DYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants
Amabile, Sonia, Jeffries, Lauren, McGrath, James M., Ji, Weizhen, Spencer‐Manzon, Michele, Zhang, Hui, Lakhani, Saquib A.
Published in American journal of medical genetics. Part A (01.09.2020)
Published in American journal of medical genetics. Part A (01.09.2020)
Get full text
Journal Article
Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients
Wen, Jiadi, Chai, Hongyan, Grommisch, Brittany, DiAdamo, Autumn, Dykas, Daniel, Ma, Deqiong, Popa, Andreea, Zhao, Chen, Spencer‐Manzon, Michele, Jiang, Yong‐Hui, McGrath, James, Li, Peining, Bale, Allen, Zhang, Hui
Published in American journal of medical genetics. Part A (01.06.2022)
Published in American journal of medical genetics. Part A (01.06.2022)
Get full text
Journal Article
A retrospective cohort analysis of the Yale pediatric genomics discovery program
Al‐Ali, Samir, Jeffries, Lauren, Faustino, E. Vincent S., Ji, Weizhen, Mis, Emily, Konstantino, Monica, Zerillo, Cynthia, Jiang, Yong‐hui, Spencer‐Manzon, Michele, Bale, Allen, Zhang, Hui, McGlynn, Julie, McGrath, James M., Tremblay, Thierry, Brodsky, Nina N., Lucas, Carrie L., Pierce, Richard, Deniz, Engin, Khokha, Mustafa K., Lakhani, Saquib A.
Published in American journal of medical genetics. Part A (01.10.2022)
Published in American journal of medical genetics. Part A (01.10.2022)
Get full text
Journal Article
The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN‐associated AMC as a type of viable fetal akinesia deformation sequence
Mis, Emily K., Al‐Ali, Samir, Ji, Weizhen, Spencer‐Manzon, Michele, Konstantino, Monica, Khokha, Mustafa K., Jeffries, Lauren, Lakhani, Saquib A.
Published in American journal of medical genetics. Part A (01.10.2020)
Published in American journal of medical genetics. Part A (01.10.2020)
Get full text
Journal Article
A 6-year-old Refugee Girl with Profound Developmental Disability and Seizures
Rosenberg, Julia M, Brown, Camille, Spencer-Manzon, Michele J
Published in Pediatrics in review (01.01.2021)
Published in Pediatrics in review (01.01.2021)
Get more information
Journal Article
Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants
Landim-Vieira, Maicon, Johnston, Jamie R, Ji, Weizhen, Mis, Emily K, Tijerino, Joshua, Spencer-Manzon, Michele, Jeffries, Lauren, Hall, E Kevin, Panisello-Manterola, David, Khokha, Mustafa K, Deniz, Engin, Chase, P Bryant, Lakhani, Saquib A, Pinto, Jose Renato
Published in Frontiers in physiology (22.01.2020)
Published in Frontiers in physiology (22.01.2020)
Get full text
Journal Article
A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings
Chai, Hongyan, DiAdamo, Autumn, Grommisch, Brittany, Xu, Fang, Zhou, Qinghua, Wen, Jiadi, Mahoney, Maurice, Bale, Allen, McGrath, James, Spencer-Manzon, Michele, Li, Peining, Zhang, Hui
Published in Frontiers in genetics (20.11.2019)
Published in Frontiers in genetics (20.11.2019)
Get full text
Journal Article
P602: Genetic modifiers as a basis for phenotypic variability in mosaic trisomy 8
Abdelhamed, Zakia, Dykas, Daniel, DiAdamo, Autumn, Wen, Jai-Di, Zhang, Hui, Spencer-Manzon, Michele, Li, Peining, Jiang, Yong-Hui, Bale, Allen
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
Get full text
Journal Article
MYO-INOSITOL AS AN INNOVATIVE THERAPY FOR -RELATED GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY
Palma, Melinda, McVicar, Kathryn, Spencer-Manzon, Michele, Tiwary, Henna, Chen, Jie, Master, Stephen, He, Miao, Bennett, Michael, Pearl, Phillip, Berry, Gerard
Published in Molecular genetics and metabolism (01.04.2022)
Published in Molecular genetics and metabolism (01.04.2022)
Get full text
Journal Article
MYO-INOSITOL AS AN INNOVATIVE THERAPY FOR PIGW-RELATED GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY
Palma, Melinda, McVicar, Kathryn, Spencer-Manzon, Michele, Tiwary, Henna, Chen, Jie, Master, Stephen, He, Miao, Bennett, Michael, Pearl, Phillip, Berry, Gerard
Published in Molecular genetics and metabolism (01.04.2022)
Published in Molecular genetics and metabolism (01.04.2022)
Get full text
Journal Article
Antenatally detected liver and biliary pathology
Shaughnessy, Matthew P., Spencer-Manzon, Michele, Cowles, Robert A.
Published in Seminars in pediatric surgery (01.08.2020)
Published in Seminars in pediatric surgery (01.08.2020)
Get full text
Journal Article
Excluding Digenic Inheritance of IPGAP2/I and IPGAP3/I Variants in Mabry Syndrome
Thompson, Miles D, Li, Xueying, Spencer-Manzon, Michele, Andrade, Danielle M, Murakami, Yoshiko, Kinoshita, Taroh, Carpenter, Thomas O
Published in Genes (01.01.2023)
Published in Genes (01.01.2023)
Get full text
Journal Article
Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3)
Thompson, Miles D, Li, Xueying, Spencer-Manzon, Michele, Andrade, Danielle M, Murakami, Yoshiko, Kinoshita, Taroh, Carpenter, Thomas O
Published in Genes (30.01.2023)
Published in Genes (30.01.2023)
Get full text
Journal Article
A Unique Presentation of Nodular Masses in Infancy
Velagala, Suganthinie, Heiden, Erica, Lisse, Sean, Wu, Hao, Prior, Daniel, Chen, Gloria, Christison-Lagay, Emily, Provini, Lauren, Antaya, Richard J, Spencer-Manzon, Michele, Johnston, Lindsay C
Published in Neoreviews (Elk Grove Village, Ill.) (01.06.2024)
Published in Neoreviews (Elk Grove Village, Ill.) (01.06.2024)
Get more information
Journal Article
Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases
Jeffries, Lauren, Olivieri, Jordan E., Ji, Weizhen, Spencer-Manzon, Michele, Bale, Allen, Konstantino, Monica, Lakhani, Saquib A.
Published in European journal of medical genetics (01.09.2019)
Published in European journal of medical genetics (01.09.2019)
Get full text
Journal Article
A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death
Penque, Brent A., Su, Leila, Wang, Jianghai, Ji, Weizhen, Bale, Allen, Luh, Frank, Fulbright, Robert K., Sarmast, Uzair, Sega, Annalisa G., Konstantino, Monica, Spencer-Manzon, Michele, Pierce, Richard, Yen, Yun, Lakhani, Saquib A.
Published in European journal of medical genetics (01.11.2019)
Published in European journal of medical genetics (01.11.2019)
Get full text
Journal Article
Liver transplantation for glycogen storage disease type Ia
Reddy, Srinevas K, Austin, Stephanie L, Spencer-Manzon, Michele, Koeberl, Dwight D, Clary, Bryan M, Desai, Dev M, Smith, Alastair D, Kishnani, Priya S
Published in Journal of hepatology (01.09.2009)
Published in Journal of hepatology (01.09.2009)
Get full text
Journal Article
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
Zheng, Daniel J., Hooper, Michael, Spencer-Manzon, Michele, Pierce, Richard W.
Published in Journal of pediatric intensive care (01.03.2018)
Published in Journal of pediatric intensive care (01.03.2018)
Get full text
Journal Article
Platelet activation in cystic fibrosis
O'Sullivan, Brian P., Linden, Matthew D., Frelinger, Andrew L., Barnard, Marc R., Spencer-Manzon, Michele, Morris, James E., Salem, Raneem O., Laposata, Michael, Michelson, Alan D.
Published in Blood (15.06.2005)
Published in Blood (15.06.2005)
Get full text
Journal Article