• 8966 Citations
  • 49 h-Index
1989 …2019
If you made any changes in Pure these will be visible here soon.

Research Output 1989 2019

  • 8966 Citations
  • 49 h-Index
  • 346 Article
  • 10 Chapter
  • 5 Review article
  • 1 Letter
Filter
Article
2019

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog

Digilio, M. C., Pugnaloni, F., De Luca, A., Calcagni, G., Baban, A., Dentici, M. L., Versacci, P., Dallapiccola, B., Tartaglia, M. & Marino, B., 2019, In : Clinical Genetics. 95, 2, p. 268-276 9 p.

Research output: Contribution to journalArticle

Brain Diseases
Nervous System Malformations
Exome
Mutation
Intellectual Disability

H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome

Kragesteen, B. K., Brancati, F., Digilio, M. C., Mundlos, S. & Spielmann, M., Apr 2019, In : Journal of Medical Genetics. 56, 4, p. 246-251 6 p.

Research output: Contribution to journalArticle

Clustered Regularly Interspaced Short Palindromic Repeats
Forelimb
Genomic Structural Variation
Extremities
Housekeeping

Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice

Mastromoro, G., Calcagni, G., Versacci, P., Putotto, C., Chinali, M., Lambiase, C., Unolt, M., Pelliccione, E., Anaclerio, S., Caprio, C., Cioffi, S., Bilio, M., Baban, A., Drago, F., Digilio, M. C., Marino, B. & Baldini, A., Apr 1 2019, In : PLoS One. 14, 4, p. e0211170

Research output: Contribution to journalArticle

DiGeorge Syndrome
pulmonary artery
Pulmonary Artery
Defects
mice

Novel clinical features associated with Clouston syndrome

Cammarata-Scalisi, F., Rinelli, M., Pisaneschi, E., Diociaiuti, A., Willoughby, C. E., Avendaño, A., Digilio, M. C., Novelli, A. & Callea, M., Jun 5 2019, In : International Journal of Dermatology.

Research output: Contribution to journalArticle

LEOPARD Syndrome
Hypertrophic Cardiomyopathy
Noonan Syndrome
Pediatrics
Mutation

Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease

Pinna, V., Daniele, P., Calcagni, G., Mariniello, L., Criscione, R., Giardina, C., Lepri, F. R., Hozhabri, H., Alberico, A., Cavone, S., Morella, A. T., Mandile, R., Annunziata, F., Di Giosaffatte, N., D'Asdia, M. C., Versacci, P., Capolino, R., Strisciuglio, P., Giustini, S., Melis, D. & 4 others, Digilio, M. C., Tartaglia, M., Marino, B. & De Luca, A., Sep 4 2019, In : Genes. 10, 9

Research output: Contribution to journalArticle

Open Access
2018

Analysis of DICER1 in familial and sporadic cases of transposition of the great arteries

Sabbaghian, N., Digilio, M. C., Blue, G. M., Revil, T., Winlaw, D. S. & Foulkes, W. D., May 2018, In : Congenital Heart Disease. 13, 3, p. 401-406 6 p.

Research output: Contribution to journalArticle

Transposition of Great Vessels
Exons
DNA
3' Untranslated Regions
Cardiac Myocytes
2 Citations (Scopus)

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome

Niceta, M., Margiotti, K., Digilio, M. C., Guida, V., Bruselles, A., Pizzi, S., Ferraris, A., Memo, L., Laforgia, N., Dentici, M. L., Consoli, F., Torrente, I., Ruiz-Perez, V. L., Dallapiccola, B., Marino, B., De Luca, A. & Tartaglia, M., Jan 1 2018, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

Ellis-Van Creveld Syndrome
Mutation
Genes
Exome
Ectodermal Dysplasia
Burkitt Lymphoma
Mutation
Neoplasms
Modifier Genes
Genes

Cardiovascular disease in Down syndrome

Versacci, P., Di Carlo, D., Digilio, M. C. & Marino, B., Oct 2018, In : Current Opinion in Pediatrics. 30, 5, p. 616-622 7 p.

Research output: Contribution to journalArticle

Down Syndrome
Cardiovascular Diseases
Cardiovascular System
Thoracic Surgery
Anniversaries and Special Events

Cardiovascular disease in Noonan syndrome

Pierpont, M. E. & Digilio, M. C., Oct 2018, In : Current Opinion in Pediatrics. 30, 5, p. 601-608 8 p.

Research output: Contribution to journalArticle

Noonan Syndrome
Heart Diseases
Cardiovascular Diseases
Hypertrophic Cardiomyopathy
Mutation
3 Citations (Scopus)

Clinical and neurobehavioral features of three novel kabuki syndrome patients with mosaic KMT2D mutations and a review of literature

Lepri, F. R., Cocciadiferro, D., Augello, B., Alfieri, P., Pes, V., Vancini, A., Caciolo, C., Squeo, G. M., Malerba, N., Adipietro, I., Novelli, A., Sotgiu, S., Gherardi, R., Digilio, M. C., Dallapiccola, B. & Merla, G., Jan 1 2018, In : International Journal of Molecular Sciences. 19, 1, 82.

Research output: Contribution to journalArticle

Lymphocytes
mutations
Nucleotides
Chromatin
Blood
Haploinsufficiency
De Lange Syndrome
Phenotype
Genes
Genetic Association Studies

Correction to: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation (Genetics in Medicine, (2018), 10.1038/s41436-018-0269-0)

Koczkowska, M., Callens, T., Gomes, A., Sharp, A., Chen, Y., Hicks, A. D., Aylsworth, A. S., Azizi, A. A., Basel, D. G., Bellus, G., Bird, L. M., Blazo, M. A., Burke, L. W., Cannon, A., Collins, F., DeFilippo, C., Denayer, E., Digilio, M. C., Dills, S. K., Dosa, L. & 30 others, Greenwood, R. S., Griffis, C., Gupta, P., Hachen, R. K., Hernández-Chico, C., Janssens, S., Jones, K. J., Jordan, J. T., Kannu, P., Korf, B. R., Lewis, A. M., Listernick, R. H., Lonardo, F., Mahoney, M. J., Ojeda, M. M., McDonald, M. T., McDougall, C., Mendelsohn, N., Miller, D. T., Mori, M., Oostenbrink, R., Perreault, S., Pierpont, M. E., Piscopo, C., Pond, D. A., Randolph, L. M., Rauen, K. A., Rednam, S., Saletti, V. & De Luca, A., Jan 1 2018, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Gene Deletion
Medicine
Phenotype

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

Koczkowska, M., Callens, T., Gomes, A., Sharp, A., Chen, Y., Hicks, A. D., Aylsworth, A. S., Azizi, A. A., Basel, D. G., Bellus, G., Bird, L. M., Blazo, M. A., Burke, L. W., Cannon, A., Collins, F., DeFilippo, C., Denayer, E., Digilio, M. C., Dills, S. K., Dosa, L. & 50 others, Greenwood, R. S., Griffis, C., Gupta, P., Hachen, R. K., Hernández-Chico, C., Janssens, S., Jones, K. J., Jordan, J. T., Kannu, P., Korf, B. R., Lewis, A. M., Listernick, R. H., Lonardo, F., Mahoney, M. J., Ojeda, M. M., McDonald, M. T., McDougall, C., Mendelsohn, N., Miller, D. T., Mori, M., Oostenbrink, R., Perreault, S., Pierpont, M. E., Piscopo, C., Pond, D. A., Randolph, L. M., Rauen, K. A., Rednam, S., Rutledge, S. L., Saletti, V., Schaefer, G. B., Schorry, E. K., Scott, D. A., Shugar, A., Siqveland, E., Starr, L. J., Syed, A., Trapane, P. L., Ullrich, N. J., Wakefield, E. G., Walsh, L. E., Wangler, M. F., Zackai, E., Claes, K. B. M., Wimmer, K., van Minkelen, R., De Luca, A., Martin, Y., Legius, E. & Messiaen, L. M., Sep 7 2018, In : Genetics in Medicine. 10 p.

Research output: Contribution to journalArticle

Neurofibromatosis 1 Genes
Neurofibromatosis 1
Genetic Association Studies
Phenotype
Neurofibroma
2 Citations (Scopus)

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Koczkowska, M., Callens, T., Gomes, A., Sharp, A., Chen, Y., Hicks, A. D., Aylsworth, A. S., Azizi, A. A., Basel, D. G., Bellus, G., Bird, L. M., Blazo, M. A., Burke, L. W., Cannon, A., Collins, F., DeFilippo, C., Denayer, E., Digilio, M. C., Dills, S. K., Dosa, L. & 50 others, Greenwood, R. S., Griffis, C., Gupta, P., Hachen, R. K., Hernández-Chico, C., Janssens, S., Jones, K. J., Jordan, J. T., Kannu, P., Korf, B. R., Lewis, A. M., Listernick, R. H., Lonardo, F., Mahoney, M. J., Ojeda, M. M., McDonald, M. T., McDougall, C., Mendelsohn, N., Miller, D. T., Mori, M., Oostenbrink, R., Perreault, S., Pierpont, M. E., Piscopo, C., Pond, D. A., Randolph, L. M., Rauen, K. A., Rednam, S., Rutledge, S. L., Saletti, V., Schaefer, G. B., Schorry, E. K., Scott, D. A., Shugar, A., Siqveland, E., Starr, L. J., Syed, A., Trapane, P. L., Ullrich, N. J., Wakefield, E. G., Walsh, L. E., Wangler, M. F., Zackai, E., Claes, K. B. M., Wimmer, K., van Minkelen, R., De Luca, A., Martin, Y., Legius, E. & Messiaen, L. M., Jan 1 2018, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Neurofibromatosis 1 Genes
Neurofibromatosis 1
Phenotype
Neurofibroma
Skin

First Report of Low-Rate Mosaicism for 20q11.21q12 Deletion and Delineation of the Associated Disorder

Loddo, S., Alesi, V., Genovese, S., Orlando, V., Calacci, C., Restaldi, F., Pompili, D., Liambo, M. T., Digilio, M. C., Dallapiccola, B., Dentici, M. L. & Novelli, A., Oct 30 2018, In : Cytogenetic and Genome Research.

Research output: Contribution to journalArticle

Mosaicism
Psychomotor Disorders
Growth Disorders
Chromosomes, Human, Pair 20
Genetic Databases

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

University of Washington Center for Mendelian Genomics, Feb 1 2018, In : American Journal of Human Genetics. 102, 2, p. 309-320 12 p.

Research output: Contribution to journalArticle

Phenotype
Mutation
Noonan Syndrome
Exome
Monomeric GTP-Binding Proteins

Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement

Pascolini, G., Agolini, E., Majore, S., Novelli, A., Grammatico, P. & Digilio, M. C., May 2018, In : European Journal of Paediatric Neurology. 22, 3, p. 552-557 6 p.

Research output: Contribution to journalArticle

Disabled Children
Intellectual Disability
Genetic Databases
Blepharophimosis
Mutation

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

Ferese, R., Bonetti, M., Consoli, F., Guida, V., Sarkozy, A., Lepri, F. R., Versacci, P., Gambardella, S., Calcagni, G., Margiotti, K., Piceci Sparascio, F., Hozhabri, H., Mazza, T., Digilio, M. C., Dallapiccola, B., Tartaglia, M., Marino, B., Hertog, J. D. & De Luca, A., Oct 2018, In : Human Mutation. 39, 10, p. 1428-1441 14 p.

Research output: Contribution to journalArticle

Missense Mutation
Calcineurin
Mutation
Atrioventricular Septal Defect
Zebrafish
2 Citations (Scopus)

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

Ferese, R., Bonetti, M., Consoli, F., Guida, V., Sarkozy, A., Lepri, F. R., Versacci, P., Gambardella, S., Calcagni, G., Margiotti, K., Piceci Sparascio, F., Hozhabri, H., Mazza, T., Digilio, M. C., Dallapiccola, B., Tartaglia, M., Marino, B., Hertog, J. D. & De Luca, A., Oct 1 2018, In : Human Mutation. 39, 10, p. 1428-1441 14 p.

Research output: Contribution to journalArticle

Missense Mutation
Calcineurin
Mutation
Atrioventricular Septal Defect
Zebrafish

Long-term survival and phenotypic spectrum in heterotaxy syndrome: A 25-year follow-up experience

Baban, A., Cantarutti, N., Adorisio, R., Lombardi, R., Calcagni, G., Piano Mortari, E., Dallapiccola, B., Marino, B., Iorio, F. S., Carsetti, R., Digilio, M. C., Giannico, S., Drago, F. & Carotti, A., Oct 1 2018, In : International Journal of Cardiology. 268, p. 100-105 6 p.

Research output: Contribution to journalArticle

Heterotaxy Syndrome
Survival
Spleen
Transplants
Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

Bauer, C. K., Calligari, P., Radio, F. C., Caputo, V., Dentici, M. L., Falah, N., High, F., Pantaleoni, F., Barresi, S., Ciolfi, A., Pizzi, S., Bruselles, A., Person, R., Richards, S., Cho, M. T., Claps Sepulveda, D. J., Pro, S., Battini, R., Zampino, G., Digilio, M. C. & 4 others, Bocchinfuso, G., Dallapiccola, B., Stella, L. & Tartaglia, M., Oct 4 2018, In : American Journal of Human Genetics. 103, 4, p. 621-630 10 p.

Research output: Contribution to journalArticle

Arachidonic Acid
Mutation
Gingival Overgrowth
Missense Mutation
Molecular Dynamics Simulation
Mutation
Motor Skills
Linguistics
Kabuki syndrome
Patient Selection

Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome

Unolt, M., Barry, J., Digilio, M. C., Marino, B., Bassett, A., Oechslin, E., Low, D. W., Belasco, J. B., Kallish, S., Sullivan, K., Zackai, E. H. & McDonald-McGinn, D. M., Jul 2018, In : European Journal of Medical Genetics. 61, 7, p. 411-415 5 p.

Research output: Contribution to journalArticle

DiGeorge Syndrome
Lymphedema
Lymphangiogenesis
Extracellular Fluid
Chromosome Aberrations

Small 4p16.3 deletions: Three additional patients and review of the literature

Bernardini, L., Radio, F. C., Acquaviva, F., Gorgone, C., Postorivo, D., Torres, B., Alesi, V., Magliozzi, M., Lonardo, F., Monica, M. D., Nardone, A. M., Cesario, C., Mattina, T., Scarano, G., Dallapiccola, B., Digilio, M. C. & Novelli, A., Sep 23 2018, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Genes
Seizures
Wolf-Hirschhorn Syndrome
Language Development Disorders
Microcephaly

Small 4p16.3 deletions: Three additional patients and review of the literature

Bernardini, L., Radio, F. C., Acquaviva, F., Gorgone, C., Postorivo, D., Torres, B., Alesi, V., Magliozzi, M., Lonardo, F., Monica, M. D., Nardone, A. M., Cesario, C., Mattina, T., Scarano, G., Dallapiccola, B., Digilio, M. C. & Novelli, A., 2018, In : American Journal of Medical Genetics, Part A. 176, 11, p. 2501-2508 8 p.

Research output: Contribution to journalArticle

2017
10 Citations (Scopus)

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Cuvertino, S., Stuart, H. M., Chandler, K. E., Roberts, N. A., Armstrong, R., Bernardini, L., Bhaskar, S., Callewaert, B., Clayton-Smith, J., Davalillo, C. H., Deshpande, C., Devriendt, K., Digilio, M. C., Dixit, A., Edwards, M., Friedman, J. M., Gonzalez-Meneses, A., Joss, S., Kerr, B., Lampe, A. K. & 21 others, Langlois, S., Lennon, R., Loget, P., Ma, D. Y. T., McGowan, R., Des Medt, M., O'Sullivan, J., Odent, S., Parker, M. J., Pebrel-Richard, C., Petit, F., Stark, Z., Stockler-Ipsiroglu, S., Tinschert, S., Vasudevan, P., Villa, O., White, S. M., Zahir, F. R., Woolf, A. S., Banka, S. & The DDD Study, Dec 7 2017, In : American Journal of Human Genetics. 101, 6, p. 1021-1033 13 p.

Research output: Contribution to journalArticle

Actins
Intellectual Disability
Mutation
Cell Shape
Fibroblasts
10 Citations (Scopus)

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Cuvertino, S., Stuart, H. M., Chandler, K. E., Roberts, N. A., Armstrong, R., Bernardini, L., Bhaskar, S., Callewaert, B., Clayton-Smith, J., Davalillo, C. H., Deshpande, C., Devriendt, K., Digilio, M. C., Dixit, A., Edwards, M., Friedman, J. M., Gonzalez-Meneses, A., Joss, S., Kerr, B., Lampe, A. K. & 21 others, Langlois, S., Lennon, R., Loget, P., Ma, D. Y. T., McGowan, R., Des Medt, M., O'Sullivan, J., Odent, S., Parker, M. J., Pebrel-Richard, C., Petit, F., Stark, Z., Stockler-Ipsiroglu, S., Tinschert, S., Vasudevan, P., Villa, O., White, S. M., Zahir, F. R., Woolf, A. S., Banka, S. & Study, T. DDD., Dec 7 2017, In : American Journal of Human Genetics. 101, 6, p. 1021-1033 13 p.

Research output: Contribution to journalArticle

Actins
Intellectual Disability
Mutation
Cell Shape
Fibroblasts
Bilateral Hearing Loss
Conductive Hearing Loss
Mutation
Inborn Genetic Diseases
Incisor
2 Citations (Scopus)

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome

Niceta, M., Margiotti, K., Digilio, M. C., Guida, V., Bruselles, A., Pizzi, S., Ferraris, A., Memo, L., Laforgia, N., Dentici, M. L., Consoli, F., Torrente, I., Ruiz-Perez, V. L., Dallapiccola, B., Marino, B., De Luca, A. & Tartaglia, M., Aug 30 2017, In : Clinical Genetics.

Research output: Contribution to journalArticle

Ellis-Van Creveld Syndrome
Mutation
Genes
Exome
Ectodermal Dysplasia
2 Citations (Scopus)

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome

Niceta, M., Margiotti, K., Digilio, M. C., Guida, V., Bruselles, A., Pizzi, S., Ferraris, A., Memo, L., Laforgia, N., Dentici, M. L., Consoli, F., Torrente, I., Ruiz-Perez, V. L., Dallapiccola, B., Marino, B., De Luca, A. & Tartaglia, M., Aug 30 2017, In : Clinical Genetics.

Research output: Contribution to journalArticle

Ellis-Van Creveld Syndrome
Mutation
Genes
Exome
Ectodermal Dysplasia
13 Citations (Scopus)

Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results

Calcagni, G., Limongelli, G., D'Ambrosio, A., Gesualdo, F., Digilio, M. C., Baban, A., Albanese, S. B., Versacci, P., De Luca, E., Ferrero, G. B., Baldassarre, G., Agnoletti, G., Banaudi, E., Marek, J., Kaski, J. P., Tuo, G., Russo, M. G., Pacileo, G., Milanesi, O., Messina, D. & 7 others, Marasini, M., Cairello, F., Formigari, R., Brighenti, M., Dallapiccola, B., Tartaglia, M. & Marino, B., Oct 15 2017, In : International Journal of Cardiology. 245, p. 92-98 7 p.

Research output: Contribution to journalArticle

Morbidity
Mortality
Mutation
Survival
Hypertrophic Cardiomyopathy
2 Citations (Scopus)

Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature

Fischetto, R., Palumbo, O., Ortolani, F., Palumbo, P., Leone, M. P., Causio, F. A., Pesce, S., Digilio, M. C., Carella, M. & Papadia, F., Jul 1 2017, In : American Journal of Medical Genetics, Part A. 173, 7, p. 1922-1930 9 p.

Research output: Contribution to journalArticle

Osteopoikilosis
Siblings
MicroRNAs
Genes
Mothers
2 Citations (Scopus)

Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature

Fischetto, R., Palumbo, O., Ortolani, F., Palumbo, P., Leone, M. P., Causio, F. A., Pesce, S., Digilio, M. C., Carella, M. & Papadia, F., Apr 13 2017, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Osteopoikilosis
Siblings
MicroRNAs
Genes
Mothers
3 Citations (Scopus)

Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature

Lepri, F. R., Cocciadiferro, D., Augello, B., Alfieri, P., Pes, V., Vancini, A., Caciolo, C., Squeo, G. M., Malerba, N., Adipietro, I., Novelli, A., Sotgiu, S., Gherardi, R., Digilio, M. C., Dallapiccola, B. & Merla, G., Dec 28 2017, In : International Journal of Molecular Sciences. 19, 1

Research output: Contribution to journalArticle

Lymphocytes
mutations
Nucleotides
Chromatin
Blood
5 Citations (Scopus)

Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency

Dentici, M. L., Barresi, S., Niceta, M., Pantaleoni, F., Pizzi, S., Dallapiccola, B., Tartaglia, M. & Digilio, M. C., Apr 25 2017, In : Clinical Genetics. 93, 2, p. 401-407 7 p.

Research output: Contribution to journalArticle

Haploinsufficiency
Mutation
Exome
Polydactyly
Phenotype
6 Citations (Scopus)
Congenital Heart Defects
Dilatation
Hypoplastic Left Heart Syndrome
Aortic Coarctation
Atrial Heart Septal Defects
8 Citations (Scopus)

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review

Agolini, E., Dentici, M. L., Bellacchio, E., Alesi, V., Radio, F. C., Torella, A., Musacchia, F., Tartaglia, M., Dallapiccola, B., Nigro, V., Digilio, M. C. & Novelli, A., Sep 13 2017, In : Clinical Genetics.

Research output: Contribution to journalArticle

Protein-Arginine N-Methyltransferases
Brachydactyly
Intellectual Disability
Mutation
Arginine
2 Citations (Scopus)
Mutation
Intellectual Disability
Exome
Microcephaly
Spectrum Analysis
7 Citations (Scopus)

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3

on behalf of the International 22q11.2 Consortium/Brain and Behavior Consortium, Oct 1 2017, In : Circulation: Cardiovascular Genetics. 10, 5, e001690.

Research output: Contribution to journalArticle

DiGeorge Syndrome
Tetralogy of Fallot
Genome-Wide Association Study
MEF2 Transcription Factors
Heart Diseases
9 Citations (Scopus)

haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

Le Tanno, P., Breton, J., Bidart, M., Satre, V., Harbuz, R., Ray, P. F., Bosson, C., Dieterich, K., Jaillard, S., Odent, S., Poke, G., Beddow, R., Digilio, M. C., Novelli, A., Bernardini, L., Pisanti, M. A., Mackenroth, L., Hackmann, K., Vogel, I., Christensen, R. & 10 others, Fokstuen, S., Béna, F., Amblard, F., Devillard, F., Vieville, G., Apostolou, A., Jouk, P-S., Guebre-Egziabher, F., Sartelet, H. & Coutton, C., Jul 2017, In : Journal of Medical Genetics. 54, 7, p. 502-510 9 p.

Research output: Contribution to journalArticle

Haploinsufficiency
Kidney
Microarray Analysis
Cakut
Genetic Counseling
1 Citation (Scopus)

Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization

Alesi, V., Orlando, V., Genovese, S., Loddo, S., Pisaneschi, E., Pompili, D., Surace, C., Restaldi, F., Digilio, M. C., Dallapiccola, B., Dentici, M. L. & Novelli, A., Jul 1 2017, In : Cytogenetic and Genome Research. 151, 4, p. 179-185 7 p.

Research output: Contribution to journalArticle

Language Development Disorders
Microcephaly
Hypospadias
Cytogenetic Analysis
Cytogenetics
2 Citations (Scopus)

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

Reggiani, C., Coppens, S., Sekhara, T., Dimov, I., Pichon, B., Lufin, N., Addor, M. C., Belligni, E. F., Digilio, M. C., Faletra, F., Ferrero, G. B., Gerard, M., Isidor, B., Joss, S., Niel-Bütschi, F., Perrone, M. D., Petit, F., Renieri, A., Romana, S., Topa, A. & 8 others, Vermeesch, J. R., Lenaerts, T., Casimir, G., Abramowicz, M., Bontempi, G., Vilain, C., Deconinck, N. & Smits, G., Jul 19 2017, In : Genome Medicine. 9, 1, 67.

Research output: Contribution to journalArticle

Developmental Disabilities
Intellectual Disability
Exons
Gene Deletion
Histone Code
2 Citations (Scopus)

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

Reggiani, C., Coppens, S., Sekhara, T., Dimov, I., Pichon, B., Lufin, N., Addor, M. C., Belligni, E. F., Digilio, M. C., Faletra, F., Ferrero, G. B., Gerard, M., Isidor, B., Joss, S., Niel-Bütschi, F., Perrone, M. D., Petit, F., Renieri, A., Romana, S., Topa, A. & 8 others, Vermeesch, J. R., Lenaerts, T., Casimir, G., Abramowicz, M., Bontempi, G., Vilain, C., Deconinck, N. & Smits, G., Jul 19 2017, In : Genome Medicine. 9, 1

Research output: Contribution to journalArticle

Developmental Disabilities
Intellectual Disability
Exons
Gene Deletion
Histone Code
9 Citations (Scopus)

PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

Tanno, P. L., Breton, J., Bidart, M., Satre, V., Harbuz, R., Ray, P. F., Bosson, C., Dieterich, K., Jaillard, S., Odent, S., Poke, G., Beddow, R., Digilio, M. C., Novelli, A., Bernardini, L., Pisanti, M. A., Mackenroth, L., Hackmann, K., Vogel, I., Christensen, R. & 10 others, Fokstuen, S., Béna, F., Amblard, F., Devillard, F., Vieville, G., Apostolou, A., Jouk, P. S., Guebre-Egziabher, F., Sartelet, H. & Coutton, C., Jul 1 2017, In : Journal of Medical Genetics. 54, 7, p. 502-510 9 p.

Research output: Contribution to journalArticle

Haploinsufficiency
Kidney
Microarray Analysis
Genes
Cakut