Author details

Full Name

Carlos R Ferreira

Affiliation

ORCID

Career Start Year

2014

Papers

123

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36996445	EXTENSIVE SUBRETINAL FIBROSIS ASSOCIATED WITH PSEUDOXANTHOMA ELASTICUM.	Retin Cases Brief Rep	2024
37517329	Clinical and biochemical footprints of inherited metabolic diseases. XIII. Respiratory manifestations.		2023
35913761	Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.	Hum Mol Genet	2023
36322149	Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: AÂ genotype-phenotype correlation study.	Genet Med	2023
37597335	Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases.		2023
37659319	Clinical and biochemical footprints of inherited metabolic diseases. XV. Epilepsies.	Mol Genet Metab	2023
37586838	Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.	J Med Genet	2023
37989003	Clinical and biochemical footprints of inherited metabolic disease. XVI. Hematological abnormalities.		2023
37087816	Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects.		2023
36774919	Clinical and biochemical footprints of inherited metabolic disorders. XI. Gastrointestinal symptoms.		2023
37454964	Identification of potential non-invasive biomarkers in diastrophic dysplasia.	Bone	2023
35328062	2022 Overview of Metabolic Epilepsies.	Genes	2022
36183456	Clinical and biochemical footprints of inherited metabolic diseases. IX. Metabolic ear disease.	Molecular Genetics and Metabolism	2022
36093861	Determination of FGF23 Levels for the Diagnosis of FGF23-Mediated Hypophosphatemia.	J Bone Miner Res	2022
36155185	Clinical and biochemical footprints of inherited metabolic disorders: X. Metabolic myopathies.	Molecular Genetics and Metabolism	2022
36150100	ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database.	Human Mutation	2022
35422340	Clinical and biochemical footprints of inherited metabolic diseases. VIII. Neoplasias.	Molecular Genetics and Metabolism	2022
35802600	Genetics of non-isolated hemivertebra: A systematic review of fetal, neonatal, and infant cases.	Clinical Genetics	2022
35854274	Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI).	Orphanet Journal of Rare Diseases	2022
36461014	Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases.	Orphanet Journal of Rare Diseases	2022
33775522	Clinical and biochemical footprints of inherited metabolic disease. V. Cerebral palsy phenotypes.	Molecular Genetics and Metabolism	2022
33495304	<i>DDX58</i>(RIG-I)-related disease is associated with tissue-specific interferon pathway activation.	J Med Genet	2022
34918187	DTYMK is essential for genome integrity and neuronal survival.	Acta Neuropathol	2022
35227579	Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes.	Molecular Genetics and Metabolism	2022
35224839	De novo loss-of-function variant in PTDSS1 is associated with developmental delay.	American Journal of Medical Genetics, Part A	2022
35179230	PIGN encephalopathy: Characterizing the epileptology.	Epilepsia	2022
34882836	Musculoskeletal Comorbidities and Quality of Life in ENPP1-Deficient Adults and the Response of Enthesopathy to Enzyme Replacement Therapy in Murine Models.	Journal of Bone and Mineral Research	2022
33388235	Clinical and biochemical footprints of inherited metabolic diseases. IV. Metabolic cardiovascular disease.	Molecular Genetics and Metabolism	2021
33644249	The Application of Neurodiagnostic Studies to Inform the Acute Management of a Newborn Presenting With Sarbamoyl Shosphate Synthetase 1 Deficiency.		2021
33905568	Germline Saturation Mutagenesis Induces Skeletal Phenotypes in Mice.	Journal of Bone and Mineral Research	2021
34057202	Lysosomal storage disorders as an etiology of nonimmune hydrops fetalis: A systematic review.	Clinical Genetics	2021
33845862	Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app.	Orphanet Journal of Rare Diseases	2021
33465815	Response of the ENPP1-Deficient Skeletal Phenotype to Oral Phosphate Supplementation and/or Enzyme Replacement Therapy: Comparative Studies in Humans and Mice.	Journal of Bone and Mineral Research	2021
34040193	Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.	Genet Med	2021
34258142	The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses.	JIMD Rep	2021
34089226	Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy.	Am J Med Genet A	2021
34135486	Response to Stern et al.	Genetics in Medicine	2021
34304991	Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses.	Molecular Genetics and Metabolism	2021
33594685	Inherited disorders of complex lipid metabolism: A clinical review.	Journal of Inherited Metabolic Disease	2021
32681750	International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.	J Inherit Metab Dis	2021
33005041	Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).	Genet Med	2021
31395947	Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.	Eur J Hum Genet	2020
31651069	Mevalonic aciduria: Does stem cell transplant fully cure disease?	Pediatric Transplantation	2020
32420688	Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1.	Am J Med Genet A	2020
31949312	Defining the clinical phenotype of Saul-Wilson syndrome.	Genet Med	2020
32122747	Clinical and biochemical footprints of inherited metabolic diseases. III. Psychiatric presentations.	Molecular Genetics and Metabolism	2020
31784481	Linked-read genome sequencing identifies biallelic pathogenic variants in <i>DONSON</i> as a novel cause of Meier-Gorlin syndrome.	J Med Genet	2020
32172442	Generalized Arterial Calcification of Infancy: New Insights, Controversies, and Approach to Management.	Current Osteoporosis Reports	2020
32048457	A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.	Molecular genetics & genomic medicine	2020
32157688	B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature.	Clinical Genetics	2020