Results 171 to 180 of about 1,021,105 (352)

Genetic diagnosis of inborn errors of immunity using clinical exome sequencing [PDF]

, 2023
Soon Sung Kwon, Youn Keong Cho, Seung Min Hahn, Jiyoung Oh, Dongju Won, Saeam Shin, Ji‐Man Kang, Jong Gyun Ahn, Seung‐Tae Lee, Jong Rak Choi   +9 more
openalex   +1 more source

TP53 R249S mutation in hepatic organoids captures the predisposing cancer risk

Hepatology, EarlyView., 2022
The systematic approach in elucidating the gain‐of‐function (GOF) roles of TP53 mutations in early liver carcinogenesis. Unique downstream targets of TP53 L3 mutations were identified from chormatin immunoprecipitation sequencing in HCC cell lines, followed by a series of validation assays to substantiate the exclusive transcriptional regulations ...
Yin Kau Lam, Jianqing Yu, Hao Huang, Xiaofan Ding, Alissa M. Wong, Howard H. Leung, Anthony W. Chan, Kelvin K. Ng, Mingjing Xu, Xin Wang, Nathalie Wong   +10 more
wiley   +1 more source

Molecular Characterization of Colorectal Signet-Ring Cell Carcinoma Using Whole-Exome and RNA Sequencing

, 2018
Jae‐Yong Nam, Bo Young Oh, Hye Kyung Hong, Joon Seol Bae, Tae Won Kim, Sang Yun Ha, Donghyun Park, Woo Yong Lee, Hee Cheol Kim, Seong Hyeon Yun, Yoon Ah Park, Je‐Gun Joung, Woong‐Yang Park, Yong Beom Cho   +13 more
openalex   +1 more source

56 Improved next generation sequencing based class I HLA typing through exome enhancement

, 2020
Lee McDaniel, Rachel Marty Pyke, Charles W. Abbott, Gábor Bartha, John West, Richard Chen, Seán Boyle   +6 more
openalex   +1 more source

“To Me, It Was Significant”: The Ethics of Returning Variants of Uncertain Significance from Clinical Exome Sequencing

, 2018
Kristin Clift, Colin Halverson, Jennifer B. McCormick   +2 more
openalex   +1 more source

P1.01-42 Whole-Exome Sequencing Identifies Novel Somatic Mutations Associated with Prognosis in Lung Cancer Metastatic to the Brain [PDF]

, 2019
Chunxia Su, X. Li, Chao Zhao, Jing Zhao
openalex   +1 more source

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson, Stephanie Hyunh, Bojana Rakic, Cornelius Boerkoel   +3 more
wiley   +1 more source

Predicting valuable missense variants with AlphaMissense in a multiple pulmonary infection patient

Clinical Case Reports
Key Clinical Message AlphaMissense is proficient in predicting the clinical classification of missense variants. we utilized AlphaMissense to find disease‐relevant variants within a polymicrobial pulmonary infection case.
Tianyuan Wang, Jindi Ma, Yuan Shu, Bao Hong, Zhouhan Wang, Yingfeng Lu, Xiaopeng Yu, Xi Huang, Yimin Zhang   +8 more
doaj   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Whole Exome Sequencing Identified a Stop‐Gained Mutation in DYSF Gene Associated With Dysferlinopathy in an Iranian Family [PDF]

Saba Baghshomali, Asiyeh Jebelli, Mina Kazemzadeh, Farzaneh Jalalypour, Mohammad Yazdchi, Ahad Mokhtarzadeh, Leila Emrahi   +6 more
openalex   +1 more source