Xue Zeng

发表

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

Yufeng Shen, Alessandro Giardini, Hongyu Zhao, 2017, Nature Genetics.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Klaus Lehnert, Holger Lerche, Annapurna Poduri, 2018, American journal of human genetics.

Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia

J. Gerrard, S. Mane, J. Simard, 2020, iScience.

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation

Edward R. Smith, Mark W. Youngblood, I. Tikhonova, 2019, Neuron.

De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus

Edward R. Smith, S. Mane, R. Bjornson, 2018, Neuron.

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Daniela C. Zarnescu, J. Gécz, J. Vincent, 2020, Nature Genetics.

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

Edward R. Smith, D. Geschwind, J. Broach, 2020, Nature Medicine.

Mutations in chromatin modifiers and Ephrin signaling components in Vein of Galen malformation

Edward R. Smith, Mark W. Youngblood, Weilai, 2019 .

Integrative modeling of transmitted and de novo variants identifies novel risk genes for congenital heart disease.

R. Lifton, Q. Lu, Sheng-Chih Jin, 2021, Quantitative biology.

SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus*

C. Nelson-Williams, Sheng-Chih Jin, Xue Zeng, 2019, Molecular genetics & genomic medicine.

Mutations disrupting neuritogenesis genes represent a major independent risk factor for cerebral palsy

Daniela C. Zarnescu, J. Gécz, S. Mane, 2020 .

EphrinB2-EphB4-RASA1 Signaling in Human Cerebrovascular Development and Disease.

Sheng-Chih Jin, Xue Zeng, K. Kahle, 2019, Trends in molecular medicine.

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.

R. Redon, J. Rosenfeld, D. Grozeva, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Novel OTOF pathogenic variant segregating with non-syndromic hearing loss in a consanguineous family from tribal Rajouri in Jammu and Kashmir.

M. Tekin, Xue Zeng, K. Namba, 2019, International journal of pediatric otorhinolaryngology.

ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India

J. Musarrat, M. Synofzik, Xue Zeng, 2019, The Cerebellum.

Quantifying concordant genetic effects of de novo mutations on multiple disorders

Hongyu Zhao, R. Lifton, M. Brueckner, 2021, bioRxiv.

Contribution of rare transmitted and de novo variants among 2 , 871 1 congenital heart disease probands

Deepak, Stephan J Sanders, W. Chung, 2017 .

The choroid plexus links innate immunity to CSF dysregulation in hydrocephalus

J. Simard, S. Schiff, A. Tannenbaum, 2023, Cell.

Giant axonal neuropathy with novel GAN pathogenic variant in a patient of consanguineous origin from Poonch Jammu and Kashmir-India

Xue Zeng, J. Sheth, A. Taneja, 2021, Molecular Biology Reports.

Human Genetics and Molecular Mechanisms of Congenital Hydrocephalus.

R. Lifton, M. Günel, Sheng-Chih Jin, 2018, World neurosurgery.

Radiation Necrosis with Proton Therapy in a Patient with Aarskog-Scott Syndrome and Medulloblastoma

M. Aboian, Xue Zeng, K. Kahle, 2021, International journal of particle therapy.

Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations

T. Boggon, Tanyeri Barak, Shrikant Mane, 2023, bioRxiv.

Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3

R. Lifton, C. Nelson-Williams, M. Gunel, 2019, Front. Cell. Neurosci..

Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations

T. Boggon, Tanyeri Barak, Shrikant Mane, 2023, bioRxiv.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

I. Scheffer, H. Mefford, E. Haan, 2019, American Journal of Human Genetics.

Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations

Shrikant Mane, R. Lifton, C. Nelson-Williams, 2023, Nature communications.