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Current state of the art in treatment of Mendelian disease: Skeletal dysplasias

American journal of medical genetics. Part A, 2021-11, Vol.185 (11), p.3359-3368

Hoover‐Fong, Julie

2021

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TELO2‐related syndrome (You‐Hoover‐Fong syndrome): Description of 14 new affected individuals and review of the literature

American journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1261-1272

2023

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Otolaryngology Utilization in Patients With Achondroplasia: Results From the CLARITY Study

The Laryngoscope, 2022-08, Vol.132 (8), p.1548-1554

2022

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A height‐for‐age growth reference for children with achondroplasia: Expanded applications and comparison with original reference data

American journal of medical genetics. Part A, 2017-05, Vol.173 (5), p.1226-1230

2017

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Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

PLoS genetics, 2010-05, Vol.6 (6), p.e1000991-e1000991

2010

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Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2

American journal of medical genetics. Part A, 2019-03, Vol.179 (3), p.410-416

2019

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CLARITY: Co‐occurrences in achondroplasia—craniosynostosis, seizures, and decreased risk of diabetes mellitus

American journal of medical genetics. Part A, 2021-04, Vol.185 (4), p.1168-1174

2021

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Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1

Human mutation, 2009-03, Vol.30 (3), p.379-390

2009

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Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States

Genetics in medicine, 2021-08, Vol.23 (8), p.1498-1505

2021

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Blood pressure in adults with short stature skeletal dysplasias

American journal of medical genetics. Part A, 2020-01, Vol.182 (1), p.150-161

2020

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Identification of STAC3 variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome

American journal of medical genetics. Part A, 2017-10, Vol.173 (10), p.2763-2771

2017

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Best practices in peri‐operative management of patients with skeletal dysplasias

American journal of medical genetics. Part A, 2017-10, Vol.173 (10), p.2584-2595

2017

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Multicenter study of mortality in achondroplasia

American journal of medical genetics. Part A, 2018-11, Vol.176 (11), p.2359-2364

2018

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PhenoDB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features

Human mutation, 2013-04, Vol.34 (4), p.566-571

2013

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Prenatal diagnosis of Desbuquois dysplasia Type 1: Utilization of high‐density SNP array to map homozygosity and identify the gene

American journal of medical genetics. Part A, 2019-12, Vol.179 (12), p.2490-2493

2019

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Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy

American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.77-86

2016

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Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US

Orphanet journal of rare diseases, 2021-12, Vol.16 (1), p.522-522, Article 522

2021

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Experiences of children and adolescents living with achondroplasia and their caregivers

Molecular genetics & genomic medicine, 2022-04, Vol.10 (4), p.e1891-n/a

2022

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The characterization of twenty sequenced human genomes

PLoS genetics, 2010-09, Vol.6 (9), p.e1001111

2010

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Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder

Autism research, 2020-07, Vol.13 (7), p.1227-1238

2020

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Not just a carrier: Clinical presentation and management of patients with heterozygous disease‐causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening

Molecular genetics & genomic medicine, 2023-01, Vol.11 (1), p.e2056-n/a

2023

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Hearing loss in skeletal dysplasia patients

American journal of medical genetics. Part A, 2012-07, Vol.158A (7), p.1551-1555

2012

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P420: Novel SLC26A2 variants in two adults with autosomal recessive multiple epiphyseal dysplasia type 4: Informed by genotype-phenotype correlation

Genetics in Medicine Open, 2024, Vol.2, p.101314, Article 101314

2024

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Body mass index (BMI): The case for condition-specific cut-offs for overweight and obesity in skeletal dysplasias

American journal of medical genetics. Part A, 2013-08, Vol.161A (8), p.2110-2112

2013

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Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history

Bone (New York, N.Y.), 2021-05, Vol.146, p.115872-115872, Article 115872

2021

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Current state of the art in treatment of Mendelian disease: Skeletal dysplasias

TELO2‐related syndrome (You‐Hoover‐Fong syndrome): Description of 14 new affected individuals and review of the literature

Otolaryngology Utilization in Patients With Achondroplasia: Results From the CLARITY Study

A height‐for‐age growth reference for children with achondroplasia: Expanded applications and comparison with original reference data

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2

CLARITY: Co‐occurrences in achondroplasia—craniosynostosis, seizures, and decreased risk of diabetes mellitus

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1

Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States

Blood pressure in adults with short stature skeletal dysplasias

Identification of STAC3 variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome

Best practices in peri‐operative management of patients with skeletal dysplasias

Multicenter study of mortality in achondroplasia

PhenoDB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features

Prenatal diagnosis of Desbuquois dysplasia Type 1: Utilization of high‐density SNP array to map homozygosity and identify the gene

Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy

Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US

Experiences of children and adolescents living with achondroplasia and their caregivers

The characterization of twenty sequenced human genomes

Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder

Not just a carrier: Clinical presentation and management of patients with heterozygous disease‐causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening

Hearing loss in skeletal dysplasia patients

P420: Novel SLC26A2 variants in two adults with autosomal recessive multiple epiphyseal dysplasia type 4: Informed by genotype-phenotype correlation

Body mass index (BMI): The case for condition-specific cut-offs for overweight and obesity in skeletal dysplasias

Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history

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