Results 281 to 290 of about 1,021,105 (352)

Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf–Yang Syndrome and the Importance of Paternal Allele Confirmation

Journal of Clinical Laboratory Analysis, EarlyView.
This study reports a de novo MAGEL2 pathogenic variant in a patient with Schaaf–Yang syndrome, confirmed through methylation‐sensitive analysis. Combining genomic sequencing with methylation assays helps accurately determine the parental origin of MAGEL2 mutations.
Youn‐Ji Hong, Misun Yang, Hyeon Jeong Kwon, Jooyoung Cha, Ja‐Hyun Jang, Sung Eun Wang, Eun Sun Lee, Mi‐Ae Jang   +7 more
wiley   +1 more source

Application of family whole-exome sequencing for prenatal diagnosis-an analysis of 357 cases. [PDF]

Front Med (Lausanne)
Ge Y, Yuan H, Yu Y, Xiao J, Liu D, Peng Y, Liu Y, Huang S, Yang B, Zou Y, Liu Y.   +10 more
europepmc   +1 more source

Genetic Insights into Chronic Kidney Disease through Whole Exome Sequencing of South Indian Patients: A Pilot study

Ragulraja Sivakumar, Pantchacharam Radhakrishnan, Aishwaryalakshmi Muthukannan, Vardhani Thimma Gopalram, Joy Wilson, Karthikeyan Ravi, Vandit Sevak, Krishnaswamy Sampathkumar, K. Balakrishnan, Jayalakshmi Mariakuttikan   +9 more
openalex   +1 more source

Small Nucleotide Variant Analysis Using RNA Fusion Panel (SMURF): Making the Most of RNAseq Data in Solid Tumours

Journal of Clinical Laboratory Analysis, EarlyView.
RNA‐based fusion panels using targeted next‐generation sequencing of formalin‐fixed paraffin‐embedded (FFPE) tumour tissue specimens have been used for a few years from patients with various tumour types to detect rearrangements/fusions. Using the bioinformatic approaches the data obtained from RNA sequencing (RNAseq) can also be used for small ...
Pranav Dorwal, Julie Robin, Broden Krause, Patricia Pyrchla, Bin Yuan, Robert Quach, Anna Fong Na Goh, Pamela Htain, Noel Djitro, Amit Kumar, Liyan Song, Priscillia Siswara, Suzanne Svobodova, Peter Kaub, Beena Kumar   +14 more
wiley   +1 more source

Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes. [PDF]

Hum Genet
Marianski K, Talcott JB, Stein J, Monaco AP, Fisher SE, Bishop DVM, Newbury DF, Paracchini S.   +7 more
europepmc   +1 more source

Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer [PDF]

Ed Dicks, Jonthan P. Tyrer, Suzana Ezquina, Michelle R. Jones, John Baierl, Pei-Chen Peng, Michael Diaz, Ellen L. Goode, Stacey J. Winham, Thilo Dörk, Toon Van Gorp, Ana De Fazio, David D.L. Bowtell, Kunle Odunsi, Kirsten Moysich, Marina Pavanello, Ian Campbell, James D. Brenton, Susan J. Ramus, Simon A. Gayther, Paul D.P. Pharoah   +20 more
openalex   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Whole exome sequencing in fetal cardiac rhabdomyoma detected by ultrasonography: an analysis of 12 cases. [PDF]

BMC Pregnancy Childbirth
Liu J, He J, Tang W, Chen J, Luo Y, Li H, Li Z, Wu L.   +7 more
europepmc   +1 more source

Transforming healthcare with large language models: Current applications, challenges, and future directions—a literature review

Journal of Intelligent Medicine, EarlyView.
Abstract AI‐based large language models (LLMs) have gradually made their way into various fields, transforming industries and changing the way we solve problems. LLMs have great potential in healthcare, where they can share the burden of data management, retrieval, and decision‐making.
Muhammad Umar, Vanessa Ali, Laiba Shamim, Imshaal Musharaf, Rabia Hafsa, Muhammad Umar Ahsan, Osama Ahmad, Lamea Bint Sabhan, Muhammad Saeed, Somaiya Ahmed, Sana Iftikhar, Noor Ul Ain   +11 more
wiley   +1 more source

Clinical utility of exome sequencing in hearing loss: a retrospective cohort study. [PDF]

Front Genet
Liu C, Huang Y, Fu A, Wang Y, Wu J, Zhang Y, Du L, Ding H, Yu L, Li F, Qi Y, Liu Y, Wang X, Zeng Y, Liu L, Xiong Y, Liu Y, Zhao X, Fang L, Jian J, Yin A, You Y.   +21 more
europepmc   +1 more source