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Fragile X syndrome: a review of associated medical problems

Pediatrics (Evanston), 2014-11, Vol.134 (5), p.995-1005

2014

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Causes of death in 184 patients with type 1 Gaucher disease from the United States who were never treated with enzyme replacement therapy

Blood cells, molecules, & diseases, 2018-02, Vol.68, p.211-217

2018

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MPV17‐related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects

Human mutation, 2018-04, Vol.39 (4), p.461-470

2018

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P370: Newborn screening for spinal muscular atrophy in South Florida: The clinical experience

Genetics in Medicine Open, 2023, Vol.1 (1), p.100398, Article 100398

2023

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Arnold‐Chiari type 1 malformation in Potocki–Lupski syndrome

American journal of medical genetics. Part A, 2019-07, Vol.179 (7), p.1366-1370

2019

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Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships

Orphanet journal of rare diseases, 2015-10, Vol.10 (1), p.131-131, Article 131

2015

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COVID‐19 in a child with severe propionic acidemia

Pediatrics international, 2021-05, Vol.63 (5), p.606-607

2021

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Adeno-associated virus-mediated gene therapy in a patient with Canavan disease using dual routes of administration and immune modulation

Molecular therapy. Methods & clinical development, 2023-09, Vol.30, p.303-314

2023

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P861: Newborn screening for Pompe disease in South Florida: The clinical experience

Genetics in Medicine Open, 2024, Vol.2, p.101775, Article 101775

2024

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P371: Initial evaluation of newborn screening for X-linked adrenoleukodystrophy in South Florida

Genetics in Medicine Open, 2023, Vol.1 (1), p.100399, Article 100399

2023

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Early-Onset Marfan Syndrome: A Case Series

Journal of pediatric genetics (Birmingham, Ala.), 2019-06, Vol.8 (2), p.086-090

2019

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AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission

Journal of neurodevelopmental disorders, 2014-07, Vol.6 (1), p.24-24, Article 24

2014

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Klinefelter Syndrome in Association with Tetralogy of Fallot and Congenital Diaphragmatic Hernia

Journal of pediatric genetics (Birmingham, Ala.), 2017-06, Vol.6 (2), p.115-117

2017

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Infantile Onset Hypertrophic Cardiomyopathy Secondary to PRKAG2 Gene Mutation is Associated with Poor Prognosis

Journal of pediatric genetics (Birmingham, Ala.), 2018-12, Vol.7 (4), p.180-184

2018

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ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia

JCI insight, 2024-02, Vol.9 (5)

2024

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Uniparental Disomy Causing Myoclonus Dystonia Associated with Russell Silver Syndrome

Movement disorders clinical practice (Hoboken, N.J.), 2019-06, Vol.6 (5), p.409-410

2019

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P136: Functional studies in ADAMTSL2-related geleophysic dysplasia provide insights into pathogenesis and potential treatment targets

Genetics in Medicine Open, 2023, Vol.1 (1), p.100165, Article 100165

2023

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P642: Diagnostic yield of multi-omics approach in Undiagnosed Diseases Network Miami clinical site

Genetics in Medicine Open, 2023, Vol.1 (1), p.100707, Article 100707

2023

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P121: Comparison of diagnostic outcome amongst different ethnic backgrounds in UDN participants at the University of Miami clinical site

Genetics in Medicine Open, 2023, Vol.1 (1), p.100150, Article 100150

2023

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Genotype-phenotype analysis of 4q deletion syndrome: Proposal of a critical region

American journal of medical genetics. Part A, 2012-09, Vol.158A (9), p.2139-2151

2012

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21 A Patient with a Complete STAT1 Deletion with Lymphopenia and Elevated Double Negative T Cells

Clinical immunology (Orlando, Fla.), 2024-05, Vol.262, p.109963, Article 109963

2024

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Macrocephaly‐Capillary Malformation: A Report of Three Cases and Review of the Literature

Pediatric dermatology, 2009-05, Vol.26 (3), p.342-346

2009

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Patient Management Problem

Continuum (Minneapolis, Minn.), 2011-04, Vol.17, p.402-406

2011

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Patient Management Problem-Preferred Responses

Continuum (Minneapolis, Minn.), 2011-04, Vol.17, p.407-416

2011

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Screening Newborns for Galactosemia Using Total Body Galactose Oxidation to CO2 in Expired Air

Pediatric research, 2007-12, Vol.62 (6), p.720-724

2007

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Fragile X syndrome: a review of associated medical problems

Causes of death in 184 patients with type 1 Gaucher disease from the United States who were never treated with enzyme replacement therapy

MPV17‐related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects

P370: Newborn screening for spinal muscular atrophy in South Florida: The clinical experience

Arnold‐Chiari type 1 malformation in Potocki–Lupski syndrome

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships

COVID‐19 in a child with severe propionic acidemia

Adeno-associated virus-mediated gene therapy in a patient with Canavan disease using dual routes of administration and immune modulation

P861: Newborn screening for Pompe disease in South Florida: The clinical experience

P371: Initial evaluation of newborn screening for X-linked adrenoleukodystrophy in South Florida

Early-Onset Marfan Syndrome: A Case Series

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission

Klinefelter Syndrome in Association with Tetralogy of Fallot and Congenital Diaphragmatic Hernia

Infantile Onset Hypertrophic Cardiomyopathy Secondary to PRKAG2 Gene Mutation is Associated with Poor Prognosis

ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia

Uniparental Disomy Causing Myoclonus Dystonia Associated with Russell Silver Syndrome

P136: Functional studies in ADAMTSL2-related geleophysic dysplasia provide insights into pathogenesis and potential treatment targets

P642: Diagnostic yield of multi-omics approach in Undiagnosed Diseases Network Miami clinical site

P121: Comparison of diagnostic outcome amongst different ethnic backgrounds in UDN participants at the University of Miami clinical site

Genotype-phenotype analysis of 4q deletion syndrome: Proposal of a critical region

21 A Patient with a Complete STAT1 Deletion with Lymphopenia and Elevated Double Negative T Cells

Macrocephaly‐Capillary Malformation: A Report of Three Cases and Review of the Literature

Patient Management Problem

Patient Management Problem-Preferred Responses

Screening Newborns for Galactosemia Using Total Body Galactose Oxidation to CO2 in Expired Air

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