Research map: Identification of novel HUWE1 variants in Turner-type X-linked intellectual disability

Papers in this map

1. Factors influencing success of clinical genome sequencing across a broad spectrum of disorders · Jenny C. Taylor · 2015 · 397 citations · Cited by this paper
2. Phenotypic discordance in monozygotic twins with a CDH2 variant · 2026 · Related
3. Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios · Xiaolin Zhu · 2015 · 354 citations · Cited by this paper
4. Pathogenic variant in GATA4 associated with atrioventricular septal defect and congenital diaphragmatic hernia: A case report · 2025 · Related
5. Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation · Guy Froyen · 2008 · 228 citations · Cited by this paper
6. A fetal case of Stüve-Wiedemann syndrome due to a novel homozygous truncating variant in IL6ST · 2025 · Related
7. X‐linked intellectual disability update 2017 · Giovanni Neri · 2018 · 125 citations · Cited by this paper
8. Tachycardiomyopathy-like presentation in neonatal MCAD deficiency: A novel cardiac phenotype · 2026 · Related
9. HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients · Stéphanie Moortgat · 2017 · 110 citations · Cited by this paper
10. Rare features in Feingold syndrome type 1 · 2025 · Related
11. Roles of the HUWE1 ubiquitin ligase in nervous system development, function and disease · Andrew C. Giles · 2020 · 61 citations · Cited by this paper
12. Two new cases of fragile X syndrome without CGG triplet expansion. Clinical-molecular characterization and review of the literature · 2026 · Related
13. HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study · Michael J. Friez · 2016 · 54 citations · Cited by this paper
14. Chromosome heteromorphisms: Critical literature review finds No convincing evidence of harm · 2025 · Related
15. Diagnostic yield of whole‐exome sequencing in non‐syndromic intellectual disability · Ekim Z. Taşkıran · 2021 · 33 citations · Cited by this paper
16. COL12A1-related myopathic Ehlers–Danlos syndrome with Chiari I malformation: A clinical report · 2025 · Related
17. Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability · Nekane Ibarluzea · 2020 · 32 citations · Cited by this paper
18. Cost-comparison of resequencing versus archival data methods for periodic reanalysis of genomic data in rare diseases diagnosis: A UK pilot analysis · 2025 · Related
19. Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability · Matthias Bosshard · 2017 · 28 citations · Cited by this paper
20. SPIN4-related X-linked overgrowth in a family · 2026 · Related
21. X‐linked mental retardation with heterozygous expression and macrocephaly: Pericentromeric gene localization · GILLIAN M. TURNER · 1994 · 25 citations · Cited by this paper
22. HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability · Mala Isrie · 2013 · 25 citations · Cited by this paper
23. Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer syndrome · Babylakshmi Muthusamy · 2019 · 19 citations · Cited by this paper
24. Targeting of the E3 ubiquitin-protein ligase HUWE1 impairs DNA repair capacity and tumor growth in preclinical multiple myeloma models · Viktoria Kunz · 2020 · 18 citations · Cited by this paper
25. Selective ubiquitination of drug-like small molecules by the ubiquitin ligase HUWE1 · Barbara Orth · 2025 · 12 citations · Cited by this paper
26. Exploring the Clinical Spectrum of HUWE1 ‐Related Neurodevelopmental Disorder: Five New Patients and Literature Review · Alessandro De Falco · 2024 · 9 citations · Cited by this paper
27. Novel Genetic Variant in HUWE1 · Mario Tortora · 2024 · 3 citations · Cited by this paper

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