[HTML][HTML] Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

…, N Laing, S Kayoko, T Prior, WK Chung… - Neuromuscular …, 2018 - Elsevier
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder due to a defect in the
survival motor neuron 1 (SMN1) gene. Its incidence is approximately 1 in 11,000 live births. In …

Genetics and genomics of pulmonary arterial hypertension

…, F Soubrier, RC Trembath, WK Chung - Journal of the American …, 2009 - jacc.org
Pulmonary arterial hypertension (PAH) is a rare disorder that may be hereditable (HPAH),
idiopathic (IPAH), or associated with either drug-toxin exposures or other medical conditions. …

Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association

ME Pierpont, M Brueckner, WK Chung, V Garg… - Circulation, 2018 - Am Heart Assoc
This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …

Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers

…, CM Kets, MA Adank, EM John, WK Chung… - Jama, 2017 - jamanetwork.com
Importance The clinical management ofBRCA1andBRCA2mutation carriers requires accurate,
prospective cancer risk estimates. Objectives To estimate age-specific risks of breast, …

[HTML][HTML] Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2. 0): a policy statement of the …

SS Kalia, K Adelman, SJ Bale, WK Chung, C Eng… - Genetics in …, 2017 - nature.com
Disclaimer: These recommendations are designed primarily as an educational resource for
medical geneticists and other healthcare providers to help them provide quality medical …

Phenotypes of Mouse diabetes and Rat fatty Due to Mutations in the OB (Leptin) Receptor

SC Chua Jr, WK Chung, XS Wu-Peng, Y Zhang, SM Liu… - Science, 1996 - science.org
Mice harboring mutations in the obese (ob) and diabetes (db) genes display similar phenotypes,
and it has been proposed that these genes encode the ligand and receptor, respectively…

ACMG SF v3. 0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and …

DT Miller, K Lee, WK Chung, AS Gordon… - Genetics in …, 2021 - nature.com
Clinicians are encouraged to document the reasons for the use of a particular procedure or
test, whether or not it is in conformance with this statement. Clinicians also are advised to …

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

…, L McCluskey, M Grossman, NA Shneider, WK Chung… - Science, 2015 - science.org
Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease with no effective
treatment. We report the results of a moderate-scale sequencing study aimed at increasing the …

[HTML][HTML] Clinical application of whole-exome sequencing across clinical indications

…, G Richard, T Brandt, E Haverfield, WK Chung… - Genetics in …, 2016 - nature.com
Purpose: We report the diagnostic yield of whole-exome sequencing (WES) in 3,040 consecutive
cases at a single clinical laboratory. Methods: WES was performed for many different …

Pediatric pulmonary hypertension: guidelines from the American heart association and American thoracic society

…, G Hansmann, SL Archer, DD Ivy, I Adatia, WK Chung… - Circulation, 2015 - Am Heart Assoc
Pulmonary hypertension is associated with diverse cardiac, pulmonary, and systemic
diseases in neonates, infants, and older children and contributes to significant morbidity and …