The Deciphering Developmental Disorders (DDD) study

Developmental Medicine and Child Neurology
Helen V FirthDDD Study

Abstract

No abstract listed.

References

Jun 13, 2008·The Journal of Law, Medicine & Ethics : a Journal of the American Society of Law, Medicine & Ethics·Susan M WolfBenjamin S Wilfond
Apr 7, 2009·American Journal of Human Genetics·Helen V FirthNigel P Carter
Apr 24, 2010·Clinical Genetics·P N Robinson, S Mundlos
Sep 14, 2010·Early Human Development·A H Bittles, M L Black
Sep 18, 2010·Human Molecular Genetics·Sarah B NgJay Shendure
Oct 22, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Melanie ManningUNKNOWN Professional Practice and Guidelines Committee
Oct 29, 2010·Nature·UNKNOWN 1000 Genomes Project ConsortiumGil A McVean
Nov 16, 2010·Nature Genetics·Lisenka E L M VissersJoris A Veltman

❮ Previous
Next ❯

Citations

Sep 15, 2012·Brain : a Journal of Neurology·Krishna ChinthapalliSanjay M Sisodiya
Oct 8, 2013·Briefings in Functional Genomics·Cornelia DornSilke R Sperling
Aug 1, 2014·Pediatric Neurology·Andres Jimenez-Gomez, Shannon M Standridge
Jan 1, 2014·Journal of Clinical Medicine·Fiona L MackieMark D Kilby
Nov 13, 2013·Nucleic Acids Research·Sebastian KöhlerPeter N Robinson
Jul 3, 2013·American Journal of Medical Genetics. Part a·Anna MiddletonUNKNOWN DDD Study
Mar 15, 2012·Human Mutation·Paul N Schofield, John M Hancock
Apr 10, 2014·American Journal of Medical Genetics. Part a·Michiala CafferkeyCaroline Ogilvie
Mar 25, 2014·Current Opinion in Genetics & Development·Gabriel Balmus, Rebecca E McIntyre
Apr 15, 2016·Human Genetics·Stefan H LelieveldChristian Gilissen
Jun 27, 2015·Nature Genetics·Ilkka LappalainenPaul Flicek
Jan 31, 2015·Human Molecular Genetics·Daniel A KingUNKNOWN Deciphering Developmental Disorders Study
Jun 9, 2016·Genome Biology·William McLarenFiona Cunningham
Jul 28, 2016·American Journal of Human Genetics·Cristina DiasDarren W Logan
Dec 17, 2016·Nucleic Acids Research·Tomasz GambinJames R Lupski
Dec 3, 2016·Nucleic Acids Research·Sebastian KöhlerPeter N Robinson
Nov 27, 2014·European Journal of Human Genetics : EJHG·Tamsin GannonJill Clayton-Smith
Feb 6, 2018·Nature Reviews. Genetics·Caroline F WrightHelen V Firth
Feb 1, 2018·American Journal of Medical Genetics. Part a·Ceris I OwenKatrina Tatton-Brown
Aug 7, 2018·American Journal of Medical Genetics. Part a·Henrietta LefroyDeborah J Shears
Jan 19, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jennifer E PoseyUNKNOWN Centers for Mendelian Genomics
Jan 13, 2018·European Journal of Human Genetics : EJHG·Cinthya J Zepeda-MendozaCynthia C Morton
Jul 13, 2019·Proceedings of the National Academy of Sciences of the United States of America·Veronica M PravataDaan M F van Aalten
Nov 14, 2019·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Philip J OstrowskiKatrina Tatton-Brown
Nov 13, 2019·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Philip J OstrowskiKatrina Tatton-Brown
Jul 18, 2019·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Chiara DiquigiovanniElena Bonora
May 31, 2019·Nature Communications·Anja ThormannDavid R FitzPatrick
Dec 5, 2015·Clinical Dysmorphology·John K BassettBronwyn Kerr
May 19, 2020·Annual Review of Genomics and Human Genetics·David R FitzPatrick, Helen V Firth
Jan 31, 2019·F1000Research·Flora M Joseph
Jul 30, 2019·Annals of Clinical and Translational Neurology·Jillian M CameronSamuel F Berkovic

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.