The evolving landscape of expanded carrier screening: challenges and opportunities
Carrier screening allows individuals to learn their chance of passing on an autosomal or X-
linked condition to their offspring. Initially introduced as single-disease, ancestry-based …
linked condition to their offspring. Initially introduced as single-disease, ancestry-based …
Copy number and SNP arrays in clinical diagnostics
CP Schaaf, J Wiszniewska… - Annual review of …, 2011 - annualreviews.org
The ability of chromosome microarray analysis (CMA) to detect submicroscopic genetic
abnormalities has revolutionized the clinical diagnostic approach to individuals with …
abnormalities has revolutionized the clinical diagnostic approach to individuals with …
[HTML][HTML] Phenylalanine hydroxylase deficiency: diagnosis and management guideline
Phenylalanine hydroxylase deficiency, traditionally known as phenylketonuria, results in the
accumulation of phenylalanine in the blood of affected individuals and was the first inborn …
accumulation of phenylalanine in the blood of affected individuals and was the first inborn …
Carrier testing for severe childhood recessive diseases by next-generation sequencing
Of 7028 disorders with suspected Mendelian inheritance, 1139 are recessive and have an
established molecular basis. Although individually uncommon, Mendelian diseases …
established molecular basis. Although individually uncommon, Mendelian diseases …
Responsible implementation of expanded carrier screening
This document of the European Society of Human Genetics contains recommendations
regarding responsible implementation of expanded carrier screening. Carrier screening is …
regarding responsible implementation of expanded carrier screening. Carrier screening is …
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals
GA Lazarin, IS Haque, S Nazareth, K Iori… - Genetics in …, 2013 - nature.com
Purpose: Recent developments in genomics have led to expanded carrier screening panels
capable of assessing hundreds of causal mutations for genetic disease. This new …
capable of assessing hundreds of causal mutations for genetic disease. This new …
Expanded carrier screening for monogenic disorders: where are we now?
Background Expanded carrier screening (ECS), which can identify carriers of a large
number of recessive disorders in the general population, has grown in popularity and is now …
number of recessive disorders in the general population, has grown in popularity and is now …
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes
Genome sequencing can identify individuals in the general population who harbor rare
coding variants in genes for Mendelian disorders,,,,,, and who may consequently have …
coding variants in genes for Mendelian disorders,,,,,, and who may consequently have …
[BOOK][B] Creasy and Resnik's maternal-Fetal medicine: Principles and practice E-book
R Resnik, RK Creasy, JD Iams, CJ Lockwood, T Moore… - 2008 - books.google.com
In your practice, you require advanced knowledge of the obstetrical, medical, genetic and
surgical complications of pregnancy and their effects on the mother and fetus. With both …
surgical complications of pregnancy and their effects on the mother and fetus. With both …
Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases
With the increased international focus on personalized health care and preventive medicine,
next-generation sequencing (NGS) has substantially expanded the options for carrier …
next-generation sequencing (NGS) has substantially expanded the options for carrier …