# Luisa De Sanctis

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/luisa-de-sanctis/

## Facts

| Field | Value |
| --- | --- |
| Citations | 5,508 |
| Field | Genetic Syndromes and Imprinting |
| h-index | 37 |
| i10-index | 94 |
| Last Known Institution | Ospedale Regina Margherita |
| OpenAlex ID | https://openalex.org/A5013435717 |
| ORCID iD | 0000-0003-2113-6196 |
| Works | 257 |

## Researcher papers

- [Congenital Hypothyroidism: A 2020–2021 Consensus Guidelines Update—An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology](https://scholariq.org/papers/congenital-hypothyroidism-a-2020-2021-consensus-guidelines-update-an-endo/)
- [Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement](https://scholariq.org/papers/diagnosis-and-management-of-pseudohypoparathyroidism-and-related-disorders-first/)
- [Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT](https://scholariq.org/papers/non-type-i-cystinuria-caused-by-mutations-in-slc7a9-encoding-a-subunit-bo-at-of/)
- [Comparison between SLC3A1 and SLC7A9 Cystinuria Patients and Carriers](https://scholariq.org/papers/comparison-between-slc3a1-and-slc7a9-cystinuria-patients-and-carriers/)
- [<i>SOX2</i> anophthalmia syndrome](https://scholariq.org/papers/i-sox2-i-anophthalmia-syndrome/)
- [Has COVID-19 Delayed the Diagnosis and Worsened the Presentation of Type 1 Diabetes in Children?](https://scholariq.org/papers/has-covid-19-delayed-the-diagnosis-and-worsened-the-presentation-of-type-1/)
- [From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network](https://scholariq.org/papers/from-pseudohypoparathyroidism-to-inactivating-pth-pthrp-signalling-disorder/)
- [Pseudohypoparathyroidism and<i>GNAS</i>Epigenetic Defects: Clinical Evaluation of Albright Hereditary Osteodystrophy and Molecular Analysis in 40 Patients](https://scholariq.org/papers/pseudohypoparathyroidism-and-i-gnas-i-epigenetic-defects-clinical-evaluation-of/)
- [Accuracy of Fine Needle Aspiration Biopsy of Thyroid Nodules in Detecting Malignancy in Childhood: Comparison with Conventional Clinical, Laboratory, and Imaging Approaches](https://scholariq.org/papers/accuracy-of-fine-needle-aspiration-biopsy-of-thyroid-nodules-in-detecting/)
- [Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria.](https://scholariq.org/papers/genetic-heterogeneity-in-cystinuria-the-slc3a1-gene-is-linked-to-type-i-but-not/)
- [Use of gonadotropin-releasing hormone agonists in transgender and gender diverse youth: a systematic review](https://scholariq.org/papers/use-of-gonadotropin-releasing-hormone-agonists-in-transgender-and-gender-diverse/)

## Researcher topics

- [Genetic Syndromes and Imprinting](https://scholariq.org/topics/genetic-syndromes-and-imprinting/)
- [Diabetes and associated disorders](https://scholariq.org/topics/diabetes-and-associated-disorders/)
- [Diabetes Management and Research](https://scholariq.org/topics/diabetes-management-and-research/)
- [Metabolism and Genetic Disorders](https://scholariq.org/topics/metabolism-and-genetic-disorders/)
- [Thyroid Disorders and Treatments](https://scholariq.org/topics/thyroid-disorders-and-treatments/)

## Researcher university

- [Ospedale Regina Margherita](https://scholariq.org/institutions/ospedale-regina-margherita/)

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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.