This ERN brings together experts in rare congenital malformations and rare intellectual disability disorders. Congenital malformations affect one in 40 babies. For more common malformations, such as cleft lip, there are well-established care networks. For rarer conditions, expertise is scattered across the EU. Many malformations occur together as part of ‘syndromes’ associated with abnormal growth, development or social adaptation. Over 8 000 syndromes have been described, and most occur at a frequency of less than 1 in 2 000.

Chromosome disorders are one of the commonest causes of malformations and intellectual disability. New tests, such as exome and genome sequencing, have improved the prospects of diagnosis but are not routinely available in more than 50 % of highly specialised centres.

Expanding access to this technology is a key goal of ERN ITHACA. The network is also developing telehealth initiatives with virtual multidisciplinary teams across EU centres, and will use virtual online clinics to improve access to diagnostics without requiring patients to travel.

ERN ITHACA will network parents and patients to develop best practice and initiate guideline development where required. It will establish criteria for patient registry data, advance training for health professionals and facilitate research. The network will work with existing networks in the field and with ERNs with whom there are complementary interests, while keeping patients at the centre of its activities.


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Below an overview is given of scientific publications related to ERN ITHACA. Publications were obtained from the PubMed database. All publications where one of the authors has an affiliation link where "ERN ITHACA" is mentioned, are added to the publication overview automatically. Updates are performed once a week.

Filter list publications

TitleAuthorsDateKeywordsIssue name
Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome.Totten V, Teixido-Tura G, Lopez-Grondona F, Fernandez-Alvarez P, Lasa-Aranzasti A, Muñoz-Cabello P, Kosaki R, Tizzano EF, Dewals W, Borràs E, Cañas EG, Almoguera B, Loeys B, Valenzuena I2024-07-02Aneurysm, Cardiovascular Diseases, Exome SequencingJournal of medical genetics
Genetic counselling legislation and practice in cancer in EU Member States.McCrary JM, Van Valckenborgh E, Poirel HA, de Putter R, van Rooij J, Horgan D, Dierks ML, Antonova O, Brunet J, Chirita-Emandi A, Colas C, Dalmas M, Ehrencrona H, Grima C, Janavičius R, Klink B, Koczok K, Krajc M, Lace B, Leitsalu L, Mistrik M, Paneque M, Primorac D, Roetzer KM, Ronez J, Slámová L, Spanou E, Stamatopoulos K, Stoklosa T, Strang-Karlsson S, Szakszon K, Szczałuba K, Turner J, van Dooren MF, van Zelst-Stams WAG, Vassallo LM, Wadt KAW, Žigman T, Ripperger T, Genuardi M, Van den Bulcke M, Bergmann AK2024-06-21European journal of public health
Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.Lasa-Aranzasti A, Larasati YA, da Silva Cardoso J, Solis GP, Koval A, Cazurro-Gutiérrez A, Ortigoza-Escobar JD, Miranda MC, De la Casa-Fages B, Moreno-Galdó A, Tizzano EF, Gómez-Andrés D, Verdura E, Katanaev VL, Pérez-Dueñas B2024-06-16GNAO1 pathogenic variant, G‐protein, clinical phenotype, molecular etiology, movement disordersMovement disorders : official journal of the Movement Disorder Society
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.Cuinat S, Quélin C, Effray C, Dubourg C, Le Bouar G, Cabaret-Dufour AS, Loget P, Proisy M, Sauvestre F, Sarreau M, Martin-Berenguer S, Beneteau C, Naudion S, Michaud V, Arveiler B, Trimouille A, Macé P, Sigaudy S, Glazunova O, Torrents J, Raymond L, Saint-Frison MH, Attié-Bitach T, Lefebvre M, Capri Y, Bourgon N, Thauvin-Robinet C, Tran Mau-Them F, Bruel AL, Vitobello A, Denommé-Pichon AS, Faivre L, Brehin AC, Goldenberg A, Patrier-Sallebert S, Perani A, Dauriat B, Bourthoumieu S, Yardin C, Marquet V, Barnique M, Fiorenza-Gasq M, Marey I, Tournadre D, Doumit R, Nugues F, Barakat TS, Bustos F, Jaillard S, Launay E, Pasquier L, Odent S2024-06-07Exome Sequencing, Genetic Diseases, Inborn, Genetic Diseases, X-Linked, Genetics, GenomicsJournal of medical genetics
Improving care for rare genetic neurodevelopmental disorders: A systematic review and critical appraisal of clinical practice guidelines using AGREE II.Klein Haneveld MJ, Hieltjes IJ, Langendam MW, Cornel MC, Gaasterland CMW, van Eeghen AM2024-04-01Clinical practice guidelines, Evidence-based medicine, Genetic syndromes, Intellectual disability, Rare diseaseGenetics in medicine : official journal of the American College of Medical Genetics
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.Hannes L, Atzori M, Goldenberg A, Argente J, Attie-Bitach T, Amiel J, Attanasio C, Braslavsky DG, Bruel AL, Castanet M, Dubourg C, Jacobs A, Lyonnet S, Martinez-Mayer J, Pérez Millán MI, Pezzella N, Pelgrims E, Aerden M, Bauters M, Rochtus A, Scaglia P, Swillen A, Sifrim A, Tammaro R, Mau-Them FT, Odent S, Thauvin-Robinet C, Franco B, Breckpot J2024-04-01Differential Splicing, Holoprosencephaly, Minor Spliceosome, Orofaciodigital Syndrome, ZRSR2Genetics in medicine : official journal of the American College of Medical Genetics
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC2024-03-26Genetic Diseases, Inborn, Genetics, Medical, Mental Disorders, PhenotypeJournal of medical genetics
DISP1 deficiency: monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.Lavillaureix A, Rollier P, Kim A, Panasenkava V, De Tayrac M, Carré W, Guyodo H, Faoucher M, Poirel E, Akloul L, Quelin C, Whalen S, Bos J, Broekema M, van Hagen JM, Grand K, Allen-Sharpley M, Magness E, McLean S, Kayserili H, Altunoglu U, En Qi Chong A, Xue S, Jeanne M, Almontashiri N, Habhab W, Vanlerberghe C, Faivre L, Viora Dupont E, Philippe C, Safraou H, Laffargue F, Mittendorf L, Abou Jamra R, Patil SJ, Dalal A, Sarma AS, Keren B, Reversade B, Dubourg C, Odent S, Dupé V2024-03-23SHH, congenital nasal piriform aperture stenosis, holoprosencephaly, midline defects, solitary median maxillary central incisorGenetics in medicine : official journal of the American College of Medical Genetics
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy.Estévez-Arias B, Matalonga L, Martorell L, Codina A, Ortez C, Carrera-García L, Expósito-Escudero J, Yubero D, Hoenicka J, Jou C, Palau F, Beltran S, Lochmüller H, Töpf A, Nascimento A, Natera-de Benito D2024-03-10Congenital myopathy, , RYR1, genome sequencing, mosaicismJournal of neuromuscular diseases
Genetics of inborn errors of immunity: Diagnostic strategies and new approaches to CNV detection.Pérez EM, Torbay AG, López MS, de la Cámara RCM, Jiménez CR, Álvarez MÁM, Blanco JN, Gianelli C, Hijón CC, Granados EL, Pena RR, Del Pozo Mate Á, García-Morato MB2024-03-05CNVs, deletions, genetic diagnosis, inborn errors of immunity (IEI), primary immune deficiency diseases (PIDDs)European journal of clinical investigation
Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2.Pérez-Jurado LA, Cáceres A, Balagué-Dobón L, Esko T, López de Heredia M, Quintela I, Cruz R, Lapunzina P, Carracedo Á, González JR2024-02-19Communications biology
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.Szakszon K, Lourenco CM, Callewaert BL, Geneviève D, Rouxel F, Morin D, Denommé-Pichon AS, Vitobello A, Patterson WG, Louie R, Pinto E Vairo F, Klee E, Kaiwar C, Gavrilova RH, Agre KE, Jacquemont S, Khadijé J, Giltay J, van Gassen K, Merő G, Gerkes E, Van Bon BW, Rinne T, Pfundt R, Brunner HG, Caluseriu O, Grasshoff U, Kehrer M, Haack TB, Khelifa MM, Bergmann AK, Cueto-González AM, Martorell AC, Ramachandrappa S, Sawyer LB, Fasel P, Braun D, Isis A, Superti-Furga A, McNiven V, Chitayat D, Ahmed SA, Brennenstuhl H, Schwaibolf EM, Battisti G, Parmentier B, Stevens SJC2024-01-19Behaviour and Behaviour Mechanisms, Epilepsy, Genetic Counselling, Paediatrics, PsychiatryJournal of medical genetics
Intellectual Disability and Behavioral Deficits Linked to CYFIP1 Missense Variants Disrupting Actin Polymerization.Mariano V, Kanellopoulos AK, Ricci C, Di Marino D, Borrie SC, Dupraz S, Bradke F, Achsel T, Legius E, Odent S, Billuart P, Bienvenu T, Bagni C2024-01-15Actin remodeling, Autism spectrum disorder, CYFIP1, Drosophila, Motor impairment, Social deficitsBiological psychiatry
A comprehensive analysis concerning eating behavior associated with chronic diseases among Romanian community nurses.Onofrei LM, Puiu M, Chirita-Emandi A, Serban CL2024-01-01chronic diseases, community nurses, eating behavior, high carbohydrate diet, intuitive eating, low carbohydrate diet score, non-communicable diseasesFrontiers in public health
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.Sabbagh Q, Haghshenas S, Piard J, Trouvé C, Amiel J, Attié-Bitach T, Balci T, Barat-Houari M, Belonis A, Boute O, Brightman DS, Bruel AL, Caraffi SG, Chatron N, Collet C, Dufour W, Edery P, Fong CT, Fusco C, Gatinois V, Gouy E, Guerrot AM, Heide S, Joshi A, Karp N, Keren B, Lesieur-Sebellin M, Levy J, Levy MA, Lozano C, Lyonnet S, Margot H, Marzin P, McConkey H, Michaud V, Nicolas G, Nizard M, Paulet A, Peluso F, Pernin V, Perrin L, Philippe C, Prasad C, Prasad M, Relator R, Rio M, Rondeau S, Ruault V, Ruiz-Pallares N, Sanchez E, Shears D, Siu VM, Sorlin A, Tedder M, Tharreau M, Mau-Them FT, van der Laan L, Van Gils J, Verloes A, Whalen S, Willems M, Yauy K, Zuntini R, Kerkhof J, Sadikovic B, Geneviève D2024-01-01BCL11B, Epigenetic signature, Neurodevelopmental delay, T cellsGenetics in medicine : official journal of the American College of Medical Genetics
A Novel AIFM1-Related Disorder Phenotype Treated with Deep Brain Stimulation.Pijuan J, Sevrioukova IF, García-Campos Ó, Hernaez M, Gort L, Gómez-Chiari M, Jou C, Candela-Cantó S, Rumiá J, Artuch R, Palau F, Hoenicka J, Ortigoza-Escobar JD2024-01-01Movement disorders : official journal of the Movement Disorder Society
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders.Riquin K, Isidor B, Mercier S, Nizon M, Colin E, Bonneau D, Pasquier L, Odent S, Le Guillou Horn XM, Le Guyader G, Toutain A, Meyer V, Deleuze JF, Pichon O, Doco-Fenzy M, Bézieau S, Cogné B2023-12-21Central Nervous System Diseases, Clinical Laboratory Techniques, Genetic Research, Genetic Testing, GenomicsJournal of medical genetics
Mayer-Rokitansky-Küster-Hauser syndrome patients' interest, expectations and demands concerning uterus transplantation.Sousa C, Carton I, Jaillard S, Cospain A, Lavillaureix A, Nyangoh Timoh K, Juricic M, Lavoué V, Dion L2023-12-01Infertility, Mayer-Rokitansky-Küster-Hauser syndrome, Nation-wide survey, Uterus transplantationJournal of gynecology obstetrics and human reproduction
HLA-A*11:01 and HLA-C*04:01 are associated with severe COVID-19.Castro-Santos P, Rojas-Martinez A, Riancho JA, Lapunzina P, Flores C, Carracedo Á, Díaz-Peña R2023-12-01COVID-19, HLA evolutionary divergence, HLA-A*11:01, HLA-C*04:01, SARS-CoV-2, immunogeneticsHLA
Artificial Intelligence Procedure for the Screening of Genetic Syndromes Based on Voice Characteristics.Calà F, Frassineti L, Sforza E, Onesimo R, D'Alatri L, Manfredi C, Lanata A, Zampino G2023-11-29acoustical analysis, artificial intelligence, classification, genetic syndrome, machine learningBioengineering (Basel, Switzerland)
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK, Kleefstra T2023-11-01Genetics in medicine : official journal of the American College of Medical Genetics
Gaboxadol in angelman syndrome: A double-blind, parallel-group, randomized placebo-controlled phase 3 study.Keary C, Bird LM, de Wit MC, Hatti S, Heimer G, Heussler H, Kolevzon A, Mathews A, Ochoa-Lubinoff C, Tan WH, Yan Y, Adams M2023-11-01Angelman syndrome, Gaboxadol, Neuronal ubiquitin protein ligase E3AEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Changes in French family medicine residents' perspectives about patient partners' participation in teaching: A qualitative study in co-facilitated practice exchange groups.Guary J, Hébert P, Maury A, Le Ridant M, Renaut P, Odent S, Fiquet L, Allory E2023-11-01Patient participation, general practice, medical education, medical student, qualitative researchMedical teacher
Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature.Gallego-Zazo N, Miranda-Alcaraz L, Cruz-Utrilla A, Del Cerro Marín MJ, Álvarez-Fuente M, Del Mar Rodríguez Vázquez Del Rey M, Guillén Rodríguez I, Becerra-Munoz VM, Moya-Bonora A, Ochoa Parra N, Parra A, Pascual P, Cazalla M, Silván C, Arias P, Valverde D, de Jesús-Pérez V, Lapunzina P, Escribano-Subías P, Tenorio-Castano J2023-10-20SOX17, cardiovascular disorders, congenital heart disease, genomic medicine, personalized medicine, pulmonary arterial hypertension, whole exome sequencingGenes
A New Frameshift Mutation of PTEN Gene Associated with Cowden Syndrome-Case Report and Brief Review of the Literature.Jurca CM, Frățilă O, Iliaș T, Jurca A, Cătana A, Moisa C, Jurca AD2023-10-05Cowden syndrome, PTEN gene, hamartomas, intestinal polypsGenes
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fakhari D, Houlden H, Maroofian R2023-08-01AMC5, NDD, Torsin-1A, arthrogryposis multiplex congenita 5, biallelic variationBrain : a journal of neurology
Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis.Ertl DA, Mantovani G, de Nanclares GP, Elli FM, Pereda A, Pagnano A, Sanchis A, Cueto-Gonzalez AM, Berrade S, León MC, Rothenbuhler A, Audrain C, Berkenou J, Knight N, Dolman K, Gleiss A, Argente J, Linglart A2023-08-01Acrodysostosis, Auxology, Inactivating PTH/PTHrP signaling disorders, Pediatric, Recombinant human growth hormone, SGA, Short statureJournal of endocrinological investigation
Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19.Pairo-Castineira E, Rawlik K, Bretherick AD, Qi T, Wu Y, Nassiri I, McConkey GA, Zechner M, Klaric L, Griffiths F, Oosthuyzen W, Kousathanas A, Richmond A, Millar J, Russell CD, Malinauskas T, Thwaites R, Morrice K, Keating S, Maslove D, Nichol A, Semple MG, Knight J, Shankar-Hari M, Summers C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM, Begg C, Walsh T, Tenesa A, Flores C, Riancho JA, Rojas-Martinez A, Lapunzina P, Yang J, Ponting CP, Wilson JF, Vitart V, Abedalthagafi M, Luchessi AD, Parra EJ, Cruz R, Carracedo A, Fawkes A, Murphy L, Rowan K, Pereira AC, Law A, Fairfax B, Hendry SC, Baillie JK2023-07-01Nature
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.Wojcik MH, Srivastava S, Agrawal PB, Balci TB, Callewaert B, Calvo PL, Carli D, Caudle M, Colaiacovo S, Cross L, Demetriou K, Drazba K, Dutra-Clarke M, Edwards M, Genetti CA, Grange DK, Hickey SE, Isidor B, Küry S, Lachman HM, Lavillaureix A, Lyons MJ, Marcelis C, Marco EJ, Martinez-Agosto JA, Nowak C, Pizzol A, Planes M, Prijoles EJ, Riberi E, Rush ET, Russell BE, Sachdev R, Schmalz B, Shears D, Stevenson DA, Wilson K, Jansen S, de Vries BBA, Curry CJ2023-07-01Jansen-de Vries syndrome, PPM1D, cyclic vomiting, developmental delay, hypersocial personalityAmerican journal of medical genetics. Part A
Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey.Landlust AM, Koza SA, Carbin M, Walinga M, Robert S, Cooke J, Vyshka K, van Balkom IDC, van Ravenswaaij-Arts C2023-07-01Guideline, Parental stress, Parental survey, Phelan-McDermid syndrome, SHANK3European journal of medical genetics
Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome.van Eeghen AM, Stemkens D, Fernández-Fructuoso JR, Maruani A, Hadzsiev K, van Balkom IDC2023-07-01Centre of expertise, Guideline, Intellectual disability, Organization of care, Phelan-McDermid syndromeEuropean journal of medical genetics
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.Denommé-Pichon AS, Collins SC, Bruel AL, Mikhaleva A, Wagner C, Vancollie VE, Thomas Q, Chevarin M, Weber M, Prada CE, Overs A, Palomares-Bralo M, Santos-Simarro F, Pacio-Míguez M, Busa T, Legius E, Bacino CA, Rosenfeld JA, Le Guyader G, Egloff M, Le Guillou X, Mencarelli MA, Renieri A, Grosso S, Levy J, Dozières B, Desguerre I, Vitobello A, Duffourd Y, Lelliott CJ, Thauvin-Robinet C, Philippe C, Faivre L, Yalcin B2023-07-0114-3-3, Brain abnormalities, Miller-Dieker syndrome, Neurodevelopmental disorders, YWHAEGenetics in medicine : official journal of the American College of Medical Genetics
Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders.Carrasco E, López-Fernández A, Codina-Sola M, Valenzuela I, Cueto-González AM, Villacampa G, Navarro V, Torres-Esquius S, Palau D, Cruellas M, Torres M, Perez-Dueñas B, Abulí A, Diez O, Sábado-Álvarez C, García-Arumí E, Tizzano EF, Moreno L, Balmaña J2023-07-01Disease Management, Genetic Counseling, Genetic Predisposition to Disease, Genetic Testing, Genetics, MedicalJournal of medical genetics
Psychiatric polygenic risk as a predictor of COVID-19 risk and severity: insight into the genetic overlap between schizophrenia and COVID-19.Alemany-Navarro M, Diz-de Almeida S, Cruz R, Riancho JA, Rojas-Martínez A, Lapunzina P, Flores C, Carracedo A2023-06-06Translational psychiatry
GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19.Pairo-Castineira E, Rawlik K, Bretherick AD, Qi T, Wu Y, Nassiri I, McConkey GA, Zechner M, Klaric L, Griffiths F, Oosthuyzen W, Kousathanas A, Richmond A, Millar J, Russell CD, Malinauskas T, Thwaites R, Morrice K, Keating S, Maslove D, Nichol A, Semple MG, Knight J, Shankar-Hari M, Summers C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM, Begg C, Walsh T, Tenesa A, Flores C, Riancho JA, Rojas-Martinez A, Lapunzina P, Yang J, Ponting CP, Wilson JF, Vitart V, Abedalthagafi M, Luchessi AD, Parra EJ, Cruz R, Carracedo A, Fawkes A, Murphy L, Rowan K, Pereira AC, Law A, Fairfax B, Hendry SC, Baillie JK2023-05-01Nature
Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites.Cantarero L, García-Vargas G, Hoenicka J, Palau F2023-04-15Charcot-Marie-Tooth disease, GDAP1, Lysosome, Membrane contact sites, MitochondriaBiology open
Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants.Natera-de Benito D, Olival J, Garcia-Cabau C, Jou C, Roldan M, Codina A, Expósito-Escudero J, Batlle C, Carrera-García L, Ortez C, Salvatella X, Palau F, Nascimento A, Hoenicka J2023-03-01Annals of clinical and translational neurology
Tuberous Sclerosis, Type II Diabetes Mellitus and the PI3K/AKT/mTOR Signaling Pathways-Case Report and Literature Review.Jurca CM, Kozma K, Petchesi CD, Zaha DC, Magyar I, Munteanu M, Faur L, Jurca A, Bembea D, Severin E, Jurca AD2023-02-08Metformin, TSC1, TSC2, epilepsy, hamartomas, tuberous sclerosis, type 2 diabetes mellitusGenes
Gene Editing Corrects In Vitro a G > A GLB1 Transition from a GM1 Gangliosidosis Patient.Leclerc D, Goujon L, Jaillard S, Nouyou B, Cluzeau L, Damaj L, Dubourg C, Etcheverry A, Levade T, Froissart R, Dréano S, Guillory X, Eriksson LA, Launay E, Mouriaux F, Belaud-Rotureau MA, Odent S, Gilot D2023-02-01The CRISPR journal
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.Codina-Solà M, Trujillano L, Abulí A, Rovira-Moreno E, Muñoz-Cabello P, Campos B, Fernández-Álvarez P, Palau D, Carrasco E, Valenzuela I, Cueto-González AM, Lasa-Aranzasti A, Limeres J, Leno-Colorado J, Costa-Roger M, Moles-Fernández A, Balmaña J, Díez O, Cuscó I, Garcia-Arumí E, Tizzano EF2023-02-01European journal of human genetics : EJHG
Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability-Data from a Romanian Cohort.Streață I, Caramizaru A, Riza AL, Șerban-Sosoi S, Pîrvu A, Cara ML, Cucu MG, Dobrescu AM, Ro-Nmca-Id Group, CExBR Pediatric Neurology Obregia Group, CExBR Pediatric Neurology V Gomoiu Hospital Group, Shelby ES, Albeanu A, Burada F, Ioana M2022-12-12CNV, chromosome microarray analysis, global developmental delay, intellectual disability, microdeletion/microduplicationDiagnostics (Basel, Switzerland)
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.Cospain A, Rivera-Barahona A, Dumontet E, Gener B, Bailleul-Forestier I, Meyts I, Jouret G, Isidor B, Brewer C, Wuyts W, Moens L, Delafontaine S, Keung Lam WW, Van Den Bogaert K, Boogaerts A, Scalais E, Besnard T, Cogne B, Guissard C, Rollier P, Carre W, Bouvet R, Tarte K, Gómez-Carmona R, Lapunzina P, Odent S, Faoucher M, Dubourg C, Ruiz-Pérez VL, Devriendt K, Pasquier L, Pérez-Jurado LA2022-12-01AP-1 complex, Adams-Oliver syndrome, Aplasia cutis congenita of scalp, Enamel hypoplasia, FOSL2Genetics in medicine : official journal of the American College of Medical Genetics
Novel genes and sex differences in COVID-19 severity.Cruz R, Diz-de Almeida S, López de Heredia M, Quintela I, Ceballos FC, Pita G, Lorenzo-Salazar JM, González-Montelongo R, Gago-Domínguez M, Sevilla Porras M, Tenorio Castaño JA, Nevado J, Aguado JM, Aguilar C, Aguilera-Albesa S, Almadana V, Almoguera B, Alvarez N, Andreu-Bernabeu Á, Arana-Arri E, Arango C, Arranz MJ, Artiga MJ, Baptista-Rosas RC, Barreda-Sánchez M, Belhassen-Garcia M, Bezerra JF, Bezerra MAC, Boix-Palop L, Brion M, Brugada R, Bustos M, Calderón EJ, Carbonell C, Castano L, Castelao JE, Conde-Vicente R, Cordero-Lorenzana ML, Cortes-Sanchez JL, Corton M, Darnaude MT, De Martino-Rodríguez A, Del Campo-Pérez V, Diaz de Bustamante A, Domínguez-Garrido E, Luchessi AD, Eiros R, Estigarribia Sanabria GM, Carmen Fariñas M, Fernández-Robelo U, Fernández-Rodríguez A, Fernández-Villa T, Gil-Fournier B, Gómez-Arrue J, González Álvarez B, Gonzalez Bernaldo de Quirós F, González-Peñas J, Gutiérrez-Bautista JF, Herrero MJ, Herrero-Gonzalez A, Jimenez-Sousa MA, Lattig MC, Liger Borja A, Lopez-Rodriguez R, Mancebo E, Martín-López C, Martín V, Martinez-Nieto O, Martinez-Lopez I, Martinez-Resendez MF, Martinez-Perez A, Mazzeu JF, Merayo Macías E, Minguez P, Moreno Cuerda V, Silbiger VN, Oliveira SF, Ortega-Paino E, Parellada M, Paz-Artal E, Santos NPC, Pérez-Matute P, Perez P, Pérez-Tomás ME, Perucho T, Pinsach-Abuin ML, Pompa-Mera EN, Porras-Hurtado GL, Pujol A, Ramiro León S, Resino S, Fernandes MR, Rodríguez-Ruiz E, Rodriguez-Artalejo F, Rodriguez-Garcia JA, Ruiz Cabello F, Ruiz-Hornillos J, Ryan P, Soria JM, Souto JC, Tamayo E, Tamayo-Velasco A, Taracido-Fernandez JC, Teper A, Torres-Tobar L, Urioste M, Valencia-Ramos J, Yáñez Z, Zarate R, Nakanishi T, Pigazzini S, Degenhardt F, Butler-Laporte G, Maya-Miles D, Bujanda L, Bouysran Y, Palom A, Ellinghaus D, Martínez-Bueno M, Rolker S, Amitrano S, Roade L, Fava F, Spinner CD, Prati D, Bernardo D, Garcia F, Darcis G, Fernández-Cadenas I, Holter JC, Banales JM, Frithiof R, Duga S, Asselta R, Pereira AC, Romero-Gómez M, Nafría-Jiménez B, Hov JR, Migeotte I, Renieri A, Planas AM, Ludwig KU, Buti M, Rahmouni S, Alarcón-Riquelme ME, Schulte EC, Franke A, Karlsen TH, Valenti L, Zeberg H, Richards B, Ganna A, Boada M, de Rojas I, Ruiz A, Sánchez-Juan P, Real LM, Guillen-Navarro E, Ayuso C, González-Neira A, Riancho JA, Rojas-Martinez A, Flores C, Lapunzina P, Carracedo A2022-11-10Human molecular genetics
Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients.Caino S, Cubilla MA, Alba R, Obregón MG, Fano V, Gómez A, Zecchini L, Lapunzina P, Aza-Carmona M, Heath KE, Asteggiano CG2022-11-07EXT1/EXT2-CDG, O-glycosylation disorders, multiple exostosis, multiple osteochondromatosis, osteochondromaGenes
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.Mackay D, Bliek J, Kagami M, Tenorio-Castano J, Pereda A, Brioude F, Netchine I, Papingi D, de Franco E, Lever M, Sillibourne J, Lombardi P, Gaston V, Tauber M, Diene G, Bieth E, Fernandez L, Nevado J, Tümer Z, Riccio A, Maher ER, Beygo J, Tannorella P, Russo S, de Nanclares GP, Temple IK, Ogata T, Lapunzina P, Eggermann T2022-11-07Genetic testing, Imprinting disorders, Multi-locus imprinting disorder, Multi-locus testing, Overlapping phenotypes, Unexpected molecular diagnosisClinical epigenetics
[Severity of COVID-19 attributable to obesity according to BMI and CUN-BAE].Fernández Crespo S, Pérez-Matute P, Íñiguez Martínez M, Fernández-Villa T, Domínguez-Garrido E, Oteo JA, Marcos-Delgado A, Flores C, Riancho JA, Rojas-Martínez A, Lapunzina P, Carracedo Á2022-11-01Body fat, COVID-19, CUN-BAE, Fracción atribuible poblacional., Grasa corporal, Gravedad, Obesidad, Obesity, Population attributable fraction, SeveritySemergen
Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.Heddar A, Ogur C, Da Costa S, Braham I, Billaud-Rist L, Findikli N, Beneteau C, Reynaud R, Mahmoud K, Legrand S, Marchand M, Cedrin-Durnerin I, Cantalloube A, Peigne M, Bretault M, Dagher-Hayeck B, Perol S, Droumaguet C, Cavkaytar S, Nicolas-Bonne C, Elloumi H, Khrouf M, Rougier-LeMasle C, Fradin M, Le Boette E, Luigi P, Guerrot AM, Ginglinger E, Zampa A, Fauconnier A, Auger N, Paris F, Brischoux-Boucher E, Cabrol C, Brun A, Guyon L, Berard M, Riviere A, Gruchy N, Odent S, Gilbert-Dussardier B, Isidor B, Piard J, Lambert L, Hamamah S, Guedj AM, Brac de la Perriere A, Fernandez H, Raffin-Sanson ML, Polak M, Letur H, Epelboin S, Plu-Bureau G, Wołczyński S, Hieronimus S, Aittomaki K, Catteau-Jonard S, Misrahi M2022-10-01Meiosis/DNA repair genes, Mitophagy, NF-KB, Personalized medicine, Post - translational regulation, Primary ovarian insufficiencyEBioMedicine
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK, Kleefstra T2022-10-01ANKRD11, Genotype–phenotype study, KBG syndrome, Missense variants, Neurodevelopmental disordersGenetics in medicine : official journal of the American College of Medical Genetics
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.Küry S, Zhang J, Besnard T, Caro-Llopis A, Zeng X, Robert SM, Josiah SS, Kiziltug E, Denommé-Pichon AS, Cogné B, Kundishora AJ, Hao LT, Li H, Stevenson RE, Louie RJ, Deb W, Torti E, Vignard V, McWalter K, Raymond FL, Rajabi F, Ranza E, Grozeva D, Coury SA, Blanc X, Brischoux-Boucher E, Keren B, Õunap K, Reinson K, Ilves P, Wentzensen IM, Barr EE, Guihard SH, Charles P, Seaby EG, Monaghan KG, Rio M, van Bever Y, van Slegtenhorst M, Chung WK, Wilson A, Quinquis D, Bréhéret F, Retterer K, Lindenbaum P, Scalais E, Rhodes L, Stouffs K, Pereira EM, Berger SM, Milla SS, Jaykumar AB, Cobb MH, Panchagnula S, Duy PQ, Vincent M, Mercier S, Gilbert-Dussardier B, Le Guillou X, Audebert-Bellanger S, Odent S, Schmitt S, Boisseau P, Bonneau D, Toutain A, Colin E, Pasquier L, Redon R, Bouman A, Rosenfeld JA, Friez MJ, Pérez-Peña H, Akhtar Rizvi SR, Haider S, Antonarakis SE, Schwartz CE, Martínez F, Bézieau S, Kahle KT, Isidor B2022-09-01Exome sequencing, KCC2, Neurodevelopmental disease, WNK3, X-linked intellectual disabilityGenetics in medicine : official journal of the American College of Medical Genetics
Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific CNOT1 Variant.Cospain A, Faoucher M, Cauchois A, Carre W, Quelin C, Dubourg C2022-09-01CNOT1, congenital malformation, fetal autopsy, holoprosencephaly, pancreas agenesis/hypoplasia, post-mortem examinationPediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience.Douzgou S, Dell'Oro J, Fonseca CR, Rei A, Mullins J, Jusiewicz I, Huisman S, Simpson BN, Vyshka K, Milani D, Bartsch O, Lacombe D, García-Miñaúr S, Hennekam RCM2022-07-01European journal of human genetics : EJHG
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.Acharya A, Kavus H, Dunn P, Nasir A, Folk L, Withrow K, Wentzensen IM, Ruzhnikov MRZ, Fallot C, Smol T, Rama M, Brown K, Whalen S, Ziegler A, Barth M, Chassevent A, Smith-Hicks C, Afenjar A, Courtin T, Heide S, Font-Montgomery E, Heid C, Hamm JA, Love DR, Thabet F, Misra VK, Cunningham M, Leal SM, Jarvela I, Normand EA, Zou F, Helal M, Keren B, Torti E, Chung WK, Schrauwen I2022-07-01genetic variation, human genetics, neurology, phenotypeJournal of medical genetics
A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1.Sabbagh Q, Alkar F, Patte K, Prodhomme O, Janel C, Touraine R, Jeandel C, Geneviève D2022-06-01GNPNAT1, Heparan sulfate, Skeletal disorder, Spondyloepimetaphyseal dysplasiaEuropean journal of medical genetics
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S2022-05-01The Journal of molecular diagnostics : JMD
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.Chesneau B, Aubert-Mucca M, Fremont F, Pechmeja J, Soler V, Isidor B, Nizon M, Dollfus H, Kaplan J, Fares-Taie L, Rozet JM, Busa T, Lacombe D, Naudion S, Amiel J, Rio M, Attie-Bitach T, Lesage C, Thouvenin D, Odent S, Morel G, Vincent-Delorme C, Boute O, Vanlerberghe C, Dieux A, Boussion S, Faivre L, Pinson L, Laffargue F, Le Guyader G, Le Meur G, Prieur F, Lambert V, Laudier B, Cottereau E, Ayuso C, Corton-Pérez M, Bouneau L, Le Caignec C, Gaston V, Jeanton-Scaramouche C, Dupin-Deguine D, Calvas P, Chassaing N, Plaisancié J2022-05-01B3GLCT, CNV, CYP1B1, FOXE3, PAX6, PITX3, Peters' anomaly, SOX2, anterior segment dysgenesis, microphthalmiaClinical genetics
CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.Rouxel F, Relator R, Kerkhof J, McConkey H, Levy M, Dias P, Barat-Houari M, Bednarek N, Boute O, Chatron N, Cherik F, Delahaye-Duriez A, Doco-Fenzy M, Faivre L, Gauthier LW, Heron D, Hildebrand MS, Lesca G, Lespinasse J, Mazel B, Menke LA, Morgan AT, Pinson L, Quelin C, Rossi M, Ruiz-Pallares N, Tran-Mau-Them F, Van Kessel IN, Vincent M, Weber M, Willems M, Leguyader G, Sadikovic B, Genevieve D2022-05-01CDK13, CHDFIDD, Clinical, Epigenetic, SignatureGenetics in medicine : official journal of the American College of Medical Genetics
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, Lapunzina P2022-05-01genetics, new therapeutic approaches, novel genes, rare diseases, research networkClinical genetics
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network.Denommé-Pichon AS, Vitobello A, Olaso R, Ziegler A, Jeanne M, Tran Mau-Them F, Couturier V, Racine C, Isidor B, Poë C, Jouan T, Boland A, Fin B, Bacq-Daian D, Besse C, Garde A, Prost A, Garret P, Tisserant É, Delanne J, Nambot S, Juven A, Gorce M, Nizon M, Vincent M, Moutton S, Fradin M, Lavillaureix A, Rollier P, Capri Y, Van-Gils J, Busa T, Sigaudy S, Pasquier L, Barth M, Bruel AL, Flamant C, Prouteau C, Bonneau D, Toutain A, Chantegret C, Callier P, Philippe C, Duffourd Y, Deleuze JF, Sorlin A, Faivre L, Thauvin-Robinet C2022-05-01European journal of human genetics : EJHG
DNA methylation episignature in Gabriele-de Vries syndrome.Cherik F, Reilly J, Kerkhof J, Levy M, McConkey H, Barat-Houari M, Butler KM, Coubes C, Lee JA, Le Guyader G, Louie RJ, Patterson WG, Tedder ML, Bak M, Hammer TB, Craigen W, Démurger F, Dubourg C, Fradin M, Franciskovich R, Frengen E, Friedman J, Palares NR, Iascone M, Misceo D, Monin P, Odent S, Philippe C, Rouxel F, Saletti V, Strømme P, Thulin PC, Sadikovic B, Genevieve D2022-04-01DNA methylation, Epigenetics, Gabriele-de Vries syndrome, Intellectual disability, YY1Genetics in medicine : official journal of the American College of Medical Genetics
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.Eggermann T, Yapici E, Bliek J, Pereda A, Begemann M, Russo S, Tannorella P, Calzari L, de Nanclares GP, Lombardi P, Temple IK, Mackay D, Riccio A, Kagami M, Ogata T, Lapunzina P, Monk D, Maher ER, Tümer Z2022-03-16Beckwith–Wiedemann syndrome spectrum, Differentially methylated regions, Epimutations, Gain of methylation, Growth disturbances, Imprinting disorders, Loss of methylation, Multi locus imprinting disturbance, Silver–Russell syndrome spectrum, Transient neonatal diabetes mellitus, Uniparental disomyClinical epigenetics
Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.Jordan P, Dorval G, Arrondel C, Morinière V, Tournant C, Audrezet MP, Michel-Calemard L, Putoux A, Lesca G, Labalme A, Whalen S, Loeuillet L, Martinovic J, Attie-Bitach T, Bessières B, Schaefer E, Scheidecker S, Lambert L, Beneteau C, Patat O, Boute-Benejean O, Molin A, Guimiot F, Fontanarosa N, Nizon M, Lefebvre M, Jeanpierre C, Saunier S, Heidet L2022-03-01NGS targeted RNA sequencing, congenital abnormalities of the kidney and urinary tract, fetal renal diseases, renal ciliopathies, renal tubular dysgenesisHuman mutation
Correspondence on "Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype" by Zanoni et al.Cueto-González AM, Fernández-Álvarez P, Palafoll IV, Lasa-Aranzasti A, Vendrell Bayona T, Tizzano EF2022-03-01Genetics in medicine : official journal of the American College of Medical Genetics
Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2.Valenzuela I, Guillén Benítez E, Sanchez-Montanez A, Limeres J, López-Grondona F, Cuscó I, Tizzano EF2022-03-01PACS2, dilated cardiomyopathy, pathogenic variant, phenotype, slender habitus, vein of Galen aneurysmal malformationAmerican journal of medical genetics. Part A
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.Vibert R, Mignot C, Keren B, Chantot-Bastaraud S, Portnoï MF, Nouguès MC, Moutard ML, Faudet A, Whalen S, Haye D, Garel C, Chatron N, Rossi M, Vincent-Delorme C, Boute O, Delobel B, Andrieux J, Devillard F, Coutton C, Puechberty J, Pebrel-Richard C, Colson C, Gerard M, Missirian C, Sigaudy S, Busa T, Doco-Fenzy M, Malan V, Rio M, Doray B, Sanlaville D, Siffroi JP, Héron D, Heide S2022-03-018p inverted duplication-deletion, AnCC, anomalies of the corpus callosum, candidate genes, intellectual disability (ID), invdupdel(8p)Clinical genetics
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.Küry S, Ebstein F, Mollé A, Besnard T, Lee MK, Vignard V, Hery T, Nizon M, Mancini GMS, Giltay JC, Cogné B, McWalter K, Deb W, Mor-Shaked H, Li H, Schnur RE, Wentzensen IM, Denommé-Pichon AS, Fourgeux C, Verheijen FW, Faurie E, Schot R, Stevens CA, Smits DJ, Barr E, Sheffer R, Bernstein JA, Stimach CL, Kovitch E, Shashi V, Schoch K, Smith W, van Jaarsveld RH, Hurst ACE, Smith K, Baugh EH, Bohm SG, Vyhnálková E, Ryba L, Delnatte C, Neira J, Bonneau D, Toutain A, Rosenfeld JA, Audebert-Bellanger S, Gilbert-Dussardier B, Odent S, Laumonnier F, Berger SI, Smith ACM, Bourdeaut F, Stern MH, Redon R, Krüger E, Margueron R, Bézieau S, Poschmann J, Isidor B2022-02-03BAP1, BRCA1, UPS, cancer, chromatin remodeling, deubiquitination, histone 2A, intellectual disability, neurodevelopment, tumor, ubiquitin, ubiquitin-proteasome systemAmerican journal of human genetics
Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases.Mary L, Lavillaureix A, Perrot A, Loget P, Launay E, Leborgne AS, Demurger F, Fradin M, Le Bouar G, Quélin C, Dubourg C, Pasquier L, Odent S, Belaud-Rotureau MA, Jaillard S2022-02-0122q11, Foetal, Genotype-phenotype, Prenatal, aCGHEuropean journal of medical genetics
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denommé-Pichon AS, Emrick L, Faivre L, Fasano MB, Fiévet A, Finkel RS, García-Miñaúr S, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Marcos-Alcalde I, Mintz CS, Mullegama SV, Møller RS, Odent S, Oppermann H, Ostergaard E, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Paulson AM, Platzer K, Posey JE, Potocki L, Revah-Politi A, Rio M, Ritter AL, Robinson S, Rosenfeld JA, Santos-Simarro F, Sousa SB, Wéber M, Xie Y, Chung WK, Brown NJ, Tümer Z2022-02-01QRICH1, hypotonia, intellectual disability, short stature, variable expressivity, variantHuman mutation
Mono-allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions.Terkelsen T, Brasch-Andersen C, Illum N, Busa T, Missirian C, Chandler K, Holden ST, Jensen UB, Fagerberg CR2022-02-01YTHDF3 protein, chromosome deletion, developmental delay, heterozygote, human, intellectual disabilityClinical genetics
OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants.Colin E, Duffourd Y, Tisserant E, Relator R, Bruel AL, Tran Mau-Them F, Denommé-Pichon AS, Safraou H, Delanne J, Jean-Marçais N, Keren B, Isidor B, Vincent M, Mignot C, Heron D, Afenjar A, Heide S, Faudet A, Charles P, Odent S, Herenger Y, Sorlin A, Moutton S, Kerkhof J, McConkey H, Chevarin M, Poë C, Couturier V, Bourgeois V, Callier P, Boland A, Olaso R, Philippe C, Sadikovic B, Thauvin-Robinet C, Faivre L, Deleuze JF, Vitobello A2022-01-01DNA methylation analysis, genome sequencing, transcriptome sequencing, translational research, undiagnosed neurodevelopmental diseasesFrontiers in cell and developmental biology
Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations.Santurtún M, Mediavilla-Martinez E, Vega AI, Gallego N, Heath KE, Tenorio JA, Lapunzina P, Riancho-Zarrabeitia L, Riancho JA2022-01-01alkaline phosphatase, disability, hypophosphatasia, pain, patient-reported outcomes, quality of lifeFrontiers in endocrinology
The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol.Lejeune C, Robert-Viard C, Meunier-Beillard N, Borel MA, Gourvès L, Staraci S, Soilly AL, Guillemin F, Seror V, Achit H, Bouctot M, Asensio ML, Briffaut AS, Delmas C, Bruel AL, Benoit A, Simon A, Gerard B, Hadj Abdallah H, Lyonnet S, Faivre L, Thauvin-Robinet C, Odent S, Heron D, Sanlaville D, Frebourg T, Muller J, Duffourd Y, Boland A, Deleuze JF, Espérou H, Binquet C, Dollfus H2022-01-01cost-effectiveness, genome sequencing, intellectual disability, micro-costing, qualitative studyFrontiers in genetics
Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.Bar C, Breuillard D, Kuchenbuch M, Jennesson M, Le Guyader G, Isnard H, Rolland A, Doummar D, Fluss J, Afenjar A, Berquin P, De Saint Martin A, Dupont S, Goldenberg A, Lederer D, Lesca G, Maurey H, Meyer P, Mignot C, Nica A, Odent S, Poisson A, Scalais E, Sekhara T, Vrielynck P, Barcia G, Nabbout R2022-01-01Adaptive behavior, Autism spectrum disorder, Developmental and epileptic encephalopathy, KCNB1, Parental questionnaires, Psychometric evaluationEpilepsy & behavior : E&B
Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.Billon C, Adham S, Hernandez Poblete N, Legrand A, Frank M, Chiche L, Zuily S, Benistan K, Savale L, Zaafrane-Khachnaoui K, Brehin AC, Bal L, Busa T, Fradin M, Quelin C, Chesneau B, Wahl D, Fergelot P, Goizet C, Mirault T, Jeunemaitre X, Albuisson J2021-12-04Aortic aneurysm and dissection, Cardiovascular anomalies, Connective tissue disorder, Ehlers–Danlos, FLNAOrphanet journal of rare diseases
Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype.Santos-Simarro F, Pacio M, Cueto-González AM, Mansilla E, Valenzuela-Palafoll MI, López-Grondona F, Lledín MD, Schuffelmann C, Del Pozo Á, Solis M, Vallcorba P, Lapunzina P, Menéndez Suso JJ, Siccha SM, Montejo JM, Mena R, Jiménez-Rodríguez C, García-Miñaúr S, Palomares-Bralo M2021-11-01CEP57, Cancer predisposition, Cardiovascular malformations, Growth retardation, MVA2European journal of medical genetics
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, Díaz-González F, Modamio-Høybjør S, de la Torre C, Nevado J, Ruiz-Ocaña P, Bezanilla-López C, Prieto P, Bahíllo-Curieses P, Carcavilla A, Mulero-Collantes I, Barreda-Bonis AC, Cruz-Rojo J, Ramírez-Fernández J, Bermúdez de la Vega JA, Travessa AM, González de Buitrago Amigo J, Del Pozo A, Vallespín E, Solís M, Goetz C, Campos-Barros Á, Santos-Simarro F, González-Casado I, Ros-Pérez P, Parrón-Pajares M, Heath KE2021-10-11European journal of endocrinology
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.Biancalana V, Rendu J, Chaussenot A, Mecili H, Bieth E, Fradin M, Mercier S, Michaud M, Nougues MC, Pasquier L, Sacconi S, Romero NB, Marcorelles P, Authier FJ, Gelot Bernabe A, Uro-Coste E, Cances C, Isidor B, Magot A, Minot-Myhie MC, Péréon Y, Perrier-Boeswillwald J, Bretaudeau G, Dondaine N, Bouzenard A, Pizzimenti M, Eymard B, Ferreiro A, Laporte J, Fauré J, Böhm J2021-09-17Calcium, Congenital myopathy, Excitation–contraction coupling, Muscle weakness, Neuromuscular disorder, TriadActa neuropathologica communications
Antenatal finding of 16q24.1 duplication including FOXF1, revealing an autosomal dominant familial pathology with congenital short bowel, malrotation and renal abnormalities.Lavillaureix A, Foulon G, Launay E, Belaud-Rotureau MA, Thibault R, Lambe C, Aussel D, Pasquier L, Odent S, Arnaud A, Habonimana E, Dabadie A, Jaillard S2021-09-01Clinics and research in hepatology and gastroenterology
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.Raviglione F, Douzgou S, Scala M, Mingarelli A, D'Arrigo S, Freri E, Darra F, Giglio S, Bonaglia MC, Pantaleoni C, Mastrangelo M, Epifanio R, Elia M, Saletti V, Morlino S, Vari MS, De Liso P, Pavaine J, Spaccini L, Cattaneo E, Gardella E, Møller RS, Marchese F, Colonna C, Gandioli C, Gobbi G, Ram D, Palumbo O, Carella M, Germano M, Tonduti D, De Angelis D, Caputo D, Bergonzini P, Novara F, Zuffardi O, Verrotti A, Orsini A, Bonuccelli A, De Muto MC, Trivisano M, Vigevano F, Granata T, Bernardina BD, Tranchina A, Striano P2021-05-01EEG, Electro-clinical phenotype, Epilepsy, MEF2C, ADGRV1, Seizures, TherapySeizure
Prenatal ultrasound findings in Koolen-de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome.García-Santiago FA, Martínez-Payo C, Mansilla E, Santos-Simarro F, Ruiz de Azua Ballesteros M, Mori MÁ, Antolín Alvarado E, Nieto Y, Vallcorba I, Tenorio J, Nevado J, Lapunzina P2021-05-0117q21.31 microdeletion, Koolen-de Vries syndrome, genomic imbalance, prenatal diagnosis, prenatal ultrasound, ventriculomegalyMolecular genetics & genomic medicine
Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype.Cospain A, Schaefer E, Faoucher M, Dubourg C, Carré W, Bizaoui V, Assoumani J, Van Maldergem L, Piton A, Gérard B, Tran Mau-Them F, Bruel AL, Faivre L, Demurger F, Pasquier L, Odent S, Fradin M, Lavillaureix A2021-05-01Skraban-Deardorff syndrome, WDR26, hypotonia, intellectual disability, language development disorders, phenotype, speech therapyClinical genetics
Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature.Siccha SM, Cueto AM, Parrón-Pajares M, González-Morán G, Pacio-Miguez M, Del Pozo Á, Solís M, Rodriguez-Jimenez C, Caino S, Fano V, Heath KE, García-Miñaúr S, Palomares-Bralo M, Santos-Simarro F2021-03-01LIFR, Stuve-Wiedemann syndrome, dysautonomia, skeletal abnormalitiesAmerican journal of medical genetics. Part A
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, Nellaker C, Amudhavalli SM, Banka S, Bena FS, Ben-Zeev B, Bonagura VR, Bruel AL, Brunet T, Brunner HG, Chew HB, Chrast J, Cimbalistienė L, Coon H, Délot EC, Démurger F, Denommé-Pichon AS, Depienne C, Donnai D, Dyment DA, Elpeleg O, Faivre L, Gilissen C, Granger L, Haber B, Hachiya Y, Abedi YH, Hanebeck J, Hehir-Kwa JY, Horist B, Itai T, Jackson A, Jewell R, Jones KL, Joss S, Kashii H, Kato M, Kattentidt-Mouravieva AA, Kok F, Kotzaeridou U, Krishnamurthy V, Kučinskas V, Kuechler A, Lavillaureix A, Liu P, Manwaring L, Matsumoto N, Mazel B, McWalter K, Meiner V, Mikati MA, Miyatake S, Mizuguchi T, Moey LH, Mohammed S, Mor-Shaked H, Mountford H, Newbury-Ecob R, Odent S, Orec L, Osmond M, Palculict TB, Parker M, Petersen AK, Pfundt R, Preikšaitienė E, Radtke K, Ranza E, Rosenfeld JA, Santiago-Sim T, Schwager C, Sinnema M, Snijders Blok L, Spillmann RC, Stegmann APA, Thiffault I, Tran L, Vaknin-Dembinsky A, Vedovato-Dos-Santos JH, Schrier Vergano SA, Vilain E, Vitobello A, Wagner M, Waheeb A, Willing M, Zuccarelli B, Kini U, Newbury DF, Kleefstra T, Reymond A, Fisher SE, Vissers LELM2021-02-04HPO-based analysis, SATB1, cell-based functional assays, de novo variants, intellectual disability, neurodevelopmental disorders, seizures, teeth abnormalitiesAmerican journal of human genetics
Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study.Binquet C, Lejeune C, Faivre L, Bouctot M, Asensio ML, Simon A, Deleuze JF, Boland A, Guillemin F, Seror V, Delmas C, Espérou H, Duffourd Y, Lyonnet S, Odent S, Heron D, Sanlaville D, Frebourg T, Gerard B, Dollfus H2021-01-01cost-effectiveness, diagnostic odyssey, genome sequencing, intellectual disability, minimal reference strategyFrontiers in genetics
Challenges in the Surgical Treatment of Atrioventricular Septal Defect in Children With and Without Down Syndrome in Romania-A Developing Country.Olariu IC, Popoiu A, Ardelean AM, Isac R, Steflea RM, Olariu T, Chirita-Emandi A, Stroescu R, Gafencu M, Doros G2021-01-01Down syndrome, atrioventricular septal defect, congenital heart disease, pulmonary hypertension, risk factorsFrontiers in pediatrics
Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing.Cospain A, Dubourg C, Gastineau S, Pichard S, Gandemer V, Bonneau J, de Tayrac M, Moreau C, Odent S, Pasquier L, Damaj L, Lavillaureix A2020-09-01ACMG, American College of Medical Genetics and Genomics, CIPO, Chronic intestinal pseudoobstruction, Chronic intestinal pseudoobstruction, ENT, Ear, Nose and Throat, ERT, enzyme replacement therapy, Exome sequencing, GAGs, glycosaminoglycans, HSTC, hematopoietic stem cell transplantation, Hurler-Scheie disease, IFs, Incidental findings, Incidental finding, MPS-I, mucopolysaccharidosis type I, MYH11, Mucopolysaccharidosis type I, SFs, Secondary findingsMolecular genetics and metabolism reports
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, Bedoukian E, Kukolich MK, Innes AM, Ediae GU, Sawyer SL, Nair KM, Soumya PC, Subbaraman KR, Probst FJ, Bassetti JA, Sutton RV, Gibbs RA, Brown C, Boone PM, Holm IA, Tartaglia M, Ferrero GB, Niceta M, Dentici ML, Radio FC, Keren B, Wells CF, Coubes C, Laquerrière A, Aziza J, Dubucs C, Nampoothiri S, Mowat D, Patel MS, Bracho A, Cammarata-Scalisi F, Gezdirici A, Fernandez-Jaen A, Hauser N, Zarate YA, Bosanko KA, Dieterich K, Carey JC, Chong JX, Nickerson DA, Bamshad MJ, Lee BH, Yang XJ, Lupski JR, Campeau PM2020-08-01KAT6B, KAT6B disorders, SBBYSS, Say–Barber–Biesecker–Young–Simpson syndrome, genitopatellar syndromeGenetics in medicine : official journal of the American College of Medical Genetics
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.Nasser H, Vera L, Elmaleh-Bergès M, Steindl K, Letard P, Teissier N, Ernault A, Guimiot F, Afenjar A, Moutard ML, Héron D, Alembik Y, Momtchilova M, Milani P, Kubis N, Pouvreau N, Zollino M, Guilmin Crepon S, Kaguelidou F, Gressens P, Verloes A, Rauch A, El Ghouzzi V, Drunat S, Passemard S2020-06-01CDK5RAP2, MCPH, intellectual disability, primary microcephaly, retinal alteration, sensorineural hearing lossJournal of medical genetics
Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor.Tenorio J, Nevado J, González-Meneses A, Arias P, Dapía I, Venegas-Vega CA, Calvente M, Hernández A, Landera L, Ramos S, Cigudosa JC, Pérez-Jurado LA, Lapunzina P2020-03-0119p13.3, PIAS4, macrocephaly, microdeletion, microduplication, overgrowth, ubiquitin E3 ligaseClinical genetics
Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient.Cueto-González AM, Fernández-Cancio M, Fernández-Alvarez P, García-Arumí E, Tizzano EF2020-01-01Genetics research, Neurological disordersHuman genome variation
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Last update: July 6th, 2024 on 01:30