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14 articles across 1 week of watch. Full-text search and filters available below.
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14 articles
NME5
ARPubMedDiscovery of a Pathogenic NME5 Variant Underlying Acephalic Spermatozoa Syndrome
Male infertility — acephalic spermatozoa syndrome (ASS)
9
/10
New gene
Clinical Genetics, 2026 Feb;109(2):368-373Read
IRF2BPL
AD de novoPubMedRecurrent IRF2BPL c.2152del Variant in NEDAMSS: A Case Report and Comparative Analysis
NEDAMSS (MIM#618088) + West syndrome
6
/10
Recurrent variantPhenotypic expansion
American Journal of Medical Genetics A, online 2026-03-11Read
ZFX
XL de novo (♀)PubMedDe Novo Heterozygous ZFX Frameshift Variant in a Female With an X-Linked Neurodevelopmental Disorder
X-linked NDD (ZFX syndrome) — female presentation
7
/10
Phenotypic expansionRecurrent variant
American Journal of Medical Genetics A, 2026 Feb;200(2):521-530Read
RNU4-2
ARPubMedBiallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Novel recessive NDD syndrome with white matter abnormalities (distinct from dominant ReNU — MIM#620851)
10
/10
New mechanismPhenotypic expansion
Nature Genetics, 58:761-773 (2026)Read
CAST
ARPubMedSevere Dilated Cardiomyopathy with PLACK Syndrome Caused by a Novel Truncating Variant in the CAST Gene
PLACK syndrome (MIM#616295) + severe dilated cardiomyopathy (phenotypic expansion)
6
/10
Phenotypic expansion
Revue de cardiogénétique, 2026Read
SEMA3A
ADPubMedIdentification and Functional Characterization of a Novel SEMA3A Exon Deletion Variant in Kallmann Syndrome
Kallmann syndrome — HH16 (MIM#614897)
7
/10
Functional SNV
Revue d'endocrinologie/génétique, 2026Read
ZFHX4
AD de novoPubMedLoss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder
Novel neurodevelopmental disorder (intellectual disability / global delay)
9
/10
New gene
Am J Hum Genet / Genet Med, 2025Read
LDB1
AD de novomedRxivDe novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms
NDD — genotype–phenotype correlation driven by variant location
8
/10
New mechanism
medRxiv preprintRead
MAP2K4
AD de novomedRxivDe novo MAP2K4 variants cause a novel syndromic neurodevelopmental disorder
Novel syndromic NDD + congenital malformations (mostly genitourinary) + epilepsy
8
/10
New gene
medRxiv preprintRead
PLEKHA6
AD (pénétrance variable)medRxivPLEKHA6 — nouveau gène associé à l'hypogonadisme hypogonadotrope idiopathique (IHH)
Idiopathic hypogonadotropic hypogonadism (IHH) — endocrinology / reproduction
10
/10
New geneNew mechanism
medRxiv preprintRead
HIPK4
AR (à confirmer)medRxivHIPK4 is a novel gene associated with teratozoospermia
Male infertility — teratozoospermia
7
/10
New gene
medRxiv preprintRead
TGFBR2
AD / XLmedRxivRare missense variants in TGFBR2 and FLNA identified by whole-exome sequencing in syndromic genetic aortopathy
Syndromic aortopathy — overlap with Loeys–Dietz syndrome 2 (MIM#610168)
5
/10
Phenotypic expansion
medRxiv preprintRead
ABCA4
ARbioRxivLoss of ABCA4 from photoreceptor discs triggers changes in glial cell homeostasis
Stargardt disease — STGD1 (MIM#248200)
7
/10
New mechanism
bioRxiv preprintRead
VCAN
Susceptibilité GWASbioRxivCharacterization of variants associated with Cerebral Small Vessel Disease identifies a functional SNV in Versican (VCAN)
Cerebral small vessel disease (CSVD)
6
/10
Functional SNV
bioRxiv preprintRead
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- Week of 22 April 202614 articles · 5 new genes