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Quadruple-Negative GIST Is a Sentinel for Unrecognized Neurofibromatosis Type 1 Syndrome

Clinical cancer research, 2017-01, Vol.23 (1), p.273-282

2017

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Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype

Journal of human genetics, 2020-10, Vol.65 (10), p.855-864

2020

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Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

eLife, 2015-05, Vol.4, p.e06602-e06602

2015

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Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene

International journal of molecular sciences, 2022-10, Vol.23 (21), p.13095

2022

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Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

Frontiers in neurology, 2018-12, Vol.9, p.981-981

2018

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A clinical scoring system for congenital contractural arachnodactyly

Genetics in medicine, 2020-01, Vol.22 (1), p.124-131

2020

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Characterization of intellectual disability and autism comorbidity through gene panel sequencing

Human mutation, 2020-06, Vol.41 (6), p.1183-1183

2020

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Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation

Molecular genetics & genomic medicine, 2020-06, Vol.8 (6), p.e1203-n/a

2020

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Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants

PloS one, 2012-07, Vol.7 (7), p.e41516

2012

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Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?

American journal of medical genetics. Part A, 2011-11, Vol.155 (11), p.2860-2864

2011

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Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations

Orphanet journal of rare diseases, 2011-06, Vol.6 (1), p.40-40, Article 40

2011

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TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo‐sensitive trichothiodystrophy

Human mutation, 2022-12, Vol.43 (12), p.2222-2233

2022

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“Spot diagnosis” or “spot the diagnosis”?

Journal of the neurological sciences, 2017-08, Vol.379, p.335-336

2017

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Characterization of intellectual disability and autism comorbidity through gene panel sequencing

Human mutation, 2019-09, Vol.40 (9), p.1346-1363

2019

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The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial

Investigative ophthalmology & visual science, 2017-02, Vol.58 (2), p.821-832

2017

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Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants

European journal of human genetics : EJHG, 2023-02, Vol.31 (2), p.202-215

2023

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CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

Genome Biology, 2024-02, Vol.25 (1), p.53-46, Article 53

2024

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Natural history of KBG syndrome in a large European cohort

Human molecular genetics, 2022-12, Vol.31 (24), p.4131-4142

2022

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Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective

Disability and rehabilitation, 2022-08, Vol.44 (18), p.4966-4973

2022

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Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

European journal of human genetics : EJHG, 2017-06, Vol.25 (6), p.694-701

2017

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Quadruple-Negative GIST Is a Sentinel for Unrecognized Neurofibromatosis Type 1 Syndrome

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

A clinical scoring system for congenital contractural arachnodactyly

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation

Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants

Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?

Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations

TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo‐sensitive trichothiodystrophy

“Spot diagnosis” or “spot the diagnosis”?

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

Natural history of KBG syndrome in a large European cohort

Natural history of adults with KBG syndrome: A physician-reported experience

Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective

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

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

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