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Affiliations

Publications (32)

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

Redefining the Etiologic Landscape of Cerebellar Malformations.

Hypoxia: A teratogen underlying a range of congenital disruptions, dysplasias, and malformations.

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.

A dyadic approach to the delineation of diagnostic entities in clinical genomics.

Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.

Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia.

Germline AGO2 mutations impair RNA interference and human neurological development.

Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.

Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.

A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.

Clinical, neuroimaging and molecular characteristics of

Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing.

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

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.

Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations.

Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.

The spectrum of brain malformations and disruptions in twins.

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

Brain Abnormalities in PIK3CA-Related Overgrowth Spectrum: Physician, Patient, and Caregiver Experiences.

ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection.

PIK3R2/Pik3r2 Activating Mutations Result in Brain Overgrowth and EEG Changes.

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.

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

The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.

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