# Margaret A. Hojlo

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/margaret-a-hojlo/

## Facts

| Field | Value |
| --- | --- |
| Citations | 1,097 |
| Field | Down syndrome and intellectual disability research |
| h-index | 10 |
| i10-index | 10 |
| Last Known Institution | Boston Children's Hospital |
| OpenAlex ID | https://openalex.org/A5048877144 |
| ORCID iD | 0000-0003-3757-9776 |
| Works | 27 |

## Researcher papers

- [Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes](https://scholariq.org/papers/integrating-de-novo-and-inherited-variants-in-42-607-autism-cases-identifies/)
- [Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders](https://scholariq.org/papers/large-scale-targeted-sequencing-identifies-risk-genes-for-neurodevelopmental/)
- [Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders](https://scholariq.org/papers/rare-deleterious-mutations-of-hnrnp-genes-result-in-shared-neurodevelopmental/)
- [Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders](https://scholariq.org/papers/integrated-gene-analyses-of-de-novo-variants-from-46-612-trios-with-autism-and/)
- [Unexplained regression in Down syndrome: Management of 51 patients in an international patient database](https://scholariq.org/papers/unexplained-regression-in-down-syndrome-management-of-51-patients-in-an/)
- [Beliefs in vaccine as causes of autism among SPARK cohort caregivers](https://scholariq.org/papers/beliefs-in-vaccine-as-causes-of-autism-among-spark-cohort-caregivers/)
- [Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum Disorder](https://scholariq.org/papers/similar-rates-of-deleterious-copy-number-variants-in-early-onset-psychosis-and/)
- [Co‐occurring conditions in Down syndrome: Findings from a clinical database](https://scholariq.org/papers/co-occurring-conditions-in-down-syndrome-findings-from-a-clinical-database/)
- [RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes](https://scholariq.org/papers/rcl1-copy-number-variants-are-associated-with-a-range-of-neuropsychiatric/)
- [Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study](https://scholariq.org/papers/underrepresentation-of-phenotypic-variability-of-16p13-11-microduplication/)
- [Burden Experienced by Primary Caregivers of Children With Psychotic Disorders and at Clinical High Risk for Psychosis](https://scholariq.org/papers/burden-experienced-by-primary-caregivers-of-children-with-psychotic-disorders/)

## Researcher topics

- [Down syndrome and intellectual disability research](https://scholariq.org/topics/down-syndrome-and-intellectual-disability-research/)
- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)
- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)
- [Autism Spectrum Disorder Research](https://scholariq.org/topics/autism-spectrum-disorder-research/)

## Researcher university

- [Boston Children's Hospital](https://scholariq.org/institutions/boston-children-s-hospital/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.