Research area · week to 3 Oct 2026

Congenital Ear and Nasal Anomalies

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Latest in Congenital Ear and Nasal Anomalies

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The Female Side of Autism: Sexual Dichotomies impacting the Helsmoortel-Van der Aa syndrome pathology.
bioRxiv · 25 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.09.20.752986
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Aminopeptidase N is a receptor for hedgehog merbecoviruses.
Nature Microbiology · 16 Sept 2026 · Journal Article
Aminopeptidase N serves as a receptor for hedgehog merbecoviruses, with species-specific binding revealed by cryo-EM analysis.
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A rare de novo contiguous 15q11.1-q13.3 duplication with tetrasomy (CN=4) and adjacent trisomy (CN=3) associated with severe global developmental delay, autism spectrum disorder, and subclinical epileptiform discharges: a case report and literature review.
Frontiers in Genetics · 9 Sept 2026 · Case Reports
A de novo 15q11.1-q13.3 duplication with tetrasomy and trisomy was linked to severe neurodevelopmental delays and autism in a girl, expanding known genomic variations.
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Emerging evidence for a cooperative pathway of Hedgehog release.
Nature Reviews Molecular Cell Biology · 1 Sept 2026 · Journal Article
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Case Report: Differential outcomes associated with the same pathogenic variant: long-term follow-up of a CHARGE syndrome case with a nonsense mutation c.6292C>T in the CHD gene.
Frontiers in Genetics · 31 Aug 2026 · Case Reports
A female with a de novo nonsense CHD7 variant (c.6292C>T) in CHARGE syndrome survived to school age, demonstrating that this mutation can be compatible with favorable long-term outcomes.
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Rare missense variants in NECTIN1 alter local protein structure and may contribute to non-syndromic cleft lip with or without palate.
Frontiers in Genetics · 13 Aug 2026 · Journal Article
Rare missense variants in NECTIN1, including p.(Arg199Gln) and p.(Gly44Ser), may influence protein structure and contribute to non-syndromic cleft lip with or without palate.
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Latest in Congenital Ear and Nasal Anomalies

The Female Side of Autism: Sexual Dichotomies impacting the Helsmoortel-Van der Aa syndrome pathology.

Aminopeptidase N is a receptor for hedgehog merbecoviruses.

A rare de novo contiguous 15q11.1-q13.3 duplication with tetrasomy (CN=4) and adjacent trisomy (CN=3) associated with severe global developmental delay, autism spectrum disorder, and subclinical epileptiform discharges: a case report and literature review.

Emerging evidence for a cooperative pathway of Hedgehog release.

Case Report: Differential outcomes associated with the same pathogenic variant: long-term follow-up of a CHARGE syndrome case with a nonsense mutation c.6292C>T in the CHD gene.

Rare missense variants in NECTIN1 alter local protein structure and may contribute to non-syndromic cleft lip with or without palate.

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