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A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy

International journal of molecular sciences, 2020-10, Vol.21 (20), p.7631

2020

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A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin‐associated iron overload diseases

British journal of haematology, 2009-11, Vol.147 (3), p.379-385

2009

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POGZ‐related epilepsy: Case report and review of the literature

American journal of medical genetics. Part A, 2019-08, Vol.179 (8), p.1631-1636

2019

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NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations

Human mutation, 2019-06, Vol.40 (6), p.721-728

2019

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Small 4p16.3 deletions: Three additional patients and review of the literature

American journal of medical genetics. Part A, 2018-11, Vol.176 (11), p.2501-2508

2018

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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Genetics in medicine, 2023-04, Vol.25 (4), p.100018-100018, Article 100018

2023

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Front Cover, Volume 40, Issue 6

Human mutation, 2019-06, Vol.40 (6), p.i-i

2019

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Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

European journal of medical genetics, 2022-01, Vol.65 (1), p.104402-104402, Article 104402

2022

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Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

American journal of human genetics, 2020-09, Vol.107 (3), p.499-513

2020

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Long-Term Outcomes and Prognostic Factors After Pencil-Beam Scanning Proton Radiation Therapy for Spinal Chordomas: A Large, Single-Institution Cohort

International journal of radiation oncology, biology, physics, 2018-05, Vol.101 (1), p.226-233

2018

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Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

American journal of medical genetics. Part C, Seminars in medical genetics, 2022-06, Vol.190 (2), p.231-242

2022

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Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype

Clinical genetics, 2023-02, Vol.103 (2), p.156-166

2023

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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

American journal of human genetics, 2021-03, Vol.108 (3), p.502-516

2021

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Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

American journal of human genetics, 2019-09, Vol.105 (3), p.493-508

2019

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Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

The Journal of clinical investigation, 2021-03, Vol.131 (5), p.1-12

2021

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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

American journal of human genetics, 2021-10, Vol.108 (10), p.2006-2016

2021

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Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major

Haematologica (Roma), 2009-09, Vol.94 (9), p.1293-1296

2009

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Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

Genetics in medicine, 2020-08, Vol.22 (8), p.1338-1347

2020

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Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders

Orphanet journal of rare diseases, 2020-04, Vol.15 (1), p.103-103, Article 103

2020

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TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

American journal of medical genetics. Part A, 2021-08, Vol.185 (8), p.2417-2433

2021

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Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Science advances, 2020-12, Vol.6 (49)

2020

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Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

HGG advances, 2023-04, Vol.4 (2), p.100186-100186, Article 100186

2023

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A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy

A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin‐associated iron overload diseases

POGZ‐related epilepsy: Case report and review of the literature

NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations

Small 4p16.3 deletions: Three additional patients and review of the literature

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Front Cover, Volume 40, Issue 6

Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

Long-Term Outcomes and Prognostic Factors After Pencil-Beam Scanning Proton Radiation Therapy for Spinal Chordomas: A Large, Single-Institution Cohort

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes

Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

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