ILIAD: the ERN-ITHACA federated registry of rare diseases with intellectual disability and anomalies of development

被引：0

作者：

Vyshka, Klea ^{[1
,2
]}

Swertz, Morris ^{[3
]}

De Andrade, Fernanda ^{[3
]}

Van Der Velde, Joeri ^{[3
]}

Johansson, Lennart ^{[3
]}

Prins, Dieuwke ^{[3
]}

Dan, Dorica ^{[3
,4
]}

Houge, Sofia Douzgou ^{[5
]}

Dufke, Andreas ^{[6
]}

van Eeghen, Agnies ^{[7
]}

Faivre, Laurence ^{[8
,9
]}

Franchin, Tiziana ^{[10
]}

Green, Andrew ^{[11
]}

Hennekam, Raoul ^{[12
]}

Hugon, Anne ^{[1
]}

Huisman, Sylvia ^{[12
]}

Le Dref, Marianne ^{[1
]}

Kleefstra, Tjitske ^{[13
]}

Koolen, David ^{[13
]}

Manunta, Andrea ^{[14
]}

Moilanen, Jukka ^{[15
]}

Mosiello, Giovanni ^{[16
]}

Shabani, Mahsa ^{[17
]}

Sundqvist, Ammi ^{[18
]}

Szeto, Nicholas ^{[1
]}

Tartaglia, Marco ^{[19
]}

Tumer, Zeynep ^{[20
]}

Tumiene, Birute ^{[21
]}

Vissers, Lisenka ^{[13
]}

Yntema, Helger ^{[22
]}

Wieczorek, Dagmar ^{[23
]}

Zampino, Giuseppe ^{[24
]}

Renieri, Alessandra ^{[25
]}

Verloes, Alain ^{[1
,26
]}

机构：

[1] Univ Paris, Assistance Publ Hopitaux Paris, Dept Genet, Paris, France

[2] Univ Lyon, Ctr Recherches Crit Droit, CERCRID, UMR 5137, Lyon, France

[3] Univ Med Ctr Groningen, Dept Genet, Genom Coordinat Ctr, Groningen, Netherlands

[4] Romanian Natl Alliance Rare Dis RONARD, Zalau, Romania

[5] Haukeland Univ, Avdeling Med Genet, Bergen, Norway

[6] Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany

[7] Univ Amsterdam, Emma Childrens Hosp, Amsterdam, Netherlands

[8] Univ Hosp Dijon, FHU TRANSLAD & GIMI Inst, Dept Genet, Dijon, France

[9] Univ Hosp Dijon, FHU TRANSLAD & GIMI Inst, Centres Reference Dev Disorders & Intellectualdis, Dijon, France

[10] IRCCS, Osped Pediatr Bambino Gesu, Rome, Italy

[11] Temple St Childrens Univ Hosp, Dept Clin Genet, Dublin, Ireland

[12] Amsterdam UMC, AcademicMed Ctr, Dept Pediat, Amsterdam, Netherlands

[13] Radboud Univ Nijmegen Med Ctr, Dept Human Genet, Nijmegen, Netherlands

[14] Univ Rennes, Dept Urol, Rennes, France

[15] Oulu Univ Hosp, Med Res Ctr Oulu, Dept Clin Genet, Oulu, Finland

[16] Bambino Gesu Pediat Hosp, Dept Surg Urol & Neurourol, Rome, Italy

[17] Univ Ghent, Fac Law & Criminol, Ghent, Belgium

[18] RBU Int SBH, Solna, Sweden

[19] IRCCS, Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, Rome, Italy

[20] Copenhagen Univ Hosp, Dept Clin Genet, Rigshosp, Copenhagen, Denmark

[21] Vilnius Univ Hosp Santaros Klinikos, Santariskiu, Vilnius, Lithuania

[22] Radboudumc, Dept Human Genet, Nijmegen, Netherlands

[23] Heinrich Heine Univ, Inst Human Genet & Anthropol, Dusseldorf, Germany

[24] Univ Cattolico Sacro Cuore, Inst Pediat,Dept Woman & Child Hlth, Ctr Rare Dis & Birth Defects, Fdn Policlin Univ Agostino Gemelli IRCCS, Rome, Italy

[25] Univ Siena, Med Genet, Siena, Italy

[26] Hop Robert Debre, INSERM UMR 1141 NeuroDiderot, Paris, France

[27] ERN ITHACA, Paris, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P18.030.B

引用

页码：606 / 607

页数：2

共 23 条

[1] ILIAD project: the ERN-ITHACA online registry of rare diseases with intellectual disability and anomalies of development
Swertz, Morris
Vyshka, Klea
de Andrade, Fernanda
Van der Velde, Joeri
Johansson, Lennart
Prins, Dieuwke
Clayton-Smith, Jill
Dan, Dorica
Houge, Sofia Douzgou
Faivre, Laurence
Franchin, Tiziana
Green, Andrew
Hennekam, Raoul
Hugon, Anne
Huisman, Sylvia
Ijntema, Helger
Kleefstra, Tjitske
Koolen, David
Manunta, Andrea
Moilanen, Jukka
Mosiello, Giovanni
Selatnia, Sarra
Shabani, Mahsa
Sundqvist, Ammi
Tartaglia, Marco
Tumer, Zeynep
Tumiene, Birute
Vissers, Lisenka
Wieczorek, Dagmar
Zampino, Giuseppe
Renieri, Alessandra
Verloes, Alain
[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 487 - 487
[2] OrphaID: a new platform for rare intellectual disabilities in Orphanet in partnership with ERN-ITHACA
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[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 170 - 171
[3] ERN-ITHACA: European Reference Network on congenital malformations and rare neurodevelopmental disabilities
Le Dref, Marianne
Avela, Kistiina
Bartuli, Andrea
Bedeschi, Maria Francesca
Dan, Dorica
Demirdas, S.
Houge, Sofia Douzgou
Dufke, Andreas
Faivre, Laurence
Genevieve, David
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Hadzsiev, Kinga
Hennekam, Raoul
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Huning, Irina
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Kaiser, Frank J.
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[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 326 - 327
[4] GUIDELINES4RARE: an ERN ITHACA project to improve care for individuals with rare genetic disorders and intellectual disability
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van Eeghen, Agnies
[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 454 - 454
[5] Lessons from the Rare Diseases Registry and Analytics Platform framework for development of a national rare diseases registry for India
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[J]. Journal of Biosciences, 49
[6] Lessons from the Rare Diseases Registry and Analytics Platform framework for development of a national rare diseases registry for India
Chaube, Pragya
Lankapalli, Avani
Choudhury, Mohua Chakraborty
[J]. JOURNAL OF BIOSCIENCES, 2024, 49 (01)
[7] The collaboration between the European Society of Human Genetics-Young Committee (ESHG-Y), UNIQUE and ERN-ITHACA: increasing the knowledge on rare genetic disorders for non-native English speakers
Cerqueira, Juliana Miranda
Gouveia Freitas da Silva, Ana Raquel
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[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 751 - 752
[8] Proposal for standardized prenatal assessment of fetal open dysraphisms by the European reference network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies (ITHACA) and eUROGEN
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[J]. PRENATAL DIAGNOSIS, 2024, 44 (09) : 1073 - 1087
[9] Defining and characterising a toolkit for the development of a successful European registry for rare liver diseases: a model for building a rare disease registry
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Kelly, Claire
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Ala, Aftab
[J]. CLINICAL MEDICINE, 2022, 22 (04) : 340 - 347
[10] IS ID A DIAGNOSTIC CATEGORY? RETHINKING INTELLECTUAL DISABILITY IN THE LIGHT OF GENETICS, RARE DISEASES, AND HETEROGENEOUS COMORBIDITIES
Seidel, M.
[J]. JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, 2015, 59 : 13 - 13

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