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Biparental Inheritance of Mitochondrial DNA in Humans

Proceedings of the National Academy of Sciences - PNAS, 2018-12, Vol.115 (51), p.13039-13044

2018

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Sex differences in inflammation, redox biology, mitochondria and autoimmunity

Redox biology, 2020-04, Vol.31, p.101482, Article 101482

2020

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Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome

American journal of human genetics, 2018-04, Vol.102 (4), p.696-705

2018

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Physician interpretation of variants of uncertain significance

Familial cancer, 2019-01, Vol.18 (1), p.121-126

2019

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Importance of Family History in the Era of Exome Analysis: A Report of a Family with Multiple Concurrent Genetic Diseases

Human heredity, 2021-12, Vol.86 (1-4), p.28-33

2021

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The natural history of infantile neuroaxonal dystrophy

Orphanet journal of rare diseases, 2020-05, Vol.15 (1), p.109-109, Article 109

2020

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The infantile neuroaxonal dystrophy rating scale (INAD-RS)

Orphanet journal of rare diseases, 2020-07, Vol.15 (1), p.1-195, Article 195

2020

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Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

BMC medicine, 2021-08, Vol.19 (1), p.1-199, Article 199

2021

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A sleep modulated Channelopathy: a novel CACNA1A pathogenic variant identified in episodic Ataxia type 2 and a potential link to sleep alleviated migraine

BMC neurology, 2019-10, Vol.19 (1), p.246-246, Article 246

2019

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Molybdenum cofactor deficiency

Molecular genetics and metabolism, 2016-01, Vol.117 (1), p.1-4

2016

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Molecular characterization of known and novel ACVR1 variants in phenotypes of aberrant ossification

American journal of medical genetics. Part A, 2019-09, Vol.179 (9), p.1764-1777

2019

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Holocarboxylase synthetase deficiency pre and post newborn screening

Molecular genetics and metabolism reports, 2016-06, Vol.7 (C), p.40-44

2016

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Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency

Journal of human genetics, 2016-07, Vol.61 (7), p.669-672

2016

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Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

Molecular genetics and metabolism reports, 2016-09, Vol.8 (C), p.61-66

2016

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Only 20-25% Deuteration of Polyunsaturated Fatty Acids Prevents Lipid Peroxidation

Trends in molecular medicine, 2020-04, Vol.26 (4), p.351-352

2020

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Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement

Molecular genetics and metabolism reports, 2018-06, Vol.15, p.11-14

2018

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Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain

Biomolecules (Basel, Switzerland), 2020-09, Vol.10 (9), p.1314

2020

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Sex differences in comorbidities associated with Sjögren's disease

Frontiers in medicine, 2022-08, Vol.9, p.958670

2022

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Genomic Observations of a Rare/Pathogenic SMAD3 Variant in Loeys⁻Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations

Medicina (Kaunas, Lithuania), 2019-05, Vol.55 (5), p.137

2019

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Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm

Case reports in genetics, 2018, Vol.2018 (2018), p.1-4

2018

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Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction

Case reports in medicine, 2020, Vol.2020 (2020), p.1-7

2020

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Poirier–Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth

American journal of medical genetics. Part A, 2021-02, Vol.185 (2), p.539-543

2021

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REPLY TO ANNIS ET AL: Is quasi-Mendelian mtDNA competition enough to drive transmission of paternal mtDNA?

Proceedings of the National Academy of Sciences - PNAS, 2019-07, Vol.116 (30), p.14799-14800

2019

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Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families

Human genome variation, 2018-01, Vol.5 (1), p.15-5, Article 15

2018

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Biparental Inheritance of Mitochondrial DNA in Humans

Sex differences in inflammation, redox biology, mitochondria and autoimmunity

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome

Physician interpretation of variants of uncertain significance

Importance of Family History in the Era of Exome Analysis: A Report of a Family with Multiple Concurrent Genetic Diseases

The natural history of infantile neuroaxonal dystrophy

The infantile neuroaxonal dystrophy rating scale (INAD-RS)

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

A sleep modulated Channelopathy: a novel CACNA1A pathogenic variant identified in episodic Ataxia type 2 and a potential link to sleep alleviated migraine

Molybdenum cofactor deficiency

Molecular characterization of known and novel ACVR1 variants in phenotypes of aberrant ossification

Holocarboxylase synthetase deficiency pre and post newborn screening

Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

Only 20-25% Deuteration of Polyunsaturated Fatty Acids Prevents Lipid Peroxidation

Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement

Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain

Sex differences in comorbidities associated with Sjögren's disease

Genomic Observations of a Rare/Pathogenic SMAD3 Variant in Loeys⁻Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations

Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm

Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction

Poirier–Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth

REPLY TO ANNIS ET AL: Is quasi-Mendelian mtDNA competition enough to drive transmission of paternal mtDNA?

Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families

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