P. Au

发表

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

R. Pfundt, S. Robertson, D. Wieczorek, 2017, American journal of human genetics.

Physiological roles and mechanisms of signaling by TRAF2 and TRAF5.

W. Yeh, P. Au, 2007, Advances in experimental medicine and biology.

Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome.

L. Gallagher, K. Boycott, G. Baynam, 2017, European journal of medical genetics.

Description of neurodevelopmental phenotypes associated with 10 genetic neurodevelopmental disorders: A scoping review

C. Hanly, P. Au, K. Murias, 2020, Clinical genetics.

The oncogene PDGF-B provides a key switch from cell death to survival induced by TNF

M. Minden, Fei-Fei Liu, W. Yeh, 2005, Oncogene.

Au-Kline Syndrome

A. Kline, P. Au, A. Innes, 2019 .

Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures

J. Parboosingh, B. Argiropoulos, P. Au, 2014, American journal of medical genetics. Part A.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

Rebecca C. Spillmann, C. Cytrynbaum, R. Weksberg, 2022, American journal of human genetics.

De novo exon 1 missense mutations of SKI and Shprintzen‐Goldberg syndrome: Two new cases and a clinical review

J. Graham, A. Innes, J. Parboosingh, 2014, American journal of medical genetics. Part A.

Cannabidiol counters the effects of a dominant-negative pathogenic Kv7.2 variant

R. W. Turner, J. Appendino, P. Au, 2022, iScience.

Genetic mechanisms of neurodevelopmental disorders.

D. Dyment, P. Au, Alison J Eaton, 2020, Handbook of clinical neurology.

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

R. Pfundt, E. van Binsbergen, H. Brunner, 2018, Nature Communications.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Marni J. Falk, E. Zackai, C. Cytrynbaum, 2021, American journal of medical genetics. Part A.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

P. Lockhart, I. Scheffer, H. Mefford, 2022, American journal of human genetics.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

R. Pfundt, B. D. de Vries, M. Bamshad, 2021, medRxiv.

Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.

Teresa L. Mastracci, Leah R. Padgett, W. Chung, 2019, American journal of human genetics.

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

M. Lyons, C. Depienne, R. Person, 2021, Human genetics.

Essential role for caspase 8 in T-cell homeostasis and T-cell-mediated immunity.

Denis Bouchard, L. Salmena, A. Hakem, 2003, Genes & development.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies

O. Suchowersky, P. Au, J. McMillan, 2018, Case reports in endocrinology.

Potential use of alexidine dihydrochloride as an apoptosis-promoting anticancer agent

Joseph D. Mocanu, David W. Hedley, Fei-Fei Liu, 2006, Molecular Cancer Therapeutics.

Familial neonatal seizures caused by the Kv7.3 selectivity filter mutation T313I

J. Appendino, P. Au, S. Lamothe, 2020, Epilepsia open.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

R. Pfundt, E. van Binsbergen, H. Brunner, 2018, Nature Communications.

M. Shinawi, B. Cogné, Georgia Vasileiou, 2023, Clinical genetics.

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Edward Yang, Laurence Faivre, Jillian S Parboosingh, 2015, American journal of human genetics.