José Andrés Morales Corado

Work

Columbia University Medical Center
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Assistant Professor

US

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Freeman Sheldon Research Group
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Graduate Research Assistant

US

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VIDA Volunteer
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In-Country Medical Supervisor

Guatemala

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Hospital General San Juan de Dios
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Medical Genetics Fellow

Guatemala

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Harvard Medical School
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Visting Clinical Genetics Fellow (Observership)

US

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University of Utah
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Visiting Clinical Genetics Fellow (Ovservership)

US

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Education

Stanford University
United States of America

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Medical Biochemical Genetics Fellow

Stanford University
United States of America

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Medical Genetics Fellow

Lincoln Medical and Mental Health Center
United States of America

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Resident

Universidad de San Carlos de Guatemala
Guatemala

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Médico y Cirujano

Publications

Casgevy (exagamglogene autotemcel) and Lyfgenia (lovotibeglogene autotemcel) for individuals 12 years and older with sickle cell disease (SCD) and recurrent vaso-occlusive crises (VOC): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)

Published by

Genetics in Medicine Open

Summary

journal-article

Hyperammonemia and inborn errors of metabolism

Published by

Translational Pediatrics

Summary

journal-article

Trofinetide approved for children and adults with Rett syndrome (RTT): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)

Published by

Genetics in Medicine Open

Summary

journal-article

Hyperphenylalaninemia, BH4 Deficient (HPABH4)

Published by

Genetic Syndromes

Summary

book-chapter

Carnitine-Acylcarnitine Translocase Deficiency

Published by

GeneReviews

Summary

book-chapter

Clinical and molecular characterization of five new individuals with WAC‐related intellectual disability: Evidence of pathogenicity for a novel splicing variant

Published by

American Journal of Medical Genetics Part A

Summary

journal-article

Neuroimaging findings in inborn errors of metabolism: atypical findings from five cases affected by small molecule disorders

Published by

Society for Inherited Metabolic Disorders 2022 Annual Meeting

Summary

conference-abstract

Osteoporosis Genetics for Everyone

Published by

Strides for Long Bones. Bone Health TeleECHO Spokane.

Summary

lecture-speech

Hyperammonemia in Fibrolamellar Carcinoma

Published by

2022 Western Medical Research Conference

Summary

conference-abstract

Macroangiopathy, Not So Common in MELAS?

Published by

2022 Western Medical Research Conference

Summary

conference-abstract

Uncommon Neuroimaging Findings in Inborn Errors of Metabolism

Published by

2022 Western Medical Research Conference. Journal of Investigative Medicine

Summary

conference-abstract

MELAS & Stroke-like Episodes: Taurine as Preventive Agent

Published by

Medical Genetics Grand Rounds, Stanford University

Summary

lecture-speech

Epileptic encephalopathy: link between genes and vitamins

Published by

62nd National Pediatrics Meeting: Medicine Based in Pathophysiology

Summary

lecture-speech

From laboratory to clinic: practical management of urea cycle disorders

Published by

62nd National Pediatrics Meeting: Medicine Based in Pathophysiology

Summary

lecture-speech

Atypical Apert syndrome secondary to rare FGFR2 exon 8 deletion

Published by

2021 Northern California Genetics Exchange

Summary

lecture-speech

PHOX2B: variable expression of a novel likely pathogenic exon 1 deletion

Published by

2021 Northern California Genetics Exchange

Summary

lecture-speech

Aicardi‐Goutières syndrome may present with positive newborn screen for X‐linked adrenoleukodystrophy

Published by

American Journal of Medical Genetics Part A

Summary

journal-article

A career in medical genetics

Published by

Genetics & Medical Technology Interest Group, College of Osteopathic Medicine of the Pacific

Summary

lecture-speech

Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a <i>de novo</i> pathogenic variant in <i>PHKA2</i>.

Published by

Molecular genetics and metabolism reports

Summary

journal-article

Unexpected Diagnoses in Patients with Abnormal Newborn Screening

Published by

2021 Annual Clinical Genetics Meeting

Summary

conference-abstract

Phenotypic characterization of WAC related intellectual disability due to a novel splicing variant

Published by

2021 Western Medical Research Conference

Summary

conference-abstract

Fibrous dysplasia: overview & therapeutic strategies

Published by

Medical Genetics Grand Rounds, Stanford University

Summary

lecture-speech

Skeletal dysplasias: a standardized protocol for prenatal diagnosis

Published by

2020 Western Medical Research Conference. Journal of Investigative Medicine

Summary

conference-abstract

FGFR3 chondrodysplasias: novel investigational therapies.

Published by

Medical Genetics Grand Rounds, Stanford University

Summary

lecture-speech

Dystrophinopathies

Summary

online-resource

Newborn with Hypotonia & Seizures: A New Mutation in HSD17B4 correlating to D-Bifunctional Protein Deficiency.

Published by

2018 Annual Research Competition, Lincoln Medical Center Auditorium

Summary

conference-poster

Arginase Deficiency (Argininemia)

Summary

online-resource

Arginase Deficiency

Summary

book-chapter

Glycogen Storage Disease, Type II (Pompe Disease)

Summary

journal-article

Findings, phenotypes, and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes and distal arthrogryposis types 1 and 3: protocol for systematic review and patient-level data meta-analysis.

Published by

Systematic reviews

Summary

journal-article

Atypical Presentation of Previously Described Classical Ataxia Telangiectasia Pathogenic Mutation.

Published by

Journal of Medical Diagnostic Methods

Summary

journal-article

Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features

Published by

BMJ Case Reports

Summary

journal-article

Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features

Published by

BMJ Case Reports

Summary

journal-article

Preconceptional Checkup

Published by

Revista Consulta Medica

Summary

other

Turner Syndrome

Published by

Revista Consulta Medica

Summary

other

Uncommon Diseases

Published by

“Un Show con Tuti”, Guatevision Television Network

Summary

lecture-speech

c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.

Published by

BMJ case reports

Summary

journal-article

Apert Syndrome

Published by

Revista Consulta Medica

Summary

other

Diagnosis of Rare Diseases

Published by

Revista Consulta Medica

Summary

other

Genetic Heritage

Published by

Revista Consulta Medica

Summary

other

Dengue

Published by

Revista Consulta Medica

Summary

other

What Are Rare Diseases?

Published by

Revista Consulta Medica

Summary

other

Hypophosphatemic Rickets: Rare Diseases Series

Published by

“Haroldo Sanchez Sin Reservas”, Guatevision Television Network

Summary

lecture-speech

Turner syndrome

Published by

“Haroldo Sanchez Sin Reservas”, Guatevision Television Network

Summary

lecture-speech

Rare Diseases in Adults

Published by

Second International Meeting of Rare Diseases in Guatemala, Guatemalan College of Physicians and Surgeons

Summary

lecture-speech

Genetic Heritage

Published by

2013 International Rare Disease Day, Pan-American Hotel

Summary

lecture-speech

Minor Anomalies: How to Identify Them?

Published by

Rare Disease Project Presentation. Asociacion Para Todos, Gran Karmel Hotel

Summary

lecture-speech

José Andrés Morales Corado