Explanipedia

Developmental language trajectories in children with critical CHD Open

Alexa Celeste Escapita, Anthony R. Gregg, Kelsey Lambou, Heather Watson, Lawrence Greiten , et al. · 2025

Introduction: Medical and surgical advancements have enabled a 95% survival rate for children with CHD. However, these survivors are disproportionately affected by neurodevelopmental disabilities. In particular, they have behavioural probl…

Leveraging diverse genomic data to guide equitable carrier screening: Insights from gnomAD v.4.1.0 Open

Matthew J Schmitz, Aryan Bashar, Vishal Soman, Esther A F Nkrumah, Hajer Al Mulla , et al. · 2024

Uterus Transplant in Women With Absolute Uterine-Factor Infertility Open

Giuliano Testa, Greg J. McKenna, Anji Wall, Johanna Bayer, Anthony R. Gregg , et al. · 2024

Importance Uterus transplant in women with absolute uterine-factor infertility offers the possibility of carrying their own pregnancy. Objective To determine whether uterus transplant is feasible and safe and results in births of healthy i…

Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG) Open

Saurav Guha, Honey V. Reddi, Mahmoud Aarabi, Marina T. DiStefano, Erin Wakeling , et al. · 2024

P672: Commercial cystic fibrosis carrier screening tests and coverage of the ACMG 100 recommended variants Open

Timothy Tidwell, Anthony R. Gregg, Wayne W. Grody, Michael H. Guo, Hutton M. Kearney , et al. · 2024

Pathogenic variants in the CFTR gene are associated with congenital bilateral absence of vas deferens, hereditary pancreatitis, CFTR-related disorders, and autosomal recessive cystic fibrosis (CF). The most severe of these is CF, a multisy…

Persistence Pays Off: Live Birth after Uterus Transplant, Overcoming Recurrent Pregnancy Loss with Cerclage Placement Open

Liza Johannesson, Sophie Anderson, J. Michael Putman, Robert T. Gunby, Lilly Zhang , et al. · 2023

Recipients of uterus transplantation have unique factors that may increase their risk of cervical insufficiency. This report describes a uterus transplant recipient with cervical insufficiency resulting in two second-trimester miscarriages…

Persistence Pays Off: Live Birth after Uterus Transplant, Over-coming Recurrent Pregnancy Loss with Cerclage Placement Open

Liza Johannesson, Sophie Anderson, J. Michael Putman, Robert T. Gunby, Lilly Zhang , et al. · 2023

Recipients of uterus transplantation have unique factors that may increase their risk of cervical insufficiency. This report describes a uterus transplant recipient with cervical insufficiency resulting in two second-trimester miscarriages…

Table of Contents Open

Joshua L. Deignan, Anthony R. Gregg, Wayne W. Grody, Michael Guo, Hutton M. Kearney , et al. · 2023

Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG) Open

Joshua L. Deignan, Anthony R. Gregg, Wayne W. Grody, Michael H. Guo, Hutton M. Kearney , et al. · 2023

eP468: Carrier frequency of genes associated with autosomal recessive conditions in diverse populations: Lessons learned from gnomAD and ClinVar Open

Matthew J Schmitz, Mahmoud Aarabi, Ali Bashar, Aleksandar Rajkovic, Anthony R. Gregg , et al. · 2022

Correction to: Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG) Open

Anthony R. Gregg, Mahmoud Aarabi, Susan Klugman, Natalia T. Leach, Michael T. Bashford , et al. · 2021

Table of Contents Open

Charles W. Nager, Anthony G. Visco, Holly E. Richter, Charles R. Rardin, Yuko M. Komesu , et al. · 2021

Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG) Open

Anthony R. Gregg, Mahmoud Aarabi, Susan Klugman, Natalia T. Leach, Michael T. Bashford , et al. · 2021

917 Pregnancy outcomes following uterus transplant Open

Elizabeth A. Eagle, Johannesson Liza, Anthony R. Gregg, Benjamin K. Kogutt, Zachary Rubeo , et al. · 2021

LIVE BIRTHS AFTER UTERUS TRANSPLANTATION: REPORT OF THE FIRST SIX DELIVERIES AT A SINGLE CENTER—DUETS (DALLAS UTERUS TRANSPLANT STUDY) Open

Liza Johannesson, J. Michael Putman, Lilly Zhang, E. Colin Koon, Zachary Rubeo , et al. · 2020

Diabetes Leads to Alterations in Normal Metabolic Transitions of Pregnancy as Revealed by Time-Course Metabolomics Open

Jacquelyn M. Walejko, Anushka Chelliah, Maureen Keller‐Wood, Clive Wasserfall, Mark A. Atkinson , et al. · 2020

Women with diabetes during pregnancy are at increased risk of poor maternal and neonatal outcomes. Despite this, the effects of pre-gestational (PGDM) or gestational diabetes (GDM) on metabolism during pregnancy are not well understood. In…

Message from ACMG President: overcoming disparities Open

Anthony R. Gregg · 2020

CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG) Open

Joshua L. Deignan, Caroline Astbury, Garry R. Cutting, Daniela del Gaudio, Anthony R. Gregg , et al. · 2020

Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG) Open

Glenn E. Palomaki, Caleb Bupp, Anthony R. Gregg, Mary E. Norton, Devin Oglesbee , et al. · 2019

Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations Open

Brian G. Skotko, Megan Allyse, Komal Bajaj, Robert G. Best, Susan Klugman , et al. · 2019

Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels Open

Michael H. Guo, Anthony R. Gregg · 2019

298: Pregnancy-related death review of ten years - Florida 2007-2016 Open

W. C. Osman Hill, Leticia Hernandez, Angela Thompson, Deborah Burch, Isaac Delke , et al. · 2018

Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels Open

Michael H. Guo, Anthony R. Gregg · 2018

Purpose Prenatal genetic carrier screening can identify parents at risk of having a child affected by a recessive condition. However, the conditions/genes most appropriate for screening remain a matter of debate. Estimates of carrier rates…

Global Metabolomics of the Placenta Reveals Distinct Metabolic Profiles between Maternal and Fetal Placental Tissues Following Delivery in Non-Labored Women Open

Jacquelyn M. Walejko, Anushka Chelliah, Maureen Keller‐Wood, Anthony R. Gregg, Arthur S. Edison · 2018

We evaluated the metabolic alterations in maternal and fetal placental tissues from non-labored women undergoing cesarean section using samples collected from 5 min to 24 h following delivery. Using 1H-NMR, we identified 14 metabolites tha…

Photoplethysmography and Heart Rate Variability for the Diagnosis of Preeclampsia Open

T. Y. Euliano, Kostas Michalopoulos, Savyasachi Singh, Anthony R. Gregg, Mariem Del Rio , et al. · 2017

BACKGROUND: The goal of this study was to determine a set of timing, shape, and statistical features available through noninvasive monitoring of maternal electrocardiogram and photoplethysmography that identifies preeclamptic patients. MET…

Monitoring Fetal Heart Rate during Labor: A Comparison of Three Methods Open

T. Y. Euliano, Shalom Darmanjian, Minh Tam Nguyen, John D. Busowski, Neil R. Euliano , et al. · 2017

The purpose of the study was to compare the accuracy of a noninvasive fetal heart rate monitor with that of ultrasound, using a fetal scalp electrode as the gold standard, in laboring women of varying body habitus, throughout labor and del…

259: Altered transcriptional and cytokine/chemokine gene expression profile from placental basal plate in subjects with preeclampsia Open

Jessica Jackson, Todd M. Brusko, Howie R. Seay, Monique Ho, Anushka Chelliah , et al. · 2016

604: Intrapartum vs postpartum metabolomics in serum and urine of diabetic mothers Open

Anushka Chelliah, Jacquelyn M. Walejko, Gustavo Vilchez, Jessica Jackson, Kathryn Patrick , et al. · 2016

605: Metabolomic alterations in pregestational diabetic placentas at term Open

Anushka Chelliah, Jacquelyn M. Walejko, Monique Ho, Maureen Keller‐Wood, Ray Bahado‐Singh , et al. · 2016

Revisiting the challenges of training Maternal Fetal Medicine fellows in chorionic villus sampling Open

Barrie Suskin, Anthony M. Sciscione, Nickolas Teigen, Thomas C. Jenkins, Ronald J. Wapner , et al. · 2016

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