Anna K. Kwong

Sar, China

Last Updated: 09/26/2026

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Found 13 publications

Translating transcriptomics analysis into diagnostic workflows: clinical variant identification and interpretation in hypothesis-driven and hypothesis-free approaches.

Translating transcriptomics analysis into diagnostic workflows: clinical variant identification and interpretation in hypothesis-driven and hypothesis-free approaches.

Journal: EBioMedicine

Published: September 18, 2025

An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysis.

An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysis.

Journal: NPJ genomic medicine

Published: December 04, 2024

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.

Journal: medRxiv : the preprint server for health sciences

Published: August 16, 2024

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.

Journal: Nature communications

Published: July 14, 2024

High FGF-21 level in a cohort of 22 patients with Dravet Syndrome-Possible relationship with the disease outcomes.

High FGF-21 level in a cohort of 22 patients with Dravet Syndrome-Possible relationship with the disease outcomes.

Journal: Epilepsia open

Published: April 07, 2021

Human d-lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency.

Human d-lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency.

Journal: JIMD reports

Published: January 15, 2021

Exome sequencing in paediatric patients with movement disorders.

Exome sequencing in paediatric patients with movement disorders.

Journal: Orphanet journal of rare diseases

Published: October 27, 2020

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.

Journal: NPJ genomic medicine

Published: March 21, 2019

ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV.

ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV.

Journal: Brain & development

Published: March 20, 2019

Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy.

Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy.

Journal: Epilepsia open

Published: March 15, 2017

Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy.

Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy.

Journal: PloS one

Published: February 09, 2015

CDKL5 variant in a boy with infantile epileptic encephalopathy: case report.

CDKL5 variant in a boy with infantile epileptic encephalopathy: case report.

Journal: Brain & development

Published: May 02, 2014

Showing 1-12 of 13

Last Updated: 09/26/2026