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Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience

The Journal of pediatrics, 2017-11, Vol.190, p.130-135

2017

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Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial

The Lancet (British edition), 2014-07, Vol.384 (9937), p.37-44

2014

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Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease

American journal of human genetics, 2017-01, Vol.100 (1), p.21-30

2017

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A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome

American journal of human genetics, 2016-06, Vol.98 (6), p.1256-1265

2016

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Cantú Syndrome Is Caused by Mutations in ABCC9

American journal of human genetics, 2012-06, Vol.90 (6), p.1094-1101

2012

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Phenotypic expansion of KMT2D‐related disorder: Beyond Kabuki syndrome

American journal of medical genetics. Part A, 2020-05, Vol.182 (5), p.1053-1065

2020

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Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature

European journal of human genetics : EJHG, 2018-09, Vol.26 (9), p.1272-1281

2018

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A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex

American journal of human genetics, 2016-05, Vol.98 (5), p.909-918

2016

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A Unique High-Output Cardiac Hypertrophy Phenotype Arising From Low Systemic Vascular Resistance in Cantu Syndrome

Journal of the American Heart Association, 2022-12, Vol.11 (24), p.e027363-e027363

2022

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De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

American journal of medical genetics. Part A, 2010-10, Vol.152A (10), p.2437-2443

2010

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Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia

Genes, 2023-01, Vol.14 (1), p.153

2023

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White and gray matter brain development in children and young adults with phenylketonuria

NeuroImage clinical, 2019-01, Vol.23, p.101916-101916, Article 101916

2019

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Continuous Renal Replacement Therapy for Two Neonates With Hyperammonemia

Frontiers in pediatrics, 2021-11, Vol.9, p.732354-732354

2021

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KATP Channels and Cardiovascular Disease: Suddenly a Syndrome

Circulation research, 2013-03, Vol.112 (7), p.1059-1072

2013

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PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations

JIMD reports, 2023-11, Vol.64 (6), p.424-433

2023

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Myhre syndrome: Clinical features and restrictive cardiopulmonary complications

American journal of medical genetics. Part A, 2015-12, Vol.167A (12), p.2893-2901

2015

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Electrophysiologic consequences of KATP gain of function in the heart: Conduction abnormalities in Cantu syndrome

Heart rhythm, 2015-11, Vol.12 (11), p.2316-2324

2015

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Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency

JIMD reports, 2023-09, Vol.64 (5), p.367-374

2023

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Postmortem diagnosis of very long chain acyl‐CoA dehydrogenase (VLCAD) deficiency in a neonate with sudden cardiac death

JIMD reports, 2023-07, Vol.64 (4), p.261-264

2023

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Kir6.1- and SUR2-dependent KATP overactivity disrupts intestinal motility in murine models of Cantú syndrome

JCI insight, 2020-12, Vol.5 (23)

2020

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Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants

International journal of neonatal screening, 2020-03, Vol.6 (1), p.4-4

2020

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A 3-Year-Old Girl with Acute Liver Failure and Status Epilepticus

Clinical chemistry (Baltimore, Md.), 2022-11, Vol.68 (11), p.1471-1474

2022

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Fatal COVID‐19 infection in a patient with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: A case report

JIMD reports, 2020-11, Vol.56 (1), p.40-45

2020

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Distinct Clinical and Histopathological Presentations of Danon Cardiomyopathy in Young Women

Journal of the American College of Cardiology, 2010-01, Vol.55 (4), p.408-410

2010

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Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience

Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial

Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome

Cantú Syndrome Is Caused by Mutations in ABCC9

Phenotypic expansion of KMT2D‐related disorder: Beyond Kabuki syndrome

Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature

A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex

A Unique High-Output Cardiac Hypertrophy Phenotype Arising From Low Systemic Vascular Resistance in Cantu Syndrome

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

Efficacy of Sapropterin Dihydrochloride in Increasing Phenylalanine Tolerance in Children with Phenylketonuria: A Phase III, Randomized, Double-Blind, Placebo-Controlled Study

Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia

White and gray matter brain development in children and young adults with phenylketonuria

Continuous Renal Replacement Therapy for Two Neonates With Hyperammonemia

KATP Channels and Cardiovascular Disease: Suddenly a Syndrome

PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations

Myhre syndrome: Clinical features and restrictive cardiopulmonary complications

Electrophysiologic consequences of KATP gain of function in the heart: Conduction abnormalities in Cantu syndrome

Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency

Postmortem diagnosis of very long chain acyl‐CoA dehydrogenase (VLCAD) deficiency in a neonate with sudden cardiac death

Kir6.1- and SUR2-dependent KATP overactivity disrupts intestinal motility in murine models of Cantú syndrome

Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants

A 3-Year-Old Girl with Acute Liver Failure and Status Epilepticus

Fatal COVID‐19 infection in a patient with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: A case report

Distinct Clinical and Histopathological Presentations of Danon Cardiomyopathy in Young Women

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