H. Cui

发表

Molecular findings among patients referred for clinical whole-exome sequencing.

Magalie S Leduc, Ankita Patel, J. Lupski, 2014, JAMA.

Comprehensive one-step molecular analyses of mitochondrial genome by massively parallel sequencing.

L. Wong, H. Cui, Wei Zhang, 2012, Clinical chemistry.

Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy

J. Graham, K. Mathews, T. Pierson, 2018, Annals of clinical and translational neurology.

Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants

Lora J. H. Bean, D. Arjona, Laura M. Sack, 2019, Genetics in Medicine.

Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy

H. Cui, Renkui Bai, Taosheng Huang, 2020, Human mutation.

Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder

T. Strom, E. Blair, B. Puisac, 2020, Clinical genetics.

A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins.

Mohammad A. Ghattas, Yaping Yang, C. Eng, 2017, European journal of medical genetics.

Correction: Hot-stop PCR: a simple and general assay for linear quantitation of allele ratios

A. Feinberg, H. Cui, H. Uejima, 2001, Nature Genetics.

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

M. Shaw, J. Gécz, M. Brudno, 2021, European Journal of Human Genetics.

Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects

Li Chieh Chen, W. Craigen, B. Graham, 2013, Human mutation.

Aberrant Drp1‐mediated mitochondrial division presents in humans with variable outcomes

Sharyn A. Lincoln, I. Glass, M. Tarnopolsky, 2018, Human molecular genetics.

Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants

Lora J. H. Bean, D. Arjona, Laura M. Sack, 2019, Genetics in Medicine.

Methods of Gene Enrichment and Massively Parallel Sequencing Technologies

Hong Cui, H. Cui, 2013 .

Application of next generation sequencing to molecular diagnosis of inherited diseases.

L. Wong, H. Cui, Wei Zhang, 2014, Topics in current chemistry.

Molecular findings among patients referred for clinical whole-exome sequencing: Editorial comment

Ankita Patel, J. Lupski, R. Gibbs, 2015 .

Comprehensive 1-Step Molecular Analyses of Mitochondrial Genome by Massively Parallel Sequencing

L. Wong, H. Cui, Wei Zhang, 2012 .

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, BMC Medical Genomics.

Next-generation sequencing for disorders of low and high bone mineral density

B. Dawson, R. Gibbs, N. Brunetti‐Pierri, 2013, Osteoporosis International.

Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders

Wei Zhang, Guoli Wang, Gregory M. Enns, 2013, Genetics in Medicine.

Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin

Y. Chien, W. Hwu, W. Craigen, 2012, Genetics in Medicine.

Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans

B. Solomon, M. McDonald, R. Schnur, 2021, Genetics in Medicine.

Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing.

Victor Wei Zhang, Hui Yu, Clara van Karnebeek, 2013, Molecular genetics and metabolism.

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, BMC Medical Genomics.

Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants

Lora J. H. Bean, D. Arjona, Laura M. Sack, 2019, Genetics in Medicine.