A. Tsai

发表

Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease

B. Thurberg, C. Maloney, C. Vaccaro, 2006, Laboratory Investigation.

Detection of clinically relevant exonic copy‐number changes by array CGH

P. Stankiewicz, Z. Xia, J. Wiszniewska, 2010, Human mutation.

Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

David T. Miller, L. Demmer, M. Scheuner, 2020, Genetics in Medicine.

A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development

E. Zackai, L. Schieve, J. Hoover-Fong, 2019, Journal of Autism and Developmental Disorders.

Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys–Drash syndrome

E. Spector, P. Chiang, A. Tsai, 2008, Current opinion in pediatrics.

Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia

A. Tsai, Hsin-Ti Lin, Maxwell Chou, 2022, Molecular genetics and metabolism reports.

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

H. Hakonarson, M. Bamshad, H. Firth, 2022, HGG advances.

CHINESE HAMSTER OVARY CELL-DERIVED RECOMBINANT HUMAN ACID α -GLUCOSIDASE IN INFANTILE-ONSET POMPE DISEASE

G. Herman, T. Voit, A. Amalfitano, 2009 .

A new hypothesis of OCA1B

E. Spector, P. Chiang, A. Tsai, 2008, American journal of medical genetics. Part A.

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

L. Vissers, S. Cheung, J. Veltman, 2012, Nature Genetics.

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

Marc S. Williams, E. Zackai, C. Haldeman-Englert, 2021, American journal of human genetics.

Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease

C. Harding, L. Wong, A. Tsai, 2017, American journal of medical genetics. Part A.

Automated syndrome diagnosis by three-dimensional facial imaging

David C. Katz, Jordan J. Bannister, Jacinda R. Larson, 2020, Genetics in Medicine.

Revisiting recombinant 8 syndrome

Laura Pickler, A. Tsai, Rebecca Wilson, 2011, American journal of medical genetics. Part A.

Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency—Lessons learned

A. Tsai, Hsin-Ti Lin, D. Demarzo, 2022, Molecular genetics and metabolism reports.

A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development

E. Zackai, L. Schieve, J. Hoover-Fong, 2019, Journal of Autism and Developmental Disorders.

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Stephanie E. Vallee, J. Rosenfeld, R. Tervo, 2013, American journal of medical genetics. Part A.

Chromosomal Disorders and Fragile x Syndrome

Laura Pickler, R. Hagerman, A. Tsai, 2009 .

The different facets of “culture” in genetic counseling: A situated analysis of genetic counseling in Hong Kong

Anthony P Y Liu, B. Chung, A. Tsai, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Oculocutaneous albinism spectrum

E. Spector, P. Chiang, A. Tsai, 2009, American journal of medical genetics. Part A.

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.

D. Horn, X. Wang, C. Saunders, 2019, American journal of human genetics.

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

Mahshid S. Azamian, J. Lupski, R. Gibbs, 2014, American journal of human genetics.

Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome

S. Dimauro, L. Salviati, S. Sacconi, 2004, American journal of medical genetics. Part A.

Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia

P. Yen, M. Lee, F. Tsai, 2008, Genomic Medicine.

Teebi hypertelorism syndrome: report of a family with previously unrecognized findings.

A. Teebi, A. Tsai, J. R. Robertson, 2002, American journal of medical genetics.

Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

David T. Miller, L. Demmer, M. Scheuner, 2020, Genetics in Medicine.

Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism

S. Scherer, W. Roberts, E. Anagnostou, 2016, Pediatrics.

Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions

P. Stankiewicz, Ankita Patel, S. Cheung, 2012, European Journal of Human Genetics.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

R. Hennekam, L. Biesecker, J. Graham, 2010, Human mutation.

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

I. Krantz, V. Lefebvre, C. Depienne, 2020, American journal of human genetics.

Mutations in the RNA Granule Component TDRD7 Cause Cataract and Glaucoma

Fowzan S Alkuraya, Martha L Bulyk, Anton Aboukhalil, 2011, Science.

Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization

J. Rosenfeld, I. Krantz, N. Spinner, 2012, American journal of medical genetics. Part A.

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH

P. Stankiewicz, J. Wiszniewska, S. Cheung, 2011, European Journal of Human Genetics.

Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes

J. Rosenfeld, B. Torchia, L. Shaffer, 2011, European Journal of Human Genetics.

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Justyna A. Karolak, H. Mefford, W. Chung, 2019, American journal of human genetics.

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

E. Eichler, J. Vincent, D. Nickerson, 2019, Genetics in Medicine.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Miguel A. Soler, Monika J. Madej, Nancy T. Malintan, 2019, Nature Communications.

Somatic and germ‐line mosaicism in Rubinstein–Taybi syndrome

W. Hwu, E. Spector, P. Chiang, 2009, American journal of medical genetics. Part A.

De novo duplication of the short arm of chromosome 12: dup(12)(p13.1p13.3)

A. Tsai, P. Cotter, Carol S. Walton, 2005, American journal of medical genetics. Part A.

Identical twin sisters with Rubinstein–Taybi syndrome associated with Chiari malformations and syrinx

G. Bellus, A. Tsai, M. Handler, 2011, American journal of medical genetics. Part A.

Male With Mosaicism for Supernumerary Ring X Chromosome: Analysis of Phenotype and Characterization of Genotype Using Array Comparative Genome Hybridization

G. Bellus, A. Tsai, K. Swisshelm, 2010, The Journal of craniofacial surgery.

De novo isodicentric X chromosome: 46,X,idic(X)(q24), and summary of literature

A. Tsai, John P. Johnson, L. Beischel, 2006, American journal of medical genetics. Part A.

Toward Best Practice in Using Molecular Diagnosis to Guide Medical Management, Are We There Yet?

A. Tsai, Xuezhong Liu, 2014, North American Journal of Medicine and Science.

Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.

G. Herman, R. C. Rogers, T. Voit, 2006, The Journal of pediatrics.

Late‐onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance

C. Morel, D. Rosenblatt, A. Tsai, 2007, American journal of medical genetics. Part A.

Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain

F. Schumacher, A. Tsai, W. Molina, 2023, Urolithiasis.

Identification of a submicroscopic 3.2 Mb chromosomal 16q12.2‐13 deletion in a child with short stature, mild developmental delay, and craniofacial anomalies, by high‐density oligonucleotide array‐a recognizable syndrome

Ling-Hui Li, F. Tsai, Yuan-Tsong Chen, 2010, American journal of medical genetics. Part A.

Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive

E. Spector, P. Chiang, A. Tsai, 2008, American journal of medical genetics. Part A.

The Curse of the Dolphins: Cognitive Decline and Psychosis.

Randall A. Phelps, M. Stein, A. Tsai, 2016, Journal of developmental and behavioral pediatrics : JDBP.

Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder

E. Zackai, L. Schieve, N. Dowling, 2020, Autism research : official journal of the International Society for Autism Research.

Novel compound heterozygous variants in the NBAS gene in a child with osteogenesis imperfecta and recurrent acute liver failure

A. Tsai, Sowmya Krishnan, Ankur Rughani, 2021, BMJ Case Reports.

Detection of clinically relevant exonic copy‐number changes by array CGH

P. Stankiewicz, Z. Xia, Ankita Patel, 2010, Human mutation.

A novel, germline, deactivating CBL variant p.L493F alters domain orientation and is associated with multiple childhood cancers.

T. Caulfield, A. Tsai, A. Green, 2021, Cancer genetics.

Birth defects and dysmorphic features

A. Tsai, 2011 .

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Stephanie E. Vallee, J. Rosenfeld, R. Tervo, 2013, American journal of medical genetics. Part A.