A. Selicorni

发表

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients

G. Scarano, A. Ferlini, B. Mandriani, 2014, Human mutation.

Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder

T. Mazza, S. Castellana, G. Merla, 2020, Journal of Medical Genetics.

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation.

Dagmar Wieczorek, Roberto Giorda, Marcella Zollino, 2002, American journal of human genetics.

Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade

E. Mercuri, M. Tartaglia, C. Leoni, 2009, 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.

Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery

G. Scuvera, S. Avignone, F. Triulzi, 2020, Frontiers in Cell and Developmental Biology.

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals

G. Mortier, R. Tenconi, S. Mrusek, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation

E. Zackai, Soma Das, A. Toutain, 2004, Human mutation.

Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability

A. Selicorni, M. Bedeschi, P. Riva, 2015, 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.

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

M. Loh, A. Carè, H. Cavé, 2014, Human molecular genetics.

Audiological findings in Williams syndrome: A study of 69 patients

A. Cesarani, A. Selicorni, C. Gagliardi, 2012, American journal of medical genetics. Part A.

Analysis of congenital heart defects in 87 consecutive patients with Brachmann‐de Lange syndrome

P. Salice, S. Ghiglia, A. Colli, 2009, American journal of medical genetics. Part A.

Otitis media with effusion and hearing loss in children with Cornelia de Lange syndrome

L. Pignataro, A. Selicorni, D. Milani, 2008, American journal of medical genetics. Part A.

ANKRD11 variants: KBG syndrome and beyond

E. Zackai, H. Hakonarson, D. Horn, 2021, Clinical genetics.

Phenotype in SMC 1 A Phenotypes and Genotypes in Individuals with SMC 1 A Mutations

Chris, Valérie, Saskia M. J. Hopman, 2018 .

Phenotypes and genotypes in individuals with SMC1A variants

Saskia M. J. Hopman, I. Krantz, D. Horn, 2017, American journal of medical genetics. Part A.

Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation

G. Scarano, A. Bentivegna, A. Selicorni, 2007, Clinical genetics.

Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?

A. Verloes, A. Delahaye-Duriez, A. Selicorni, 2010, Clinical genetics.

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

R. Tenconi, G. Zampino, A. Selicorni, 2013, BMC Medical Genetics.

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

R. Tenconi, G. Scarano, O. Haas, 2012, European Journal of Human Genetics.

Visual function in Noonan and LEOPARD syndrome.

E. Mercuri, M. Tartaglia, C. Leoni, 2008, Neuropediatrics.

Seizure and EEG Patterns in Angelman's Syndrome

G. Lanzi, F. Lalatta, A. Selicorni, 1995, Journal of child neurology.

Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature.

A. Selicorni, S. Maitz, R. Caselli, 2011, European journal of medical genetics.

Drooling outcome measures in paediatric disability: a systematic review

E. Sforza, C. Leoni, A. Selicorni, 2022, European Journal of Pediatrics.

Prevalence of diabetes and pre‐diabetes in a cohort of Italian young adults with Williams syndrome

G. Scuvera, B. Masserini, P. Beck‐Peccoz, 2013, American journal of medical genetics. Part A.

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

S. Seal, N. Rahman, D. Baralle, 2014, Nature genetics.

Burden of care in families of patients with rare genetic diseases: analysis of a large Italian cohort.

A. Selicorni, F. Meroni, P. Cianci, 2021, European journal of medical genetics.

Clinical and molecular characterization of Italian patients affected by Cohen syndrome

R. Tenconi, A. Federico, F. Brancati, 2007, Journal of Human Genetics.

A novel HIST1HE pathogenic variant in a girl with macrocephaly and intellectual disability: a new case and review of literature

A. Selicorni, M. Iascone, L. Pezzoli, 2020, Clinical dysmorphology.

First evidence of a paediatric patient with Cornelia de Lange syndrome with acute lymphoblastic leukaemia

A. Selicorni, V. Massa, V. Bystrý, 2019, Journal of Clinical Pathology.

Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?

A. Selicorni, C. Gervasini, A. Biondi, 2016, American journal of medical genetics. Part A.

Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome

A. Selicorni, V. Massa, L. Avagliano, 2017, Orphanet Journal of Rare Diseases.

A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome

P. Rebora, A. Selicorni, C. Gervasini, 2016, American journal of medical genetics. Part C, Seminars in medical genetics.

Aortic dilation in Sotos syndrome: An underestimated feature?

A. Colli, A. Selicorni, D. Milani, 2020, American journal of medical genetics. Part A.

Celiac disease in autism spectrum disorder: data from an Italian child cohort

M. Molteni, A. Selicorni, B. Parma, 2022, Italian Journal of Pediatrics.

Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.

A. Selicorni, L. Larizza, J. Azzollini, 2013, European journal of medical genetics.

Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16

R. Tenconi, G. Neri, S. Savasta, 2007, Human Genetics.

Osteopathia striata with cranial sclerosis, Wilms’ tumor and the WTX gene

P. Radice, E. Cattaneo, A. Selicorni, 2014 .

Refining the Phenotype of Recurrent Rearrangements of Chromosome 16

D. Conconi, E. Sala, L. Dalprà, 2019, International journal of molecular sciences.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

N. Rahman, D. Baralle, C. Mercer, 2018, Wellcome open research.

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome

C. Pantaleoni, F. Natacci, E. Cattaneo, 2022, International journal of molecular sciences.

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

P. Gasparini, G. Ferrero, L. Salviati, 2015, Human Genetics.

Clinical and molecular characterization of Rubinstein‐Taybi syndrome patients carrying distinct novel mutations of the EP300 gene

G. Scarano, L. Caffi, A. Selicorni, 2015, Clinical genetics.

Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients

G. Scarano, N. Elçioglu, A. Ficcadenti, 2015, Clinical genetics.

Drooling outcome measures in paediatric disability: a systematic review

E. Sforza, C. Leoni, A. Selicorni, 2022, European Journal of Pediatrics.

Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.

G. Neri, G. Capovilla, A. Selicorni, 2003, American journal of human genetics.

Gastroesophageal reflux and Cornelia de Lange syndrome: Typical and atypical symptoms

A. Selicorni, D. Milani, A. Valadè, 2003, American journal of medical genetics. Part A.

Sleep disorders in Cornelia de Lange syndrome

A. Vignoli, A. Selicorni, C. Gervasini, 2016, American journal of medical genetics. Part C, Seminars in medical genetics.

Craniodigital Syndrome of Scott: Clinical and Neuroradiological Features of a New Case

D. Riva, A. Erbetta, C. Pantaleoni, 2007, Journal of child neurology.

Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders

F. Lalatta, A. Selicorni, M. Bedeschi, 2018, Epigenetics.

The behavioural phenotype of Cornelia de Lange Syndrome: a study of 56 individuals.

M. Molteni, A. Selicorni, L. Villa, 2007, Journal of intellectual disability research : JIDR.

Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes

G. Ferrero, A. Selicorni, A. Mussa, 2019, Front. Genet..

Renal tract ultrasonography and calcium homeostasis in Williams-Beuren syndrome

A. Selicorni, D. Milani, E. Fossali, 2002, Pediatric Nephrology.

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice

J. Gécz, A. Bayat, J. Wynn, 2022, Nature Communications.

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

G. Scarano, O. Zuffardi, A. Selicorni, 2010, European Journal of Human Genetics.

Fetal growth patterns in Beckwith–Wiedemann syndrome

M. Cubellis, G. Ferrero, A. Selicorni, 2016, Clinical genetics.

Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome.

R. Brusati, R. Montirosso, G. Zampino, 2016, European journal of medical genetics.

Prevalence of beckwith–wiedemann syndrome in North West of Italy

L. Richiardi, G. Ferrero, A. Selicorni, 2013, American journal of medical genetics. Part A.

Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort

A. Selicorni, C. Gervasini, C. Fossati, 2018, American journal of medical genetics. Part A.

Genotype-phenotype correlation in two sets of monozygotic twins with Williams syndrome.

L. Dalprà, A. Selicorni, L. Larizza, 1997, American journal of medical genetics.

Peripheral blood cells from children with RASopathies show enhanced spontaneous colonies growth in vitro and hyperactive RAS signaling

A. Selicorni, A. Biondi, G. Gaipa, 2015, Blood Cancer Journal.

Haploinsufficiency of AKT3 gene causing microcephaly and psychomotor delay in a patient with 1q43q44 microdeletion

P. Modena, A. Selicorni, A. Cavallini, 2020, Clinical dysmorphology.

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

K. Devriendt, G. Scarano, A. Toutain, 2018, Genetics in Medicine.

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

K. Devriendt, G. Scarano, A. Toutain, 2016, Genetics in Medicine.

Modeling Cornelia de Lange syndrome in vitro and in vivo reveals a role for cohesin complex in neuronal survival and differentiation

M. Spreafico, A. Selicorni, V. Massa, 2018, Human molecular genetics.

Cornelia de Lange Syndrome: NIPBL haploinsufficiency downregulates canonical Wnt pathway in zebrafish embryos and patients fibroblasts

A. Selicorni, G. Messina, L. Bettini, 2013, Cell Death and Disease.

Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation

F. Dall’ara, G. Michelini, P. Vizziello, 2021, Journal of Autism and Developmental Disorders.

Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange‐overlapping phenotype

D. Lazarević, P. Krawitz, E. Watrin, 2016, Clinical genetics.

Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance

I. Krantz, M. Kliewer, D. Fitzpatrick, 2007, American journal of medical genetics. Part A.

Expanding the clinical spectrum of the ‘HDAC8‐phenotype’ – implications for molecular diagnostics, counseling and risk prediction

T. Strom, D. Wieczorek, E. Watrin, 2016, Clinical genetics.

Another patient with MECP2 mutation without classic Rett syndrome phenotype.

D. Riva, C. Pantaleoni, A. Selicorni, 2005, Pediatric neurology.

G. Michelini, P. Vizziello, A. Selicorni, 2022, Research in developmental disabilities.

Otorhinolaringologic manifestation of Smith-Magenis syndrome.

M. Di Cicco, A. Selicorni, S. Guerneri, 2001, International journal of pediatric otorhinolaryngology.

Collagenopathy with a phenotype resembling silver–russell syndrome phenotype

C. Giussani, A. Selicorni, A. Bozzetti, 2013, American journal of medical genetics. Part A.

Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum

A. Selicorni, V. Massa, M. Mariani, 2021, Genes.

Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum

L. Garavelli, A. Selicorni, D. Melis, 2013, American journal of medical genetics. Part A.

Dominantly acting variants in ARF3 have disruptive consequences on Golgi integrity and cause microcephaly recapitulated in zebrafish

B. Dallapiccola, A. Bruselles, M. Tartaglia, 2021 .

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes

T. Eggermann, C. Izzi, A. Selicorni, 2019, Genetics research.

Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability

J. Vermeesch, P. Rubegni, M. Fimiani, 2015, Brain and Development.

Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.

A. Battaglia, R. Tenconi, G. Neri, 2000, American journal of medical genetics.

Impairment of Retinoic Acid Signaling in Cornelia de Lange Syndrome Fibroblasts.

A. Selicorni, V. Massa, A. Biondi, 2017, Birth defects research.

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth

G. Scarano, G. Neri, C. Pantaleoni, 2005, American journal of medical genetics. Part A.

14q32.3-qter trisomic segment: a case report and literature review

D. Conconi, L. Dalprà, A. Selicorni, 2016, Molecular Cytogenetics.

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome

A. Selicorni, L. Larizza, P. Finelli, 2015, Molecular Cytogenetics.

Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish

M. Ahmadian, B. Dallapiccola, A. Bruselles, 2022, Nature Communications.

Immunogenicity, safety and tolerability of monovalent 2009 pandemic influenza A/H1N1 MF59-adjuvanted vaccine in children and adolescents with Williams or Cornelia De Lange syndrome

A. Selicorni, S. Esposito, N. Principi, 2011, Human vaccines.

Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.

L. Armengol, B. Puisac, M. Teresa-Rodrigo, 2014, European journal of medical genetics.

The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study

F. Dall’ara, G. Michelini, P. Vizziello, 2022, American journal of medical genetics. Part A.

Hodgkin lymphoma in a patient with mosaic trisomy 18: First clinical observation

A. Selicorni, A. Biondi, G. Cazzaniga, 2016, American journal of medical genetics. Part A.

Patients with DeSanto–Shinawi syndrome: Further extension of phenotype from Italy

S. Banfi, A. Selicorni, S. Maitz, 2022, American journal of medical genetics. Part A.

Pure monosomy and pure trisomy of 13q21.2–31.1 consequent to a familial insertional translocation: Exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1)

Sarah B. Emery, A. Selicorni, G. Simoni, 2009, American journal of medical genetics. Part A.

Audiological follow-up of 24 patients affected by Williams syndrome.

A. Cesarani, A. Selicorni, C. Gagliardi, 2013, European journal of medical genetics.

Audiological and vestibular findings in the Kabuki syndrome

A. Cesarani, A. Selicorni, F. Di Berardino, 2009, American journal of medical genetics. Part A.

A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1

A. Selicorni, A. Biondi, C. Carta, 2013, American journal of medical genetics. Part A.

FISH analysis in Prader-Willi and Angelman syndrome patients.

A. Selicorni, G. Grugni, D. Giardino, 1995, American journal of medical genetics.

CHLAMYDIA INFECTION

A. L. Wong, J. Belmont, F. Lammert, 2001 .

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.

X-linked mental retardation with marfanoid habitus: first report of four Italian patients.

G. Neri, F. Gurrieri, F. Lalatta, 1991, American journal of medical genetics.

Hemostatic Abnormalities in Noonan Syndrome

I. Martinelli, P. Bucciarelli, S. Passamonti, 2014, Pediatrics.

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants

R. Tenconi, V. Saletti, C. Leoni, 2022, Journal of Medical Genetics.

International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia

G. Mortier, J. Campbell, M. Sessa, 2021, Nature Reviews Endocrinology.

Germline mosaicism in cornelia de lange syndrome: Dilemmas and risk figures

A. Selicorni, S. Maitz, C. Gervasini, 2013, American journal of medical genetics. Part A.

Variability of the Brachmann-de Lange syndrome.

G. Zampino, P. Mastroiacovo, F. Lalatta, 1993, American journal of medical genetics.

72nd Congress of the Italian Society of Pediatrics

E. Kossoff, P. Striano, F. Callea, 2017, Italian Journal of Pediatrics.

Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome Phenotypes Associated with 11p Duplication in a Single Family

M. Cubellis, A. Selicorni, B. Zavan, 2010, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant.

C. Romano, A. Coppola, N. Brunetti‐Pierri, 2020, European journal of medical genetics.

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Joseph P. McCleery, R. Hennekam, Z. Tümer, 2018, Nature Reviews Genetics.

Molecular characterization of FRAXE-positive subjects with mental impairement in two unrelated Italian families.

F. Natacci, L. Dalprà, A. Selicorni, 1998, American journal of medical genetics.

Drooling outcome measures in paediatric disability: a systematic review

E. Sforza, C. Leoni, A. Selicorni, 2022, European Journal of Pediatrics.

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

B. Puisac, M. Arnedo, P. Gómez-Puertas, 2021, Scientific Reports.

Two cases of hepatic adenomas in patients with wolf‐hirschhorn syndrome: A new rare complication?

A. Selicorni, S. Maitz, C. Fossati, 2013, American journal of medical genetics. Part A.

Videoendoscopic rehabilitation of iatrogenous Stensen-duct-acquired atresia in a patient with ring chromosome 21 syndrome and drooling.

L. Pignataro, A. Selicorni, S. Esposito, 2008, Journal of pediatric surgery.

A. Selicorni, B. Parma, S. Salvatore, 2019, Nutrients.

Mutations in the DNA methyltransferase gene, DNMT3A, cause an overgrowth syndrome with intellectual disability

Katrina Tatton-Brown, Nazneen Rahman, Elise Ruark, 2014, Nature Genetics.

Seizures and EEG features in 74 patients with genetic‐dysmorphic syndromes

D. Riva, S. Franceschetti, C. Pantaleoni, 2014, American journal of medical genetics. Part A.

Choroidal abnormalities detected by near-infrared reflectance imaging as a new diagnostic criterion for neurofibromatosis 1.

G. Melloni, F. Natacci, A. Selicorni, 2012, Ophthalmology.

Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.

C. Romano, F. Calì, M. Bonsignore, 2017, European journal of medical genetics.

Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients

S. Julia, J. Rivière, A. Verloes, 2018, Journal of Medical Genetics.

7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages

G. Pruneri, P. Germain, G. Merla, 2014, Nature Genetics.

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

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

De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype

W. Chung, E. Roeder, C. Saunders, 2020, American journal of medical genetics. Part A.

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients

G. Neri, A. Bentivegna, A. Selicorni, 2006, BMC Medical Genetics.

Additional case of Tsukahara's syndrome or new syndrome: Further delineation of the association of microcephaly and radio‐ulnar synostosis

A. Selicorni, D. Milani, A. Ferrarini, 2005, American journal of medical genetics. Part A.

Prenatal profile of Pallister‐Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis

I. Krantz, L. Conlin, A. Wilkens, 2018, American journal of medical genetics. Part A.

De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes

J. Ganesh, I. Krantz, H. Hakonarson, 2015, Human mutation.

De Novo Heterozygous Mutations in SMC 3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes Marı́a

J. Ganesh, I. Krantz, H. Hakonarson, 2015 .

Cytogenetic mapping of a novel locus for type II Waardenburg syndrome

A. Pizzuti, A. Ratti, A. Selicorni, 2001, Human Genetics.

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations

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

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.

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

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

Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome

Claudio Carta, Rosanna Weksberg, Bruno Dallapiccola, 2007, Human mutation.

Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion

R. Borgatti, R. Giorda, A. Selicorni, 2003, 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 .

Cancer predisposition in children with Kabuki syndrome

A. Ferrari, A. Selicorni, M. Casanova, 2011, American journal of medical genetics. Part A.

In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS)

C. Simone, S. Di Tommaso, A. Selicorni, 2018, neurogenetics.

Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome.

B. Dallapiccola, G. Novelli, E. Bellone, 1993, American journal of medical genetics.

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Joseph P. McCleery, R. Hennekam, Z. Tümer, 2018, Nature Reviews Genetics.

(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome

M. Cubellis, G. Ferrero, A. Selicorni, 2015, European Journal of Human Genetics.

Nomenclature and definition in asymmetric regional body overgrowth

T. Druley, R. Hennekam, L. Biesecker, 2017, American journal of medical genetics. Part A.

Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome

C. Augello, F. Lalatta, A. Selicorni, 2013, Epigenetics.

Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour.

M. Negrini, C. Schwienbacher, G. Ferrero, 2007, Human molecular genetics.

A fluorescent method for detecting low-grade 11patUPD mosaicism in Beckwith-Wiedemann syndrome.

A. Selicorni, L. Larizza, S. Russo, 2003, Molecular and cellular probes.

Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases

M. Maghnie, G. Scuvera, P. Modena, 2021, Genes.

“Gestalt diagnosis” for children with suspected genetic syndromes

A. Selicorni, Angelo Selicorni, Paola Cianci, 2015, Italian Journal of Pediatrics.

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome.

R. Borgatti, R. Giorda, O. Zuffardi, 2001, American journal of human genetics.

Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression.

F. Natacci, A. Selicorni, M. Bedeschi, 2000, Clinical dysmorphology.

Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes

G. Zampino, A. Selicorni, D. Milani, 2008, Clinical genetics.

Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study

M. Irving, D. Thompson, K. White, 2022, Orphanet Journal of Rare Diseases.

Identification of the gene for oral-facial-digital type I syndrome.

A. Ballabio, R. Winter, A. Woolf, 2001, American journal of human genetics.

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

A. Musio, P. Vezzoni, A. Selicorni, 2006, Nature Genetics.

Clinical utility gene card for: Cornelia de Lange syndrome

I. Krantz, R. Hennekam, D. Fitzpatrick, 2014, European Journal of Human Genetics.

Dual genetic diagnoses: neurofibromatosis type 1 and KBG syndrome.

A. Selicorni, S. Maitz, M. Iascone, 2020, Clinical dysmorphology.

Cornelia de Lange syndrome: Extending the physical and psychological phenotype

R. Hennekam, D. Fitzpatrick, R. Hennekam, 2010, American journal of medical genetics. Part A.

Daily life changes and adaptations investigated in 154 families with a child suffering from a rare disability at a public centre for rare diseases in Northern Italy

M. Gallucci, P. Vizziello, F. Lalatta, 2016, Italian Journal of Pediatrics.

Clinical follow‐up of young adults affected by Williams syndrome: Experience of 45 Italian patients

A. Colli, F. Natacci, F. Lalatta, 2011, American journal of medical genetics. Part A.

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

D. Baralle, J. Mill, H. Cross, 2018, bioRxiv.

Two new cases of Barraquer–Simons syndrome

A. Selicorni, D. Milani, A. Ferrarini, 2004, American journal of medical genetics. Part A.

Chromatinopathies: A focus on Cornelia de Lange syndrome

F. Kaiser, A. Selicorni, V. Massa, 2019, Clinical genetics.

A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation

Reinhard Ullmann, Cheng Fang, Kirsten Harvey, 2009, Human mutation.

High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints.

R. Tenconi, E. Lucci-Cordisco, G. Neri, 2007, Genomics.

Increased nocturnal heart rate and wave reflection are early markers of cardiovascular disease in Williams–Beuren syndrome children

G. Mancia, C. Giannattasio, A. Selicorni, 2015, Journal of hypertension.

Visual processing in Noonan syndrome: Dorsal and ventral stream sensitivity

J. Atkinson, E. Mercuri, A. Guzzetta, 2011, American journal of medical genetics. Part A.

The phenotype of recurrent 10q22q23 deletions and duplications

R. Pfundt, P. Stankiewicz, Ankita Patel, 2011, European Journal of Human Genetics.

Rings and Bricks: Expression of Cohesin Components is Dynamic during Development and Adult Life

A. Selicorni, V. Massa, A. Biondi, 2018, International journal of molecular sciences.

Complex nutritional deficiencies in a large cohort of Italian patients with Cornelia de Lange syndrome spectrum.

A. Selicorni, S. Maitz, C. Fossati, 2020, American journal of medical genetics. Part A.

Audiological findings, genotype and clinical severity score in Cornelia de Lange syndrome.

A. Selicorni, D. Milani, S. Esposito, 2014, International journal of pediatric otorhinolaryngology.

Right pulmonary agenesis with ipsilateral microtia: a new laterality association or part of the oculoauriculovertebral spectrum?

A. Selicorni, D. Milani, 2002, Prenatal diagnosis.

Pulmonary function in Williams–Beuren syndrome: Spirometric data of 22 Italian patients

A. Selicorni, D. Milani, M. Agosti, 2020, American journal of medical genetics. Part A.

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

Meghan C Towne, Carol J. Saunders, B. V. van Bon, 2021, American journal of human genetics.

Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management

Matteo Bellini, A. Selicorni, M. Bedeschi, 2021, Journal of cardiovascular development and disease.

Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome

A. Selicorni, D. Milani, L. Larizza, 2009, Chromosome Research.

Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications

P. Striano, M. Greco, S. Savasta, 2018, Acta neurologica Scandinavica.

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome

S. Lalani, L. Servais, F. Brancati, 2010, European Journal of Human Genetics.

Trisomy 10qter confirmed by in situ hybridisation.

G. Floridia, O. Zuffardi, F. Lalatta, 1993, Journal of medical genetics.

Distinct facial dysmorphism , pre and postnatal growth retardation , microcephaly , seizures , mental retardation and hypotonia

A. Selicorni, M. Zollino, A. Ferrarini, 2004 .

Nissen fundoplication in Cornelia de Lange syndrome spectrum: Who are the potential candidates?

G. Zampino, A. Selicorni, C. Fossati, 2020, American journal of medical genetics. Part A.

Brain Magnetic Resonance Imaging in Wolf-Hirschhorn Syndrome

A. Righini, E. Bianchini, C. Parazzini, 2007, Neuropediatrics.

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

C. Romano, E. Eichler, H. Firth, 2020, Genetics in Medicine.

A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf–Hirschhorn syndrome

J. Opitz, M. Rocchi, G. Neri, 2004, European Journal of Human Genetics.

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

P. Gasparini, G. Ferrero, L. Salviati, 2015, Human Genetics.

The association of neural axis and craniovertebral junction anomalies with scoliosis in Rubinstein–Taybi syndrome

C. Giussani, A. Selicorni, M. Riva, 2012, Child's Nervous System.

A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies.

A. Selicorni, D. Milani, S. Maitz, 2010, European journal of medical genetics.

Costello syndrome: a cancer predisposing syndrome?

G. Uziel, L. D'Incerti, A. Selicorni, 2000, Clinical dysmorphology.

Coeliac disease and cornelia de Lange Syndrome: lack of association

A. Selicorni, D. Milani, F. Macchini, 2007, Acta paediatrica.

Cervical spine malformation in cornelia de lange syndrome: A report of three patients

C. Giussani, A. Selicorni, C. Gervasini, 2014, American Journal of Medical Genetics. Part A.

Celiac disease prevalence and predisposing‐HLA in a cohort of 93 Williams‐Beuren syndrome patients

G. Zampino, P. Modena, A. Selicorni, 2023 .

Williams-Beuren Syndrome and celiac disease: A real association?

A. Selicorni, S. Maitz, C. Fossati, 2020, European journal of medical genetics.

Barrett’s esophagus and Cornelia de Lange Syndrome

A. Selicorni, F. Macchini, G. Fava, 2010, Acta paediatrica.

Communication, cognitive development and behavior in children with Cornelia de Lange Syndrome (CdLS): Preliminary results

F. Dall’ara, P. Vizziello, A. Selicorni, 2014, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

A new report of Cornelia de Lange syndrome associated with split hand and feet

A. Selicorni, C. Gervasini, A. Biondi, 2012, American journal of medical genetics. Part A.

Anomalies of the kidney and urinary tract are common in de Lange syndrome

A. Selicorni, D. Milani, E. Fossali, 2005, American journal of medical genetics. Part A.

De novo Xq21.31-q21.32 duplication in intellectual disability: a new report.

P. Modena, A. Selicorni, M. Agosti, 2019, Clinical dysmorphology.

CyclinD1 Down‐Regulation and Increased Apoptosis Are Common Features of Cohesinopathies

A. Giordano, M. Mazzola, A. Selicorni, 2016, Journal of cellular physiology.

Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls

G. Limongelli, A. Selicorni, C. Gervasini, 2014, Epigenetics.

Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance Am J Med Genet Part A 143A:1287–1296

I. Krantz, M. Kliewer, A. Kline, 2008 .

The dark side of COVID‐19: The need of integrated medicine for children with special care needs

C. Leoni, G. Zampino, A. Selicorni, 2020, American journal of medical genetics. Part A.

De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.

K. Devriendt, J. Vermeesch, M. Bollen, 2020, American journal of human genetics.

A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype

A. Selicorni, D. Milani, D. Giardino, 2013, American journal of medical genetics. Part A.

Balance function in patients with Williams syndrome.

A. Cesarani, A. Selicorni, M. Bedeschi, 2013, Gait & posture.

Williams syndrome and mature B-Leukemia: A random association?

A. Selicorni, S. Maitz, A. Biondi, 2016, European journal of medical genetics.

Oligoyric microcephaly in a child with Williams syndrome

D. Riva, L. D'Incerti, C. Pantaleoni, 2002, American journal of medical genetics. Part A.

Sedation and general anesthesia for patients with Cornelia De Lange syndrome: A case series

A. Zanella, A. Pesenti, A. Selicorni, 2016, American journal of medical genetics. Part C, Seminars in medical genetics.

Caregiver Social Status and Health-Related Quality of Life in Neurologically Impaired Children on Home Enteral Nutrition

A. Selicorni, B. Parma, S. Salvatore, 2021, Nutrients.

Malpuech syndrome: a possible relationship with the Wolf-Hirschhorn/Pitt-Roger-Danks phenotype.

A. Selicorni, F. Faravelli, 2000, American journal of medical genetics.

Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome

G. Scarano, A. Barco, A. Selicorni, 2011, Journal of Medical Genetics.

Interstitial 11q deletion: genomic characterization and neuropsychiatric follow up from early infancy to adolescence and literature review

L. Dalprà, A. Selicorni, S. Redaelli, 2014, BMC Research Notes.

Interstitial 11 q deletion : genomic characterization and neuropsychiatric follow up from early infancy to adolescence and literature review

L. Dalprà, A. Selicorni, S. Redaelli, 2022 .

De Novo Duplication of Chromosome 13(q32-q34) in a Child With Developmental Delay

D. Riva, C. Pantaleoni, A. Selicorni, 2006, Journal of child neurology.

Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia.

A. Selicorni, S. Maitz, R. Caselli, 2012, European journal of medical genetics.

Limb anomalies following chorionic villus sampling: a registry based case-control study.

D. Cavalcanti, P. Mastroiacovo, A. Tozzi, 1992, American journal of medical genetics.

Thyroid anomalies in Williams syndrome: Investigation of 95 patients

A. Selicorni, D. Milani, A Selicorni, 2006, American journal of medical genetics. Part A.

Prenatal diagnosis of anatomical connections in conjoined twins by use of contrast magnetic resonance imaging

U. Nicolini, A. Selicorni, A. Kustermann, 1993, Prenatal diagnosis.

First Evidence of Vertical Paternal Transmission of Osteopatia Striata With Cranial Sclerosis

P. Radice, E. Cattaneo, A. Selicorni, 2013, American journal of medical genetics. Part A.

Snyder–Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype

A. Selicorni, S. Bova, Joy W. Norris, 2013, American journal of medical genetics. Part A.

Children with special health care needs attending emergency department in Italy: analysis of 3479 cases

A. Salvatoni, L. D’Antiga, F. Di Pietro, 2020, Italian Journal of Pediatrics.

Malattie rare

A. Selicorni, I. Bruno, 2021, Medico e Bambino.

Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.

G. Merla, L. Micale, C. Fusco, 2012, Molecular genetics and metabolism.

FOXI3 pathogenic variants cause one form of craniofacial microsomia

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

Spherophakia associated with molybdenum cofactor deficiency.

A. Selicorni, G. Minniti, V. Briscioli, 1997, American journal of medical genetics.

Embedding Public Engagement in Biomedical Research: a Pilot Experience in the Field of Rare Genetic Disorders

E. Vegni, A. Selicorni, L. Borghi, 2019, Journal of Developmental and Physical Disabilities.

Embedding Public Engagement in Biomedical Research: a Pilot Experience in the Field of Rare Genetic Disorders

E. Vegni, A. Selicorni, V. Massa, 2020 .

Genetic heterogeneity in tubular hypomagnesemia-hypokalemia with hypocalcuria (Gitelman's syndrome).

A. Bettinelli, A. Selicorni, P. Borella, 1995, Kidney international.

Partial duplication of the PARK2 gene in a child with developmental delay and her normal mother: A second report

L. Dalprà, A. Selicorni, C. Fossati, 2013, American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.

CHARGE‐like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases

E. Zackai, R. Ganetzky, A. Santani, 2014, American journal of medical genetics. Part A.

“CHARGE‐like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases” American Journal of Medical Genetics Part A. 164:2557‐2566, 2014

E. Zackai, R. Ganetzky, A. Santani, 2015, American journal of medical genetics. Part A.

Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients

A. Selicorni, S. Maitz, C. Gervasini, 2016, American journal of medical genetics. Part C, Seminars in medical genetics.

14q32.3-qter trisomic segment: a case report and literature review

D. Conconi, L. Dalprà, A. Selicorni, 2016, Molecular Cytogenetics.

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

B. V. van Bon, R. Pfundt, L. Armengol, 2023, The Journal of clinical investigation.

Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility

L. Micale, B. Pasini, C. Fusco, 2023, Human Genetics.

Kaufman oculocerebrofacial syndrome in a girl of 15 years.

S. Manoukian, F. Lalatta, A. Selicorni, 1995, American journal of medical genetics.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome

A. Selicorni, L. Larizza, P. Finelli, 2015, Molecular Cytogenetics.

Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome

R. Tenconi, J. Wierzba, A. Selicorni, 2021, Cell death discovery.

Lithium ameliorates Cornelia de Lange syndrome associated phenotypes in experimental models

R. Tenconi, J. Wierzba, A. Selicorni, 2020, bioRxiv.

Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndrome

A. Selicorni, D. Milani, S. Maitz, 2009, American journal of medical genetics. Part A.

Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum

A. Selicorni, L. Larizza, L. Calzari, 2023, Frontiers in genetics.

The Perceptions of Health Workers in the Relationship with Foreign Users in a Paediatric Health Service: The Role of the Linguistic and Cultural Mediator

A. Selicorni, Ilaria Biga, 2020, Child Care in Practice.

Real-world evidence in achondroplasia: considerations for a standardized data set

M. Maghnie, M. Sessa, M. Irving, 2023, Orphanet Journal of Rare Diseases.

Acute myeloid leukemia in Baraitser–Winter cerebrofrontofacial syndrome

A. Selicorni, G. Cazzaniga, G. Fazio, 2017, American journal of medical genetics. Part A.

Communication of Diagnosis: Pain and Grief in the Experience of Parents of Children with a Congenital Malformation

A. Selicorni, A. Ferrarini, E. Basile, 2008 .

Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23)

C. Romano, A. Coppola, N. Brunetti‐Pierri, 2019, The Cerebellum.

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Joseph P. McCleery, R. Hennekam, Z. Tümer, 2018, Nature Reviews Genetics.

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases.

N. Philip, S. Aymé, A. Selicorni, 1992, Clinical dysmorphology.

Novel mutations of ubiquitin protein ligase 3A gene in Italian patients with Angelman syndrome

A. Selicorni, M. Viri, A. Romeo, 2000, Human mutation.

Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports

C. Leoni, G. Zampino, M. Rigante, 2023, Italian Journal of Pediatrics.

Chronic Idiopathic Intestinal Pseudo-obstruction

A. L. Wong, J. Belmont, M. Dichgans, 2011 .

[Cutaneous amyloidoses].

A. L. Wong, J. Belmont, D. Roden, 1990, Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete.

A. Coppola, N. Brunetti‐Pierri, V. Capra, 2023, European Journal of Human Genetics.

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

K. Devriendt, G. Scarano, A. Toutain, 2016, Genetics in Medicine.

Functional characterization of GATA 3 mutations causing the hypoparathyroidism-deafness-renal ( HDR ) dysplasia syndrome : insight into mechanisms of DNA binding by the GATA 3 transcription factor

N. Freimer, T. Hudson, E. Silverman, 2007 .

[Chronic venous insufficiency].

V Wienert, G Hauer, A Lentner, 1996, Der Chirurg; Zeitschrift fur alle Gebiete der operativen Medizen.

"C" trigonocephaly syndrome: two additional cases.

A. Selicorni, G. Serra, G. Camera, 1990, American journal of medical genetics.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

N. Rahman, D. Baralle, C. Mercer, 2018, Wellcome open research.

Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disease and autosomal recessive junctional epidermolysis bullosa with pyloric atresia.

S. Manoukian, S. Rossetti, A. Selicorni, 1993, American journal of medical genetics.

Biliary atresia and Kabuki syndrome: another case with long-term follow-up.

A. Giunta, A. Selicorni, M. Bedeschi, 2001, American journal of medical genetics.

VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database

Michele Pinelli, Margherita Mutarelli, Francesco Musacchia, 2018, BMC Bioinformatics.

Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature

A. Selicorni, A. Torella, V. Nigro, 2022, American journal of medical genetics. Part A.

Long-term hormone replacement therapy in two patients with Kabuki syndrome and growth hormone deficiency.

O. Gabrielli, G. Coppa, I. Carloni, 2000, Minerva pediatrica.

Behavioral Profile in RASopathies

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

Omphalocele in a patient with Noonan syndrome.

L. Longoni, A. Selicorni, P. Cianci, 2012, Clinical Dysmorphology.

Growth Hormone Deficiency in Noonan Syndrome: Does it Influence Clinical Response to GH Therapy?

A. Selicorni, A. Ventura, M. C. Pellegrin, 2016 .

Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

M. Maghnie, G. Zampino, J. Jarrett, 2023, Orphanet Journal of Rare Diseases.

Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.

Matteo Bellini, A. Selicorni, D. Milani, 2023, Molecular genetics & genomic medicine.

Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange‐overlapping phenotype

D. Lazarević, P. Krawitz, E. Watrin, 2016, Clinical Genetics.

Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum

L. Garavelli, A. Selicorni, D. Melis, 2013, American journal of medical genetics. Part A.

Nicolaides–Baraitser syndrome: two new cases with autism spectrum disorder

A. Selicorni, V. Scandurra, L. Memo, 2011, Clinical dysmorphology.

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

K. Devriendt, G. Scarano, A. Toutain, 2016, Genetics in Medicine.

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

D. Baralle, J. Mill, H. Cross, 2018, bioRxiv.

The Williams syndrome: an Italian collaborative study.

G. Scarano, O. Gabrielli, G. Neri, 1996, Minerva pediatrica.