G. Marangi

M. Sabatelli, A. Conte, M. Zollino, 2011, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

A new single‐nucleotide deletion of PMP22 in an HNPP family without recurrent palsies

P. Tonali, M. Sabatelli, A. Conte, 2008, Muscle & nerve.

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Sonja W. Scholz, Hannah A. Pliner, Janel O. Johnson, 2021, JAMA neurology.

P525L FUS mutation is consistently associated with a severe form of juvenile Amyotrophic Lateral Sclerosis

S. Servidei, M. Sabatelli, A. Conte, 2012, Neuromuscular Disorders.

D11Y SOD1 mutation and benign ALS: A consistent genotype-phenotype correlation

M. Sabatelli, A. Conte, M. Zollino, 2011, Journal of the Neurological Sciences.

Founder effect hypothesis of D11Y SOD1 mutation in Italian amyotrophic lateral sclerosis patients

J. Mandrioli, M. Sabatelli, A. Conte, 2012, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrum

G. Tasca, P. Mandich, B. Udd, 2020, European journal of neurology.

SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis

P. Tonali, M. Dileone, M. Sabatelli, 2009, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation

P. Rossini, G. Neri, M. Sabatelli, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

Duplication of the Rubinstein–Taybi region on 16p13.3 is associated with a distinctive phenotype

G. Neri, V. Leuzzi, D. Orteschi, 2008, American journal of medical genetics. Part A.

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

E. Mercuri, G. Neri, P. Chiurazzi, 2012, Nature Genetics.

Proposal of a clinical score for the molecular test for Pitt–Hopkins syndrome

G. Vasco, R. Tenconi, G. Scarano, 2012, American journal of medical genetics. Part A.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene in and for Therapeutic

Timothy A. Miller, Denis C. Bauer, Shankaracharya, 2018 .

Pitt–Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge

M. Zollino, G. Marangi, 2015, Journal of Pediatric Genetics.

Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.

E. Zackai, M. Harr, B. Keena, 2017, European journal of medical genetics.

Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome

G. Neri, F. Gurrieri, V. Leuzzi, 2011, European Journal of Human Genetics.

A novel truncating variant within exon 7 of KAT6B associated with features of both Say–Barber–Bieseker–Young–Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B‐related disorders

M. D. Di Giacomo, D. Orteschi, M. Zollino, 2018, American journal of medical genetics. Part A.

International meeting on Wolf‐Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay

A. Battaglia, E. López-Granados, J. Carey, 2019, American journal of medical genetics. Part A.

A novel L67P SOD1 mutation in an Italian ALS patient

M. Sabatelli, A. Conte, M. Zollino, 2011, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

SYT1-associated neurodevelopmental disorder: a case series

Ingo Borggraefe, Giuseppe Marangi, Yunyun Jiang, 2018, Brain : a journal of neurology.

On the nosology and pathogenesis of Wolf–Hirschhorn syndrome: Genotype–phenotype correlation analysis of 80 patients and literature review

G. Neri, L. Mazzanti, M. Zollino, 2008, American journal of medical genetics. Part C, Seminars in medical genetics.

Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples

E. Mercuri, D. Orteschi, M. Zollino, 2017, Front. Neurosci..

Genetic causes of amyotrophic lateral sclerosis: New genetic analysis methodologies entailing new opportunities and challenges

B. Traynor, G. Marangi, 2015, Brain Research.

Utility and Challenges of Next Generation Sequencing in Pediatric Disorders

M. Zollino, G. Marangi, M. Longoni, 2014, Current Pediatrics Reports.

G. Neri, V. Leuzzi, D. Orteschi, 2012, European Journal of Human Genetics.

Origin of celiac disease: how old are predisposing haplotypes?

A. Gasbarrini, L. Laterza, F. Scaldaferri, 2012, World journal of gastroenterology.

Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement

Carol J. Saunders, R. Hennekam, J. Clayton-Smith, 2019, Clinical genetics.

High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines

M. Sabatelli, A. Conte, M. Zollino, 2020, Genes.

Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis.

P. Rossini, M. Mirabella, M. Sabatelli, 2013, Human molecular genetics.

Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis.

F. Eusebi, C. Limatola, A. Al-Chalabi, 2009, Human molecular genetics.

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

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome

E. Mercuri, A. Slavotinek, Emanuela Ponzi, 2015, European Journal of Human Genetics.

A genome-wide association study of myasthenia gravis.

Michael Benatar, Sonja W. Scholz, Adriano Chiò, 2015, JAMA neurology.

M. Larsen, C. Fagerberg, L. Krogh, 2019, European journal of medical genetics.

A case of Beckwith–Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus

G. Neri, A. Riccio, D. Orteschi, 2009, Journal of Medical Genetics.

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.

CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype.

A. Pinto, Aurora Currò, A. Renieri, 2020, European journal of medical genetics.

Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis.

D. Colavito, E. Del Giudice, M. Sabatelli, 2021, Human molecular genetics.

Mother to son amplification of a small subtelomeric deletion: A new mechanism of familial recurrence in microdeletion syndromes

F. Faravelli, F. Bricarelli, M. Di Rocco, 2007, American journal of medical genetics. Part A.

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.

J. Gécz, W. Chung, H. Hakonarson, 2021, American journal of human genetics.

G. Tasca, M. Sabatelli, A. Conte, 2016, Brain pathology.

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.

Matrin 3 variants are frequent in Italian ALS patients

G. Tasca, M. Sabatelli, A. Conte, 2017, Neurobiology of Aging.

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Lorne Zinman, Adriano Chiò, Richard W. Orrell, 2014, Nature Neuroscience.

Deregulated expression of the imprinted DLK1-DIO3 region in glioblastoma stemlike cells: tumor suppressor role of lncRNA MEG3

A. Giuliani, L. Ricci-Vitiani, R. Pallini, 2020, Neuro-oncology.

Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis

D. Marchione, E. Del Giudice, A. Leon, 2023, European journal of neurology.

SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant

M. Sabatelli, A. Conte, M. Zollino, 2011, Neurobiology of Aging.

Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS

L. Pozzi, M. Sabatelli, A. Conte, 2019, Neurobiology of Aging.

Late‐onset Lennox–Gastaut syndrome in a patient with 15q11.2–q13.1 duplication

V. Sorrentino, M. Zollino, S. Buoni, 2009, American journal of medical genetics. Part A.

SYT1-associated neurodevelopmental disorder: a case series

R. Gibbs, S. Boyd, I. Borggraefe, 2018, Brain : a journal of neurology.

Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis

V. Di Lazzaro, P. Tonali, M. Dileone, 2009, Neurological Sciences.

Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers

K. Peris, M. Genuardi, F. Scaldaferri, 2019, Acta dermato-venereologica.

ATXN2 polyQ intermediate repeats are a modifier of ALS survival

A. Chiò, G. Mora, A. Calvo, 2015, Neurology.

SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.

R. Redon, V. Narayanan, A. Toutain, 2022, Human molecular 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.

Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8

D. Orteschi, M. Zollino, D. Battaglia, 2023, Genes.

TBK1 is associated with ALS and ALS-FTD in Sardinian patients

Hannah A. Pliner, A. Mulas, F. Marrosu, 2016, Neurobiology of Aging.

Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant.

M. Sabatelli, A. Conte, D. Orteschi, 2021, Stem cell research.

Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability: A co‐morbidity model with additional copy number variations in a large family

M. Zollino, G. Marangi, G. Mancano, 2013, American journal of medical genetics. Part A.

Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring–Opitz syndromes

J. Opitz, J. Dopazo, A. Alemán, 2016, American journal of medical genetics. Part A.

M. Larsen, C. Fagerberg, L. Krogh, 2019, European journal of medical genetics.

Genome-Wide Analyses Identify Kif5A As A Novel Als Gene

Hannah A. Pliner, F. Faghri, S. Topp, 2021 .

D11Y SOD1 mutation and benign ALS: A consistent genotype-phenotype correlation

A. Conte, M. Luigetti, G. Bisogni, 2011, Journal of the Neurological Sciences.

Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization

M. Genuardi, G. Salomons, S. Costa, 2020, Clinical genetics.