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1
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

von Leitão, Elsa ; Santini, Amandine ; Cogne, Benjamin ; et al.

Nature Genetics. 58(4):782-797
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2
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals

von Sabbagh, Quentin ; Cenni, Camille ; Haghshenas, Sadegheh ; et al.

European Journal of Human Genetics. :1-10
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3
Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature

von Leduc, Fiona ; Brunelle, Perrine ; Escande, Fabienne ; et al.

European Journal of Human Genetics. 33(11):1442-1450
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4
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature

von Houdayer, Clara ; Rooney, Kathleen ; van der Laan, Liselot ; et al.

European Journal of Human Genetics. 33(11):1422-1431
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5
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study

von El Chehadeh, Salima ; Heide, Solveig ; Quélin, Chloé ; et al.

Genome Medicine. 17(1)
- Zum Volltext in PubMed Central
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6
Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort

von Vegas, Nancy ; Rio, Marlène ; Adnot, Pauline ; et al.

Orphanet Journal of Rare Diseases. 20(1)
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7
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

von Nava, Caroline ; Cogne, Benjamin ; Santini, Amandine ; et al.

Nature Genetics. 57(6):1374-1388
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8
Genetic modifiers and ascertainment drive variable expressivity of complex disorders

von Jensen, Matthew ; Smolen, Corrine ; Tyryshkina, Anastasia ; et al.

In Cell 11 December 2025 188(25):7065-7082
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9
Further delineation of the SCAF4-associated neurodevelopmental disorder

von Schmid, Cosima M. ; Gregor, Anne ; Ruiz, Anna ; et al.

European Journal of Human Genetics. 33(5):588-594
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10
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features

von Thauvin-Robinet, Christel ; Garde, Aurore ; Favier, Maud ; et al.

European Journal of Human Genetics. 33(5):675-682
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11
Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders

von Bou-Rouphael, Johnny ; Cospain, Auriane ; Courtin, Thomas ; et al.

In The American Journal of Human Genetics 6 November 2025 112(11):2605-2624
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12
PERIGENOMED-CLINICS 1—the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France

von Laurence Faivre ; Sylvie Odent ; Laurent Pasquier ; et al.

BMJ Open, Vol 15, Iss 10 (2025)

Schlagworte: Medicine
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13
A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders

von Gabriele Di Pasquale ; Jacopo Colella ; Carola P. Di Cataldo ; et al.

Frontiers in Cellular Neuroscience, Vol 19 (2025)

Schlagworte: TUBB2A; neurodevelopmental disorders; tubulinopathies; intellectual disability; behavioral disorders; microcephaly; Neurosciences. Biological psychiatry. Neuropsychiatry; RC321-571
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14
C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder

von Milosavljevic, Aleksander ; Lanza, Denise G. ; Mao, Dongxue ; et al.

In Genetics in Medicine July 2025 27(7)
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15
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder

von Scott, Abbey ; Iglesias, Alejandro ; McConkie-Rosell, Allyn ; et al.

In The American Journal of Human Genetics 5 June 2025 112(6):1388-1414
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16
Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique

von Kachmar, Jessica ; Saei, Hassan ; Morinière, Vincent ; et al.

In American Journal of Kidney Diseases May 2025 85(5):603-609
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17
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

von Cali, Elisa ; Quirin, Tania ; Rocca, Clarissa ; et al.

In Genetics in Medicine April 2025 27(4)
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18
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly

von Herbst, Charlotte ; Bothe, Viktoria ; Wegler, Meret ; et al.

Human Genetics. 143(3):455-469
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19
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

von Rots, Dmitrijs ; Choufani, Sanaa ; Faundes, Victor ; et al.

In The American Journal of Human Genetics 8 August 2024 111(8):1626-1642
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20
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

von Angius, Andrea ; Baker, Janice A. ; Bedoukian, Emma ; et al.

In Human Genetics and Genomics Advances 18 July 2024 5(3)
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21
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response

von Deb, Wallid ; Rosenfelt, Cory ; Vignard, Virginie ; et al.

In The American Journal of Human Genetics 11 July 2024 111(7):1352-1369
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22
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23
Penetrance, variable expressivity and monogenic neurodevelopmental disorders

von de Masfrand, Servane ; Cogné, Benjamin ; Nizon, Mathilde ; et al.

In European Journal of Medical Genetics June 2024 69
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24
P181: Prenatal-onset hypertrophic cardiomyopathy in 54 patients with RASopathies: Understanding phenotype-genotype correlations for risk stratification, medical management and targeted therapies

von Guillaume Jouret ; Dominik Brado ; Jeroen Breckpot ; et al.

Genetics in Medicine Open, Vol 3, Iss , Pp 102146- (2025)

Schlagworte: Genetics; QH426-470; Medicine
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25
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