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Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity

European Journal of Human Genetics
2025-03-19 | Journal article
DOI: 10.1038/s41431-025-01809-w
Contributors: Ange-Line Bruel; Anneke T. Vulto-vanSilfhout; Frédéric Bilan; Gwenaël Le Guyader; Brigitte Gilbert-Dussardier; Xavier Le Guillou; Sophie Rondeau; Marlène Rio; Kristen N. Lee; Adelyn Beil et al.
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Crossref

Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech

Molecular Autism
2025-02-13 | Journal article
DOI: 10.1186/s13229-025-00642-8
Contributors: Clothilde Ormieres; Marion Lesieur-Sebellin; Karine Siquier-Pernet; Geoffroy Delplancq; Marlene Rio; Mélanie Parisot; Patrick Nitschké; Cristina Rodriguez-Fontenla; Alison Bodineau; Lucie Narcy et al.
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Crossref

Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity, leads to neurodevelopmental disorder and obesity.

2024-07-19 | Preprint
DOI: 10.21203/rs.3.rs-4610126/v1
Contributors: Ange-Line Bruel; Anneke Vulto-van Silfhout; Frederic Bilan; Gwenaël Le Guyader; Brigitte Gilbert-Dussardier; Xavier Le Guillou Horn; Sophie Rondeau; Marlène RIO; Kristen Lee; Adelyn Beil et al.
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Crossref

Molecular and clinical descriptions of patients with GABA<sub>A</sub> receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.

Epilepsia
2022-08-13 | Journal article
DOI: 10.1111/epi.17336
PMID: 35718920
PMC: PMC9804453
Contributors: Maillard Pierre-Yves; Sarah Baer; Schaefer É; Beatrice Desnous; Villeneuve N; Lépine A; Fabre A; Lacoste C; El Chehadeh S; Piton A et al.
Source: Self-asserted source
Marlene Rio

16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing

European Journal of Human Genetics
2022-06 | Journal article
DOI: 10.1038/s41431-022-01094-x
Contributors: Romain Nicolle; Karine Siquier-Pernet; Marlène Rio; Anne Guimier; Emmanuelle Ollivier; Patrick Nitschke; Christine Bole-Feysot; Serge Romana; Alex Hastie; Vincent Cantagrel et al.
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The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.

Human mutation
2021-12-11 | Journal article
DOI: 10.1002/humu.24308
PMID: 34859529
Contributors: Kumble S; Amanda Levy; Jaya Punetha; Gao H; Ah Mew N; Anyane-Yeboa K; Benke PJ; Berger SM; Bjerglund L; Belinda Campos-Xavier et al.
Source: Self-asserted source
Marlene Rio

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

American journal of human genetics
2019-01-10 | Journal article
DOI: 10.1016/j.ajhg.2018.12.007
PMID: 30639322
PMC: PMC6369415
Contributors: Raphael Carapito; Ivanova EL; Morlon A; Meng L; Anne Molitor; Erdmann E; Kieffer B; Pichot A; Naegely L; Kolmer A et al.
Source: Self-asserted source
Marlene Rio

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.

2017-05 | Journal article
DOI: 10.1136/jmedgenet-2016-104212
PMID: 28031252
Contributors: Gerber S; Ding MG; Gérard X; Zwicker K; Zanlonghi X; Rio M; Serre V; Hanein S; Munnich A; Rotig A et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.

2017-03 | Journal article
DOI: 10.1111/cge.13010
PMID: 28295206
Contributors: Lehman N; Mazery AC; Visier A; Baumann C; Lachesnais D; Capri Y; Toutain A; Odent S; Mikaty M; Goizet C et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.

2017-03 | Journal article
DOI: 10.1002/ajmg.a.38061
PMID: 28168853
Contributors: Maillard C; Cavallin M; Piquand K; Philbert M; Bault JP; Millischer AE; Moshous D; Rio M; Gitiaux C; Boddaert N et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.

2017-02 | Journal article
DOI: 10.1111/cge.12985
PMID: 28155230
Contributors: Nambot S; Gavrilov D; Thevenon J; Bruel AL; Bainbridge M; Rio M; Goizet C; Rötig A; Jaeken J; Niu N et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

2017-01 | Journal article
DOI: 10.1007/s10048-016-0498-9
PMID: 27726050
Contributors: Hully M; Ropars J; Hubert L; Boddaert N; Rio M; Bernardelli M; Desguerre I; Cormier-Daire V; Munnich A; de Lonlay P et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

[Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects].

2016 | Journal article
DOI: 10.1051/medsci/20163206015
PMID: 27406762
Contributors: Langouët M; Mircsof D; Rio M; Amiel J; Brown SA; Colleaux L
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.

2016 | Journal article
DOI: 10.1186/s13023-016-0436-9
PMID: 27146152
PMC: PMC4855324
Contributors: Megahed H; Nicouleau M; Barcia G; Medina-Cano D; Siquier-Pernet K; Bole-Feysot C; Parisot M; Masson C; Nitschké P; Rio M et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.

2016-12 | Journal article
DOI: 10.1002/ajmg.a.37940
PMID: 27648933
Contributors: Fergelot P; Van Belzen M; Van Gils J; Afenjar A; Armour CM; Arveiler B; Beets L; Burglen L; Busa T; Collet M et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

2016-09 | Journal article
DOI: 10.1016/j.ajhg.2016.06.029
PMID: 27545680
PMC: PMC5011044
Contributors: Kim JH; Shinde DN; Reijnders MR; Hauser NS; Belmonte RL; Wilson GR; Bosch DG; Bubulya PA; Shashi V; Petrovski S et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.

2016-08 | Journal article
DOI: 10.1038/ejhg.2015.264
PMID: 26669660
Contributors: Collet M; Assouline Z; Bonnet D; Rio M; Iserin F; Sidi D; Goldenberg A; Lardennois C; Metodiev MD; Haberberger B et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

2016-08 | Journal article
DOI: 10.1038/ejhg.2015.273
PMID: 26757980
Contributors: Cavé H; Caye A; Ghedira N; Capri Y; Pouvreau N; Fillot N; Trimouille A; Vignal C; Fenneteau O; Alembik Y et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.

2016-07 | Journal article
DOI: 10.1016/j.ajhg.2016.05.022
PMID: 27374773
PMC: PMC5005453
Contributors: Sánchez-Caballero L; Ruzzenente B; Bianchi L; Assouline Z; Barcia G; Metodiev MD; Rio M; Funalot B; van den Brand MA; Guerrero-Castillo S et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.

2016-07 | Journal article
DOI: 10.1016/j.ajhg.2016.06.013
PMID: 27392079
PMC: PMC5005466
Contributors: Metodiev MD; Thompson K; Alston CL; Morris AA; He L; Assouline Z; Rio M; Bahi-Buisson N; Pyle A; Griffin H et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.

2016-05 | Journal article
DOI: 10.1111/cge.12720
PMID: 26701315
Contributors: Nizon M; Henry M; Michot C; Baumann C; Bazin A; Bessières B; Blesson S; Cordier-Alex MP; David A; Delahaye-Duriez A et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.

2016-05 | Journal article
DOI: 10.1016/j.ajhg.2016.03.004
PMID: 27108797
PMC: PMC4863566
Contributors: Gerber S; Alzayady KJ; Burglen L; Brémond-Gignac D; Marchesin V; Roche O; Rio M; Funalot B; Calmon R; Durr A et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.

2016-05 | Journal article
DOI: 10.1016/j.ajhg.2016.03.010
PMID: 27132592
PMC: PMC4863561
Contributors: Metodiev MD; Thompson K; Alston CL; Morris AA; He L; Assouline Z; Rio M; Bahi-Buisson N; Pyle A; Griffin H et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy.

2016-03 | Journal article
DOI: 10.1038/ejhg.2015.140
PMID: 26153217
PMC: PMC4755376
Contributors: Nguyen LS; Schneider T; Rio M; Moutton S; Siquier-Pernet K; Verny F; Boddaert N; Desguerre I; Munich A; Rosa JL et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

2016-01 | Journal article
DOI: 10.1002/ajmg.a.37384
PMID: 26420639
Contributors: El Chehadeh S; Faivre L; Mosca-Boidron AL; Malan V; Amiel J; Nizon M; Touraine R; Prieur F; Pasquier L; Callier P et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder.

2015 | Journal article
DOI: 10.1186/s12888-015-0631-6
PMID: 26489495
PMC: PMC4618364
Contributors: Philippe A; Craus Y; Rio M; Bahi-Buisson N; Boddaert N; Malan V; Bonnefont JP; Robel L
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.

2015-12 | Journal article
DOI: 10.1038/nn.4169
PMID: 26571461
PMC: PMC5392243
Contributors: Mircsof D; Langouët M; Rio M; Moutton S; Siquier-Pernet K; Bole-Feysot C; Cagnard N; Nitschke P; Gaspar L; Žnidarič M et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency.

2015-10 | Journal article
PMID: 26475292
PMC: PMC5059192
Contributors: Lagoutte-Renosi J; Ségalas-Milazzo I; Crahes M; Renosi F; Menu-Bouaouiche L; Torre S; Lardennois C; Rio M; Marret S; Brasse-Lagnel C et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Severe chronic primary neutropenia in adults: report on a series of 108 patients.

2015-10 | Journal article
DOI: 10.1182/blood-2015-03-634493
PMID: 26261239
Contributors: Sicre de Fontbrune F; Moignet A; Beaupain B; Suarez F; Galicier L; Socié G; Varet B; Coppo P; Michel M; Pautas C et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

MALDI-TOF MS applied to apoC-III glycoforms of patients with congenital disorders affecting O-glycosylation. Comparison with two-dimensional electrophoresis.

2015-08 | Journal article
DOI: 10.1002/prca.201400187
PMID: 25641685
Contributors: Yen-Nicolaÿ S; Boursier C; Rio M; Lefeber DJ; Pilon A; Seta N; Bruneel A
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.

2015-03 | Journal article
DOI: 10.1111/cge.12361
PMID: 24635570
Contributors: Piard J; Aral B; Vabres P; Holder-Espinasse M; Mégarbané A; Gauthier S; Capra V; Pierquin G; Callier P; Baumann C et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

2015-02 | Journal article
DOI: 10.1002/ajmg.a.36887
PMID: 25604658
PMC: PMC4382202
Contributors: Crow YJ; Chase DS; Lowenstein Schmidt J; Szynkiewicz M; Forte GM; Gornall HL; Oojageer A; Anderson B; Pizzino A; Helman G et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.

2015-01 | Journal article
DOI: 10.1002/ajmg.a.36807
PMID: 25425167
Contributors: Nizon M; Andrieux J; Rooryck C; de Blois MC; Bourel-Ponchel E; Bourgois B; Boute O; David A; Delobel B; Duban-Bedu B et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.

2014-12 | Journal article
DOI: 10.1016/j.ajhg.2014.10.017
PMID: 25434004
PMC: PMC4259976
Contributors: Kopajtich R; Nicholls TJ; Rorbach J; Metodiev MD; Freisinger P; Mandel H; Vanlander A; Ghezzi D; Carrozzo R; Taylor RW et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.

2014-12 | Journal article
DOI: 10.1136/jmedgenet-2014-102532
PMID: 25351951
Contributors: Metodiev MD; Gerber S; Hubert L; Delahodde A; Chretien D; Gérard X; Amati-Bonneau P; Giacomotto MC; Boddaert N; Kaminska A et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Myhre and LAPS syndromes: clinical and molecular review of 32 patients.

2014-11 | Journal article
DOI: 10.1038/ejhg.2013.288
PMID: 24424121
PMC: PMC4200423
Contributors: Michot C; Le Goff C; Mahaut C; Afenjar A; Brooks AS; Campeau PM; Destree A; Di Rocco M; Donnai D; Hennekam R et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Myhre and LAPS syndromes: clinical and molecular review of 32 patients.

2014-11 | Journal article
PMC: PMC4200429
Contributors: Michot C; Le Goff C; Mahaut C; Afenjar A; Brooks AS; Campeau PM; Destree A; Di Rocco M; Donnai D; Hennekam R et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.

2014-10 | Journal article
DOI: 10.1093/brain/awu184
PMID: 25012220
Contributors: Bonneau D; Colin E; Oca F; Ferré M; Chevrollier A; Guéguen N; Desquiret-Dumas V; N'Guyen S; Barth M; Zanlonghi X et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations.

2014-07 | Journal article
DOI: 10.1136/jmedgenet-2013-102256
PMID: 24793058
Contributors: Bricout M; Grévent D; Lebre AS; Rio M; Desguerre I; De Lonlay P; Valayannopoulos V; Brunelle F; Rötig A; Munnich A et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.

2014-06 | Journal article
DOI: 10.1016/j.ajhg.2014.04.012
PMID: 24814191
PMC: PMC4121477
Contributors: Perrault I; Hamdan FF; Rio M; Capo-Chichi JM; Boddaert N; Décarie JC; Maranda B; Nabbout R; Sylvain M; Lortie A et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

2014-06 | Journal article
DOI: 10.1093/brain/awu082
PMID: 24860126
Contributors: Bahi-Buisson N; Poirier K; Fourniol F; Saillour Y; Valence S; Lebrun N; Hully M; Bianco CF; Boddaert N; Elie C et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

[Aspect of brain MRI in mitochondrial respiratory chain deficiency. A diagnostic algorithm of the most common mitochondrial genetic mutations].

2014-05 | Journal article
DOI: 10.1016/j.neurol.2014.03.006
PMID: 24768439
Contributors: Devaux-Bricout M; Grévent D; Lebre AS; Rio M; Desguerre I; De Lonlay P; Valayannopoulos V; Brunelle F; Rötig A; Munnich A et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.

2014-05 | Journal article
DOI: 10.1186/1750-1172-9-74
PMID: 24884629
PMC: PMC4113190
Contributors: Del Giudice E; Macca M; Imperati F; D'Amico A; Parent P; Pasquier L; Layet V; Lyonnet S; Stamboul-Darmency V; Thauvin-Robinet C et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Mitochondrial disorders and epilepsy.

2014-05 | Journal article
DOI: 10.1016/j.neurol.2014.03.010
PMID: 24810279
Contributors: Desguerre I; Hully M; Rio M; Nabbout R
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.

2014-04 | Journal article
DOI: 10.1002/humu.22517
PMID: 24470203
Contributors: Lehalle D; Gordon CT; Oufadem M; Goudefroye G; Boutaud L; Alessandri JL; Baena N; Baujat G; Baumann C; Boute-Benejean O et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.

2013 | Journal article
DOI: 10.1186/1750-1172-8-173
PMID: 24164873
PMC: PMC3843540
Contributors: Mignot C; Apartis E; Durr A; Marques Lourenço C; Charles P; Devos D; Moreau C; de Lonlay P; Drouot N; Burglen L et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency.

2013-12 | Journal article
DOI: 10.1016/j.ejmg.2013.09.013
PMID: 24095819
Contributors: Barcia G; Barnerias C; Rio M; Siquier-Pernet K; Desguerre I; Colleaux L; Munnich A; Rotig A; Nabbout R
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.

2013-08 | Journal article
DOI: 10.1093/hmg/ddt187
PMID: 23615299
PMC: PMC3723314
Contributors: Van Maldergem L; Hou Q; Kalscheuer VM; Rio M; Doco-Fenzy M; Medeira A; de Brouwer AP; Cabrol C; Haas SA; Cacciagli P et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.

2013-07 | Journal article
DOI: 10.1038/ejhg.2012.251
PMID: 23188044
PMC: PMC3722949
Contributors: El Chehadeh-Djebbar S; Blair E; Holder-Espinasse M; Moncla A; Frances AM; Rio M; Debray FG; Rump P; Masurel-Paulet A; Gigot N et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central

Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.

2013-07 | Journal article
DOI: 10.1111/cge.12036
PMID: 23061379
Contributors: Rio M; Royer G; Gobin S; de Blois MC; Ozilou C; Bernheim A; Nizon M; Munnich A; Bonnefont JP; Romana S et al.
Source: Self-asserted source
Marlene Rio via Europe PubMed Central
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