Results 221 to 230 of about 733,000 (317)

Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Congenital diaphragmatic hernia (CDH) is a rare abnormality with highly heterogeneous genetic causes. This study investigated chromosomal and monogenic abnormalities in fetal CDH patients and evaluated the efficacy of chromosomal microarray analysis (CMA) and whole‐exome sequencing (WES) for genetic diagnosis.
Yan Lü, Yi Yu, Jiazhen Chang, Mengmeng Li, Xueting Yang, Xiya Zhou, Na Hao, Hua Meng, Zhenghong Li, Lishuang Ma, Hui You, Shan Jian, Ying Wang, Shengjie Li, Yiqing Yu, Kaili Yin, Mingming Wang, Yulin Jiang, Qingwei Qi   +18 more
wiley   +1 more source

Ensemble and consensus approaches to prediction of recessive inheritance for missense variants in human disease. [PDF]

Cell Rep Methods
Petrazzini BO, Balick DJ, Forrest IS, Cho J, Rocheleau G, Jordan DM, Do R.   +6 more
europepmc   +1 more source

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear, Billie Lianoglou, Ugur Hodoglugil, W. Patrick Devine, Ashutosh Lal, Juan Gonzalez, Teresa N. Sparks   +6 more
wiley   +1 more source

Noninvasive fetal genotyping using deep neural networks. [PDF]

Brief Bioinform
Schwammenthal Y, Rabinowitz T, Basel-Salmon L, Tomashov-Matar R, Shomron N.   +4 more
europepmc   +1 more source

Genome‐Wide Cell‐Free DNA Analysis for Aneuploidy Detection in Miscarriages: Test Performance Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To conduct a systematic review and meta‐analysis of published series examining the efficacy of genome‐wide cell‐free DNA (cfDNA) testing in identifying aneuploidy in pregnancies ending in miscarriage. Methods A systematic review was conducted encompassing observational studies evaluating aneuploidy detection by genome‐wide cfDNA ...
Montse Pauta, Raigam J. Martinez‐Portilla, Ana Cecilia Jara‐Ettinger, Victoria Ardiles‐Ruesjas, Antoni Borrell   +4 more
wiley   +1 more source

SV4GD: a comprehensive structural variation database specially for genetic diseases. [PDF]

Nucleic Acids Res
Shi L, Zhang S, Li Y, Li H, Wang X, Du M, Zhang M, Ke L, Zhang Y, Xu C, Tan S, Zhang Z, Zhang D, Wang J, Qi C, Liu X, Wang X, Qian K, Cheng L, Zhang X.   +19 more
europepmc   +1 more source

Germline Testing for Prostate Cancer Patients: Evidence‐Based Evaluation of Genes Recommended by NCCN Guidelines

The Prostate, EarlyView.
ABSTRACT Background Approximately 50% of prostate cancer (PCa) patients meet the National Comprehensive Cancer Network (NCCN) guidelines for germline testing at diagnosis. However, the selection of genes for testing, their supporting evidence, and clinical interpretation remain poorly understood.
Jianfeng Xu, Jim Lu, Marta Gielzak, S. Lilly Zheng, Lucy Lu, Jun Wei, Brandon Cornell, Zhuqing Shi, Qiang Wang, Huy Tran, Valentina Engelmann, Annabelle Ashworth, Kirk Lin, Ashley E. Ross, Patrick C. Walsh, Catherine Marshall, Jun Luo, William B. Isaacs, Brian T. Helfand, Christian P. Pavlovich   +19 more
wiley   +1 more source

Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data. [PDF]

NAR Genom Bioinform
Robertson E, Grinton BE, Oliver KL, Fearnley LG, Hildebrand MS, Sadleir LG, Scheffer IE, Berkovic SF, Bennett MF, Bahlo M.   +9 more
europepmc   +1 more source

Genetics, sex and the use of platelet-rich plasma influence the development of arthrofibrosis after anterior cruciate ligament reconstruction. [PDF]

J Exp Orthop
Sánchez M, Yarza I, Jorquera C, Aznar JM, de Dicastillo LL, Valente C, Andrade R, Espregueira-Mendes J, Celorrio D, Aizpurua B, Azofra J, Delgado D.   +11 more
europepmc   +1 more source

Photon Number Coherence in Quantum Dot‐Cavity Systems can be Enhanced by Phonons

Advanced Quantum Technologies, EarlyView.
Photon number coherence (PNC) is important for quantum cryptography. Because of that, the PNC within a quantum dot‐cavity system is investigated theoretically. Phonons, which interact with the quantum dot, surprisingly do not necessarily decrease PNC. It is demonstrated that it is possible to optimize other figures of merit without significant penalty ...
Paul C. A. Hagen, Mathieu Bozzio, Moritz Cygorek, Doris E. Reiter, Vollrath M. Axt   +4 more
wiley   +1 more source