M. Spencer-Manzon

发表

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..

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

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

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.

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.

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.

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.

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.

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.

Banding pattern on polarized hair microscopic examination and unilateral polymicrogyria in a patient with steroid sulfatase deficiency.

S.U. Steele, M. Mikati, M. Spencer-Manzon, 2012, Archives of dermatology.