M. Digilio

发表

Clinical and cardiorespiratory assessment in children with Down syndrome without congenital heart disease.

E. Pastore, B. Marino, A. Calzolari, 2000, Archives of pediatrics & adolescent medicine.

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

M. Digilio, B. Dallapiccola, A. Bruselles, 2014, European Journal of Human Genetics.

Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia

M. Digilio, A. Giannotti, A. Federico, 2003, Human mutation.

Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome

O. Gabrielli, M. Digilio, A. Giannotti, 1999, European Journal of Human Genetics.

Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.

M. Digilio, B. Grisart, B. Dallapiccola, 2012, American journal of human genetics.

Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome.

M. Digilio, B. Marino, R. D. Di Donato, 2008, Developmental disabilities research reviews.

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes

D. Seripa, M. Digilio, B. Dallapiccola, 2003, Journal of medical genetics.

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

I. Screpanti, S. Checquolo, M. Digilio, 2010, American journal of human genetics.

Behavioral Profile in RASopathies

E. Mercuri, M. Digilio, M. Tartaglia, 2014, American journal of medical genetics. Part A.

Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot

G. Usala, M. Uda, B. Marino, 2011, Clinical genetics.

Hypopigmented skin patches in 17q21.31 microdeletion syndrome: expanding the spectrum of cutaneous findings

M. Digilio, B. Dallapiccola, L. Bernardini, 2014, Clinical dysmorphology.

Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management.

M. Digilio, B. Gelb, M. Tartaglia, 2021, Heart failure clinics.

Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?

M. Digilio, A. Novelli, M. Raponi, 2022, Journal of cardiovascular development and disease.

Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies.

M. Digilio, B. Gelb, M. Tartaglia, 2018, Heart failure clinics.

Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult Height

M. Maghnie, M. Digilio, G. Ferrero, 2021, Frontiers in Endocrinology.

Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study

M. Digilio, B. Dallapiccola, M. Tartaglia, 2020, Birth Defects Research.

SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review

M. Digilio, B. Dallapiccola, A. Novelli, 2019, American journal of medical genetics. Part A.

Cardiovascular disease in Noonan syndrome

M. Digilio, M. Pierpont, 2018, Current opinion in pediatrics.

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

M. Digilio, B. Dallapiccola, M. Tartaglia, 2017, International journal of cardiology.

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.

M. Digilio, B. Dallapiccola, A. Pizzuti, 2002, American journal of human genetics.

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

M. Digilio, B. Gelb, B. Dallapiccola, 2009, Human mutation.

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

Robert W. Mills, A J Agopian, Jonathan H. Chung, 2017, Circulation. Cardiovascular genetics.

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the &ITGPR98&IT Locus on 5q14.3

A J Agopian, Jonathan H. Chung, E. Zackai, 2022 .

Microdeletion 22q11 and oesophageal atresia

M. Digilio, A. Giannotti, B. Dallapiccola, 1999, Journal of medical genetics.

Atrioventricular canal defect in patients with RASopathies

M. Digilio, B. Dallapiccola, M. Tartaglia, 2012, European Journal of Human Genetics.

Genetic dosage compensation in a family with velo‐cardio‐facial/DiGeorge/22q11.2 deletion syndrome

B. Morrow, M. Digilio, B. Dallapiccola, 2011, American journal of medical genetics. Part A.

Acro-cardio-facial syndrome

M. Digilio, B. Dallapiccola, 2010, Orphanet journal of rare diseases.

Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1.

M. Digilio, B. Dallapiccola, A. Novelli, 2019, European journal of medical genetics.

Complete Transposition of the Great Arteries: Patterns of Congenital Heart Disease in Familial Precurrence

M. Digilio, A. Giannotti, B. Dallapiccola, 2001, Circulation.

Cardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia.

M. Digilio, A. Giannotti, B. Dallapiccola, 1999, American journal of medical genetics.

Atrioventricular canal defect and associated genetic disorders: new insights into polydactyly syndromes

M. Digilio, B. Dallapiccola, B. Marino, 2011 .

Genetics of congenital heart diseases in syndromic and non-syndromic patients: new advances and clinical implications.

M. Digilio, B. Dallapiccola, B. Marino, 2007, Journal of cardiovascular medicine.

Genetic heterogeneity and phenotypic anomalies in children with atrioventricular canal defect and tetralogy of Fallot

M. Digilio, R. Capolino, B. Marino, 2006, Clinical dysmorphology.

Familial recurrence of congenital heart disease: an overview and review of the literature

M. Digilio, B. Dallapiccola, B. Marino, 2006, European Journal of Pediatrics.

CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects

M. Digilio, B. Dallapiccola, A. Pizzuti, 2005, American journal of medical genetics. Part A.

Atrioventricular canal defect without Down syndrome: a heterogeneous malformation.

M. Digilio, A. Giannotti, B. Dallapiccola, 1999, American journal of medical genetics.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Michael F. Wangler, E. Haan, E. Zackai, 2019, Human mutation.

Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother

M. Digilio, B. Dallapiccola, R. Capolino, 2012, Cardiology in the Young.

22q11 Deletion syndrome: a review of some developmental biology aspects of the cardiovascular system

M. Digilio, B. Dallapiccola, B. Marino, 2006, Journal of cardiovascular medicine.

Diagnosis of DiGeorge and Williams syndromes using FISH analysis of peripheral blood smears.

M. Digilio, A. Giannotti, B. Dallapiccola, 1999, Molecular and cellular probes.

RASopathies: Clinical Diagnosis in the First Year of Life

B. Marino, M. Digilio, B. Dallapiccola, 2011, Molecular Syndromology.

Genotype-Phenotype Correlations in Noonan Syndrome

B. Marino, M. Digilio, B. Dallapiccola, 2009 .

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations

M. Digilio, B. Dallapiccola, M. Tartaglia, 2009, European Journal of Human Genetics.

The Heart in Ras-MAPK Pathway Disorders

B. Marino, M. Digilio, B. Dallapiccola, 2009 .

Pigmented villonodular synovitis in a patient with Noonan syndrome and SOS1 gene mutation

M. Digilio, A. Ugazio, B. Dallapiccola, 2008, American journal of medical genetics. Part A.

Clinical lumping and molecular splitting of LEOPARD and NF1/NF1‐Noonan syndromes

M. Digilio, B. Dallapiccola, A. Pizzuti, 2007, American journal of medical genetics. Part A.

Congenital heart defects in Noonan syndrome and RIT1 mutation

M. Digilio, M. Tartaglia, B. Marino, 2016, Genetics in Medicine.

Plant response to feeding aphids promotes aphid dispersal

M. Digilio, F. Pennacchio, M. Coppola, 2018 .

Belowground Mycorrhizal Endosymbiosis and Aboveground Insects: Can Multilevel Interactions be Exploited for a Sustainable Control of Pests?

M. Digilio, E. Guerrieri, 2008 .

Molecular and chemical mechanisms involved in aphid resistance in cultivated tomato.

M. Digilio, M. Maffei, F. Pennacchio, 2010, The New phytologist.

Tomato below ground-above ground interactions: Trichoderma longibrachiatum affects the performance of Macrosiphum euphorbiae and its natural antagonists.

M. Digilio, M. Maffei, G. Lingua, 2013, Molecular plant-microbe interactions : MPMI.

Do interactions between plant roots and the rhizosphere affect parasitoid behaviour?

M. Digilio, G. Berta, G. Lingua, 2004 .

Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal.

B. Marino, M. Digilio, A. Giannotti, 1999, The Journal of pediatrics.

Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review

M. Digilio, B. Leonardi, G. Pongiglione, 2016, American journal of medical genetics. Part A.

Cardiac Defects and Genetic Syndromes: Old Uncertainties and New Insights

M. Digilio, M. Tartaglia, B. Marino, 2021, Genes.

Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect

M. Digilio, B. Dallapiccola, B. Marino, 2020, American journal of medical genetics. Part A.

Impact of DEL22q11, trisomy 21, and other genetic syndromes on surgical outcome of conotruncal heart defects.

M. Digilio, G. Oricchio, B. Marino, 2009, The Journal of thoracic and cardiovascular surgery.

Genetic syndromes and outcome after surgical correction of tetralogy of Fallot.

M. Digilio, G. Oricchio, B. Marino, 2006, The Annals of thoracic surgery.

Congenital heart defects in Kabuki syndrome.

M. Digilio, A. Giannotti, B. Dallapiccola, 2001, American journal of medical genetics.

Expansion of the clinical and molecular spectrum of an XPD‐related disorder linked to biallelic mutations in ERCC2 gene

M. Digilio, B. Dallapiccola, S. Rossi, 2021, Clinical genetics.

Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome.

G. Di Salvo, P. Elliott, M. Digilio, 2007, The American journal of cardiology.

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.

A J Agopian, E. Zackai, M. Owen, 2019, American journal of human genetics.

Temperature Differentially Influences the Capacity of Trichoderma Species to Induce Plant Defense Responses in Tomato Against Insect Pests

M. Digilio, F. Pennacchio, M. Coppola, 2021, Frontiers in Plant Science.

Absorption of sugars and amino acids by the epidermis of Aphidius ervi larvae.

M. Digilio, A. Grimaldi, F. Pennacchio, 2003, Journal of insect physiology.

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

Gianluca Bontempi, J. Vermeesch, T. Lenaerts, 2017, Genome Medicine.

Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects.

J. Korenberg, G. Gimelli, M. Digilio, 2000, Circulation.

Deletion of a 5cM Region at Chromosome 8 p 23 Is Associated With a Spectrum of Congenital Heart Defects

J. Korenberg, G. Gimelli, M. Digilio, 2000 .

Atypical 7q11.23 deletions excluding ELN gene result in Williams–Beuren syndrome craniofacial features and neurocognitive profile

M. Digilio, B. Dallapiccola, A. Novelli, 2020, American journal of medical genetics. Part A.

Characterization of Aphidius ervi (Hymenoptera, Braconidae) ribosomal genes and identification of site-specific insertion elements belonging to the non-LTR retrotransposon family.

M. Digilio, F. Pennacchio, C. Malva, 1995, Insect biochemistry and molecular biology.

Syndromic and Non-Syndromic Patients with Repaired Tetralogy of Fallot: Does It Affect the Long-Term Outcome?

M. Caputo, M. Digilio, B. Leonardi, 2022, Journal of clinical medicine.

Glutathione metabolism and antioxidant enzymes in children with Down syndrome.

E. Bertini, M. Digilio, A. Giannotti, 2003, The Journal of pediatrics.

Genetics of Ebstein Anomaly

M. Digilio, B. Dallapiccola, B. Marino, 2014 .

Some Isolated Cardiac Malformations Can Be Related to Laterality Defects

M. Digilio, B. Marino, Marta Unolt, 2018, Journal of cardiovascular development and disease.

Metabolic and symbiotic interactions in amino acid pools of the pea aphid, Acyrthosiphon pisum, parasitized by the braconid Aphidius ervi.

M. Digilio, G. Febvay, Y. Rahbé, 2002, Journal of insect physiology.

Thricho‐rhino‐phalangeal syndrome and severe osteoporosis: A rare association or a feature? An effective therapeutic approach with biphosphonates

M. Digilio, F. Lepri, A. Angioni, 2014, American journal of medical genetics. Part A.

Coeliac disease in Williams syndrome

M. Digilio, A. Giannotti, B. Dallapiccola, 2001, Journal of medical genetics.

Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation.

P. Pignatti, M. Digilio, A. Giannotti, 1994, Journal of medical genetics.

Interactions between Bt-expressing tomato and non-target insects: the aphid Macrosiphum euphorbiae and its natural enemies

M. Digilio, S. Arpaia, E. Guerrieri, 2012 .

KBG syndrome: Common and uncommon clinical features based on 31 new patients

M. Digilio, B. Dallapiccola, M. Rinelli, 2020, American journal of medical genetics. Part A.

The heart and shell. Anatomical and genetic similarities.

M. Digilio, B. Dallapiccola, B. Marino, 2011, American heart journal.

Postural anomaly of the head‐neck‐shoulder alignment in patients with deletion 22q11.2 (DiGeorge/velocardiofacial syndrome)

M. Digilio, A. Giannotti, B. Dallapiccola, 2003, Clinical genetics.

Autoimmunity and regulatory T cells in 22q11.2 deletion syndrome patients

C. Cancrini, M. Digilio, R. Capolino, 2015, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia.

J. Opitz, M. Digilio, A. Giannotti, 2003, Birth defects research. Part A, Clinical and molecular teratology.

Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis‐van Creveld syndrome caused by hypomorphic mutations in the EVC gene

M. Digilio, P. Lapunzina, M. Tartaglia, 2020, Human mutation.

Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome

M. Digilio, B. Dallapiccola, A. Pizzuti, 2004, Journal of Medical Genetics.

Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism

M. Digilio, B. Dallapiccola, M. Tartaglia, 2017, American journal of medical genetics. Part A.

The Chitinase A from the baculovirus AcMNPV enhances resistance to both fungi and herbivorous pests in tobacco

M. Digilio, F. Pennacchio, L. Fiandra, 2008, Transgenic Research.

Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal.

M. Digilio, A. Giannotti, B. Dallapiccola, 1996, Journal of medical genetics.

Joint dislocation and cerebral anomalies are consistently associated with oral‐facial‐digital syndrome type IV

M. Digilio, A. Giannotti, B. Dallapiccola, 1995, Clinical genetics.

Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study

M. Digilio, M. Tartaglia, G. Zampino, 2021, Journal of clinical medicine.

PTPN11 gene mutations: linking the Gln510Glu mutation to the “LEOPARD syndrome phenotype”

M. Digilio, B. Dallapiccola, G. Limongelli, 2006, European Journal of Pediatrics.

Obsessive Compulsive “Paper Handling”: A Potential Distinctive Behavior in Children and Adolescents with KBG Syndrome

M. Digilio, G. Zampino, V. Ciullo, 2022, Journal of clinical medicine.

Differences and Similarities in Adaptive Functioning between Children with Autism Spectrum Disorder and Williams–Beuren Syndrome: A Longitudinal Study

L. Ravà, M. Digilio, S. Vicari, 2022, Genes.

Congenital cardiovascular disease and velo-cardio-facial syndrome

M. Digilio, B. Marino, A. Carotti, 2005 .

Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions.

R. Scott, M. Digilio, C. Meldrum, 2015, European journal of medical genetics.

Practical guidelines for managing patients with 22q11.2 deletion syndrome.

K. Devriendt, K. Sullivan, A. Bassett, 2011, The Journal of pediatrics.

Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition

M. Digilio, M. Rivera, M. Tartaglia, 2020, Epilepsy & Behavior.

Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A

R. D'Alessandro, M. Digilio, G. Limongelli, 2010, American journal of medical genetics. Part A.

Associated cardiac anomalies in isolated and syndromic patients with tetralogy of Fallot.

B. Marino, M. Digilio, A. Giannotti, 1996, The American journal of cardiology.

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

M. Digilio, B. Dallapiccola, B. Marino, 2018, International journal of cardiology.

Genotype–phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome

G. Di Salvo, M. Digilio, B. Dallapiccola, 2008, American journal of medical genetics. Part A.

Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations

M. Digilio, M. Tartaglia, B. Marino, 2019, Orphanet Journal of Rare Diseases.

Leopard syndrome

M. Digilio, B. Dallapiccola, A. Sarkozy, 2008, Orphanet journal of rare diseases.

Noonan syndrome: Structural abnormalities of the mitral valve causing subaortic obstruction

M. Digilio, A. Giannotti, B. Dallapiccola, 1995, European Journal of Pediatrics.

Noonan syndrome with cardiac left-sided obstructive lesions

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, Human Genetics.

Transposition of the great arteries associated with deletion of chromosome 22q11.

M. Digilio, B. Dallapiccola, G. Novelli, 1995, The American journal of cardiology.

Genetic heterogeneity of isolated noncompaction of the left ventricular myocardium.

M. Digilio, A. Giannotti, B. Dallapiccola, 1999, American journal of medical genetics.

Crossed pulmonary arteries: An underestimated cardiovascular variant with a strong association with genetic syndromes—A report of 74 cases with systematic review of the literature

M. Digilio, B. Marino, A. Secinaro, 2022, American journal of medical genetics. Part A.

Common arterial trunk, DiGeorge syndrome and microdeletion 22q11

M. Digilio, B. Marino, A. Toscano, 2002 .

Screening for celiac disease in patients with deletion 22q11.2 (DiGeorge/velo‐cardio‐facial syndrome)

M. Digilio, A. Giannotti, B. Dallapiccola, 2003, American journal of medical genetics. Part A.

Hepatic fibrosis in Kabuki syndrome

M. Digilio, R. Capolino, V. Nobili, 2004, American journal of medical genetics. Part A.

Holt–Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: Functional characterization of a de novo TBX5 mutation

M. Digilio, G. Pongiglione, L. Pitto, 2014, American journal of medical genetics. Part A.

Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1

M. Digilio, B. Dallapiccola, R. Capolino, 2022, European Journal of Human Genetics.

Anatomic patterns of conotruncal defects associated with deletion 22q11

M. Digilio, A. Giannotti, B. Dallapiccola, 2001, Genetics in Medicine.

22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects

M. Digilio, G. Limongelli, B. Marino, 2022, Children.

Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease.

M. Digilio, V. Caputo, L. Bernardini, 2022, European journal of medical genetics.

Trisomy 18 and hypertrophy cardiomyopathy in an 18‐year‐old woman

M. Digilio, G. Limongelli, P. Calabrò, 2008, American Journal of Medical Genetics. Part A.

Heterotaxia syndromes and 22 qll deletion

M. Digilio, B. Marino, 2022 .

Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects

G. Scarano, V. Gallo, G. Giardino, 2014, BMC Medical Genetics.

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

E. Zackai, K. Sullivan, A. Bassett, 2018, European journal of medical genetics.

Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant

M. Digilio, M. Tartaglia, G. Chillemi, 2022, American journal of medical genetics. Part A.

ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia

M. Digilio, B. Dallapiccola, A. Pizzuti, 2005, American journal of medical genetics. Part A.

Deficiency of the infundibular septum in patients with Interrupted aortic arch and del 22q11

M. Digilio, B. Dallapiccola, B. Marino, 2000, Cardiology in the Young.

22q11 deletions in isolated and syndromic patients with tetralogy of Fallot

M. Digilio, A. Giannotti, B. Dallapiccola, 1995, Human Genetics.

Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot

R. Ravazzolo, M. Digilio, B. Dallapiccola, 2014, American journal of medical genetics. Part A.

Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1

M. Digilio, B. Dallapiccola, V. Guida, 2011, American journal of medical genetics. Part A.

Syndromic non‐compaction of the left ventricle: associated chromosomal anomalies

B. Marino, M. Digilio, B. Dallapiccola, 2013, Clinical genetics.

Expanding the novel MAPKAPK5 –related developmental disorder's genotype–phenotype correlation: Patient report and 19 months of follow‐up

M. Digilio, E. Agolini, G. Colafati, 2022, Clinical genetics.

Deletion 8p syndrome.

M. Digilio, A. Giannotti, B. Dallapiccola, 1998, American journal of medical genetics.

Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non‐syndromic atrioventricular canal defect

M. Digilio, B. Dallapiccola, A. Pizzuti, 2006, American journal of medical genetics. Part A.

The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome

M. Digilio, B. Dallapiccola, E. Agolini, 2020, Medicine.

Exclusion of Cx43 gene mutation as a major cause of criss-cross heart anomaly in man.

M. Digilio, B. Dallapiccola, R. Mingarelli, 2010, International journal of cardiology.

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

H. Cavé, M. Digilio, M. Tartaglia, 2020, European Journal of Human Genetics.

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

G. Scarano, M. Digilio, B. Dallapiccola, 2018, American journal of medical genetics. Part A.

Pediatrics: Letter to the editor [4] (multiple letters)

M. Digilio, B. Marino, T. Trotter, 2001 .

Arrythmogenic Right Ventricular Dysplasia

Colin A. Johnson, T. Bourgeron, K. Lesch, 2016 .

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

M. Digilio, B. Dallapiccola, M. Tartaglia, 2018, Clinical genetics.

Severe, obstructive biventricular hypertrophy in a patient with Costello syndrome: Clinical impact and management.

G. Di Salvo, M. Digilio, B. Dallapiccola, 2008, International journal of cardiology.

Hypoplastic Left Heart Syndrome in Patients With Kabuki Syndrome

M. Digilio, B. Dallapiccola, B. Marino, 2010, Pediatric Cardiology.

Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis

M. Digilio, C. Izzi, G. Merla, 2010, European Journal of Human Genetics.

Congenital heart defects in patients with oculo‐auriculo‐vertebral spectrum (Goldenhar syndrome)

M. Digilio, B. Dallapiccola, R. Capolino, 2008, American journal of medical genetics. Part A.

Conotruncal heart defects: impact of genetic syndromes on immediate operative mortality.

M. Digilio, M. D. De Ioris, B. Marino, 2004, Italian heart journal : official journal of the Italian Federation of Cardiology.

Diffuse coronary dilation in a young patient with LEOPARD syndrome.

M. Digilio, B. Dallapiccola, G. Limongelli, 2006, International journal of cardiology.

Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants

M. Digilio, B. Dallapiccola, M. Tartaglia, 2022, Genes.

1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review

M. Digilio, A. Novelli, M. Bengala, 2021, Journal of cardiovascular development and disease.

Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

M. Digilio, B. Dallapiccola, A. Pizzuti, 2003 .

Exercise Testing and 24-Hour Ambulatory Blood Pressure Monitoring in Children with Williams Syndrome

A. Calzolari, M. Digilio, A. Giannotti, 2001, Pediatric Cardiology.

Nonrandom association of atrioventricular canal and del (8p) syndrome.

B. Marino, M. Digilio, A. Giannotti, 1992, American journal of medical genetics.

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

M. Digilio, B. Dallapiccola, A. Novelli, 2017, Cytogenetic and Genome Research.

Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6

M. Digilio, C. Cini, C. Surace, 2013, BMC Medical Genomics.

Severe herpes virus 6 interstitial pneumonia in an infant with three variants in genes predisposing to lung disease

M. Digilio, S. Rossi, A. Novelli, 2021, Journal of medical virology.

Psychopathological features in Noonan syndrome.

P. Pasqualetti, M. Digilio, M. Tartaglia, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Two novel mutations of the human Δ7-sterol reductase (DHCR7) gene in children with Smith–Lemli–Opitz syndrome

M. Digilio, A. Giannotti, F. Santorelli, 2002 .

Congenital intrahepatic portosystemic venous shunt: An unusual feature in LEOPARD syndrome and in neurofibromatosis type 1

M. Digilio, B. Dallapiccola, R. Capolino, 2005, American journal of medical genetics. Part A.

Neuropsychological features in RASopathies: A pilot study on parent training program involving families of children with Noonan syndrome

M. Digilio, M. Tartaglia, S. Vicari, 2022, American journal of medical genetics. Part C, Seminars in medical genetics.

Noonan syndrome and aortic coarctation.

M. Digilio, A. Giannotti, B. Dallapiccola, 1998, American journal of medical genetics.

Partial atrioventricular canal with left-sided obstruction in patients with Noonan syndrome

M. Digilio, A. Giannotti, B. Dallapiccola, 1996, Pediatric Cardiology.

Screening for 22q11.2 microdeletion in adults with tetralogy of Fallot

M. Digilio, B. Dallapiccola, B. Marino, 2011, Heart.

Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype

M. Digilio, C. Leoni, A. Novelli, 2021, American journal of medical genetics. Part A.

Nonsyndromic Pulmonary Valve Stenosis and the PTPN11 Gene

M. Digilio, B. Dallapiccola, A. Pizzuti, 2003, American journal of medical genetics. Part A.

Mutation in SHOC2 promotes aberrant protein N-myristoylation and underlies Noonan-like syndrome with loose anagen hair

Ravi Iyengar, Avi Ma'ayan, Wendy Schackwitz, 2009, Nature Genetics.

Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2‐year‐old girl

M. Digilio, E. Agolini, A. Novelli, 2020, American journal of medical genetics. Part A.

Audiological findings in patients with microdeletion 22q11 (di George/velocardiofacial syndrome).

M. Digilio, A. Giannotti, B. Dallapiccola, 1999, British journal of audiology.

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

A. Baldini, M. Digilio, B. Marino, 2019, bioRxiv.

Genotype–phenotype spectrum and correlations in Xia‐Gibbs syndrome: Report of five novel cases and literature review

P. Striano, N. Brunetti‐Pierri, G. Scarano, 2022, Birth defects research.

Secondary metabolites from the endophytic fungus Talaromyces pinophilus

M. Digilio, A. Sacco, M. Lorito, 2017, Natural product research.

Insecticide activity of Mediterranean essential oils

M. Digilio, E. Mancini, V. De Feo, 2008 .

ORIGINAL ARTICLE Insecticide activity of Mediterranean essential oils

M. Digilio, E. Mancini, V. Feo, 2008 .

Trichoderma atroviride P1 Colonization of Tomato Plants Enhances Both Direct and Indirect Defense Barriers Against Insects

M. Digilio, F. Pennacchio, E. Guerrieri, 2019, Front. Physiol..

Chlamyphilone, a Novel Pochonia chlamydosporia Metabolite with Insecticidal Activity

M. Digilio, P. Mazzei, A. Piccolo, 2019, Molecules.

An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).

M. Digilio, A. Giannotti, B. Dallapiccola, 1995, Journal of medical genetics.

Host regulation and nutritional exploitation by parasitic wasps.

M. Digilio, F. Pennacchio, S. Caccia, 2014, Current opinion in insect science.

Transcriptomic and proteomic analysis of a compatible tomato-aphid interaction reveals a predominant salicylic acid-dependent plant response

A. Scaloni, M. Digilio, G. Renzone, 2013, BMC Genomics.

Selection of Endophytic Beauveria bassiana as a Dual Biocontrol Agent of Tomato Pathogens and Pests

M. Digilio, David Turrà, F. Pennacchio, 2021, Pathogens.

Transcriptome and Metabolome Reprogramming in Tomato Plants by Trichoderma harzianum strain T22 Primes and Enhances Defense Responses Against Aphids

M. Digilio, F. Pennacchio, G. Giuliano, 2019, Front. Physiol..

Trichoderma harzianum enhances tomato indirect defense against aphids

M. Digilio, F. Pennacchio, M. Chiusano, 2017, Insect science.

Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review

M. Digilio, C. Leoni, G. Zampino, 2023, Genes.

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

K. Devriendt, J. Clayton-Smith, S. Bhaskar, 2017, American journal of human genetics.

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

Douglas P. Larsen, D. Nickerson, M. Bamshad, 2018, American journal of human genetics.

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

A. Battaglia, M. Digilio, B. Dallapiccola, 2005, American journal of human genetics.

JAG1 Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot

M. Digilio, B. Dallapiccola, V. Guida, 2013, American journal of medical genetics. Part A.

Concordant familial segregation of atrial septal defect and Axenfeld–Rieger anomaly in father and son

M. Digilio, B. Dallapiccola, R. Capolino, 2006, Clinical dysmorphology.

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

A. Reymond, G. Scarano, O. Gabrielli, 2011, Orphanet journal of rare diseases.

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies

J. Tolmie, M. Digilio, F. Brancati, 2015, Circulation. Cardiovascular genetics.

Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well‐established knowledge to new frontiers

E. Zackai, M. Digilio, J. Gaynor, 2018, American journal of medical genetics. Part A.

Congenital heart disease and genetic syndromes: new insights into molecular mechanisms

A. Baldini, M. Digilio, M. Tartaglia, 2017, Expert review of molecular diagnostics.

High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

A. Battaglia, P. Fortina, S. Surrey, 2010, European Journal of Human Genetics.

Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome

M. Digilio, R. Capolino, C. Surace, 2011, Orphanet journal of rare diseases.

Thyroid morphology and subclinical hypothyroidism in children and adolescents with Williams syndrome.

M. Digilio, R. Capolino, S. Loche, 2007, The Journal of pediatrics.

Association of deletion 22 and trisomy 21: A likely random association in patients with conotruncal heart defects

M. Digilio, B. Dallapiccola, B. Marino, 2005, American journal of medical genetics. Part A.

Digitalcommons@shu Speech-language Pathology Faculty Publications Speech-language Pathology Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and Digeorge Syndromes

A. Auton, T. Werge, E. Zackai, 2022 .

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

Deanne M. Taylor, E. Zackai, K. Coleman, 2016, Human Genetics.

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.

Stephan Eliez, Tingwei Guo, Xiaowu Gai, 2015, American journal of human genetics.

Copy-Number Variation of the Glucose Transporter Gene SLC 2 A 3 and Congenital Heart Defects in the 22 q 11 . 2 Deletion Syndrome

E. Zackai, T. Shaikh, K. Coleman, 2022 .

Novel clinical features associated with Clouston syndrome

M. Digilio, C. Willoughby, M. Rinelli, 2019, International journal of dermatology.

Kabuki syndrome: clinical and molecular diagnosis in the first year of life

M. Digilio, B. Dallapiccola, R. Capolino, 2014, Archives of Disease in Childhood.

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.

M. Digilio, J. Goodship, P. Lapunzina, 2015, Human molecular genetics.

Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation

M. Digilio, E. Agolini, A. Cacchione, 2019, American journal of medical genetics. Part A.

Manic and Depressive Symptoms in Children Diagnosed with Noonan Syndrome

M. Digilio, A. D’Amico, M. Tartaglia, 2021, Brain sciences.

Defining language disorders in children and adolescents with Noonan Syndrome

M. Digilio, M. Tartaglia, R. Capolino, 2020, Molecular genetics & genomic medicine.

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

Monia Magliozzi, Bruno Dallapiccola, Alessandro Sartorio, 2017, Human mutation.

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations

M. Digilio, B. Gelb, B. Dallapiccola, 2015, Human mutation.

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing

Tiziana Franchin, Bruno Dallapiccola, Maria Cristina Digilio, 2014, BMC Medical Genetics.

SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype–Phenotype Correlations

O. Gabrielli, M. Digilio, B. Gelb, 2011, Human mutation.

A standard echocardiographic and tissue Doppler study of morphological and functional findings in children with hypertrophic cardiomyopathy compared to those with left ventricular hypertrophy in the setting of Noonan and LEOPARD syndromes

G. Di Salvo, M. Digilio, G. Limongelli, 2008, Cardiology in the Young.

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

Michael J Ackerman, Wendy Schackwitz, Claudio Carta, 2007, Nature Genetics.

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

Wendy Schackwitz, Claudio Carta, Bruno Dallapiccola, 2006, Nature Genetics.

Cancer Prone Disease Section

M. Digilio, Piazza S. Onofrio, 2005 .

- Beuren syndrome patients with atypical segmental aneuploidies identify new Two high throughput technologies to detect

C. Howald, A. Reymond, S. Deutsch, 2006 .

Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions

C. Howald, A. Reymond, S. Antonarakis, 2005, Journal of Medical Genetics.

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Ravi Iyengar, Avi Ma’ayan, Wendy Schackwitz, 2009 .

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

Antonio Novelli, Emanuele Agolini, Maria Cristina Digilio, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case

T. Mazza, S. Castellana, M. Digilio, 2022, Journal of Human Genetics.

Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo–Cardio–Facial) syndrome

M. Digilio, B. Dallapiccola, R. Capolino, 2016, American journal of medical genetics. Part A.

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Alex V. Kotlar, Sunny X. Tang, E. Zackai, 2020, Molecular Psychiatry.

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

M. Digilio, B. Dallapiccola, A. Novelli, 2018, Cytogenetic and Genome Research.

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome

N. Brunetti‐Pierri, T. Mazza, M. Digilio, 2023, European Journal of Human Genetics.

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

M. Digilio, B. Dallapiccola, A. Bruselles, 2018, Clinical genetics.

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.

Monia Magliozzi, Bruno Dallapiccola, Alessandro De Luca, 2013, European journal of medical genetics.

Atrioventricular Canal Defect: Anatomical and Genetic Characteristics

M. Digilio, B. Dallapiccola, E. Conti, 2007 .

Ellis‐van Creveld Syndrome with hydrometrocolpos is not linked to chromosome arm 4p or 20p

M. Digilio, A. Giannotti, B. Dallapiccola, 2004, American journal of medical genetics. Part A.

KBG syndrome in a cohort of Italian patients

M. Digilio, F. Brancati, B. Dallapiccola, 2004, American journal of medical genetics. Part A.

Epilepsy in KBG syndrome

M. Digilio, F. Vigevano, D. Serino, 2022, Developmental medicine and child neurology.

Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations

F. Garaci, M. Digilio, F. Brancati, 2013, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Congenital heart defects in molecularly confirmed KBG syndrome patients

M. Digilio, B. Dallapiccola, R. Capolino, 2021, American journal of medical genetics. Part A.

Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature.

M. Digilio, Alessandra Bianchi, E. Sitzia, 2017, International journal of pediatric otorhinolaryngology.

Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG Syndrome

P. Pasqualetti, M. Digilio, M. Tartaglia, 2019, Brain sciences.

Langer-Giedion syndrome. A patient without mental retardation and a large 8q23.2-q24.22 deletion.

M. Digilio, A. Giannotti, G. Tiberio, 1999, Minerva pediatrica.

Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)

S. Bianca, R. Tenconi, T. Mazza, 2021, International journal of molecular sciences.

A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum

M. Digilio, B. Dallapiccola, V. Guida, 2015, American journal of medical genetics. Part A.

Pea aphid clonal resistance to the endophagous parasitoid Aphidius ervi.

M. Digilio, W. Weisser, P. Falabella, 2002, Journal of insect physiology.

Host regulation effects of ovary fluid and venom of Aphidius ervi (Hymenoptera: Braconidae).

M. Digilio, F. Pennacchio, E. Tremblay, 1998, Journal of insect physiology.

Morphology and development of larval instars of Aphidius ervi Haliday (Hymenoptera, Braconidae, Aphidiinae).

M. Digilio, F. Pennacchio, 1989 .

Aphid-plant interactions: a review

M. Digilio, E. Guerrieri, 2008 .

Costello syndrome: clinical diagnosis in the first year of life

M. Digilio, B. Dallapiccola, R. Capolino, 2008, European Journal of Pediatrics.

Familial atrioventricular septal defect: possible genetic mechanism.

M. Digilio, A. Giannotti, B. Dallapiccola, 1994, British heart journal.

16p subtelomeric duplication: a clinically recognizable syndrome

M. Digilio, B. Dallapiccola, L. Bernardini, 2009, European Journal of Human Genetics.

Systemin Regulates Both Systemic and Volatile Signaling in Tomato Plants

M. Digilio, E. Guerrieri, P. Cascone, 2007, Journal of Chemical Ecology.

Genetic syndromes and congenital heart defects: how is surgical management affected?

M. Digilio, A. Giardini, B. Marino, 2009, European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery.

Cardiovascular disease in Down syndrome

M. Digilio, B. Marino, P. Versacci, 2018, Current opinion in pediatrics.

Behavior Problems and Attention Deficit Hyperactivity Disorder in Children and Adolescents with Neurofibromatosis Type 1

M. Digilio, R. Capolino, V. D. Ciommo, 2017 .

Larval anatomy and structure of absorbing epithelia in the aphid parasitoid Aphidius ervi Haliday (Hymenoptera, Braconidae).

M. Digilio, A. Grimaldi, F. Pennacchio, 2001, Arthropod structure & development.

Development and nutrition of the braconid wasp, Aphidius ervi in aposymbiotic host aphids

M. Digilio, P. Falabella, F. Pennacchio, 1999 .

Biochemical and metabolic alterations in Acyrthosiphon pisum parasitized by Aphidius ervi

M. Digilio, F. Pennacchio, E. Tremblay, 1995 .

Host recognition and acceptance behaviour in two aphid parasitoid species: Aphidius ervi and Aphidius microlophii (Hymenoptera: Braconidae)

M. Digilio, F. Pennacchio, A. Tranfaglia, 1994, Bulletin of Entomological Research.

Familial postaxial acrofacial dysostosis syndrome.

M. Digilio, A. Giannotti, B. Dallapiccola, 1992, Journal of medical genetics.

What Is New in Genetics of Congenital Heart Defects?

M. Digilio, B. Marino, 2016, Front. Pediatr..

Atrioventricular canal defect and hypoplastic left heart syndrome as discordant congenital heart defects in twins.

M. Digilio, A. Giannotti, B. Dallapiccola, 1999, Teratology.

7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling

M. Digilio, B. Dallapiccola, M. Tartaglia, 2020, Brain sciences.

Recurrent duplications of 17q12 associated with variable phenotypes

Tomas W. Fitzgerald, N. Carter, A. Alberti, 2015, American journal of medical genetics. Part A.

Adolescents at ultra-high risk for psychosis with and without 22q11 deletion syndrome: A comparison of prodromal psychotic symptoms and general functioning

P. Girardi, M. Digilio, A. Lin, 2012, Schizophrenia Research.

Familial transposition of the great arteries caused by multiple mutations in laterality genes

M. Digilio, B. Dallapiccola, V. Guida, 2009, Heart.

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

H. Brunner, J. Hurst, M. Digilio, 2021, Genetics in Medicine.

Further insight into the neurobehavioral pattern of children carrying the 2p16.3 heterozygous deletion involving NRXN1: Report of five new cases

M. Digilio, M. Tartaglia, A. Novelli, 2020, Genes, brain, and behavior.

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

B. Marino, M. Digilio, B. Dallapiccola, 2019, Clinical genetics.

Atrioventricular Canal Defect as a Sign of Laterality Defect in Ellis-van Creveld and Polydactyly Syndromes With Ciliary and Hedgehog Signaling Dysfunction

M. Digilio, B. Dallapiccola, B. Marino, 2012, Pediatric Cardiology.

Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.

S. Robertson, M. Digilio, F. Kortüm, 2020, European journal of medical genetics.

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.

S. Pro, M. Digilio, R. Person, 2018, American journal of human genetics.

Clinical features and follow-up in patients with 22q11.2 deletion syndrome.

E. Cirillo, R. Consolini, A. Plebani, 2014, The Journal of pediatrics.

Chromosome 22q11 microdeletion and isolated conotruncal heart defects

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, Archives of disease in childhood.

Ext‐mutation analysis in Italian sporadic and hereditary osteochondromas

M. Digilio, M. Gigante, V. Fazio, 2001, International journal of cancer.

The atrioventricular canal defect is the congenital heart disease connecting short rib-polydactyly and oral-facial-digital syndromes.

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, American journal of medical genetics.

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

E. Bertini, M. Digilio, B. Dallapiccola, 2020, BMC Pediatrics.

Smith–Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature

M. Digilio, C. Leoni, G. Zampino, 2021, American journal of medical genetics. Part A.

Genetics of atrioventricular canal defects

M. Digilio, B. Marino, Enrica de Luca, 2020, Italian Journal of Pediatrics.

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

M. Digilio, M. Tartaglia, S. Giustini, 2019, Genes.

Atrioventricular canal defect in Bardet-Biedl syndrome: Clinical evidence supporting the link between atrioventricular canal defect and polydactyly syndromes with ciliary dysfunction536

M. Digilio, B. Dallapiccola, B. Marino, 2006, Genetics in Medicine.

Comparison of occurrence of genetic syndromes in ventricular septal defect with pulmonic stenosis (classic tetralogy of Fallot) versus ventricular septal defect with pulmonic atresia.

M. Digilio, A. Giannotti, B. Dallapiccola, 1996, The American journal of cardiology.

Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, Pediatric Cardiology.

Down's Syndrome and Celiac Disease: The Prevalence of High IgA‐Antigliadin Antibodies and HLA‐DR and DQ Antigens in Trisomy 21

M. Digilio, A. Giannotti, L. Mottola, 1993, Journal of pediatric gastroenterology and nutrition.

Antigliandin and antiendomysial antibodies in children with Down's syndrome

M. Digilio, M. Castro, F. Ferretti, 2000 .

Heterotaxia syndromes and 22q11 deletion.

M. Digilio, A. Giannotti, B. Dallapiccola, 1996, Journal of medical genetics.

Atrioventricular canal associated with trisomy 9.

B. Marino, M. Digilio, A. Giannotti, 1989, Chest.

selected Atrioventricular Canal Associated with Trisomy 9 *

M. Digilio, B. Dallapiccola, B. Marina, 2022 .

Familial recurrence of discrete membranous subaortic stenosis.

M. Digilio, B. Marino, G. Piacentini, 2007, The Journal of thoracic and cardiovascular surgery.

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

T. Mazza, M. Digilio, B. Dallapiccola, 2018, Human mutation.

Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion.

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, Journal of medical genetics.

Zucchini Plants Alter Gene Expression and Emission of (E)-β-Caryophyllene Following Aphis gossypii Infestation

M. Digilio, N. D’Agostino, Alessia Vitiello, 2021, Frontiers in Plant Science.

Telomere shortening and telomere position effect in mild ring 17 syndrome

Letizia Da Sacco, A. Masotti, M. Digilio, 2014, Epigenetics & Chromatin.

Bioassay-oriented isolation of an insecticide from Ailanthus altissima

M. Digilio, M. Curini, E. Mancini, 2009 .

The mendelian basis of congenital heart defects

M. Digilio, A. Giannotti, B. Dallapiccola, 1996, Cardiology in the Young.

recessive syndrome . syndrome : delineation of an autosomal Conotruncal heart defect / microphthalmia

M. Digilio, A. Giannotti, B. Dallapiccola, 2004 .

Familial recurrence of nonsyndromic interrupted aortic arch and truncus arteriosus with atrioventricular canal.

M. Digilio, A. Giannotti, B. Dallapiccola, 2000, Teratology.

Conotruncal heart defect/microphthalmia syndrome: delineation of an autosomal recessive syndrome.

B. Marino, M. Digilio, A. Giannotti, 1997, Journal of medical genetics.

Deletion 22q11 and isolated congenital heart disease.

M. Digilio, B. Dallapiccola, B. Marino, 2008, International journal of cardiology.

Familial Recurrence Risks of Congenital Heart Defects

M. Digilio, B. Dallapiccola, R. Capolino, 2007 .

DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene

M. Digilio, B. Dallapiccola, A. Pizzuti, 2003, European Journal of Human Genetics.

Congenital heart defect in sibs with discordant karyotypes.

B. Marino, M. Digilio, A. Giannotti, 1998, American journal of medical genetics.

Intrafamilial variability of Pfeiffer-type cardiocranial syndrome.

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, American journal of medical genetics.

Familial recurrence of transposition of the great arteries and intact ventricular septum.

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, American journal of medical genetics.

Establishment and Characterization of a Cell Line (S-RMS1) Derived from an Infantile Spindle Cell Rhabdomyosarcoma with SRF-NCOA2 Fusion Transcript

M. Digilio, M. Rinelli, E. Miele, 2021, International journal of molecular sciences.

Familial recurrence of transposition of the great arteries

M. Digilio, B. Dallapiccola, B. Marino, 1998, The Lancet.

Exclusion of 22q11 deletion in Noonan syndrome with tetralogy of Fallot.

M. Digilio, A. Giannotti, B. Dallapiccola, 1996, American journal of medical genetics.

Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothers.

M. Digilio, E. Agolini, A. Novelli, 2019, International journal of pediatric otorhinolaryngology.

TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations

M. Digilio, B. Dallapiccola, E. Agolini, 2020, American journal of medical genetics. Part A.

Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes

A Mari, J. Korenberg, M. Digilio, 1999, Journal of medical genetics.

SARS-CoV-2 and Pre-Tamponade Pericardial Effusion. Could Sotos Syndrome Be a Major Risk Factor?

M. Digilio, R. Capolino, M. Gagliardi, 2021, Genes.

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

M. Digilio, B. Mandriani, G. Merla, 2013, European Journal of Human Genetics.

Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome (deletion 22q11.2 syndrome)

M. Digilio, A. Giannotti, B. Dallapiccola, 2001, Genetics in Medicine.

Behavioral phenotype in Costello syndrome with atypical mutation: A case report

M. Digilio, B. Dallapiccola, M. Tartaglia, 2015, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Familial deletions of chromosome 22q11.

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, American journal of medical genetics.

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.

M. Digilio, B. Dallapiccola, L. Bernardini, 2013, European journal of medical genetics.

The search for hemizygosity at 22qll in patients with isolated cleft palate.

M. Digilio, A. Giannotti, B. Dallapiccola, 1996, Journal of craniofacial genetics and developmental biology.

Comparison of Adaptive Functioning in Children with Williams Beuren Syndrome and Autism Spectrum Disorder: A Cross‐Syndrome Study

M. Digilio, S. Vicari, P. Alfieri, 2020, Autism research : official journal of the International Society for Autism Research.

Telomere shortening and telomere position effect in mild ring 17 syndrome

Andrea Masotti, Cecilia Surace, Maria Cristina Digilio, 2014, Epigenetics & Chromatin.

Neurobehavioral features in individuals with Kabuki syndrome

M. Digilio, M. Tartaglia, S. Vicari, 2018, Molecular genetics & genomic medicine.

Neurofibromatosis type 1 and cerebellar T2‐hyperintensities: the relationship to cognitive functioning

M. Digilio, R. Capolino, D. Longo, 2012, Developmental medicine and child neurology.

Clinical spectrum of Kabuki‐like syndrome caused by HNRNPK haploinsufficiency

M. Digilio, B. Dallapiccola, M. Tartaglia, 2018, Clinical genetics.

Deletion 11q23-->qter (Jacobsen syndrome). Report of three new patients.

M. Digilio, A. Giannotti, B. Dallapiccola, 1992, Annales de genetique.

Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development.

M. Digilio, A. Giannotti, B. Dallapiccola, 1994, Journal of medical genetics.

3q29 microdeletion: A mental retardation disorder unassociated with a recognizable phenotype in two mother–daughter pairs

M. Digilio, B. Dallapiccola, L. Bernardini, 2009, American journal of medical genetics. Part A.

H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome

S. Mundlos, M. Spielmann, M. Digilio, 2019, Journal of Medical Genetics.

Atrioventricular canal and 3C (cranio-cerebello-cardiac) syndrome.

M. Digilio, A. Giannotti, B. Dallapiccola, 1995, American journal of medical genetics.

Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange–like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome

M. Digilio, B. Dallapiccola, A. Novelli, 2018, Annals of human genetics.

Multiplex Ligation-Dependent Probe Amplification Analysis of GATA4 Gene Copy Number Variations in Patients with Isolated Congenital Heart Disease

M. Digilio, B. Dallapiccola, V. Guida, 2010, Disease markers.

Expanding the clinical spectrum associated with PACS2 mutations

M. Digilio, B. Dallapiccola, M. Tartaglia, 2019, Clinical genetics.

Impact of genetic studies on comprehension and treatment of congenital heart disease

M. Digilio, B. Marino, Marta Unolt, 2018, Progress in Pediatric Cardiology.

FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy–Walker malformation carrying a de novo 8p deletion

E. Bertini, E. Mercuri, Massimiliano Valeriani, 2011, neurogenetics.

FGF 17 , a gene involved in cerebellar development , is downregulated in a patient with Dandy – Walker malformation carrying a de novo 8 p deletion

E. Bertini, E. Mercuri, Massimiliano Valeriani, 2011 .

Transcriptomic and proteomic analysis of a compatible tomato-aphid interaction reveals a predominant salicylic acid-dependent plant response

A. Scaloni, M. Digilio, G. Renzone, 2013, BMC Genomics.

Atrioventricular canal and 8p- syndrome.

M. Digilio, A. Giannotti, B. Dallapiccola, 1993, American journal of medical genetics.

Neurodevelopmental and genetic findings in neonates with intracranial arteriovenous shunts: A case series

D. Longo, S. Pro, M. Digilio, 2023, Frontiers in Pediatrics.

TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations.

M. Digilio, B. Dallapiccola, M. Tartaglia, 2019, European journal of medical genetics.

Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects

S. Bianca, M. Digilio, F. Brancati, 2021, Clinical genetics.

Congenital heart defects in molecularly proven Kabuki syndrome patients

M. Digilio, B. Dallapiccola, R. Capolino, 2017, American journal of medical genetics. Part A.

Pure trisomy 19p syndrome in an infant with an extra ring chromosome

M. Digilio, B. Dallapiccola, L. Bernardini, 2005, Cytogenetic and Genome Research.

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.

Ellen F. Macnamara, Barbara N. Pusey, J. Rosenfeld, 2023, American journal of human genetics.

Visual perception skills: a comparison between patients with Noonan syndrome and 22q11.2 deletion syndrome

M. Digilio, M. Tartaglia, G. Zampino, 2017, Genes, brain, and behavior.

A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot

M. Copetti, M. Digilio, B. Dallapiccola, 2012, European Journal of Human Genetics.

A soil fungus confers plant resistance against a phytophagous insect by disrupting the symbiotic role of its gut microbiota

M. Digilio, F. Pennacchio, M. Casartelli, 2023, Proceedings of the National Academy of Sciences of the United States of America.

CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon

M. Digilio, B. Dallapiccola, F. Lepri, 2015, BMC Medical Genetics.

Andersen disease

Colin A. Johnson, T. Bourgeron, K. Lesch, 2019 .

Search for 22q11 deletion in non-syndromic conotruncal cardiac defects

M. Digilio, A. Giannotti, B. Dallapiccola, 1996, European Journal of Pediatrics.

Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors

M. Digilio, B. Dallapiccola, A. Pizzuti, 2005, Journal of Medical Genetics.

Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): exclusion from the critical region on 8p.

B. Marino, M. Digilio, A. Giannotti, 1995, American journal of medical genetics.

Risk of congenital heart defects in relatives of patients with atrioventricular canal.

M. Digilio, A. Giannotti, B. Dallapiccola, 1993, American journal of diseases of children.

Exclusion of linkage with chromosome 21 in families with recurrence of non-Down's atrioventricular canal

M. Digilio, A. Giannotti, B. Dallapiccola, 1994, Human Genetics.

Familial atrioventricular septal defect: possible genetic mechanism.

M. Digilio, A. Giannotti, B. Dallapiccola, 1994, British heart journal.

Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype.

M. Digilio, A. Giannotti, B. Dallapiccola, 1994, American journal of medical genetics.

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

M. Digilio, B. Dallapiccola, G. Merla, 2017, International journal of molecular sciences.

Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome

M. Digilio, A. Giannotti, B. Dallapiccola, 1995, Human Genetics.

Severe truncal valve dysplasia: association with DiGeorge syndrome?

M. Digilio, B. Dallapiccola, B. Marino, 1998, The Annals of thoracic surgery.

Tricuspid atresia and 22q11 deletion.

B. Marino, M. Digilio, A. Giannotti, 1997, American journal of medical genetics.

22q11.2 deletion (DiGeorge) syndrome: a mother’s open letter

A. Baldini, M. Digilio, B. Marino, 2011 .

Tetralogy of Fallot with aortic valvular stenosis and deletion 22q11.

M. Digilio, B. Marino, F. Mileto, 2003, Annals of Thoracic Surgery.

Spinal ependymoma in a patient with Kabuki syndrome: a case report

C. Marras, M. Digilio, R. Capolino, 2015, BMC Medical Genetics.

Recognition Memory in Noonan Syndrome

G. Carlesimo, M. Digilio, M. Tartaglia, 2021, Brain sciences.

FOXI3 pathogenic variants cause one form of craniofacial microsomia

J. Lupski, Xiaogang Wang, S. Antonarakis, 2023, Nature Communications.

Maternal diabetes causing DiGeorge anomaly and renal agenesis.

M. Digilio, A. Giannotti, B. Marino, 1995, American journal of medical genetics.

Conotruncal heart defects and chromosome 22q11 microdeletion.

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, The Journal of pediatrics.

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.

A. Pagnamenta, P. Bauer, Jenny C. Taylor, 2020, American journal of human genetics.

A new observation of acro‐cardio‐facial syndrome substantiates interindividual clinical variability

M. Digilio, B. Dallapiccola, R. Mingarelli, 2005, American journal of medical genetics. Part A.

Atrioventricular canal defect as partial expression of heterotaxia in patients with Bardet-Biedl syndrome.

M. Digilio, V. Guida, B. Marino, 2019, The Journal of pediatrics.

Deep Intronic LINE-1 Insertions in NF1: Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements

M. Digilio, B. Dallapiccola, R. Capolino, 2023, Biomolecules.

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

H. Cavé, M. Digilio, M. Tartaglia, 2020, European Journal of Human Genetics.

Analysis of gut microbiota in patients with Williams–Beuren Syndrome reveals dysbiosis linked to clinical manifestations

M. Digilio, B. Dallapiccola, R. Capolino, 2023, Scientific reports.

Long Term Memory Profile of Disorders Associated with Dysregulation of the RAS-MAPK Signaling Cascade

E. Mercuri, M. Digilio, M. Tartaglia, 2011, Behavior genetics.

Shells and heart: Are human laterality and chirality of snails controlled by the same maternal genes?

M. Digilio, B. Dallapiccola, B. Marino, 2010, American journal of medical genetics. Part A.

Transposition of the great arteries in asplenia and polysplenia phenotypes.

M. Digilio, R. Capolino, B. Marino, 2002, American journal of medical genetics.

Anatomically corrected malposition of the great arteries (S,L,D) with mutation of Nodal gene

M. Digilio, A. Novelli, B. Marino, 2022, Cardiology in the Young.

Types of cardiac defects in children with Down's syndrome

M. Digilio, B. Marino, S. Placidi, 2006, Cardiology in the Young.

Prosystemin Overexpression in Tomato Enhances Resistance to Different Biotic Stresses by Activating Genes of Multiple Signaling Pathways

M. Digilio, F. Pennacchio, M. Coppola, 2014, Plant Molecular Biology Reporter.

Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects

Joshua S. Clayton, R. Carrozzo, M. Digilio, 2021, Human mutation.

GATA4 as candidate gene for pericardial defects.

M. Digilio, B. Marino, Claudia Saffirio, 2007, The Annals of thoracic surgery.

Interactions between tomato volatile organic compounds and aphid behaviour

M. Digilio, E. Guerrieri, P. Cascone, 2012 .

Liebenberg syndrome: brachydactyly with joint dysplasia (MIM 186550): a second family

M. Digilio, A. Giannotti, G. Tiberio, 2000, Journal of medical genetics.

Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister–Killian syndrome

M. Digilio, B. Dallapiccola, R. Capolino, 2017, American journal of medical genetics. Part A.

Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results

M. Digilio, B. Dallapiccola, M. Tartaglia, 2017, Data in brief.

Radiographic findings in Wiedemann-Rautenstrauch syndrome

M. Digilio, A. Giannotti, B. Dallapiccola, 2005, Pediatric Radiology.

Turner's syndrome with atrioventricular canal

M. Digilio, A. Giannotti, B. Dallapiccola, 1991, Pediatric Cardiology.

Radial aplasia and chromosome 22q11 deletion.

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, Journal of medical genetics.

Pulmonary atresia with ventricular septal defect: prevalence of deletion 22q11 in the different anatomic patterns.

M. Digilio, A. Giannotti, B. Dallapiccola, 2001 .

Guidelines for 22q11 deletion screening of patients with conotruncal defects.

B. Marino, M. Digilio, A. Giannotti, 1999, Journal of the American College of Cardiology.

Isolated conotruncal heart defects are really related to microdeletion of chromosome 22q11

M. Digilio, A. Giannotti, B. Dallapiccola, 1996 .

Indicated prevention with long‐chain polyunsaturated omega‐3 fatty acids in patients with 22q11DS genetically at high risk for psychosis. Protocol of a randomized, double‐blind, placebo‐controlled treatment trial

M. Digilio, M. Pontillo, S. Vicari, 2016, Early intervention in psychiatry.

Ventricular septal defect and deletion of chromosome 22q11: anatomical types and aortic arch anomalies

M. Digilio, A. Giannotti, B. Dallapiccola, 2001, European Journal of Pediatrics.

Gershoni‐Baruch syndrome: First report of a surviving child

M. Digilio, A. Conforti, A. Baban, 2016, American journal of medical genetics. Part A.

Heterotaxy with left atrial isomerism in a patient with deletion 18p.

M. Digilio, A. Giannotti, B. Dallapiccola, 2000, American journal of medical genetics.

Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness

M. Digilio, M. Tartaglia, G. Merla, 2023, Clinical genetics.

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N‐terminal TUBB gene

M. Digilio, B. Dallapiccola, R. Capolino, 2018, Clinical genetics.

Deletion 22q11 in patients with interrupted aortic arch.

B. Marino, M. Digilio, A. Giannotti, 1999, The American journal of cardiology.

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

Deanne M. Taylor, E. Zackai, K. Coleman, 2016, Human Genetics.

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

S. Robertson, K. Devriendt, M. Digilio, 2023, Journal of Medical Genetics.

Osteopathia striata with cranial sclerosis: a new case supporting the link with bilateral Wilms tumor

F. Camassei, M. Digilio, A. Novelli, 2022, European Journal of Human Genetics.

Adenomatous Polyposis, Familial

Colin A. Johnson, T. Bourgeron, K. Lesch, 2009 .

Acute colonic pseudo‐obstruction

T. Bourgeron, J. Sznajder, E. Viding, 1992, The British journal of surgery.

Aromatic L-amino acid decarboxylase deficiency

T. Bourgeron, K. Lesch, J. Sznajder, 2020, Definitions.

Leopard syndrome

M. Digilio, B. Dallapiccola, A. Sarkozy, 2008, Orphanet journal of rare diseases.

Recurrent duplications of 17q12 associated with variable phenotypes

Tomas W. Fitzgerald, N. Carter, A. Alberti, 2015, American journal of medical genetics. Part A.

Behavioral Profile in RASopathies

E. Mercuri, M. Digilio, M. Tartaglia, 2014, American journal of medical genetics. Part A.

Secondary metabolites from the endophytic fungus Talaromyces pinophilus

M. Digilio, M. Lorito, S. Woo, 2017, Natural product research.

Andersen-Tawil syndrome

E. Viding, G. Kojda, M. Digilio, 2020, Definitions.

Practical guidelines for managing patients with 22q11.2 deletion syndrome.

K. Devriendt, K. Sullivan, A. Bassett, 2011, The Journal of pediatrics.

Health Supervision for Children With Down Syndrome

M. Digilio, B. Marino, R. D. Di Donato, 1994, Pediatrics.

Williams–Beuren syndrome shapes the gut microbiota metaproteome

M. Digilio, R. Capolino, L. Putignani, 2023, Scientific reports.

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the &ITGPR98&IT Locus on 5q14.3

A J Agopian, Jonathan H. Chung, E. Zackai, 2022 .

Progeroid syndrome with characteristic facial appearance and hand anomalies in father and son.

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, American journal of medical genetics.

Androgen insensitivity syndrome.

T. Bourgeron, E. Viding, G. Kojda, 2019, Bailliere's clinical endocrinology and metabolism.

Neonatal persistent pulmonary hypertension related to a novel TBX4 mutation: case report and review of the literature

M. Digilio, A. Dotta, R. Adorisio, 2024, Italian journal of pediatrics.

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS and sporadic congenital heart disease

C. Marshall, D. Heine-Suñer, D. Zheng, 2022, bioRxiv.

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 1 22q11.2DS and sporadic congenital heart disease 2

M. Owen, C. Marshall, Zhengdong D. Zhang, 2022 .

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies

J. Tolmie, M. Digilio, F. Brancati, 2015, Circulation. Cardiovascular genetics.

Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.

C. Mervis, M. Digilio, G. Merla, 2024, Journal of the American Heart Association.

Tomato below ground-above ground interactions: Trichoderma longibrachiatum affects the performance of Macrosiphum euphorbiae and its natural antagonists.

M. Digilio, M. Maffei, G. Lingua, 2013, Molecular plant-microbe interactions : MPMI.

Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care

M. Digilio, M. Raponi, M. Caiazza, 2024, Journal of cardiovascular development and disease.