Maya Chopra

Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry. Clin Genet. 2025 Apr 23. View Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry. Abstract

Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments. Am J Hum Genet. 2025 May 01; 112(5):975-983. View Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments. Abstract

ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration. Brain. 2025 Mar 22. View ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration. Abstract

The expanding clinical and genetic spectrum of DYNC1H1-related disorders. Brain. 2025 Feb 03; 148(2):597-612. View The expanding clinical and genetic spectrum of DYNC1H1-related disorders. Abstract

Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis. JAMA Pediatr. 2025 Feb 01; 179(2). View Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis. Abstract

CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans. Am J Hum Genet. 2025 Feb 06; 112(2):353-373. View CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans. Abstract

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024 Dec 02; 9(1):60. View Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. Abstract

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships. medRxiv. 2024 Nov 20. View The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships. Abstract

Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration. medRxiv. 2024 Nov 18. View Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration. Abstract

Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders. Ann Neurol. 2024 Nov; 96(5):900-913. View Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders. Abstract

Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder. Am J Med Genet A. 2025 Jan; 197(1):e63843. View Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder. Abstract

Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia. J Clin Invest. 2024 Jul 11; 134(17). View Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia. Abstract

Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder. Genes (Basel). 2024 03 28; 15(4). View Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder. Abstract

Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders. Ann Clin Transl Neurol. 2024 02; 11(2):251-262. View Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders. Abstract

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders. Mol Genet Genomic Med. 2024 Jan; 12(1):e2363. View Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders. Abstract

Clinical variants paired with phenotype: A rich resource for brain gene curation. Genet Med. 2024 03; 26(3):101035. View Clinical variants paired with phenotype: A rich resource for brain gene curation. Abstract

Clinical actionability of genetic findings in cerebral palsy. medRxiv. 2023 Sep 11. View Clinical actionability of genetic findings in cerebral palsy. Abstract

Toward representative genomic research: the children's rare disease cohorts experience. Ther Adv Rare Dis. 2023 Jan-Dec; 4:26330040231181406. View Toward representative genomic research: the children's rare disease cohorts experience. Abstract

Updated consensus guidelines on the management of Phelan-McDermid syndrome. Am J Med Genet A. 2023 08; 191(8):2015-2044. View Updated consensus guidelines on the management of Phelan-McDermid syndrome. Abstract

Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis. JAMA Neurol. 2022 12 01; 79(12):1287-1295. View Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis. Abstract

GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy. Mol Ther Methods Clin Dev. 2022 Dec 08; 27:32-46. View GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy. Abstract

Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1. Eur J Hum Genet. 2022 08; 30(8):960-966. View Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1. Abstract

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome. Am J Hum Genet. 2022 04 07; 109(4):750-758. View Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome. Abstract

Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Ann Clin Transl Neurol. 2022 02; 9(2):193-205. View Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Abstract

CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. Clin Genet. 2021 10; 100(4):468-477. View CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. Abstract

PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders. Eur J Hum Genet. 2021 08; 29(8):1235-1244. View PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders. Abstract

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. Am J Hum Genet. 2021 06 03; 108(6):1138-1150. View Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. Abstract

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2020 Jan 02; 106(1):137. View ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Abstract

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2019 02 07; 104(2):319-330. View ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Abstract

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. Genet Med. 2018 09; 20(9):1061-1068. View A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. Abstract

MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. Am J Med Genet A. 2018 01; 176(1):181-186. View MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. Abstract

A novel de-novo WNT5A mutation in a Chinese patient with Robinow syndrome. Clin Dysmorphol. 2016 Oct; 25(4):186-9. View A novel de-novo WNT5A mutation in a Chinese patient with Robinow syndrome. Abstract

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 May; 135(5):569-586. View Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Abstract

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy. Am J Hum Genet. 2016 Apr 07; 98(4):772-81. View Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy. Abstract

Mammalian target of rapamycin inhibitors for intractable epilepsy and subependymal giant cell astrocytomas in tuberous sclerosis complex. J Pediatr. 2014 May; 164(5):1195-200. View Mammalian target of rapamycin inhibitors for intractable epilepsy and subependymal giant cell astrocytomas in tuberous sclerosis complex. Abstract

Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. Hum Mutat. 2013 Jan; 34(1):237-47. View Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. Abstract

Pierpont syndrome: a collaborative study. Am J Med Genet A. 2011 Sep; 155A(9):2203-11. View Pierpont syndrome: a collaborative study. Abstract

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. Orphanet J Rare Dis. 2011 Jun 23; 6:46. View Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. Abstract

An Australian tuberous sclerosis cohort: are surveillance guidelines being met? J Paediatr Child Health. 2011 Oct; 47(10):711-6. View An Australian tuberous sclerosis cohort: are surveillance guidelines being met? Abstract