R. Mao

发表

Mosaic trisomy 16 ascertained through amniocentesis: evaluation of 11 new cases.

E. Roeder, M. Bialer, E. Berry-Kravis, 1998, American journal of medical genetics.

Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.

M. Patterson, C. Gomez, M. Nance, 2002, American journal of medical genetics.

Characteristics of two cases with dup(15) (q 11.2-q 12): one of maternal and one of paternal origin

D. Babovic‐Vuksanovic, K. Snow, V. Michels, 2000, Genetics in Medicine.

Centromeric DNA break in a 10;16 reciprocal translocation associated with trisomy 16 confined placental mosaicism and maternal uniparental disomy for chromosome 16.

J. C. Wang, W. Hsu, R. Mao, 1998, American journal of medical genetics.

Effective variant filtering and expected candidate variant yield in studies of rare human disease

Brent S. Pedersen, A. Quinlan, J. Schiffman, 2021, npj Genomic Medicine.

ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis)

Arupa Ganguly, Madhuri Hegde, M. Hegde, 2013, Genetics in Medicine.

Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: phenotypic presentation and implications for mutation detection assays.

G. Feldman, K. Snow, B. Roa, 2001, Molecular genetics and metabolism.

Effective variant filtering and expected candidate variant yield in studies of rare human disease

Brent S. Pedersen, Aaron R. Quinlan, D. Hunter Best, 2020, npj Genomic Medicine.

Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

Joshua L. Deignan, H. Greely, S. Topper, 2020, Genetics in Medicine.