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Author Details
Full Name
Michael H Duyzend
Affiliation
Massachusetts General Hospital
ORCID
Career Start Year
2011
Papers
15
H Index
10
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
37953324
The Human Phenotype Ontology in 2024: phenotypes around the world.
Nucleic Acids Res
2024
37991862
High-Resolution and Noninvasive Fetal Exome Screening.
N Engl J Med
2023
35872606
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
Am J Med Genet C Semin Med Genet
2022
32597026
Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers.
Autism Res
2020
30504930
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Genet Med
2019
29375855
Longitudinal report of child with de novo 16p11.2 triplication.
Clin Case Rep
2017
28279197
The birth of a human-specific neural gene by incomplete duplication and gene fusion.
Genome Biol
2017
26749307
Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.
Am J Hum Genet
2016
27487209
Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.
Nature
2016
26749308
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.
Am J Hum Genet
2016
25843334
Genotype-first analysis of the 16p11.2 deletion defines a new type of "autism".
Biol Psychiatry
2015
24581740
A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.
Am J Hum Genet
2014
25170347
Genomic studies in fragile X premutation carriers.
J Neurodev Disord
2014
22085139
Synthesis and evaluation of substrate analogue inhibitors of trypanothione reductase.
J Enzyme Inhib Med Chem
2012
22146299
Non-DNA-binding cofactors enhance DNA-binding specificity of a transcriptional regulatory complex.
Mol Syst Biol
2011
1 - 15 of 15
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