Michele Spencer-Manzon, MD

• Allen Bale
• Carrie L Lucas
• Chen Zhao
• Deqiong Ma
• E Kevin Hall
• Engin Deniz
• Jia Di Wen
• Lauren Jeffries
• Monica Konstantino
• Nina Brodsky
• Peining Li
• Richard Pierce
• Saquib A. Lakhani
• Weizhen Ji
• Yong-Hui Jiang

Chronic Diseases; Genetics, Genomics, Epigenetics; Health Care Quality, Efficiency; Child/Adolescent Health

• A retrospective cohort analysis of the Yale pediatric genomics discovery programAl‐Ali S, Jeffries L, Faustino EVS, Ji W, Mis E, Konstantino M, Zerillo C, Jiang Y, Spencer‐Manzon M, Bale A, Zhang H, McGlynn J, McGrath JM, Tremblay T, Brodsky NN, Lucas CL, Pierce R, Deniz E, Khokha MK, Lakhani SA. A retrospective cohort analysis of the Yale pediatric genomics discovery program. American Journal Of Medical Genetics Part A 2022, 188: 2869-2878. PMID: 35899841, PMCID: PMC9474639, DOI: 10.1002/ajmg.a.62918.
• MYO-INOSITOL AS AN INNOVATIVE THERAPY FOR PIGW-RELATED GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCYPalma M, McVicar K, Spencer-Manzon M, Tiwary H, Chen J, Master S, He M, Bennett M, Pearl P, Berry G. MYO-INOSITOL AS AN INNOVATIVE THERAPY FOR PIGW-RELATED GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY. Molecular Genetics And Metabolism 2022, 135: 289-290. DOI: 10.1016/j.ymgme.2022.01.070.
• Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patientsWen J, Chai H, Grommisch B, DiAdamo A, Dykas D, Ma D, Popa A, Zhao C, Spencer‐Manzon M, Jiang Y, McGrath J, Li P, Bale A, Zhang H. Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients. American Journal Of Medical Genetics Part A 2022, 188: 1728-1738. PMID: 35199448, DOI: 10.1002/ajmg.a.62693.
• A 6-year-old Refugee Girl with Profound Developmental Disability and SeizuresRosenberg JM, Brown C, Spencer-Manzon MJ. A 6-year-old Refugee Girl with Profound Developmental Disability and Seizures. Pediatrics In Review 2021, 42: s23-s26. PMID: 33386354, DOI: 10.1542/pir.2019-0010.
• The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN‐associated AMC as a type of viable fetal akinesia deformation sequenceMis EK, Al‐Ali S, Ji W, Spencer‐Manzon M, Konstantino M, Khokha MK, Jeffries L, Lakhani SA. The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN‐associated AMC as a type of viable fetal akinesia deformation sequence. American Journal Of Medical Genetics Part A 2020, 182: 2291-2296. PMID: 32812332, DOI: 10.1002/ajmg.a.61783.
• Antenatally detected liver and biliary pathologyShaughnessy MP, Spencer-Manzon M, Cowles RA. Antenatally detected liver and biliary pathology. Seminars In Pediatric Surgery 2020, 29: 150939. PMID: 32861443, DOI: 10.1016/j.sempedsurg.2020.150939.
• DYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variantsAmabile S, Jeffries L, McGrath JM, Ji W, Spencer‐Manzon M, Zhang H, Lakhani SA. DYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants. American Journal Of Medical Genetics Part A 2020, 182: 2049-2057. PMID: 32656949, DOI: 10.1002/ajmg.a.61729.
• Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 VariantsLandim-Vieira M, Johnston JR, Ji W, Mis EK, Tijerino J, Spencer-Manzon M, Jeffries L, Hall EK, Panisello-Manterola D, Khokha MK, Deniz E, Chase PB, Lakhani SA, Pinto JR. Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants. Frontiers In Physiology 2020, 10: 1612. PMID: 32038292, PMCID: PMC6990120, DOI: 10.3389/fphys.2019.01612.
• A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric SettingsChai H, DiAdamo A, Grommisch B, Xu F, Zhou Q, Wen J, Mahoney M, Bale A, McGrath J, Spencer-Manzon M, Li P, Zhang H. A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings. Frontiers In Genetics 2019, 10: 1162. PMID: 31850057, PMCID: PMC6902283, DOI: 10.3389/fgene.2019.01162.
• A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal deathPenque BA, Su L, Wang J, Ji W, Bale A, Luh F, Fulbright RK, Sarmast U, Sega AG, Konstantino M, Spencer-Manzon M, Pierce R, Yen Y, Lakhani SA. A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death. European Journal Of Medical Genetics 2018, 62: 103574. PMID: 30439532, DOI: 10.1016/j.ejmg.2018.11.008.
• Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseasesJeffries L, Olivieri JE, Ji W, Spencer-Manzon M, Bale A, Konstantino M, Lakhani SA. Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases. European Journal Of Medical Genetics 2018, 62: 103551. PMID: 30300710, DOI: 10.1016/j.ejmg.2018.10.003.
• 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 GeneZheng DJ, Hooper M, Spencer-Manzon M, Pierce RW. 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. Journal Of Pediatric Intensive Care 2017, 07: 062-066. PMID: 31073471, PMCID: PMC6260335, DOI: 10.1055/s-0037-1604270.
• Cardiac Pathology in Glycogen Storage Disease Type IIIAustin SL, Proia AD, Spencer-Manzon MJ, Butany J, Wechsler SB, Kishnani PS. Cardiac Pathology in Glycogen Storage Disease Type III. 2012, 6: 65-72. PMID: 23430941, PMCID: PMC3565657, DOI: 10.1007/8904_2011_118.
• Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase DeficiencyPuri PK, Reddi DM, Spencer-Manzon M, Deak K, Steele SU, Mikati MA. Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency. JAMA Dermatology 2011, 148: 73-78. PMID: 21931015, DOI: 10.1001/archdermatol.2011.281.
• Liver transplantation for glycogen storage disease type IaReddy SK, Austin SL, Spencer-Manzon M, Koeberl DD, Clary BM, Desai DM, Smith AD, Kishnani PS. Liver transplantation for glycogen storage disease type Ia. Journal Of Hepatology 2009, 51: 483-490. PMID: 19596478, DOI: 10.1016/j.jhep.2009.05.026.
• Platelet activation in cystic fibrosisO'Sullivan BP, Linden MD, Frelinger AL, Barnard MR, Spencer-Manzon M, Morris JE, Salem RO, Laposata M, Michelson AD. Platelet activation in cystic fibrosis. Blood 2005, 105: 4635-4641. PMID: 15705796, DOI: 10.1182/blood-2004-06-2098.