Results 181 to 190 of about 114,077 (305)

Horizon: CNV interpretation through rapid automated ACMG-aligned pathogenicity analysis. [PDF]

Hum Genet
Eldesouky M, Shiyas S, Islam A, Hasan MN, Hossain MT, Akter H, Saiful M, Berdiev BK, Kuebler WM, Rahman P, Woodbury-Smith M, Hasan SM, Uddin M, Nassir N.   +13 more
europepmc   +1 more source

Transient Hyperparathyroidism and Severe Intrauterine Osteopenia Linked to Novel Homozygous TRPV6 Deletion

Clinical Endocrinology, EarlyView.
ABSTRACT Context Placental calcium (Ca2+) transport is essential for foetal bone mineralisation and development, as well as for Ca2+ homoeostasis. Rare mutations in transient receptor potential vanilloid (TRPV) 6 of the infant cause insufficient maternal‐foetal Ca2+ transport through the placenta.
Teodora Grigore, Quinty Leusink, Femke Latta, Bram van der Eerden, Paul de Laat, Danielle van der Kaay, Joost Hoenderop   +6 more
wiley   +1 more source

Clinical Implications and Limitations of Noninvasive Prenatal Testing for Detecting Fetal Copy Number Variations: A Multicenter Study in Shaanxi Province, China. [PDF]

Med Sci Monit
Wang H, Zhang L, Yang T, Jia Y, Liu R, Jia Z, Liu Y, Bai G.   +7 more
europepmc   +1 more source

Twelve‐Month Real‐World Outcomes of Faricimab for Treatment‐Naive Neovascular AMD in Australia

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background To provide insights into the effectiveness and safety of faricimab for treatment‐naïve eyes with neovascular age‐related macular degeneration (nAMD). Methods A retrospective cohort study using a prospectively‐designed registry. Treatment‐naïve eyes with nAMD in Australia starting treatment with faricimab between Jan 2023–Sep 2024 ...
Mark Gillies, Yohei Hashimoto, Rahman Nazari, Jennifer Arnold, Beibei Wang, Richard Barry, Ross Ferrier, Justin Game, Daniel Barthelmes   +8 more
wiley   +1 more source

ML-ExonCNV: a robust XGBoost multi-expert ensemble framework for rare exon CNV detection in whole-exome sequencing data. [PDF]

Brief Bioinform
Yang SH, He H, Hou S, Yang T, Yin Z, Zhang HY, Gu W.   +6 more
europepmc   +1 more source

Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation

Clinical Genetics, EarlyView.
Copy number variations (CNVs) in 11p15.5 account for more than 2% of the molecular disturbances in the imprinting disorders Beckwith–Wiedemann and Silver–Russell syndrome. Their size and gene content vary, and therefore the impact on the phenotype is variable. Based on published data from > 220 carriers, an overview of the pathogenicity of 11p15.5 CNVs
Anastasia Maria Licata, Elke Botzenhart, Katja Kloth‐Stachnau, Thomas Eggermann   +3 more
wiley   +1 more source

Integrated genomic and clinical indicators for predicting foetal chromosomal abnormalities: development and validation of a nomogram model. [PDF]

J Glob Health
Zhou Y, Liu P, Zhang X, Geng Q, Jia H, Wang Z, Zhou X, Li H, Zhang J, Liu C, Liu X, Kang W.   +11 more
europepmc   +1 more source

Non‐Isolated Dandy‐Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions

Clinical Genetics, EarlyView.
Exome sequencing identified a diagnosis in 35% of 91 individuals with non‐isolated Dandy Walker malformation (DWM+). Only 24%–55% of these diagnoses could be made using a gene panel. We then demonstrated that DWM is a feature of disorders associated with ANKRD11, C2CD3, COL4A1, KMT2D, KRAS, OPHN1, SHOC2, SMARCB1, and WDR73.
Sarah Araji, Xiaonan Zhao, Jill A. Rosenfeld, Seema R. Lalani, Daryl A. Scott   +4 more
wiley   +1 more source

Concordance between genome-wide cfDNA screening and diagnostic test results for large copy-number variants: a multi-site study from the Global Expanded NIPT Consortium. [PDF]

Front Genet
Soster E, Dalton K, Bonifacio M, Ellis KB, Hardy T, Heddar A, Jurkowska M, Kleinfinger P, Kulisic M, Loggenberg K, Menezes M, Mori A, Savarese G, Westover T, Bhatt S.   +14 more
europepmc   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, EarlyView.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source