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Works (23)

COG4 Variant and Saul-Wilson Syndrome

2024 | Book chapter
Contributors: Carlos R. Ferreira
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Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies

Journal of Bone and Mineral Research
2021-11 | Journal article
Contributors: Carlos R Ferreira; Kristina Kintzinger; Mary E Hackbarth; Ulrike Botschen; Yvonne Nitschke; M Zulf Mughal; Genevieve Baujat; Dirk Schnabel; Eric Yuen; William A Gahl et al.
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Response to Stern et al.

Genetics in Medicine
2021-10 | Journal article
Contributors: Shira G. Ziegler; Carlos R. Ferreira
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Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)

Genetics in Medicine
2021-02 | Journal article
Contributors: Carlos R. Ferreira; Mary E. Hackbarth; Shira G. Ziegler; Kristen S. Pan; Mary S. Roberts; Douglas R. Rosing; Margaret S. Whelpley; Joy C. Bryant; Ellen F. Macnamara; Sisi Wang et al.
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An international classification of inherited metabolic disorders (ICIMD)

Journal of Inherited Metabolic Disease
2021-01 | Journal article
Contributors: Carlos R. Ferreira; Shamima Rahman; Markus Keller; Johannes Zschocke
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DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature

Molecular Genetics & Genomic Medicine
2020-12 | Journal article
Contributors: Laura E. Meissner; Ellen F. Macnamara; Precilla D'Souza; John Yang; Gilbert Vezina; Carlos R. Ferreira; Wadih M. Zein; Cynthia J. Tifft; David R. Adams
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Determination of FGF23 Levels for the Diagnosis of FGF23-Mediated Hypophosphatemia

Journal of Bone and Mineral Research
2020-12-01 | Journal article
Contributors: Iris R. Hartley; Rachel I. Gafni; Kelly L. Roszko; Sydney M. Brown; Luis F. de Castro; Amanda Saikali; Carlos R. Ferreira; William A. Gahl; Karel Pacak; Jenny E. Blau et al.
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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
2020-12-01 | Journal article
Contributors: Carlos R. Ferreira; Anenya Jai Ansh; Catherine Nester; Christine O'Brien; Paul R. Stabach; Sae-Il Murtada; Ethan R. Lester; Gus Khursigara; Liz Molloy; Thomas O. Carpenter et al.
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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
2020-12-01 | Journal article
Contributors: Carlos R Ferreira; Dillon Kavanagh; Ralf Oheim; Kristin Zimmerman; Julian Stürznickel; Xiaofeng Li; Paul Stabach; R Luke Rettig; Logan Calderone; Colin MacKichan et al.
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Mitochondrial energetic impairment in a patient with late‐onset glutaric acidemia Type 2

American Journal of Medical Genetics Part A
2020-10 | Journal article
Contributors: Changrui Xiao; Esteban Astiazaran‐Symonds; Shrabani Basu; Monisha Kisling; Fernando Scaglia; Kimberly A. Chapman; Yudong Wang; Jerry Vockley; Carlos R. Ferreira
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Growth in individuals with Saul–Wilson syndrome

American Journal of Medical Genetics Part A
2020-09 | Journal article
Contributors: Carlos R. Ferreira; Timothy Niiler; Angela L. Duker; Andrew P. Jackson; Michael B. Bober
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Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1

American Journal of Medical Genetics Part A
2020-07 | Journal article
Contributors: Daniel R. Carvalho; Carlos E. Speck‐Martins; Jaime M. Brum; Carlos R. Ferreira; Nara L. M. Sobreira
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Defining the clinical phenotype of Saul–Wilson syndrome

Genetics in Medicine
2020-05 | Journal article
Contributors: Carlos R. Ferreira; Wadih M. Zein; Laryssa A. Huryn; Andrea Merker; Seth I. Berger; William G. Wilson; George E. Tiller; Lynne A. Wolfe; Melissa Merideth; Daniel R. Carvalho et al.
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Elevated urine oxalate and renal calculi in a classic galactosemia patient on soy‐based formula

JIMD Reports
2019-09 | Journal article
Contributors: Julia A. Sabatino; Danielle Starin; Shamir Tuchman; Carlos Ferreira; Debra S. Regier
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TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation

American Journal of Medical Genetics Part A
2019-07 | Journal article
Contributors: Orna Staretz‐Chacham; Ohad Wormser; Esther Manor; Ohad S. Birk; Carlos R. Ferreira
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The burden of rare diseases

American Journal of Medical Genetics Part A
2019-06 | Journal article
Contributors: Carlos R. Ferreira
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Corrigendum to “The human phenotype of ornithine decarboxylase superactivity: a new syndrome”

American Journal of Medical Genetics Part A
2019-04 | Journal article
Contributors: Carlos R. Ferreira
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The human phenotype of ornithine decarboxylase superactivity: A new syndrome

American Journal of Medical Genetics Part A
2018-12 | Journal article
Contributors: Carlos R. Ferreira
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Basan gets a new fingerprint: Mutations in the skin‐specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia

American Journal of Medical Genetics Part A
2018-11 | Journal article
Contributors: Monica N. Valentin; Benjamin D. Solomon; Gabriele Richard; Carlos R. Ferreira; Anna Yasmine Kirkorian
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Cover Image, Volume 173A, Number 12, December 2017

American Journal of Medical Genetics Part A
2017-12 | Journal article
Contributors: Isabel Hardee; Ariane Soldatos; Mariska Davids; Thierry Vilboux; Camilo Toro; Karen L. David; Carlos R. Ferreira; Michele Nehrebecky; Joseph Snow; Audrey Thurm et al.
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Defective ciliogenesis in INPP5E‐related Joubert syndrome

American Journal of Medical Genetics Part A
2017-12 | Journal article
Contributors: Isabel Hardee; Ariane Soldatos; Mariska Davids; Thierry Vilboux; Camilo Toro; Karen L. David; Carlos R. Ferreira; Michele Nehrebecky; Joseph Snow; Audrey Thurm et al.
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Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease

Molecular Genetics & Genomic Medicine
2017-07 | Journal article
Contributors: Carlos R. Ferreira; Debra S. Regier; Donald W. Hadley; P. Suzanne Hart; Maximilian Muenke
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Biotin‐thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next‐generation sequencing data

American Journal of Medical Genetics Part A
2017-06 | Journal article
Contributors: Carlos R. Ferreira; Matthew T. Whitehead; Eyby Leon
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Peer review (23 reviews for 8 publications/grants)

Review activity for Bone Research. (5)
Review activity for Calcified tissue international. (1)
Review activity for Genetics in medicine. (5)
Review activity for Molecular genetics and metabolism. (5)
Review activity for Nature communications (1)
Review activity for Orphanet journal of rare diseases. (4)
Review activity for PLOS genetics. (1)
Review activity for The journal of clinical endocrinology and metabolism. (1)