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Genotype–phenotype correlates in Joubert syndrome: A review

American journal of medical genetics. Part C, Seminars in medical genetics, 2022-03, Vol.190 (1), p.72-88

2022

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PSEN1 Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype

International journal of molecular sciences, 2021-04, Vol.22 (8), p.3870

2021

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Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome

Frontiers in genetics, 2019-07, Vol.10, p.650

2019

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Joubert syndrome and hydrocephalus: Further expanding the phenotypic spectrum of a pleiotropic ciliopathy

Developmental medicine and child neurology, 2024-07, Vol.66 (7), p.834-835

2024

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Advantages of Array Comparative Genomic Hybridization Using Buccal Swab DNA for Detecting Pallister-Killian Syndrome

Annals of Laboratory Medicine, 2019, 39(2), , pp.232-234

2019

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19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias

European journal of human genetics : EJHG, 2012-08, Vol.20 (8), p.852-856

2012

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Diagnostic Yield and Cost-Effectiveness of “Dynamic” Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy

Diagnostics (Basel), 2021-05, Vol.11 (6), p.948

2021

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Glycogen storage disease type V: a still under-recognized condition lacking definitive genotype-phenotype correlates

Pediatric research, 2024-07, Vol.96 (2), p.279-280

2024

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ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity

Journal of medical genetics, 2022-08, Vol.59 (8), p.781-784

2022

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Movement Disorders in Genetic Pediatric Ataxias

Movement disorders clinical practice (Hoboken, N.J.), 2020-05, Vol.7 (4), p.383-393

2020

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Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB‐related developmental disorder

American journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1395-1400

2023

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LZTFL1, a rare cause of Bardet–Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations?

American journal of medical genetics. Part A, 2024-10, Vol.194 (10), p.e63723-n/a

2024

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Functional Study of SNCA p. V15A Variant: Further Linking α‐Synuclein and Glucocerebrosidase

Movement disorders, 2024-06, Vol.39 (6), p.1060-1065

2024

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Functional Study of SNCA p.V15A Variant: Further Linking α‐Synuclein and Glucocerebrosidase

Movement disorders, 2024-06, Vol.39 (6), p.1060-1065

2024

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WITHDRAWN: Schuurs-Hoeijmakers syndrome: Severe expression of the recurrent PACS1 c.607C>T mutation

Brain & development (Tokyo. 1979), 2021-05

2021

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CDKL5 deficiency disorder in males: Five new variants and review of the literature

European journal of paediatric neurology, 2021-07, Vol.33, p.9-20

2021

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Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract

Clinical genetics, 2024-10, Vol.106 (4), p.403-412

2024

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A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot

Brain & development (Tokyo. 1979), 2023-03, Vol.45 (3), p.179-184

2023

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KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset

Parkinsonism & related disorders, 2020-09, Vol.78, p.129-133

2020

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PUS3‐related disorder: Report of a novel patient and delineation of the phenotypic spectrum

American journal of medical genetics. Part A, 2022-02, Vol.188 (2), p.635-641

2022

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Cerebellar heterotopia in an 11‐year‐old child with KDM6B‐related neurodevelopmental disorder: A case report and review of the literature

American journal of medical genetics. Part A, 2024-06, Vol.194 (6), p.e63555-n/a

2024

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Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome

American journal of medical genetics. Part A, 2020-11, Vol.182 (11), p.2722-2726

2020

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PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives

Neuropediatrics, 2024-04, Vol.55 (2), p.129-134

2024

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Novel insights into the clinico-radiological spectrum of phenotypes associated to PIGN mutations

European journal of paediatric neurology, 2021-07, Vol.33, p.21-28

2021

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Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome

Journal of medical genetics, 2023-09, Vol.60 (9), p.885-893

2023

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Genotype–phenotype correlates in Joubert syndrome: A review

PSEN1 Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype

Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome

Joubert syndrome and hydrocephalus: Further expanding the phenotypic spectrum of a pleiotropic ciliopathy

Advantages of Array Comparative Genomic Hybridization Using Buccal Swab DNA for Detecting Pallister-Killian Syndrome

19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias

Diagnostic Yield and Cost-Effectiveness of “Dynamic” Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy

Glycogen storage disease type V: a still under-recognized condition lacking definitive genotype-phenotype correlates

ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity

Movement Disorders in Genetic Pediatric Ataxias

Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB‐related developmental disorder

LZTFL1, a rare cause of Bardet–Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations?

Functional Study of SNCA p. V15A Variant: Further Linking α‐Synuclein and Glucocerebrosidase

Functional Study of SNCA p.V15A Variant: Further Linking α‐Synuclein and Glucocerebrosidase

WITHDRAWN: Schuurs-Hoeijmakers syndrome: Severe expression of the recurrent PACS1 c.607C>T mutation

CDKL5 deficiency disorder in males: Five new variants and review of the literature

Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract

A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot

KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset

PUS3‐related disorder: Report of a novel patient and delineation of the phenotypic spectrum

Cerebellar heterotopia in an 11‐year‐old child with KDM6B‐related neurodevelopmental disorder: A case report and review of the literature

Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome

PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives

Novel insights into the clinico-radiological spectrum of phenotypes associated to PIGN mutations

Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome

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