Literature DB >> 21679367

The Deciphering Developmental Disorders (DDD) study.

Helen V Firth1, Caroline F Wright.   

Abstract

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Year:  2011        PMID： 21679367     DOI： 10.1111/j.1469-8749.2011.04032.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN： 0012-1622            Impact factor:   5.449


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  68 in total

1.  Phosphoinositide binding by the PH domain in ceramide transfer protein (CERT) is inhibited by hyperphosphorylation of an adjacent serine-repeat motif.

Authors:  Toshihiko Sugiki; Daichi Egawa; Keigo Kumagai; Chojiro Kojima; Toshimichi Fujiwara; Koh Takeuchi; Ichio Shimada; Kentaro Hanada; Hideo Takahashi
Journal:  J Biol Chem       Date:  2018-05-30       Impact factor: 5.157

Review 2.  Paediatric genomics: diagnosing rare disease in children.

Authors:  Caroline F Wright; David R FitzPatrick; Helen V Firth
Journal:  Nat Rev Genet       Date:  2018-02-05       Impact factor: 53.242

3.  Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin.

Authors:  Cinthya J Zepeda-Mendoza; Alexandra Bardon; Tammy Kammin; David J Harris; Helen Cox; Claire Redin; Zehra Ordulu; Michael E Talkowski; Cynthia C Morton
Journal:  Eur J Hum Genet       Date:  2018-01-10       Impact factor: 4.246

4.  Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.

Authors:  Karin Weiss; Kristen Wigby; Madeleine Fannemel; Lindsay B Henderson; Natalie Beck; Neeti Ghali; D D D Study; Britt-Marie Anderlid; Johanna Lundin; Ada Hamosh; Marilyn C Jones; Sondhya Ghedia; Maximilian Muenke; Paul Kruszka
Journal:  Eur J Hum Genet       Date:  2017-05-17       Impact factor: 4.246

5.  Neuroimaging Findings in Patients with EBF3 Mutations: Report of Two Cases.

Authors:  Mar Jiménez de la Peña; Ana Jiménez de Domingo; Pilar Tirado; Beatriz Calleja-Pérez; Luis A Alcaraz; Sara Álvarez; Jonathan Williams; James R Hagman; Andrea H Németh; Alberto Fernández-Jaén
Journal:  Mol Syndromol       Date:  2021-04-09

6.  SET de novo frameshift variants associated with developmental delay and intellectual disabilities.

Authors:  Ruth Richardson; Miranda Splitt; Ruth Newbury-Ecob; Alice Hulbert; Joanna Kennedy; Astrid Weber
Journal:  Eur J Hum Genet       Date:  2018-06-15       Impact factor: 4.246

Review 7.  DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders.

Authors:  Ganesh J Swaminathan; Eugene Bragin; Eleni A Chatzimichali; Manuel Corpas; A Paul Bevan; Caroline F Wright; Nigel P Carter; Matthew E Hurles; Helen V Firth
Journal:  Hum Mol Genet       Date:  2012-09-08       Impact factor: 6.150

Review 8.  Using Drosophila to drive the diagnosis and understand the mechanisms of rare human diseases.

Authors:  Nichole Link; Hugo J Bellen
Journal:  Development       Date:  2020-09-28       Impact factor: 6.868

9.  De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.

Authors:  Karin Weiss; Paulien A Terhal; Lior Cohen; Michael Bruccoleri; Melita Irving; Ariel F Martinez; Jill A Rosenfeld; Keren Machol; Yaping Yang; Pengfei Liu; Magdalena Walkiewicz; Joke Beuten; Natalia Gomez-Ospina; Katrina Haude; Chin-To Fong; Gregory M Enns; Jonathan A Bernstein; Judith Fan; Garrett Gotway; Mohammad Ghorbani; Koen van Gassen; Glen R Monroe; Gijs van Haaften; Lina Basel-Vanagaite; Xiang-Jiao Yang; Philippe M Campeau; Maximilian Muenke
Journal:  Am J Hum Genet       Date:  2016-09-08       Impact factor: 11.025

10.  Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response.

Authors:  Jennifer L Johnson; Loredana Stoica; Yuwei Liu; Ping Jun Zhu; Abhisek Bhattacharya; Shelly A Buffington; Redwan Huq; N Tony Eissa; Ola Larsson; Bo T Porse; Deepti Domingo; Urwah Nawaz; Renee Carroll; Lachlan Jolly; Tom S Scerri; Hyung-Goo Kim; Amanda Brignell; Matthew J Coleman; Ruth Braden; Usha Kini; Victoria Jackson; Anne Baxter; Melanie Bahlo; Ingrid E Scheffer; David J Amor; Michael S Hildebrand; Penelope E Bonnen; Christine Beeton; Jozef Gecz; Angela T Morgan; Mauro Costa-Mattioli
Journal:  Neuron       Date:  2019-10-01       Impact factor: 17.173
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