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Heterozygous variants in SPTBN1 cause intellectual disability and autism

American journal of medical genetics. Part A, 2021-07, Vol.185 (7), p.2037-2045

2021

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Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing

Genetics in Medicine Open, 2023, Vol.1 (1), p.100833, Article 100833

2023

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Adult polyglucosan body disease—an atypical compound heterozygous with a novel GBE1 mutation

Neurological sciences, 2021-07, Vol.42 (7), p.2955-2959

2021

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Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Brain (London, England : 1878), 2024-04, Vol.147 (4), p.1436-1456

2024

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At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years

European journal of human genetics : EJHG, 2023-10, Vol.31 (10), p.1108-1116

2023

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P427: Beyond genomics: Using RNA-seq in filter cards to unlock the clinical relevance of noncoding variation in splicing

Genetics in Medicine Open, 2023, Vol.1 (1), p.100474, Article 100474

2023

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Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease

Frontiers in genetics, 2017-10, Vol.8, p.143

2017

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P219: Genetic, biochemical and clinical properties of GLA p.Asp313Tyr variant in a large German cohort

Genetics in Medicine Open, 2024, Vol.2, p.101116, Article 101116

2024

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P614: The clinical genome: Validation data beyond clinical exome

Genetics in Medicine Open, 2024, Vol.2, p.101520, Article 101520

2024

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The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

Genetics in medicine, 2019-12, Vol.21 (12), p.2734-2743

2019

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Intergenerational instability in Huntington disease: Extreme repeat changes among 134 transmissions

Movement disorders, 2012-04, Vol.27 (4), p.583-585

2012

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P576: Impact of processed pseudogene insertions in genetic testing as cause of monogenic diseases: Insertion in CLCN1 gene causing myotonia congenita

Genetics in Medicine Open, 2023, Vol.1 (1), p.100623, Article 100623

2023

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Genomic imbalances defining novel intellectual disability associated loci

Orphanet journal of rare diseases, 2019-07, Vol.14 (1), p.164-164, Article 164

2019

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Osteopathia striata with cranial sclerosis owing to WTX gene defect

Journal of bone and mineral research, 2010-01, Vol.25 (1), p.82-90

2010

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A Distinct Phenotype in a Novel ATP1A3 Mutation: Connecting the Two Ends of a Spectrum

Movement disorders clinical practice (Hoboken, N.J.), 2016-07, Vol.3 (4), p.398-401

2016

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A New Mutation Causing Progressive Familiar Intrahepatic Cholestasis Type 3 in Association with Autoimmune Hepatitis

European journal of case reports in internal medicine, 2017-03, Vol.4 (2), p.000537

2017

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At a glance: The largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107025, Article 107025

2023

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FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes

Behavioral and brain functions, 2011-06, Vol.7 (1), p.19-19, Article 19

2011

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The first Portuguese family with NEFL-related Charcot-Marie-Tooth type 2 disease

Acta myologica, 2019-09, Vol.38 (3), p.180-183

2019

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Muenke syndrome with osteochondroma

American journal of medical genetics. Part A, 2009-02, Vol.149A (2), p.260-261

2009

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The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene

Genetics in medicine, 2019-12, Vol.21 (12), p.2734-2743

2019

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An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients

European journal of human genetics : EJHG, 2022-09, Vol.30 (9), p.1029-1035

2022

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OP033: An integrated multiomic panel as an excellent tool for the genetic diagnosis of metabolic diseases: Our first 3,720 patients

Genetics in medicine, 2022-03, Vol.24 (3), p.S361-S361

2022

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Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

American journal of human genetics, 2022-10, Vol.109 (10), p.1909-1922

2022

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DOK7 myasthenic syndrome with subacute adult onset during pregnancy and partial response to fluoxetine

Neuromuscular disorders : NMD, 2018-03, Vol.28 (3), p.278-282

2018

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Heterozygous variants in SPTBN1 cause intellectual disability and autism

Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing

Adult polyglucosan body disease—an atypical compound heterozygous with a novel GBE1 mutation

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years

P427: Beyond genomics: Using RNA-seq in filter cards to unlock the clinical relevance of noncoding variation in splicing

Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease

P219: Genetic, biochemical and clinical properties of GLA p.Asp313Tyr variant in a large German cohort

P614: The clinical genome: Validation data beyond clinical exome

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

Intergenerational instability in Huntington disease: Extreme repeat changes among 134 transmissions

P576: Impact of processed pseudogene insertions in genetic testing as cause of monogenic diseases: Insertion in CLCN1 gene causing myotonia congenita

Genomic imbalances defining novel intellectual disability associated loci

Osteopathia striata with cranial sclerosis owing to WTX gene defect

A Distinct Phenotype in a Novel ATP1A3 Mutation: Connecting the Two Ends of a Spectrum

A New Mutation Causing Progressive Familiar Intrahepatic Cholestasis Type 3 in Association with Autoimmune Hepatitis

At a glance: The largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes

The first Portuguese family with NEFL-related Charcot-Marie-Tooth type 2 disease

Muenke syndrome with osteochondroma

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients

OP033: An integrated multiomic panel as an excellent tool for the genetic diagnosis of metabolic diseases: Our first 3,720 patients

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

DOK7 myasthenic syndrome with subacute adult onset during pregnancy and partial response to fluoxetine

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