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ZC4H2 deletions can cause severe phenotype in female carriers

American journal of medical genetics. Part A, 2017-05, Vol.173 (5), p.1358-1363

2017

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Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus

Frontiers in neurology, 2023-07, Vol.14, p.1199095

2023

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Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region

American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.148-155

2016

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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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Consensus Paper: The Cerebellum's Role in Movement and Cognition

Cerebellum (London, England), 2014-02, Vol.13 (1), p.151-177

2014

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Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI

Orphanet journal of rare diseases, 2012-01, Vol.7 (1), p.4-4, Article 4

2012

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Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype

European journal of human genetics : EJHG, 2018-07, Vol.26 (7), p.928-929

2018

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CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder

Journal of autism and developmental disorders, 2023-02, Vol.53 (2), p.615-623

2023

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Artificial Intelligence Applications for Thoracic Surgeons: “The Phenomenal Cosmic Powers of the Magic Lamp”

Journal of clinical medicine, 2024-06, Vol.13 (13), p.3750

2024

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Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

European radiology, 2017-12, Vol.27 (12), p.5080-5092

2017

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A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele

European journal of human genetics : EJHG, 2022-11, Vol.30 (11), p.1233-1238

2022

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The syndrome of perisylvian polymicrogyria with congenital arthrogryposis

Brain & development (Tokyo. 1979), 2010-08, Vol.32 (7), p.550-555

2010

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De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation

Brain (London, England : 1878), 2017-06, Vol.140 (6), p.e34-e34

2017

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Fibrocartilaginous embolism: a rare cause leading to spinal cord infarction?

Neurological sciences, 2023, Vol.44 (1), p.263-271

2023

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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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Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome

Nephrology, dialysis, transplantation, 2020-07, Vol.35 (7), p.1195-1202

2020

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Structural and connectivity parameters reveal spared connectivity in young patients with non-progressive compared to slow-progressive cerebellar ataxia

Frontiers in neurology, 2023-10, Vol.14, p.1279616-1279616

2023

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The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children

Journal of child neurology, 2016-05, Vol.31 (6), p.691-699

2016

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Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion Involving BCL2L10, GNB5, and MYO5C Genes, Resembling Infantile Developmental Disorder With Cardiac Arrhythmias (IDDCA)

Frontiers in genetics, 2020-05, Vol.11, p.399-399

2020

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Pediatric Slow-Progressive, but Not Non-Progressive Cerebellar Ataxia Delays Intra-Limb Anticipatory Postural Adjustments in the Upper Arm

Brain sciences, 2023-04, Vol.13 (4), p.620

2023

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

Cerebellum (London, England), 2019-10, Vol.18 (5), p.972-975

2019

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Intellectual and language findings and their relationship to EEG characteristics in benign childhood epilepsy with centrotemporal spikes

Epilepsy & behavior, 2007-03, Vol.10 (2), p.278-285

2007

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Periventricular heterotopia in a male child with USP9X missense variant

American journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1350-1354

2023

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ZC4H2 deletions can cause severe phenotype in female carriers

Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus

Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region

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

Consensus Paper: The Cerebellum's Role in Movement and Cognition

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI

Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype

CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder

Artificial Intelligence Applications for Thoracic Surgeons: “The Phenomenal Cosmic Powers of the Magic Lamp”

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis

De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation

Fibrocartilaginous embolism: a rare cause leading to spinal cord infarction?

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

Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome

Structural and connectivity parameters reveal spared connectivity in young patients with non-progressive compared to slow-progressive cerebellar ataxia

The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children

Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion Involving BCL2L10, GNB5, and MYO5C Genes, Resembling Infantile Developmental Disorder With Cardiac Arrhythmias (IDDCA)

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects

Pediatric Slow-Progressive, but Not Non-Progressive Cerebellar Ataxia Delays Intra-Limb Anticipatory Postural Adjustments in the Upper Arm

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

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

Intellectual and language findings and their relationship to EEG characteristics in benign childhood epilepsy with centrotemporal spikes

Periventricular heterotopia in a male child with USP9X missense variant

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