Advances in the Genetics of P arkinson's Disease: A Guide for the Clinician

UM Sheerin, H Houlden… - … disorders clinical practice, 2014 - Wiley Online Library
… We also review the advances in high- and low-risk genetic susceptibility factors and present
… of genetic testing. Finally, we consider the challenges of future genetic research in PD. …

Advances in the genetics of congenital heart disease: a clinician's guide

GM Blue, EP Kirk, E Giannoulatou, GF Sholler… - Journal of the American …, 2017 - jacc.org
Our understanding of the genetics of congenital heart disease (CHD) is rapidly expanding;
however, many questions, particularly those relating to sporadic forms of disease, remain …

Clinician's Guide for Genomics

BM Kuehn - JAMA, 2014 - jamanetwork.com
advancesguide explains several key issues. For example, because both whole-genome
and exome sequencing miss some genetic anomalies, a negative test will not rule out a genetic

A practical guide to genetic testing in endocrinology

L Izatt, MM Owens, H Pierce, S Wilcox… - Clinical …, 2022 - Wiley Online Library
… Rapid advances in sequencing technology have led to significant improvements in genomic
… Therefore additional forms and consents are required, summarized in a clinician's guide for …

[HTML][HTML] … and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and …

S Richards, N Aziz, S Bale, D Bick, S Das… - Genetics in …, 2015 - nature.com
… By virtue of increased complexity, this shift in genetic testing has … guidelines for the
interpretation of sequence variants. The group consisted of clinical laboratory directors and …

[HTML][HTML] A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for …

H Hampel, RL Bennett, A Buchanan, R Pearlman… - Genetics in …, 2015 - Elsevier
… ACMG and NSGC joint practice guidelines reflect the current … to change without notice as
advances emerge. In addition, … for clinicians who do not specialize in cancer genetics, who …

[图书][B] Cancer principles and practice of oncology: handbook of clinical cancer genetics

E Matloff - 2013 - books.google.com
clinicians to refer patients to genetics experts to ensure proper ordering and interpretation of
… , after their initial consult to discuss advances in genetic testing and changes in surveillance …

Inherited thrombocytopenias: an updated guide for clinicians

A Pecci, CL Balduini - Blood Reviews, 2021 - Elsevier
… , recent advances in the knowledge of these conditions revealed that some of the genetic
Recent advances, therefore, changed our view of ITs and we consider it appropriate to re-…

[HTML][HTML] Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions

…, Professional Practice and Guidelines Committee - Genetics in …, 2013 - Elsevier
… The guidelines in this paper have been developed to assist the clinician in the … Clearly,
advances in testing modalities improve the diagnostic yield. A review of the potential contribution …

Molecular genetic testing and the future of clinical genomics

SH Katsanis, N Katsanis - Nature Reviews Genetics, 2013 - nature.com
… and/or access to advanced instrumentation and are likely to remain … genetic technologies
requires specialized genetic training as well as broad genetic literacy for patients and clinicians