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Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

Nature communications, 2021-02, Vol.12 (1), p.833-13, Article 833

2021

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Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

Genetics in medicine, 2021-06, Vol.23 (6), p.1065-1074

2021

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MYO5B Pathogenic Variants Found to Cause Intestinal Symptoms Without Microvillus Inclusion Disease in a Child Who Previously Underwent Liver Transplantation for PFIC‐like Cholestasis

Journal of pediatric gastroenterology and nutrition, 2021-01, Vol.72 (1), p.e22-e24

2021

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Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure

American journal of respiratory cell and molecular biology, 2024-01, Vol.70 (1), p.78

2024

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Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B

CEN case reports, 2021-08, Vol.10 (3), p.378-382

2021

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P225: SINO syndrome associated with heterozygous KIDINS220 variants: A more severe presentation and maternal mosaicism

Genetics in Medicine Open, 2023, Vol.1 (1), p.100253, Article 100253

2023

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MFSD7c functions as a transporter of choline at the blood-brain barrier

Cell research, 2024-03, Vol.34 (3), p.245-257

2024

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De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features

American journal of human genetics, 2024-04, Vol.111 (4), p.742-760

2024

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Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants

Human mutation, 2018-12, Vol.39 (12), p.1875-1884

2018

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Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses

American journal of medical genetics. Part A, 2021-02, Vol.185 (2), p.544-548

2021

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Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

Genetics in medicine, 2021-11, Vol.23 (11), p.2228-2228

2021

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Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant

Molecular genetics and metabolism reports, 2021-06, Vol.27, p.100747, Article 100747

2021

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De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy

Genetics in medicine, 2020-08, Vol.22 (8), p.1413-1417

2020

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eP015: COQ5 compound heterozygous variants in a family with global developmental delay, seizures, spastic paraparesis, and stroke

Genetics in medicine, 2022-03, Vol.24 (3), p.S11-S11

2022

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Confirmation of Xp22.11 Duplication as a Germline Susceptibility Alteration in a Wilms Tumor Arising in Horseshoe Kidney

Fetal and pediatric pathology, 2022-07, Vol.41 (4), p.1-688

2022

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De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder

HGG advances, 2023-07, Vol.4 (3), p.100198, Article 100198

2023

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Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behavior

HGG advances, 2024-10, Vol.5 (4), p.100333, Article 100333

2024

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Infantile-onset Pompe disease complicated by sickle cell anemia: Case report and management considerations

Frontiers in pediatrics, 2022-09, Vol.10

2022

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PTPN4 germline variants result in aberrant neurodevelopment and growth

HGG advances, 2021-07, Vol.2 (3), p.100033, Article 100033

2021

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MALE  DISORDER WITH NEUROLOGIC DEFECTS: IS METABOLIC TESTING ENOUGH FOR VARIANT RECLASSIFICATION?

Molecular genetics and metabolism, 2023-03, Vol.138 (3), p.107407, Article 107407

2023

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MALE EBP DISORDER WITH NEUROLOGIC DEFECTS: IS METABOLIC TESTING ENOUGH FOR VARIANT RECLASSIFICATION?

Molecular genetics and metabolism, 2023-03, Vol.138 (3)

2023

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Early Onset and Severe Clinical Course Associated with the m.5540G>A Mutation in MT-TW

Molecular genetics and metabolism reports, 2014, Vol.1 (C), p.61-65

2014

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Treatment dilemmas in an individual diagnosed with infantile-onset Pompe disease and sickle-cell anemia

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S116-S116

2022

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Intrahepatic Cholestasis, Refractory Epilepsy, Skeletal Dysplasia, Endocrine Failure, and Dysmorphic Features in a Child With a Monoallelic 2q24-32.2 Deletion Encompassing ABCB11

Pediatric and developmental pathology, 2022-03, Vol.25 (2), p.174-179

2022

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Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

MYO5B Pathogenic Variants Found to Cause Intestinal Symptoms Without Microvillus Inclusion Disease in a Child Who Previously Underwent Liver Transplantation for PFIC‐like Cholestasis

Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure

Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B

P225: SINO syndrome associated with heterozygous KIDINS220 variants: A more severe presentation and maternal mosaicism

MFSD7c functions as a transporter of choline at the blood-brain barrier

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features

Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants

Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses

Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy

eP015: COQ5 compound heterozygous variants in a family with global developmental delay, seizures, spastic paraparesis, and stroke

Heterozygous HMGB1 loss‐of‐function variants are associated with developmental delay and microcephaly

Confirmation of Xp22.11 Duplication as a Germline Susceptibility Alteration in a Wilms Tumor Arising in Horseshoe Kidney

De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder

Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behavior

Infantile-onset Pompe disease complicated by sickle cell anemia: Case report and management considerations

PTPN4 germline variants result in aberrant neurodevelopment and growth

MALE  DISORDER WITH NEUROLOGIC DEFECTS: IS METABOLIC TESTING ENOUGH FOR VARIANT RECLASSIFICATION?

MALE EBP DISORDER WITH NEUROLOGIC DEFECTS: IS METABOLIC TESTING ENOUGH FOR VARIANT RECLASSIFICATION?

Early Onset and Severe Clinical Course Associated with the m.5540G>A Mutation in MT-TW

Treatment dilemmas in an individual diagnosed with infantile-onset Pompe disease and sickle-cell anemia

Intrahepatic Cholestasis, Refractory Epilepsy, Skeletal Dysplasia, Endocrine Failure, and Dysmorphic Features in a Child With a Monoallelic 2q24-32.2 Deletion Encompassing ABCB11

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