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Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype?
American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.223-227
2021
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Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB
Molecular genetics and metabolism, 2021-06, Vol.133 (2), p.193-200
2021
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Evaluation of biomarkers for Sanfilippo syndrome
Molecular genetics and metabolism, 2019-09, Vol.128 (1-2), p.68-74
2019
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Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction
Clinical case reports, 2022-02, Vol.10 (2), p.e05277-n/a
2022
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Natural history of echocardiographic abnormalities in mucopolysaccharidosis III
Molecular genetics and metabolism, 2018-06, Vol.124 (2), p.131-134
2018
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Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants
European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1405-1417
2021
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Expanding the spectrum of CEP55‐associated disease to viable phenotypes
American journal of medical genetics. Part A, 2020-05, Vol.182 (5), p.1201-1208
2020
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General anesthesia with a native airway for patients with mucopolysaccharidosis type III
Pediatric anesthesia, 2017-04, Vol.27 (4), p.370-376
2017
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Differential Prevalence of Antibodies Against Adeno-Associated Virus in Healthy Children and Patients with Mucopolysaccharidosis III: Perspective for AAV-Mediated Gene Therapy
Human gene therapy. Clinical development, 2017-12, Vol.28 (4), p.187
2017
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Interim results of Transpher A, a multicenter, single-dose clinical trial of UX111 gene therapy for Sanfilippo syndrome type A (mucopolysaccharidosis IIIA)
Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107101, Article 107101
2023
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eP203 - Updated results of Transpher A: multicenter, single-dose, phase 1/2 clinical trial of ABO-102 for Sanfilippo syndrome type A (mucopolysaccharidosis IIIA)
Molecular genetics and metabolism, 2021-04, Vol.132, p.S133-S134
2021
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eP214 - Updated results of Transpher B: multicenter, single-dose, phase 1/2 clinical trial of ABO-101 for Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)
Molecular genetics and metabolism, 2021-04, Vol.132, p.S139-S139
2021
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Updated results of Transpher A: multicenter, single-dose, phase 1/2 clinical trial of ABO-102 for Sanfilippo syndrome type A (mucopolysaccharidosis IIIA)
Molecular genetics and metabolism, 2021-04, Vol.132, p.S133-S134
2021
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Updated results of Transpher B: multicenter, single-dose, phase 1/2 clinical trial of ABO-101 for Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)
Molecular genetics and metabolism, 2021-04, Vol.132, p.S139
2021
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Interim results of Transpher A, a multicentre, single-dose, phase 1/2 clinical trial of ABO-102 investigational gene therapy for Sanfilippo syndrome type A (mucopolysaccharidosis IIIA)
Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S43-S43
2022
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Safety, tolerability and preliminary evidence of biopotency in Transpher B, a multicenter, single-dose, phase 1/2 clinical trial of ABO-101 gene therapy for Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)
Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.S107-S107
2020
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eP360 - Robust diagnostic yield and candidate gene discovery through paired exome analysis in vascular malformation and overgrowth
Molecular genetics and metabolism, 2021-04, Vol.132, p.S232-S232
2021
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Robust diagnostic yield and candidate gene discovery through paired exome analysis in vascular malformation and overgrowth
Molecular genetics and metabolism, 2021-04, Vol.132, p.S232
2021
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Interim results of Transpher A, a multicenter, single-dose, phase 1/2 clinical trial of ABO-102 gene therapy for Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA)
Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.S56-S57
2020
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eP420 - Evaluating the mutational spectrum of SIN3A alterations: a case series of patients profiled by next generation sequencing
Molecular genetics and metabolism, 2021-04, Vol.132, p.S271-S272
2021
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Evaluating the mutational spectrum of SIN3A alterations: a case series of patients profiled by next generation sequencing
Molecular genetics and metabolism, 2021-04, Vol.132, p.S271-S272
2021
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eP262 - Outcomes of in-house rapid genome sequencing at a Children’s Hospital
Molecular genetics and metabolism, 2021-04, Vol.132, p.S165-S166
2021
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Outcomes of in-house rapid genome sequencing at a Children’s Hospital
Molecular genetics and metabolism, 2021-04, Vol.132, p.S165-S166
2021
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Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers
JPGN reports, 2022-11, Vol.3 (4), p.e258-e258
2022
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Systemic gene transfer of scAAV9.U1a.hSGSH for MPS IIIA: tolerability and preliminary evidence for a biochemical effect
Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.S47-S47
2017
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