Results 191 to 200 of about 1,021,105 (352)

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Whole Exome Sequencing of a Multiplex Family of Indian Origin Identifies Variants in the RAI1 and FLII Genes within the 17p11.2 Region in Siblings with Autism and Smith Magenis Syndrome [PDF]

Durbagula Srividhya, V. P. Snijesh, Ranganayaki Sathyanarayanan, Aparna Huligerepura Sosalegowda, Aruna Korlimarla, Ashitha S. Niranjana Murthy, Nishanth Prabhakaran, Meghana Vijayanand, Naveen Kumar Chandappa Gowda   +8 more
openalex   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

The importance of dynamic reanalysis In diagnostic whole exome sequencing [PDF]

, 2016
Goldstein, DB, Need, AC, Petrovski, SP, Schoch, K, Shashi, V   +4 more
core   +1 more source

Compound Heterozygosity in PGAP3 Causing Mabry Syndrome in a South African Patient

American Journal of Medical Genetics Part A, EarlyView.
Carli Loubser, Shahida Moosa
wiley   +1 more source

Incidence and Prevalence of Congenital Myopathies ‐ A Population‐Based Study From Western Sweden

Annals of Neurology, EarlyView.
Objective Congenital myopathies are a group of rare genetic muscle disorders. Previous studies have estimated point prevalences which only include surviving individuals. Our aim was to perform an epidemiological study with strict inclusion criteria, using modern diagnostic technology to present both incidences and prevalences, and to describe the ...
Eva Michael, Carola Hedberg‐Oldfors, Mar Tulinius, Sara Nordström, Anders Oldfors, Niklas Darin   +5 more
wiley   +1 more source

RNA Sequencing for Rare Disease Diagnosis in a South African Family: A Novel Exon Elongation Event in OFD1

American Journal of Medical Genetics Part A, EarlyView.
Jana van der Westhuizen, Vicente A. Yépez, Shahida Moosa   +2 more
wiley   +1 more source

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

Annals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source

Comprehensive Prenatal Genetic Analysis: From Non-Invasive Prenatal Testing to Whole-Exome Sequencing in a High-Risk Pregnancy with Gaucher Disease—A Case Report and Literature Review [PDF]

Ileana-Delia Săbău, Laurențiu Camil Bohîlțea, Mihaela Țurcan, Adelina Silvana Gheorghe, Maria Riza, Mihai Mitroi, Antoanela Curici, Iuliana Ceauşu   +7 more
openalex   +1 more source

Electronic Health Records to Test Multimorbidity Influences to Plasma Biomarker Interpretation for Alzheimer's Disease

Annals of Neurology, EarlyView.
Objective Plasma biomarkers of Alzheimer's disease (AD) pathology are frequently tested in specialized research settings, which limits the generalizability of findings. Using electronic health records and banked plasma, we evaluated plasma biomarkers—phosphorylated tau 217 (p‐tau217), β‐amyloid 1–42/1–40 (Aβ42/Aβ40) and p‐tau217/Aβ42—in a real‐world ...
Katheryn A.Q. Cousins, Rory Boyle, Colleen Morse, Anurag Verma, Christopher A. Brown, Kyra S. O'Brien, Marina Serper, Nadia Dehghani, Penn Medicine BioBank, Corey T. McMillan, Edward B. Lee, Leslie M. Shaw, David A. Wolk   +12 more
wiley   +1 more source