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Ying Liu
Researcher at University of Alabama at Birmingham
Publications - 1
Citations - 130
Ying Liu is an academic researcher from University of Alabama at Birmingham. The author has contributed to research in topics: Noonan syndrome & Legius syndrome. The author has an hindex of 1, co-authored 1 publications receiving 101 citations.
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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Kitiwan Rojnueangnit,Kitiwan Rojnueangnit,Jing Xie,Alicia Gomes,Angela Sharp,Tom Callens,Yunjia Chen,Ying Liu,Meagan E. Cochran,Mary Alice Abbott,Joan F. Atkin,Dusica Babovic-Vuksanovic,Christopher P. Barnett,Melissa Crenshaw,Dennis Bartholomew,Lina Basel,Gary Bellus,Shay Ben-Shachar,Martin G. Bialer,David P. Bick,Bruce Blumberg,Fanny Cortés,Karen L. David,Anne Destree,Anna Duat-Rodriguez,Dawn L. Earl,Luis F. Escobar,Marthanda Eswara,Begona Ezquieta,Ian M. Frayling,Moshe Frydman,Kathy Gardner,Karen W. Gripp,Concepción Hernández-Chico,Kurt Heyrman,Jennifer Ibrahim,Sandra Janssens,Beth Keena,Isabel Llano-Rivas,Kathy A. Leppig,Marie T. McDonald,Vinod K. Misra,Jennifer Mulbury,Vinodh Narayanan,Naama Orenstein,Patricia Galvin-Parton,Helio Pedro,Eniko K. Pivnick,Cynthia M. Powell,Linda M. Randolph,Salmo Raskin,Jordi Rosell,Karol Rubin,Margretta R. Seashore,Christian P. Schaaf,Angela E. Scheuerle,Meredith Schultz,Elizabeth K. Schorry,Rhonda E. Schnur,Elizabeth Siqveland,Amanda Tkachuk,James H. Tonsgard,Meena Upadhyaya,Ishwar C. Verma,Stephanie E Wallace,Charles A. Williams,Elaine H. Zackai,Jonathan Zonana,Conxi Lázaro,Kathleen Claes,Bruce R. Korf,Yolanda Martin,Eric Legius,Ludwine Messiaen +73 more
TL;DR: 136 individuals with a distinct phenotype carrying one of five different NF1 missense mutations affecting p.Arg1809 affect 1.23% of unrelated NF1 probands in the UAB cohort, therefore this specific NF1 genotype–phenotype correlation will affect counseling and management of a significant number of patients.