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Guidelines for diagnostic next-generation sequencing

European journal of human genetics : EJHG, 2016-01, Vol.24 (1), p.2-5

2016

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Challenges in molecular diagnosis of X-linked Intellectual disability

British medical bulletin, 2020-05, Vol.133 (1), p.36-48

2020

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Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype

Proceedings of the National Academy of Sciences - PNAS, 2019-05, Vol.116 (20), p.9865-9870

2019

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Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature

European journal of obstetrics & gynecology and reproductive biology, 2019-09, Vol.240, p.232-241

2019

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TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

American journal of human genetics, 2012-07, Vol.91 (1), p.15-26

2012

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An ALS case with 38 (G4C2)-repeats in the C9orf72 gene shows TDP-43 and sparse dipeptide repeat protein pathology

Acta neuropathologica, 2019-05, Vol.137 (5), p.855-858

2019

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Diagnostic yield of testing for RFC1 repeat expansions in patients with unexplained adult-onset cerebellar ataxia

Journal of neurology, neurosurgery and psychiatry, 2020-11, Vol.91 (11), p.1233

2020

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DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy

Annals of neurology, 2012-10, Vol.72 (4), p.550-558

2012

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Guidelines for diagnostic next-generation sequencing

European journal of human genetics : EJHG, 2016-10, Vol.24 (10), p.1515-1515

2016

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MAN1B1 deficiency: an unexpected CDG-II

PLoS genetics, 2013, Vol.9 (12), p.e1003989-e1003989

2013

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Frequency of C9orf72 repeat expansions in amyotrophic lateral sclerosis: a Belgian cohort study

Neurobiology of aging, 2013-12, Vol.34 (12), p.2890.e7-2890.e12

2013

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Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy

European journal of human genetics : EJHG, 2014-06, Vol.22 (6), p.847-850

2014

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Correlation between the Lactate Dehydrogenase Levels with Laboratory Variables in the Clinical Severity of Sickle Cell Anemia in Congolese Patients

PloS one, 2015-05, Vol.10 (5), p.e0123568-e0123568

2015

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Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience

The Journal of pediatrics, 2021-04, Vol.231, p.148-156

2021

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RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement

European journal of neurology, 2022-01, Vol.29 (1), p.345-349

2022

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Parkinson's Disease with a Homozygous PARK7 Mutation and Clinical Onset at the Age of 5 Years

Movement disorders clinical practice (Hoboken, N.J.), 2021-01, Vol.8 (1), p.149-152

2021

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Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR Congo

Journal of community genetics, 2019-01, Vol.10 (1), p.153-159

2019

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Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG

Glycobiology (Oxford), 2015-06, Vol.25 (6), p.669-682

2015

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COG5-CDG: expanding the clinical spectrum

Orphanet journal of rare diseases, 2012-12, Vol.7 (1), p.94-94, Article 94

2012

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Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis

Human molecular genetics, 2012-06, Vol.21 (11), p.2412-2419

2012

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SLC37A4‐CDG: Second patient

JIMD reports, 2021-03, Vol.58 (1), p.122-128

2021

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Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG

Glycoconjugate journal, 2013, Vol.30 (1), p.67-76

2013

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Protective BCL11A and HBS1L‐MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia

Journal of clinical laboratory analysis, 2018-01, Vol.32 (1), p.n/a

2018

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Clinical and muscle MRI features in a family with tubular aggregate myopathy and novel STIM1 mutation

Neuromuscular disorders : NMD, 2020-09, Vol.30 (9), p.709-718

2020

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MAN1B1 Deficiency: An Unexpected CDG-II: e1003989

PLoS genetics, 2013-12, Vol.9 (12)

2013

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Guidelines for diagnostic next-generation sequencing

Challenges in molecular diagnosis of X-linked Intellectual disability

Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype

Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature

TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

An ALS case with 38 (G4C2)-repeats in the C9orf72 gene shows TDP-43 and sparse dipeptide repeat protein pathology

Diagnostic yield of testing for RFC1 repeat expansions in patients with unexplained adult-onset cerebellar ataxia

DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy

Guidelines for diagnostic next-generation sequencing

MAN1B1 deficiency: an unexpected CDG-II

Frequency of C9orf72 repeat expansions in amyotrophic lateral sclerosis: a Belgian cohort study

Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy

Correlation between the Lactate Dehydrogenase Levels with Laboratory Variables in the Clinical Severity of Sickle Cell Anemia in Congolese Patients

Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience

RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement

Parkinson's Disease with a Homozygous PARK7 Mutation and Clinical Onset at the Age of 5 Years

Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR Congo

Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG

COG5-CDG: expanding the clinical spectrum

Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis

SLC37A4‐CDG: Second patient

Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG

Protective BCL11A and HBS1L‐MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia

Clinical and muscle MRI features in a family with tubular aggregate myopathy and novel STIM1 mutation

MAN1B1 Deficiency: An Unexpected CDG-II: e1003989

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