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The progression of Wiedemann–Steiner syndrome in adulthood and two novel variants in the KMT2A gene

American journal of medical genetics. Part A, 2019-02, Vol.179 (2), p.300-305

2019

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The impact of clinical genome sequencing in a global population with suspected rare genetic disease

American journal of human genetics, 2024-07, Vol.111 (7), p.1271-1281

2024

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Compound heterozygous mutations in desmoplakin associated with skin fragility, follicular hyperkeratosis, alopecia, and nail dystrophy

Pediatric dermatology, 2018-07, Vol.35 (4), p.e218-e220

2018

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Palynziq clinic: One year and 43 patients later

Molecular genetics and metabolism, 2021-07, Vol.133 (3), p.250-256

2021

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Real-world treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: Evidence from dispensing data

Molecular genetics and metabolism reports, 2022-12, Vol.33, p.100918-100918, Article 100918

2022

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P001: Outcomes In 14 live births resulting from pegvaliase-treated pregnancies in females with PKU

Genetics in Medicine Open, 2024, Vol.2, p.100878, Article 100878

2024

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P012: Pegtibatinase, an investigational enzyme replacement therapy for the treatment of classical homocystinuria: Latest findings from the COMPOSE phase 1/2 trial

Genetics in Medicine Open, 2024, Vol.2, p.100889, Article 100889

2024

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Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics

Molecular genetics and metabolism reports, 2021-09, Vol.28, p.100790-100790, Article 100790

2021

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Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling

Molecular cytogenetics, 2018-03, Vol.11 (1), p.23-9, Article 23

2018

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Survival of a Male Infant with a Familial Xp11.4 Deletion Causing Ornithine Transcarbamylase Deficiency

JIMD Reports, Volume 45, 2019, Vol.45, p.83-87

2019

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IS IT TIME TO MOVE BEYOND ACYLCARNITINE PROFILES? LESSONS FROM THE CLINICAL APPLICATION OF A HIGH-DEFINITION LC-MS/MS ACYLCARNITINE METHOD

Molecular genetics and metabolism, 2022-04, Vol.135 (4), p.284-284

2022

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OP006: Is it time to move beyond acylcarnitine profiles? Lessons from the clinical application of a high-definition LC-MS/MS acylcarnitine method

Genetics in medicine, 2022-03, Vol.24 (3), p.S336-S337

2022

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Latest results from the COMPOSE® Phase 1/2 trial for the treatment of classical homocystinuria (HCU) using pegtibatinase, a novel investigational enzyme replacement therapy

Molecular genetics and metabolism, 2024-04, Vol.141 (4), p.108314, Article 108314

2024

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eP143 - Deletion of SMC3 in an individual with heart defects and syndromic features: is haploinsufficiency an unrecognized disease mechanism?

Molecular genetics and metabolism, 2021-04, Vol.132, p.S96-S96

2021

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Deletion of SMC3 in an individual with heart defects and syndromic features: is haploinsufficiency an unrecognized disease mechanism?

Molecular genetics and metabolism, 2021-04, Vol.132, p.S96

2021

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Relationship satisfaction in adults with phenylketonuria is positively associated with following recommended treatment, having a partner involved in management, and maintaining good health

Journal of community genetics, 2023-12, Vol.14 (6), p.627-638

2023

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Efficacy and safety of oral sepiapterin in participants with phenylketonuria on sapropterin dihydrochloride at time of Phase 3 aphenity study entry

Molecular genetics and metabolism, 2024-04, Vol.141 (4), p.108277, Article 108277

2024

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Lessons learned from 5-years of experience with pegvaliase in US clinics: A case series

Molecular genetics and metabolism, 2024-04, Vol.141 (4), p.108304, Article 108304

2024

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Outcomes in 14 live births resulting from Pegvaliase-treated pregnancies in PKU-affected females

Molecular genetics and metabolism, 2024-03, Vol.141 (3), p.108152-108152, Article 108152

2024

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Diazoxide Choline Extended-Release Tablet in People With Prader-Willi Syndrome: A Double-Blind, Placebo-Controlled Trial

The journal of clinical endocrinology and metabolism, 2023-07, Vol.108 (7), p.1676-1685

2023

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PEGTIBATINASE, AN INVESTIGATIONAL ENZYME REPLACEMENT THERAPY FOR THE TREATMENT OF CLASSICAL HOMOCYSTINURIA: INITIAL RESULTS FROM THE PHASE 1/2 COMPOSE STUDY

Molecular genetics and metabolism, 2022-04, Vol.135 (4), p.283-284

2022

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eP118: Connective tissue disorders not otherwise specified: Defining the problem

Genetics in medicine, 2022-03, Vol.24 (3), p.S74-S74

2022

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Perceived barriers to paternal expanded carrier screening following a positive maternal result: To screen or not to screen

Journal of genetic counseling, 2021-04, Vol.30 (2), p.470-477

2021

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Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial

The Lancet (British edition), 2024-10, Vol.404 (10460), p.1333-1345

2024

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The progression of Wiedemann–Steiner syndrome in adulthood and two novel variants in the KMT2A gene

The impact of clinical genome sequencing in a global population with suspected rare genetic disease

Compound heterozygous mutations in desmoplakin associated with skin fragility, follicular hyperkeratosis, alopecia, and nail dystrophy

Palynziq clinic: One year and 43 patients later

Real-world treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: Evidence from dispensing data

P001: Outcomes In 14 live births resulting from pegvaliase-treated pregnancies in females with PKU

P012: Pegtibatinase, an investigational enzyme replacement therapy for the treatment of classical homocystinuria: Latest findings from the COMPOSE phase 1/2 trial

Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics

Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling

O38: The impact of whole genome sequencing in a diverse global population of genetic disease patients

Survival of a Male Infant with a Familial Xp11.4 Deletion Causing Ornithine Transcarbamylase Deficiency

IS IT TIME TO MOVE BEYOND ACYLCARNITINE PROFILES? LESSONS FROM THE CLINICAL APPLICATION OF A HIGH-DEFINITION LC-MS/MS ACYLCARNITINE METHOD

OP006: Is it time to move beyond acylcarnitine profiles? Lessons from the clinical application of a high-definition LC-MS/MS acylcarnitine method

Latest results from the COMPOSE® Phase 1/2 trial for the treatment of classical homocystinuria (HCU) using pegtibatinase, a novel investigational enzyme replacement therapy

eP143 - Deletion of SMC3 in an individual with heart defects and syndromic features: is haploinsufficiency an unrecognized disease mechanism?

Deletion of SMC3 in an individual with heart defects and syndromic features: is haploinsufficiency an unrecognized disease mechanism?

Relationship satisfaction in adults with phenylketonuria is positively associated with following recommended treatment, having a partner involved in management, and maintaining good health

Efficacy and safety of oral sepiapterin in participants with phenylketonuria on sapropterin dihydrochloride at time of Phase 3 aphenity study entry

Lessons learned from 5-years of experience with pegvaliase in US clinics: A case series

Outcomes in 14 live births resulting from Pegvaliase-treated pregnancies in PKU-affected females

Diazoxide Choline Extended-Release Tablet in People With Prader-Willi Syndrome: A Double-Blind, Placebo-Controlled Trial

PEGTIBATINASE, AN INVESTIGATIONAL ENZYME REPLACEMENT THERAPY FOR THE TREATMENT OF CLASSICAL HOMOCYSTINURIA: INITIAL RESULTS FROM THE PHASE 1/2 COMPOSE STUDY

eP118: Connective tissue disorders not otherwise specified: Defining the problem

Perceived barriers to paternal expanded carrier screening following a positive maternal result: To screen or not to screen

Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial

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