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Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations

Pediatric neurology, 2021-10, Vol.123, p.50-66

2021

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The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case report

American journal of medical genetics. Part A, 2021-11, Vol.185 (11), p.3510-3516

2021

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NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent

American journal of medical genetics. Part A, 2022-06, Vol.188 (6), p.1688-1692

2022

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Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers

Orphanet journal of rare diseases, 2023-06, Vol.18 (1), p.139-139, Article 139

2023

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The utilization of prenatal microarray: A survey of current genetic counseling practices and barriers

Prenatal diagnosis, 2019-04, Vol.39 (5), p.351-360

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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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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Congenital heart defects and copy number variants associated with neurodevelopmental impairment

American journal of medical genetics. Part A, 2022-01, Vol.188 (1), p.13-23

2022

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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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Current genetic counseling practice in the United States following positive non‐invasive prenatal testing for sex chromosome abnormalities

Journal of genetic counseling, 2019-08, Vol.28 (4), p.802-811

2019

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Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs

Nutrients, 2021-10, Vol.13 (11), p.3828

2021

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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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Arginase deficiency masked by cerebral palsy and coagulopathy—Three varied presentations of Latin American origin

JIMD reports, 2023-11, Vol.64 (6), p.434-439

2023

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Laparoscopic ovarian tissue harvesting for cryopreservation from a child with galactosemia

Fertility and sterility, 2022-11, Vol.118 (5), p.982-984

2022

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Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature

European journal of medical genetics, 2017-06, Vol.60 (6), p.285-288

2017

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Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

American journal of human genetics, 2018-03, Vol.102 (3), p.487-493

2018

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P062: A case of ornithine transcarbamylase deficiency

Genetics in Medicine Open, 2024, Vol.2, p.100939, Article 100939

2024

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Frequency of sex chromosome involvement in a large cohort of subjects with two copy number variants (CNVs)

Cytogenetic and genome research, 2023-05, Vol.162 (11-12), p.599-608

2023

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P305: Dual diagnoses of mosaic SRY deletion and HSD17B3 deficiency in a patient with discordant fetal sex

Genetics in Medicine Open, 2023, Vol.1 (1), p.100333, Article 100333

2023

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Sodium/Iodide Symporter Mutant V270E Causes Stunted Growth but No Cognitive Deficiency

The journal of clinical endocrinology and metabolism, 2015-10, Vol.100 (10), p.E1353-E1361

2015

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Route of delivery does not impact postnatal surgical morbidity in pregnancies affected by fetal achondroplasia

Genetics in medicine, 2023-07, Vol.25 (7), p.100845, Article 100845

2023

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Marshall-Smith Syndrome: Novel pathogenic variant and previously unreported associations with precocious puberty and aortic root dilatation

European journal of medical genetics, 2017-07, Vol.60 (7), p.391-394

2017

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P017: Donor organ failure: The importance of donor heterozygosity in a case of primary hyperoxaluria type 1

Genetics in Medicine Open, 2023, Vol.1 (1), p.100027, Article 100027

2023

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P284: Clinical overlap in two patients with 46,XY DSD and limb abnormalities with identical variant in candidate gene LHX9

Genetics in Medicine Open, 2024, Vol.2, p.101180, Article 101180

2024

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Achondroplasia Natural History Study (CLARITY): 60-year experience with hydrocephalus in achondroplasia from four skeletal dysplasia centers

Journal of neurosurgery. Pediatrics, 2023-12, Vol.32 (6), p.649

2023

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Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations

The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case report

NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent

Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers

The utilization of prenatal microarray: A survey of current genetic counseling practices and barriers

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

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

Congenital heart defects and copy number variants associated with neurodevelopmental impairment

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

Current genetic counseling practice in the United States following positive non‐invasive prenatal testing for sex chromosome abnormalities

Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs

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

Arginase deficiency masked by cerebral palsy and coagulopathy—Three varied presentations of Latin American origin

Laparoscopic ovarian tissue harvesting for cryopreservation from a child with galactosemia

Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

P062: A case of ornithine transcarbamylase deficiency

Frequency of sex chromosome involvement in a large cohort of subjects with two copy number variants (CNVs)

P305: Dual diagnoses of mosaic SRY deletion and HSD17B3 deficiency in a patient with discordant fetal sex

Sodium/Iodide Symporter Mutant V270E Causes Stunted Growth but No Cognitive Deficiency

Route of delivery does not impact postnatal surgical morbidity in pregnancies affected by fetal achondroplasia

Marshall-Smith Syndrome: Novel pathogenic variant and previously unreported associations with precocious puberty and aortic root dilatation

P017: Donor organ failure: The importance of donor heterozygosity in a case of primary hyperoxaluria type 1

P284: Clinical overlap in two patients with 46,XY DSD and limb abnormalities with identical variant in candidate gene LHX9

Achondroplasia Natural History Study (CLARITY): 60-year experience with hydrocephalus in achondroplasia from four skeletal dysplasia centers

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