Rachel P. Berger - Publications

2q13 Distal Microdeletion: Considering Evidence for an Emerging Syndrome Versus Susceptibility Locus: Twenty-Five New Cases and Review of the Literature.

Journal: American journal of medical genetics. Part A

Published: July 09, 2024

Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses.

Journal: Prenatal diagnosis

Published: January 14, 2024

High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses.

Journal: Prenatal diagnosis

Published: April 14, 2021

Microdeletion of 16q24.1-q24.2-A unique etiology of Lymphedema-Distichiasis syndrome and neurodevelopmental disorder.

Journal: American journal of medical genetics. Part A

Published: April 01, 2021

Benefit versus risk of chromosomal microarray analysis performed in pregnancies with normal and positive prenatal screening results: A retrospective study.

Journal: PloS one

Published: December 05, 2020

Isolated ventricular septal defects demonstrated by fetal echocardiography: prenatal course and postnatal outcome.

Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

Published: January 14, 2020

Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A.

Journal: Clinical and translational gastroenterology

Published: July 02, 2019

PECARN abdominal injury rule should exclude potentially abused children.

Journal: Annals of emergency medicine

Published: February 15, 2013