Cuiping Hou

Children's Hospital of Philadelphia — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

41h-index11.1kcitations98works0.32yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(21), Neuroblastoma Research and Treatments(16), Genetic Associations and Epidemiology(15), Genetics and Neurodevelopmental Disorders(9), Cancer, Hypoxia, and Metabolism(8)

Publications98 total

Sex specific genomic insights into type 1 diabetes through GWAS and single cell transcriptome analysis
Diabetes Research and Clinical Practice·2026Open Access
Genetic susceptibility to PM2.5 exposure and transcriptional responses in pediatric asthma: insights from single-cell transcriptomics
Frontiers in Immunology·2026Open Access
Single vs dual genetic disease in children with congenital anomalies and solid tumors
Genetics in Medicine Open·2026Open Access
Natural killer cell subpopulations in the peripheral blood of single ventricle/hypoplastic left heart syndrome patients via single-cell RNA sequencing
Experimental Biology and Medicine·2025Open Access
Single‐Cell RNA Sequencing of Peripheral Blood Mononuclear Cells in Patients With Single Ventricle/Hypoplastic Left Heart Syndrome
The Journal of Gene Medicine·2025Open Access
Sex Specific Genomic Insights into Type 1 Diabetes through GWAS and Single Cell Transcriptome Analysis
2025· 1 citedOpen Access
Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndrome
European Journal of Human Genetics·2025Open Access
Rhinal cortices are critical for learning novel associations through the‘Fast-Mapping’ paradigm: evidence from three neuropsychological casereports
Open Repository and Bibliography (University of Liège)·2025
Recurrent small variants in NESP55/NESPAS associated with broad GNAS methylation defects and pseudohypoparathyroidism type 1B
JCI Insight·2024· 2 citedOpen Access
Abstract 4140702: Sex Differences Revealed by Single Cell Transcriptome Analysis of Peripheral Blood Mononuclear Cells in Single Ventricle/Hypoplastic Left Heart Patients
Circulation·2024
Single-cell RNA Sequencing of Peripheral Blood Mononuclear Cells in Patients with Single Ventricle/Hypoplastic Left Heart Syndrome
2024· 1 citedOpen Access
Characterization of Natural Killer Cell Subpopulations in the Blood of Single Ventricle/Hypoplastic Left Heart Syndrome Patients Using Single-Cell RNA Sequencing
2024Open Access
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Journal of Clinical Investigation·2023· 41 citedOpen Access
Genomic profiling informs diagnoses and treatment in vascular anomalies
Nature Medicine·2023· 55 citedOpen Access
Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition
JCI Insight·2023· 34 citedOpen Access
Single Cell Transcriptome Analysis of Peripheral Blood Mononuclear Cells in Freshly Isolated versus Stored Blood Samples
Genes·2023· 9 citedOpen Access
Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism
Molecular Cytogenetics·2022· 10 citedOpen Access
Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis
Arthritis & Rheumatology·2022· 7 citedOpen Access
Further supporting <scp><i>SMARCC2</i></scp>‐related neurodevelopmental disorder through exome analysis and reanalysis in two patients
American Journal of Medical Genetics Part A·2021· 7 cited
A novel <scp><i>MBTPS2</i></scp> variant associated with <scp>BRESHECK</scp> syndrome impairs <scp>sterol‐regulated</scp> transcription and the endoplasmic reticulum stress response
American Journal of Medical Genetics Part A·2021· 5 citedOpen Access
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Frequent Co-authors

Håkon Håkonarson(42), Joseph Glessner(27), Jonathan P. Bradfield(22), Struan F.A. Grant(21), Rosetta Chiavacci(20), Kai Wang(18), Patrick Sleiman(18), Edward C. Frackelton(15), Kelly Thomas(15), Cecilia Kim(15), F. George Otieno(13), Maria Garris(11), Marcella Devoto(11), John M. Maris(11), Frank Mentch(11), Sharon J. Diskin(10), Haitao Zhang(9), Edward F. Attiyeh(9), Dong Li(9), Marcin Imieliński(8)