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Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study
Orphanet journal of rare diseases, 2020-11, Vol.15 (1), p.336-336, Article 336
2020
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Raine syndrome: Prenatally identified severe craniofacial phenotype with multisuture synostosis and brain abnormalities associated with variants in FAM20C
Prenatal diagnosis, 2024-03, Vol.44 (3), p.369-372
2024
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Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome
JIM - high impact case reports, 2022, Vol.10, p.23247096221101844-23247096221101844
2022
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Points to consider to avoid unfair discrimination and the misuse of genetic information: A statement of the American College of Medical Genetics and Genomics (ACMG)
Genetics in medicine, 2022-03, Vol.24 (3), p.512-520
2022
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ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis
Genetics in medicine, 2019-07, Vol.21 (7), p.1585-1593
2019
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Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Genetics in medicine, 2023-06, Vol.25 (6), p.100812-100812, Article 100812
2023
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Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome
American journal of medical genetics. Part A, 2023-04, Vol.191 (4), p.977-982
2023
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Clinical and molecular characterization of five new individuals with WAC‐related intellectual disability: Evidence of pathogenicity for a novel splicing variant
American journal of medical genetics. Part A, 2022-05, Vol.188 (5), p.1396-1406
2022
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Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions
Prenatal diagnosis, 2024-02, Vol.44 (2), p.237-246
2024
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DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency
Genetics in medicine, 2023-01, Vol.25 (1), p.63-75
2023
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Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies
American journal of medical genetics. Part A, 2021-05, Vol.185 (5), p.1486-1493
2021
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Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder
JIM - high impact case reports, 2023-01, Vol.11, p.23247096231154438-23247096231154438
2023
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SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss
Orphanet journal of rare diseases, 2016-09, Vol.11 (1), p.130-130, Article 130
2016
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Raine syndrome: Prenatally identified severe craniofacial phenotype with multisuture synostosis and brain abnormalities associated with variants in FAM2 0C
Prenatal diagnosis, 2024-03, Vol.44 (3), p.369-372
2024
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Very Early-Onset Schizophrenia in a Six-Year-Old Boy
American journal of psychiatry residents' journal, 2017-02, Vol.12 (2), p.9-11
2017
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Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder
JIM - high impact case reports, 2023-02, Vol.11
2023
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Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder
Genetics in medicine, 2022-08, Vol.24 (8), p.1774-1780
2022
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Altered expression of myocilin in the brain of a mouse model for phenylketonuria (PKU)
Neuroscience letters, 2005-07, Vol.382 (3), p.323-326
2005
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