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LD

Lia D’Abate

Roche (Switzerland) CH

ORCID 0000-0003-4526-1610
17
Publications
2,747
Citations
10
H-Index
10
i10-Index
1.25
2yr Mean Cite
-
Cite/Paper
Data combined from OpenAlex + Semantic Scholar. OA = OpenAlex S2 = Semantic Scholar
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Publication & Citation Trends

Most Cited Works

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder OA
Ryan K. C. Yuen, Daniele Merico, Matt Bookman, Jennifer Howe, Bhooma Thiruvahindrapuram +78 more
Nature Neuroscience 2017
928
Whole-genome sequencing of quartet families with autism spectrum disorder
Ryan K. C. Yuen, Bhooma Thiruvahindrapuram, Daniele Merico, Susan Walker, Kristiina Tammimies +23 more
Nature Medicine 2015
540
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder
Kristiina Tammimies, Christian R. Marshall, Susan Walker, Gaganjot Kaur, Bhooma Thiruvahindrapuram +29 more
JAMA 2015
436
Genomic architecture of autism from comprehensive whole-genome sequence annotation OA
Brett Trost, Bhooma Thiruvahindrapuram, Ada J. S. Chan, Worrawat Engchuan, Edward J. Higginbotham +95 more
Cell 2022
266
Genome-wide characteristics of de novo mutations in autism OA
Ryan K. C. Yuen, Daniele Merico, Hongzhi Cao, Giovanna Pellecchia, Babak Alipanahi +43 more
npj Genomic Medicine 2016
237

Publications

17 total

Assigning Targetable Molecular Pathways to Transdiagnostic Subgroups Across Autism and Related Neurodevelopmental Disorders PDF

Jacob Ellegood, Antoine Beauchamp, Yohan Yee, Gabriel A. Devenyi, Justine Ziolkowski et al. - bioRxiv (Cold Spring Harbor Laboratory), 2025
Cited by 4 OpenAlex

ApoE4 disrupts intracellular trafficking and iron homeostasis in a reproducible iPSC-based model of human brain endothelial cells PDF

Luisa Bell, Shane Clerkin, Sila Rizalar, A. Rizkallah, Nadine Stokar‐Regenscheit et al. - Stem Cell Reports, 2025
Cited by 1 OpenAlex

The Phenotypic variability of 16p11.2 distal BP2–BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples PDF

Marc Woodbury‐Smith, Lia D’Abate, Dimitri J. Stavropoulos, Jennifer Howe, Irene Drmic et al. - Journal of Medical Genetics, 2023
Cited by 3 OpenAlex

Genomic architecture of autism from comprehensive whole-genome sequence annotation PDF

Brett Trost, Bhooma Thiruvahindrapuram, Ada J. S. Chan, Worrawat Engchuan, Edward J. Higginbotham et al. - Cell, 2022
Cited by 266 OpenAlex

Genomic architecture of Autism Spectrum Disorder from comprehensive whole-genome sequence annotation PDF

Brett Trost, Bhooma Thiruvahindrapuram, Ada J. S. Chan, Worrawat Engchuan, Edward J. Higginbotham et al. - medRxiv, 2022
Cited by 3 OpenAlex

Synaptic Dysfunction in Human Neurons With Autism-Associated Deletions in PTCHD1-AS PDF

P. Joel Ross, Wenbo Zhang, Rebecca S.F. Mok, Kirill Zaslavsky, Éric Deneault et al. - Biological Psychiatry, 2019
Cited by 92 OpenAlex

Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders PDF

Lia D’Abate, Susan Walker, Ryan K. C. Yuen, Kristiina Tammimies, Janet A. Buchanan et al. - Nature Communications, 2019
Cited by 40 OpenAlex

OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome PDF

Mohammed Uddin, Brianna K. Unda, Vickie Kwan, Nicholas Holzapfel, Sean H. White et al. - The American Journal of Human Genetics, 2018
Cited by 113 OpenAlex

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder PDF

Ryan K. C. Yuen, Daniele Merico, Matt Bookman, Jennifer Howe, Bhooma Thiruvahindrapuram et al. - Nature Neuroscience, 2017
Cited by 928 OpenAlex

Genome-wide characteristics of de novo mutations in autism PDF

Ryan K. C. Yuen, Daniele Merico, Hongzhi Cao, Giovanna Pellecchia, Babak Alipanahi et al. - npj Genomic Medicine, 2016
Cited by 237 OpenAlex

Research Topics

Autism Spectrum Disorder Research (10) Genomic variations and chromosomal abnormalities (10) Genetics and Neurodevelopmental Disorders (7) Genomics and Rare Diseases (4) Congenital heart defects research (4)

Frequent Co-Authors

ST
Stephen W. Scherer
10 joint publications
RY
Ryan K. C. Yuen
9 joint publications
JE
Jennifer Howe
8 joint publications
BH
Bhooma Thiruvahindrapuram
8 joint publications
GI
Giovanna Pellecchia
7 joint publications
CH
Christian R. Marshall
7 joint publications

Affiliations

Roche (Switzerland)
CH 2025 - 2024
Mount Allison University
CA 2011 - 2011
University of Toronto
CA 2023 - 2017
Great Ormond Street Hospital
GB 2025 - 2025
Hospital for Sick Children
CA 2025 - 2015

External Profiles

OpenAlex Profile Semantic Scholar Profile ORCID Profile Google Scholar

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