Mianne K. Lee

1Prenetics Limited, 7/F, Prosperity Millennia Plaza, 663 King's Road
Sar, China

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 18 publications

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.

Journal: EBioMedicine

Published: October 08, 2024

Familial thrombotic microangiopathy in a child with coenzyme Q10 deficiency-associated glomerulopathy.

Familial thrombotic microangiopathy in a child with coenzyme Q10 deficiency-associated glomerulopathy.

Journal: Pediatric nephrology (Berlin, Germany)

Published: April 29, 2024

Simpson-Golabi-Behmel syndrome type 1 with normal birth parameters.

Simpson-Golabi-Behmel syndrome type 1 with normal birth parameters.

Journal: BMJ case reports

Published: March 05, 2024

Whole genome sequencing in paediatric channelopathy and cardiomyopathy.

Whole genome sequencing in paediatric channelopathy and cardiomyopathy.

Journal: Frontiers in cardiovascular medicine

Published: November 09, 2023

Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants.

Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants.

Journal: Human genomics

Published: February 02, 2023

Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies-Experience from a Local Prenatal Diagnostic Laboratory.

Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies-Experience from a Local Prenatal Diagnostic Laboratory.

Journal: Healthcare (Basel, Switzerland)

Published: October 27, 2022

Refractory thrombocytopenia and myelofibrosis in a novel KDSR mutation: Case report and literature review.

Refractory thrombocytopenia and myelofibrosis in a novel KDSR mutation: Case report and literature review.

Journal: Pediatric blood & cancer

Published: October 24, 2022

Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept.

Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept.

Journal: NPJ genomic medicine

Published: June 28, 2022

Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis.

Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis.

Journal: Frontiers in genetics

Published: April 30, 2022

Clinical implications of mosaicism: a 10-year retrospective review of 83 families in a university-affiliated genetics clinic.

Clinical implications of mosaicism: a 10-year retrospective review of 83 families in a university-affiliated genetics clinic.

Journal: Clinical dysmorphology

Published: March 08, 2022

Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.

Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.

Journal: NPJ genomic medicine

Published: August 06, 2021

Invasive cerebral phaeohyphomycosis in a Chinese boy with CARD9 deficiency and showing unique radiological features, managed with surgical excision and antifungal treatment.

Invasive cerebral phaeohyphomycosis in a Chinese boy with CARD9 deficiency and showing unique radiological features, managed with surgical excision and antifungal treatment.

Journal: International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases

Published: March 09, 2021

Showing 1-12 of 18

Last Updated: 09/26/2026