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| 36200388 | Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects. | Brain | 2023 |
| 37990697 | Lack of Methylation Changes in and Non-coding Regions of Cochlear Implant Patients with Sensorineural Hearing Loss. | | 2023 |
| 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 |
| 37673932 | Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return. | Eur J Hum Genet | 2023 |
| 37517035 | Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. | Brain | 2023 |
| 37467750 | Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. | Am J Hum Genet | 2023 |
| 35218524 | Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development. | Cerebellum | 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 |
| 37316189 | Dominant negative variants in <i>IKZF2</i> cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay. | J Med Genet | 2023 |
| 36550018 | B-complex vitamins for patients with TANGO2-deficiency disorder. | | 2023 |
| 36473599 | Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients. | Genet Med | 2023 |
| 36229919 | Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum. | Human Molecular Genetics | 2023 |
| 34906496 | Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies. | Genet Med | 2022 |
| 36065636 | Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis. | Am J Med Genet A | 2022 |
| 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 |
| 33461977 | Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH. | Journal of Medical Genetics | 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 |
| 35362179 | The germline p53 activation syndrome: A new patient further refines the clinical phenotype. | Am J Med Genet A | 2022 |
| 35361529 | Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay. | Mol Genet Metab | 2022 |
| 35231119 | Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient. | Brain | 2022 |
| 35194938 | PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature. | American Journal of Medical Genetics, Part A | 2022 |
| 35188328 | LMOD2-related dilated cardiomyopathy presenting in late infancy. | Am J Med Genet A | 2022 |
| 35094443 | Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. | Hum Mutat | 2022 |
| 33748114 | Variants Associated With X-Linked Intellectual Disability and Congenital Malformation. | Frontiers in Cell and Developmental Biology | 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 |
| 33963760 | PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy. | Clin Genet | 2021 |
| 33824499 | Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities. | Genet Med | 2021 |
| 31804630 | A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder. | European Journal of Human Genetics | 2020 |
| 33425822 | Corrigendum: Overgrowth Syndromes-Evaluation, Diagnosis, and Management. | Frontiers in Pediatrics | 2020 |
| 33194904 | Overgrowth Syndromes-Evaluation, Diagnosis, and Management. | Frontiers in Pediatrics | 2020 |
| 32885560 | Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case report. | American Journal of Medical Genetics, Part 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 |
| 32621963 | An Analysis of Hospital Mortality After Cardiac Operations in Children With Down Syndrome. | Semin Thorac Cardiovasc Surg | 2020 |
| 32449285 | Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes. | Am J Med Genet A | 2020 |
| 32387503 | Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings. | Genomics | 2020 |
| 32336750 | Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions. | Genet Med | 2020 |
| 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 |
| 32082103 | Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. | Front Neurosci | 2020 |
| 31999386 | BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder. | Hum Mutat | 2020 |
| 31909881 | Other genomic disorders and congenital heart disease. | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2020 |
| 31879022 | ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. | Am J Hum Genet | 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 |
| 31216405 | Reanalysis of Clinical Exome Sequencing Data. | N Engl J Med | 2019 |
| 31192300 | Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes. | Neurol Genet | 2019 |
| 31101064 | Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. | Genome Med | 2019 |
| 31069960 | Review of the phenotypic spectrum associated with haploinsufficiency of MYRF. | Am J Med Genet A | 2019 |