmans, Tim, Bavegems, Valérie, Gielen, Ingrid, van Bree, Henri, Van Ryssen, Bernadette, Saunders, Jimmy, Van Nieuwerburgh, Filip, Deforce, Dieter   +16 more
openaire   +1 more source

A STOP‐Gain RNF213 Variant Causes Chorea, Stroke‐Like Episodes, and Leigh Syndrome‐Like Encephalopathy

Movement Disorders, EarlyView.
Roberta Bovenzi, Mariasavina Severino, Jennifer Nichols, Fred Shen, Ignacio J. Keller Sarmiento, Bernabe I. Bustos, Lisa Kinsley, Dimitri Krainc, Niccolò E. Mencacci   +8 more
wiley   +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

Identifying Pathogenic Variants in Vietnamese Children with Functional Single Ventricle Based on Whole-Exome Sequencing. [PDF]

Diagnostics (Basel)
Tu LT, Lien NTK, Tung NV, Van DTH, Nga VQ, Tho NT, Hien NT, Duc NM, Hoang NH.   +8 more
europepmc   +1 more source