Kai Lee Yap

7PUBLICATIONS
32CO-AUTHORS
Systems physiologyEpigenetics (incl. genome methylation and epigenomics)Gene mappingNeurogeneticsGene expression (incl. microarray and other genome-wide approaches)
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Publications (7)

|Mar 11, 2026
Recognition of a Critical Functional Domain and Improved PHOX2B Missense Variant Interpretation by Utilization of In Silico Prediction Tools.

Andy Drackley, Andrew D Skol, Casey M Rand

|Dec 04, 2025
Long-Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy.

Andy Drackley, Merlene Peter, Heba H Akbari

|Aug 27, 2025
Genetic Investigation and Transcriptome Profiling in a Nuclear Family With Peutz-Jeghers Syndrome.

Tahir N Khan, Chunyu Liu, Kai Lee Yap

|Apr 04, 2024
Homozygosity for disease-causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia.

Andy Drackley, Merlene Peter, Pamela Rathbun

|Sep 04, 2023
Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16.

Andy Drackley, Lenika De Simone, Nancy Kuntz

|Nov 20, 2022
Transitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome.

Susan M Slattery, Iris A Perez, Isabella Ceccherini

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Frequent Collaborators

4 joint publications

Alexander Ing

4 joint publications

Andy Drackley

2 joint publications

Merlene Peter

2 joint publications

Pamela Rathbun