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| 37872713 | Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants. | | 2023 |
| 37681527 | A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease. | | 2023 |
| 37421366 | Early initiation of B-vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study. | | 2023 |
| 36961129 | Defects in lipid homeostasis reflect the function of TANGO2 in phospholipid and neutral lipid metabolism. | | 2023 |
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| 35934918 | Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain. | Am J Med Genet A | 2022 |
| 35914366 | Mitochondrial DNA maintenance defects: potential therapeutic strategies. | Mol Genet Metab | 2022 |
| 35691983 | Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias. | Eur J Hum Genet | 2022 |
| 35568137 | Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises. | Heart Rhythm | 2022 |
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| 33580568 | Health-related quality of life in adults with osteogenesis imperfecta. | Clin Genet | 2021 |
| 33369125 | Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1. | American Journal of Medical Genetics, Part A | 2021 |
| 34061437 | A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature. | American Journal of Medical Genetics, Part A | 2021 |
| 33958751 | Correction: A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers. | Genetics in Medicine | 2021 |
| 32233023 | Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. | Am J Med Genet A | 2020 |
| 32730804 | Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing. | Am J Hum Genet | 2020 |
| 32692472 | A novel CACNA1A variant in a child with early stroke and intractable epilepsy. | Mol Genet Genomic Med | 2020 |
| 32449285 | Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes. | Am J Med Genet A | 2020 |
| 31520464 | Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease. | American Journal of Medical Genetics, Part A | 2019 |
| 30992551 | Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy. | Genet Med | 2019 |
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| 31579823 | Disruptive variants of <i>CSDE1</i> associate with autism and interfere with neuronal development and synaptic transmission. | Sci Adv | 2019 |
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| 30172441 | Copy Number Variants of Undetermined Significance Are Not Associated with Worse Clinical Outcomes in Hypoplastic Left Heart Syndrome. | J Pediatr | 2018 |
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| 28973083 | Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. | JAMA Pediatr | 2017 |
| 28653806 | Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events. | Am J Med Genet A | 2017 |
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| 28299356 | An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a <i>TUBB3</i> mutation. | Cold Spring Harb Mol Case Stud | 2017 |
| 28275102 | Plasma Glutamine Is a Minor Precursor for the Synthesis of Citrulline: A Multispecies Study. | Journal of Nutrition | 2017 |
| 27550220 | Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO. | J Med Genet | 2017 |
| 26805781 | Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. | Am J Hum Genet | 2016 |
| 27616478 | Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. | Am J Hum Genet | 2016 |
| 27385961 | Cytogenomic Aberrations in Congenital Cardiovascular Malformations. | Molecular Syndromology | 2016 |
| 26965164 | A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20. | Hum Mol Genet | 2016 |
| 26637980 | De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. | Am J Hum Genet | 2015 |
| 26070612 | De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations. | Orphanet J Rare Dis | 2015 |
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