D. Greco

C. Romano, A. Righini, M. Fumagalli, 2020, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Stephanie E. Vallee, J. Rosenfeld, R. Tervo, 2013, American journal of medical genetics. Part A.

Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

M. Fichera, C. Romano, A. Fryer, 2014, American journal of medical genetics. Part A.

Cerebriform plantar hyperplasia: the major cutaneous feature of Proteus syndrome

C. Romano, D. Greco, M. Siragusa, 2008, International journal of dermatology.

Rubinstein–Taybi Syndrome with Epidermal Nevus: A Case Report

C. Romano, D. Greco, D. Batolo, 2001, Pediatric dermatology.

Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis.

R. Pettinato, M. Fichera, C. Romano, 2014, Gene.

Screening of subtelomeric rearrangements in autistic disorder: Identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation

R. Regan, F. Calì, G. Seidita, 2006, American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.

Saethre-Chotzen syndrome: a clinical, EEG and neuroradiological study

C. Romano, R. Ferri, M. Elia, 1996, Child's Nervous System.

Three new patients with dup(17)(p11.2p11.2) without autism

S. Buono, M. Fichera, C. Romano, 2008, Clinical genetics.

Caring and living with Prader-Willi syndrome in Italy: integrating children, adults and parents’ experiences through a multicentre narrative medicine research

A. Franzese, M. Marini, G. Grugni, 2020, BMJ Open.

The Pitt‐Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria

R. Pettinato, C. Romano, G. Vasco, 2011, American journal of medical genetics. Part A.

Reliability of intradermal vaccination against hepatitis B for accelerated prophylaxis.

S. Musumeci, S. Leonardi, A. Sciacca, 1990, The Pediatric infectious disease journal.

An intriguing case of LEOPARD syndrome.

C. Romano, D. Greco, D. Batolo, 1998 .

3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients

S. Buono, C. Romano, C. Pantaleoni, 2013, American journal of medical genetics. Part A.

Leigh syndrome and partial deficit of cytochrome c oxidase associated with epilepsia partialis continua

R. Ferri, M. Elia, S. Musumeci, 1996, Brain and Development.

Phenotypic and phoniatric findings in mosaic cri du chat syndrome.

C. Romano, G. Amato, D. Greco, 1991, American journal of medical genetics.

The Italian registry for patients with Prader–Willi syndrome

M. Maghnie, D. Taruscio, M. Salvatore, 2023, Orphanet Journal of Rare Diseases.

Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy

M. Fichera, C. Romano, F. Calì, 2019, Human Genetics.

Facial and Skeletal Malformations, Mental Retardation, Aganglionosis, and Neurogenic Muscle Weakness: A Variant of Niikawa-Kuroki Syndrome or a New Syndrome?

C. Romano, M. Elia, D. Greco, 2001, Journal of child neurology.

Piezogenic pedal papules during Prader–Willi syndrome

C. Romano, D. Greco, M. Siragusa, 2005, Journal of the European Academy of Dermatology and Venereology : JEADV.

Clinical spectrum and follow‐up in six individuals with Lamb–Shaffer syndrome (SOX5)

C. Romano, A. Brusco, G. Ferrero, 2020, American journal of medical genetics. Part A.

Comparison of three probiotics in the treatment of acute diarrhea in mentally retarded children.

R. Pettinato, C. Romano, P. Failla, 2000, Minerva pediatrica.

An Intriguing Case of LEOPARD Syndrome

C. Romano, D. Greco, D. Batolo, 1998, Pediatric dermatology.

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.

Self-Injury and Präder–Willi Syndrome

D. Greco, P. Occhipinti, Fabio Scannella, 2005 .

New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. Mutations in brief no. 176. Online.

M. Fichera, C. Romano, M. Fontès, 1998, Human Mutation.

Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families

S. Buono, F. Calì, A. Musumeci, 2023, Medicina.

Medial Telangiectatic Sacral Nevi (Types A and C) Associated with Williams Syndrome

P. Bosco, C. Romano, A. Ragusa, 2000, Dermatology.

Medial Telangiectatic Sacral Nevi and Mca/Mr Syndromes

C. Romano, A. Sindoni, P. Failla, 2003, Pediatric dermatology.

Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay.

A. Alberti, M. Fichera, C. Romano, 2005, Clinical chemistry.

M. Fichera, C. Romano, F. Calì, 2019, Human Genetics.

Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

M. Fichera, C. Romano, A. Fryer, 2014, American journal of medical genetics. Part A.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Rebecca C. Spillmann, R. Pfundt, J. Gécz, 2023, The Journal of clinical investigation.

Implications of a De Novo Variant in the SOX12 Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders

A. Musumeci, M. Vinci, M. Bottitta, 2024, Current issues in molecular biology.

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Stephanie E. Vallee, J. Rosenfeld, R. Tervo, 2013, American journal of medical genetics. Part A.

Impact of daytime routine modifications on people with severe intellectual disability amid COVID‐19 pandemic

M. Elia, S. Musumeci, L. Vetri, 2021, Perspectives in psychiatric care.