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NGLY1 deficiency—A rare congenital disorder of deglycosylation

JIMD reports, 2020-05, Vol.53 (1), p.2-9

2020

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AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

Nature communications, 2021-01, Vol.12 (1), p.518-518, Article 518

2021

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New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV

Human mutation, 2021-03, Vol.42 (3), p.261-271

2021

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Face-sparing Congenital Generalized Lipodystrophy Type 1 Associated With Nonclassical Congenital Adrenal Hyperplasia

The journal of clinical endocrinology and metabolism, 2022-09, Vol.107 (9), p.2433-2438

2022

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PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome

American journal of human genetics, 2010-12, Vol.87 (6), p.866-872

2010

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New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV

Human mutation, 2022-12, Vol.43 (12), p.2326-2327

2022

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Anisometropia and asymmetric ABCA4-related cone-rod dystrophy

Ophthalmic genetics, 2022-07, Vol.43 (4), p.576-580

2022

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Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta

Journal of bone and mineral research, 2015-08, Vol.30 (8), p.1445-1456

2015

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Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders

Clinical genetics, 2021-04, Vol.99 (4), p.588-593

2021

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An Autosomal Recessive Syndrome of Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Associated Lipodystrophy

The journal of clinical endocrinology and metabolism, 2010-09, Vol.95 (9), p.E58-E63

2010

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Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy

American journal of medical genetics. Part A, 2020-11, Vol.182 (11), p.2715-2721

2020

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Upper limb phocomelia: A prenatal case of thrombocytopenia-absent radius (TAR) syndrome illustrating the importance of chromosomal microarray in limb reduction defects

Taiwanese journal of obstetrics & gynecology, 2020-03, Vol.59 (2), p.318-322

2020

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Encefalopatias Epilépticas Infantis: O Novo Paradigma do Diagnóstico Genético

Acta médica portuguesa, 2020-06, Vol.33 (6), p.415-424

2020

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Neonatal McCune-Albright syndrome with systemic involvement: a case report

Journal of medical case reports, 2015-09, Vol.9 (1), p.189-189, Article 189

2015

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Monozygotic Twins Concordant for Common Variable Immunodeficiency: Strikingly Similar Clinical and Immune Profile Associated With a Polygenic Burden

Frontiers in immunology, 2019-11, Vol.10, p.2503-2503

2019

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Prenatal diagnosis of holoprosencephaly associated with Smith–Lemli–Opitz syndrome (SLOS) in a 46,XX fetus

Taiwanese journal of obstetrics & gynecology, 2017-08, Vol.56 (4), p.541-544

2017

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Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes

European journal of human genetics : EJHG, 2015-03, Vol.23 (3), p.347-353

2015

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Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

Molecular genetics & genomic medicine, 2015-05, Vol.3 (3), p.203-214

2015

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New ocular findings in a patient with a novel pathogenic variant in the FBXO11 gene

Journal of AAPOS, 2022-10, Vol.26 (5), p.268-270

2022

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Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa

American journal of human genetics, 2024-10, Vol.111 (10), p.2299-2306

2024

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Clinical characterization of a patient with CNOT2 haploinsufficiency caused by a de novo partial deletion

Clinical dysmorphology, 2023-04, Vol.32 (2), p.70-73

2023

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PSMB8 Encoding the beta 5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome

American journal of human genetics, 2010-12, Vol.87 (6), p.866-872

2010

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Adult syndromology: challenges, opportunities and perspectives: Illustrated by the description of four adults with Costello syndrome

Medizinische Genetik, 2024-06, Vol.36 (2), p.95-102

2024

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Uniparental Disomy as a Mechanism for Combined Oxidative Phosphorylation Deficiency Associated with MRPS34 Gene

Endocrine, metabolic & immune disorders drug targets, 2024-01, Vol.24

2024

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Genetic profile of syndromic retinitis pigmentosa in Portugal

Graefe's archive for clinical and experimental ophthalmology, 2024-06, Vol.262 (6), p.1883-1897

2024

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NGLY1 deficiency—A rare congenital disorder of deglycosylation

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV

Face-sparing Congenital Generalized Lipodystrophy Type 1 Associated With Nonclassical Congenital Adrenal Hyperplasia

PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome

New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV

Anisometropia and asymmetric ABCA4-related cone-rod dystrophy

Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta

Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders

An Autosomal Recessive Syndrome of Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Associated Lipodystrophy

Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy

Upper limb phocomelia: A prenatal case of thrombocytopenia-absent radius (TAR) syndrome illustrating the importance of chromosomal microarray in limb reduction defects

Encefalopatias Epilépticas Infantis: O Novo Paradigma do Diagnóstico Genético

Neonatal McCune-Albright syndrome with systemic involvement: a case report

Monozygotic Twins Concordant for Common Variable Immunodeficiency: Strikingly Similar Clinical and Immune Profile Associated With a Polygenic Burden

Prenatal diagnosis of holoprosencephaly associated with Smith–Lemli–Opitz syndrome (SLOS) in a 46,XX fetus

Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

New ocular findings in a patient with a novel pathogenic variant in the FBXO11 gene

Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa

Clinical characterization of a patient with CNOT2 haploinsufficiency caused by a de novo partial deletion

PSMB8 Encoding the beta 5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome

Adult syndromology: challenges, opportunities and perspectives: Illustrated by the description of four adults with Costello syndrome

Uniparental Disomy as a Mechanism for Combined Oxidative Phosphorylation Deficiency Associated with MRPS34 Gene

Genetic profile of syndromic retinitis pigmentosa in Portugal

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