The impact of hereditary cancer gene panels on clinical care and lessons learned

por Okur, Volkan, Chung, Wendy K.
Publicado 2017

Pediatric genetics: rare is common

por Gunter, Chris, Chung, Wendy K.
Publicado 2020

Clinical features of PPP2 syndrome type R5D (Jordan's syndrome) to support standardization of care

por Levine, Alexis D., Chung, Wendy K.
Publicado 2023

Genetics and Genomics of Pediatric Pulmonary Arterial Hypertension

por Welch, Carrie L., Chung, Wendy K.
Publicado 2020

Channelopathy Genes in Pulmonary Arterial Hypertension

por Welch, Carrie L., Chung, Wendy K.
Publicado 2022

Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing

por Coromilas, Alexandra, Wynn, Julia, Haverfield, Eden, Chung, Wendy K
Publicado 2015

Biallelic variants in VARS in a family with two siblings with intellectual disability and microcephaly: case report and review of the literature

por Okur, Volkan, Ganapathi, Mythily, Wilson, Ashley, Chung, Wendy K.
Publicado 2018

Cancer Genetic Counselor Information Needs for Risk Communication: A Qualitative Evaluation of Interview Transcripts

por Overby, Casey Lynnette, Chung, Wendy K., Hripcsak, George, Kukafka, Rita
Publicado 2013

PHIP variants associated with Chung–Jansen syndrome disrupt replication fork stability and genome integrity

por Tirado-Class, Neysha, Hathaway, Caitlin, Chung, Wendy K., Dungrawala, Huzefa
Publicado 2022

Rare variant phasing and haplotypic expression from RNA sequencing with phASER

por Castel, Stephane E., Mohammadi, Pejman, Chung, Wendy K., Shen, Yufeng, Lappalainen, Tuuli
Publicado 2016

Advances in the Understanding of the Genetic Determinants of Congenital Heart Disease and Their Impact on Clinical Outcomes

por Russell, Mark W., Chung, Wendy K., Kaltman, Jonathan R., Miller, Thomas A.
Publicado 2018

Recurrent diffuse lung disease due to surfactant protein C deficiency

por Kazzi, Brigitte, Lederer, David, Arteaga-Solis, Emilio, Saqi, Anjali, Chung, Wendy K.
Publicado 2018

Abnormal Vertical Eye Movements as a Clue for Diagnosis of Niemann–Pick Type C

por Gupta, Deepak K., Blanco-Palmero, Victor A., Chung, Wendy K., Kuo, Sheng-Han
Publicado 2018

Post-translational formation of hypusine in eIF5A: implications in human neurodevelopment

por Park, Myung Hee, Kar, Rajesh Kumar, Banka, Siddharth, Ziegler, Alban, Chung, Wendy K.
Publicado 2021

Celiac disease and Down syndrome mortality: a nationwide cohort study

por Ludvigsson, Jonas F., Lebwohl, Benjamin, Green, Peter H. R., Chung, Wendy K., Mårild, Karl
Publicado 2017

Pulmonary arterial hypertension: Specialists’ knowledge, practices, and attitudes of genetic counseling and genetic testing in the USA

por Jacher, Joseph E., Martin, Lisa J., Chung, Wendy K., Loyd, James E., Nichols, William C.
Publicado 2017

Early Pandemic Experiences of Autistic Adults: Predictors of Psychological Distress

por Bal, Vanessa H., Wilkinson, Ellen, White, L. Casey, Law, J. Kiely, Feliciano, Pamela, Chung, Wendy K.
Publicado 2021

Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability

por Rohena, Luis, Neidich, Julie, Truitt Cho, Megan, Gonzalez, Kelly DF, Tang, Sha, Devinsky, Orrin, Chung, Wendy K
Publicado 2013

The Impact of Heterozygous KCNK3 Mutations Associated With Pulmonary Arterial Hypertension on Channel Function and Pharmacological Recovery

por Bohnen, Michael S., Roman‐Campos, Danilo, Terrenoire, Cecile, Jnani, Jack, Sampson, Kevin J., Chung, Wendy K., Kass, Robert S.
Publicado 2017

Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay

por Okur, Volkan, LeDuc, Charles A., Guzman, Edwin, Valivullah, Zaheer M., Anyane-Yeboa, Kwame, Chung, Wendy K.
Publicado 2019