Michele Spencer-Manzon

发表

Antenatally detected liver and biliary pathology.

M. Spencer-Manzon, Matthew P. Shaughnessy, R. Cowles, 2020, Seminars in pediatric surgery.

Liver transplantation for glycogen storage disease type Ia.

B. Clary, D. Koeberl, P. Kishnani, 2009, Journal of hepatology.

Cardiac Pathology in Glycogen Storage Disease Type III.

S. B. Wechsler, J. Butany, P. Kishnani, 2012, JIMD reports.

A retrospective cohort analysis of the Yale pediatric genomics discovery program

Emily K. Mis, W. Ji, M. Konstantino, 2022, American journal of medical genetics. Part A.

Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients

J. McGrath, A. Diadamo, Brittany Grommisch, 2022, American journal of medical genetics. Part A.

DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants.

W. Ji, S. Lakhani, J. McGrath, 2020, American journal of medical genetics. Part A.

Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants

Emily K. Mis, W. Ji, P. Chase, 2020, Frontiers in Physiology.

Platelet activation in cystic fibrosis.

James E. Morris, A. Michelson, M. Laposata, 2005, Blood.

A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the OXCT1 Gene

M. Spencer-Manzon, Daniel J Zheng, Michael Hooper, 2017, Journal of Pediatric Intensive Care.

Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases.

W. Ji, M. Konstantino, S. Lakhani, 2019, European journal of medical genetics.

A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death.

R. Fulbright, Y. Yen, W. Ji, 2019, European journal of medical genetics.

A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings

J. Mcgrath, H. Chai, A. Diadamo, 2019, Front. Genet..

Cardiac Pathology in Glycogen Storage Disease Type III.

S. B. Wechsler, J. Butany, P. Kishnani, 2012, JIMD reports.