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Abbe Lai | Researchclopedia

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Abbe Lai

Boston Children's Hospital ORCID

17

Works

459

Citations

11

h-index

12

i10-index

Research Topics

Genomics and Rare Diseases Microtubule and mitosis dynamics Congenital heart defects research

Affiliations

Boston Children's Hospital2019–2026

Howard Hughes Medical Institute2019–2026

Harvard University2019–2025

Center for Pain and the Brain2022–2022

Boston Children's Museum2022–2022

Top Works

Mondo: Unifying diseases for the world, by the world

Nicole Vasilevsky,Nicolas Matentzoglu,et al.

202298 citations

Epigenetics and DNA Methylation

Genomic variations and chromosomal abnormalities

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

Maya Chopra,Dustin L. Gable,et al.

202280 citations

Spatial transcriptomics reveals human cortical layer and area specification

Xuyu Qian,Kyle Coleman,et al.

202540 citations

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

Richard H. van Jaarsveld,Jack Reilly,et al.

202235 citations

The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2

Abbe Lai,Aubrie Soucy,et al.

202234 citations

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

Shyam K. Akula,Allen Y. Chen,et al.

202330 citations

Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features

Muhammad Ansar,Farid Ullah,et al.

201930 citations

Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5

Andrew Kodani,Connor Kenny,et al.

202025 citations

Polymicrogyria is Associated With Pathogenic Variants in <scp><i>PTEN</i></scp>

Diane D. Shao,Christelle Moufawad El Achkar,et al.

202024 citations