Shihui Yu

发表

R. Shprintzen, W. Graf, Shihui Yu, 2012, Current opinion in pediatrics.

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project

H. Zheng, Jinchen Li, B. Tang, 2021, Nature Communications.

1.39 Mb inherited interstitial deletion in 12p13.33 associated with developmental delay.

D. Bittel, A. Abdelmoity, John J. Hall, 2011, European journal of medical genetics.

Postnatal Identification of Trisomy 21: An Overview of 7,133 Postnatal Trisomy 21 Cases Identified in a Diagnostic Reference Laboratory in China

Menghua Wu, Shihui Yu, Shuai Jiang, 2015, PloS one.

Robertsonian Translocations: An Overview of 872 Robertsonian Translocations Identified in a Diagnostic Laboratory in China

Menghua Wu, Chunhua Deng, Shihui Yu, 2015, PloS one.

Genomic analyses of 10,376 individuals provides comprehensive map of genetic variations, structure and reference haplotypes for Chinese population

G. Tian, H. Zheng, Jinchen Li, 2021, bioRxiv.

Ultra High-Resolution Gene Centric Genomic Structural Analysis of a Non-Syndromic Congenital Heart Defect, Tetralogy of Fallot

D. Bittel, N. Kibiryeva, J. O’Brien, 2014, PloS one.

Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease

H. Kilbride, Shihui Yu, D. Zwick, 2010, American journal of medical genetics. Part A.

A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family

Fang Cheng, Huiping Yuan, Shihui Yu, 2011, Molecular vision.

Chapter 13 – Cerebral Malformations

W. Graf, Shihui Yu, 2015 .

Validation of the Agilent 244K oligonucleotide array-based comparative genomic hybridization platform for clinical cytogenetic diagnosis.

D. Bittel, N. Kibiryeva, L. Cooley, 2009, American journal of clinical pathology.

Genomic profile of copy number variants on the short arm of human chromosome 8

Andrew L Stegner, W. Graf, Shihui Yu, 2010, European Journal of Human Genetics.

Cardiac Defects Are Infrequent Findings in Individuals With 8p23.1 Genomic Duplications Containing GATA4

Shihui Yu, J. Joyce, Hong-yu Liu, 2011, Circulation. Cardiovascular genetics.

Parallel Analyses of Somatic Mutations in Plasma Circulating Tumor DNA (ctDNA) and Matched Tumor Tissues in Early-Stage Breast Cancer

Xiaoyan Tang, D. Pang, Dalin Li, 2019, Clinical Cancer Research.

Quantitative real-time polymerase chain reaction for the verification of genomic imbalances detected by microarray-based comparative genomic hybridization.

D. Bittel, N. Kibiryeva, L. Cooley, 2009, Genetic testing and molecular biomarkers.

16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders

A. Ramalingam, Shihui Yu, J. Joyce, 2011, Journal of Human Genetics.

Complex Congenital Heart Defects in Association with Maternal Diabetes and Partial Deletion of the A2BP1 Gene

Atif A Ahmed, S. Lale, Shihui Yu, 2011, Fetal and pediatric pathology.

A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genes

D. Bittel, W. Graf, Shihui Yu, 2010, American journal of medical genetics. Part A.

An interstitial 15q11‐q14 deletion: Expanded Prader‐Willi syndrome phenotype

M. Butler, D. Bittel, N. Kibiryeva, 2010, American journal of medical genetics. Part A.

Mutation Spectrum of EGFR From 21,324 Chinese Patients With Non-Small Cell Lung Cancer (NSCLC) Successfully Tested by Multiple Methods in a CAP-Accredited Laboratory

Yuanxiao Tang, Yanyan Xu, Shihui Yu, 2021, Pathology & Oncology Research.

Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex

Yuhuan Meng, H. Yan, Shihui Yu, 2020, Journal of Human Genetics.

Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome

Denise Daley, Moira Chan-Yeung, Reza Alizadehfar, 2013, European Journal of Human Genetics.

Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM)

Rongchang Chen, N. Zhong, Shiyue Li, 2019, PloS one.

15q11.2 Proximal Imbalances Associated With a Diverse Array of Neuropsychiatric Disorders and Mild Dysmorphic Features

S. Soden, A. Abdelmoity, Shihui Yu, 2012, Journal of developmental and behavioral pediatrics : JDBP.

BRAF Gene Deletion Broadens the Clinical Spectrum Neuro-Cardio-Facial-Cutaneous Syndromes

W. Graf, Shihui Yu, 2011, Journal of child neurology.

Erratum to: An Interstitial 15q11–q14 Deletion: Expanded Prader–Willi Syndrome Phenotype (DOI 10.1002/ajmg.a.33197; Am J Med Genet Part A 152A:404–408)

M. Butler, D. Bittel, N. Kibiryeva, 2010 .

Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH

M. Butler, D. Bittel, N. Kibiryeva, 2009, Cytogenetic and Genome Research.

Cardiac Defects Are Infrequent Findings in Individuals With 8p23.1 Genomic Duplications Containing GATA4

Shihui Yu, J. Joyce, Hong-yu Liu, 2011, Circulation. Cardiovascular genetics.