Ping-Yee B Au

发表

The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy

P. Federico, Christina Cherian, J. Appendino, 2021, Journal of Neurology.

Structural mapping of GABRB3 variants reveals genotype-phenotype correlation

H. Firth, P. Striano, M. Haeusler, 2021, medRxiv.

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

Ping-Yee B Au, D. Lessel, J. Denecke, 2021, neurogenetics.

Structural mapping of GABRB3 variants reveals genotype–phenotype correlations

H. Firth, P. Striano, M. Haeusler, 2021, Genetics in Medicine.

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

B. D. de Vries, T. Matise, E. Boerwinkle, 2020, American journal of medical genetics. Part A.

SCN2A-related epilepsy of infancy with migrating focal seizures: report of a variant with apparent gain and loss of function effects.

J. Appendino, Ping-Yee B Au, M. Chahine, 2022, Journal of neurophysiology.

De novo Y1460C missense variant in NaV1.1 impedes the pore region and results in epileptic encephalopathy

J. Appendino, Ping-Yee B Au, M. Chahine, 2022, Scientific Reports.

The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

A. Need, J. Clayton-Smith, I. MacDonald, 2022, Nature Communications.

Hereditary spastic paraplegia initially diagnosed as cerebral palsy

O. Suchowersky, G. Rouleau, S. Ashtiani, 2021, Clinical parkinsonism & related disorders.

Review of the recurrent 8q13.2q13.3 branchio‐oto‐renal related microdeletion, and report of an additional case with associated distal arthrogryposis

Ping-Yee B Au, M. A. Thomas, Judy E. Chernos, 2016, American journal of medical genetics. Part A.

Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)

Ping-Yee B Au, M. Srour, M. Inbar‐Feigenberg, 2023, Journal of Medical Genetics.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

Lin‐Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders

Ping-Yee B Au, A. Innes, J. Parboosingh, 2017, American journal of medical genetics. Part A.

CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.

J. Howe, J. Buxbaum, B. Wirth, 2022, Brain : a journal of neurology.

The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing

F. Rosenow, S. Knake, C. Josephson, 2023, Epilepsia open.

Early recognition of characteristic conventional and amplitude-integrated EEG patterns of seizures in SCN2A and KCNQ3-related epilepsy in neonates

J. Appendino, Ping-Yee B Au, A. Vein, 2023, Seizure: European Journal of Epilepsy.

Early recognition of characteristic conventional and amplitude-integrated EEG patterns of seizures in SCN2A and KCNQ3-related epilepsy in neonates

J. Appendino, Ping-Yee B Au, A. Vein, 2023, Seizure: European Journal of Epilepsy.

Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy.

Ping-Yee B Au, C. Van den Haute, M. A. Colijn, 2024, Neurogenetics.