K. Garber

发表

Fragile X Syndrome and X-Linked Intellectual Disability

S. Warren, J. Visootsak, K. Garber, 2013 .

Cleft palate in a multigenerational family with a microdeletion of 20p12.3 involving BMP2

E. Williams, C. L. Martin, B. Bunke, 2012, American journal of medical genetics. Part A.

Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

S. Waisbren, N. Leslie, J. Fridovich-Keil, 2012, Journal of Inherited Metabolic Disease.

A homozygous exonic variant leading to exon skipping in ABCC8 as the cause of severe congenital hyperinsulinism

P. Jin, Yujing Li, Yulin Jin, 2022, American journal of medical genetics. Part A.

Heterogeneous Pulmonary Phenotypes in Filamin A Mutation-Related Lung Disease.

M. Gambello, Erica L Riedesel, Amit S Shah, 2021, Pediatric allergy, immunology, and pulmonology.

2022 Association of Professors of Human and Medical Genetics (APHMG) consensus-based update of the core competencies for undergraduate medical education in genetics and genomics.

A. Popejoy, A. Philp, F. Quintero-Rivera, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

Soma Das, Heidi L Rehm, Brian H Shirts, 2018, Human mutation.

Fragile X Syndrome in China

R. Duan, K. Garber, P. Jin, 2013 .

From helices to health: undergraduate medical education in genetics and genomics.

Katherine M. Hyland, S. Dasgupta, K. Garber, 2019, Personalized medicine.

Expansion of the genotypic and phenotypic spectrum of CTCF‐related disorder guides clinical management: 43 new subjects and a comprehensive literature review

V. Corces, Hsiao-Lin V. Wang, Xiaodong Cheng, 2022, American journal of medical genetics. Part A.

Fragile X syndrome

Stephen T Warren, S. Warren, Kathryn B Garber, 2008, European Journal of Human Genetics.

Towards understanding RNA-mediated neurological disorders.

P. Jin, R. Duan, K. Garber, 2014, Journal of genetics and genomics = Yi chuan xue bao.

Pharmaco‐genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome

Philip D. Harvey, C. Martin, M. Adam, 2011, American journal of medical genetics. Part A.

Fat mass and obesity-associated (FTO) protein interacts with CaMKII and modulates the activity of CREB signaling pathway.

Chadwick M. Hales, P. Jin, Li Lin, 2014, Human molecular genetics.

Pathogenic in-Frame Variants in SCN8A: Expanding the Genetic Landscape of SCN8A-Associated Disease

A. Escayg, Jennifer C. Wong, S. Kubendran, 2021, Frontiers in Pharmacology.

Transcription, translation and fragile X syndrome.

S. Warren, Karen T. Smith, D. Reines, 2006, Current opinion in genetics & development.

Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing

Madhuri Hegde, M. Hegde, P. Hall, 2016, Genetics in Medicine.

Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine.

Madhuri Hegde, Lora J H Bean, Lora J. H. Bean, 2016, American journal of human genetics.

Participatory Genomic Testing as an Educational Experience.

Katherine M. Hyland, S. Dasgupta, K. Garber, 2016, Trends in genetics : TIG.

Fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is associated with intellectual

S. Warren, J. Visootsak, K. Garber, 2008 .

Anthrax ( Bacillus anthracis ), Molecular Biology of

K. Garber, 2006 .