Suneeta Madan-Khetarpal

Jessica Sebastian 12 collaborations

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None None 5 collaborations

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Suneeta Madan-Khetarpal

Affiliations

Publications (30)

A homozygous CAP2 pathogenic variant in a neonate presenting with rapidly progressive cardiomyopathy and nemaline rods.

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.

Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.

Disruptive variants of

Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea.

Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases.

Autism spectrum disorder in females with ARHGEF9 alterations and a random pattern of X chromosome inactivation.

RASopathy in Patients With Isolated Sagittal Synostosis.

Ocular findings of albinism in

Copy number alterations involving 59 ACMG-recommended secondary findings genes.

Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots.

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.

Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.

Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.

A comparative analysis of RAS variants in patients with disorders of somatic mosaicism.

Neurosurgical Management of Rubinstein-Taybi Syndrome: An Institutional Experience.

A Novel Frameshift Mutation in KAT6A Is Associated with Pancraniosynostosis.

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.

Syndromic and Systemic Diagnoses Associated With Isolated Sagittal Synostosis.

Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing.

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

GIGYF1 disruption associates with autism and impaired IGF-1R signaling.

Recurrent Xp22.31-Yq11 Unbalanced Translocations: Molecular Diagnosis and Clinical Implications in Three Families.

Réseau de co-auteurs