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SDS22 coordinates the assembly of holoenzymes from nascent protein phosphatase-1

Nature communications, 2024-06, Vol.15 (1), p.5359-17, Article 5359

2024

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DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

European journal of human genetics : EJHG, 2020-01, Vol.28 (1), p.64-75

2020

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Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype

International journal of molecular sciences, 2023-09, Vol.24 (18), p.13699

2023

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Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

Nature genetics, 2012-05, Vol.44 (5), p.491-501

2012

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De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family

International journal of molecular sciences, 2021-02, Vol.22 (4), p.1549

2021

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Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree

Orphanet journal of rare diseases, 2024-04, Vol.19 (1), p.148-148, Article 148

2024

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Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

Orphanet journal of rare diseases, 2020-02, Vol.15 (1), p.44-44, Article 44

2020

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Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

European journal of human genetics : EJHG, 2020-01, Vol.28 (1), p.138-138

2020

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Genetic analysis of high bone mass cases from the BARCOS cohort of Spanish postmenopausal women

PloS one, 2014-04, Vol.9 (4), p.e94607-e94607

2014

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MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones

BMC medical genomics, 2015-11, Vol.8 (75), p.75-75, Article 75

2015

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Case report of a child bearing a novel deleterious splicing variant in PIGT

Medicine (Baltimore), 2019-02, Vol.98 (8), p.e14524-e14524

2019

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A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes

Scientific reports, 2017-03, Vol.7 (1), p.44138-44138, Article 44138

2017

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A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome

Scientific reports, 2018-01, Vol.8 (1), p.694-6, Article 694

2018

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Erratum to: MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones

BMC medical genomics, 2017-05, Vol.10 (1), p.36-36, Article 36

2017

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Laboratory testing for mitochondrial diseases: biomarkers for diagnosis and follow-up

Critical reviews in clinical laboratory sciences, 2023-06, Vol.60 (4), p.270-289

2023

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The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America

Journal of human genetics, 2006-01, Vol.51 (4), p.305-313

2006

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Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients

Human mutation, 2011-07, Vol.32 (7), p.835-842

2011

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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Nature communications, 2021-05, Vol.12 (1), p.2558-2558, Article 2558

2021

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Fibroblast phenylalanine concentration as a surrogate biomarker of cellular number

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2023-07, Vol.1226, p.123787-123787, Article 123787

2023

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Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel IPPP2R1A/I Variant and Its Unreported Phenotype

International journal of molecular sciences, 2023-09, Vol.24 (18)

2023

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Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2

Journal of medical genetics, 2023-04, Vol.60 (4), p.406

2023

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GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates

The New England journal of medicine, 2017-05, Vol.376 (18), p.1794-1795

2017

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C syndrome - what do we know and what could the future hold?

Expert opinion on orphan drugs, 2019-03, Vol.7 (3), p.91-94

2019

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Genetic landscape of pediatric acute liver failure of indeterminate origin

Hepatology (Baltimore, Md.), 2024-05, Vol.79 (5), p.1075-1087

2024

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SDS22 coordinates the assembly of holoenzymes from nascent protein phosphatase-1

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family

Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

Genetic analysis of high bone mass cases from the BARCOS cohort of Spanish postmenopausal women

MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones

Case report of a child bearing a novel deleterious splicing variant in PIGT

A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes

A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome

Erratum to: MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones

Laboratory testing for mitochondrial diseases: biomarkers for diagnosis and follow-up

The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America

Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Fibroblast phenylalanine concentration as a surrogate biomarker of cellular number

Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel IPPP2R1A/I Variant and Its Unreported Phenotype

Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2

GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates

C syndrome - what do we know and what could the future hold?

Genetic landscape of pediatric acute liver failure of indeterminate origin

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