| review article | Q7318358 |
| scholarly article | Q13442814 |
| P50 | author | Hugo J. Bellen | Q22003355 |
| Lucy Liu | Q64019555 | ||
| P2093 | author name string | Hsiao-Tuan Chao | |
| P2860 | cites work | An integrated map of genetic variation from 1,092 human genomes | Q22122153 |
| Finishing the euchromatic sequence of the human genome | Q22122488 | ||
| Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 | Q22337290 | ||
| The EBF/Olf/Collier family of transcription factors: regulators of differentiation in cells originating from all three embryonal germ layers. | Q24540198 | ||
| A map of human genome variation from population-scale sequencing | Q24617794 | ||
| Prepublication data sharing | Q26283296 | ||
| Recent advances in innovative therapeutic approaches for Duchenne muscular dystrophy: from discovery to clinical trials | Q26741409 | ||
| CRISPR/Cas9: Implications for Modeling and Therapy of Neurodegenerative Diseases | Q26747564 | ||
| Optogenetics: 10 years of microbial opsins in neuroscience | Q26797268 | ||
| On the Basic Mechanisms of Infantile Spasms | Q27007516 | ||
| The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities | Q27014740 | ||
| Vigabatrin therapy implicates neocortical high frequency oscillations in an animal model of infantile spasms | Q27308034 | ||
| A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases | Q28114951 | ||
| The making of ENCODE: Lessons for big-data projects | Q28274419 | ||
| Integrative analysis of the Caenorhabditis elegans genome by the modENCODE project | Q28301622 | ||
| MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number | Q28507266 | ||
| The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine | Q40929545 | ||
| Loss and Gain of MeCP2 Cause Similar Hippocampal Circuit Dysfunction that Is Rescued by Deep Brain Stimulation in a Rett Syndrome Mouse Model | Q41065847 | ||
| Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. | Q41654108 | ||
| A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay | Q41920971 | ||
| The cultural divide: exploring communication barriers between scientists and clinicians | Q42775576 | ||
| Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome | Q43073364 | ||
| Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. | Q52087714 | ||
| The power of social networking in medicine. | Q55052279 | ||
| Recent advances using zebrafish animal models for muscle disease drug discovery | Q28551915 | ||
| The Matchmaker Exchange: a platform for rare disease gene discovery | Q28610742 | ||
| Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration | Q28910486 | ||
| A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3 | Q29147508 | ||
| De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome | Q29147516 | ||
| Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism | Q29147566 | ||
| The ENCODE (ENCyclopedia Of DNA Elements) Project | Q29547219 | ||
| A new initiative on precision medicine | Q29615654 | ||
| The zebrafish reference genome sequence and its relationship to the human genome | Q29616593 | ||
| Identification of functional elements and regulatory circuits by Drosophila modENCODE | Q29617551 | ||
| New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene | Q30487635 | ||
| Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome | Q33572334 | ||
| Zebrafish models in translational research: tipping the scales toward advancements in human health | Q33814217 | ||
| Drug screening in a zebrafish model of Duchenne muscular dystrophy. | Q33845739 | ||
| Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research | Q33906483 | ||
| The Human Genome Project: Lessons from Large-Scale Biology | Q34190016 | ||
| CGG repeats in RNA modulate expression of TDP-43 in mouse and fly models of fragile X tremor ataxia syndrome | Q34379046 | ||
| Clinical whole-exome sequencing for the diagnosis of mendelian disorders | Q34413680 | ||
| Glial lipid droplets and ROS induced by mitochondrial defects promote neurodegeneration | Q34458474 | ||
| The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension | Q34494375 | ||
| Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and Pdk1/Mef2 activation, leading to neurodegeneration. | Q34531992 | ||
| Loss of Frataxin activates the iron/sphingolipid/PDK1/Mef2 pathway in mammals | Q34546241 | ||
| Molecular findings among patients referred for clinical whole-exome sequencing | Q35078373 | ||
| Interpreting human genetic variation with in vivo zebrafish assays | Q35241649 | ||
| Genetic manipulation of genes and cells in the nervous system of the fruit fly. | Q35596312 | ||
| Single Molecules, Cells, and Super-Resolution Optics (Nobel Lecture). | Q35667717 | ||
| Challenges in understanding psychiatric disorders and developing therapeutics: a role for zebrafish. | Q35802879 | ||
| Engaging neuroscience to advance translational research in brain barrier biology. | Q35909313 | ||
| De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive | Q37231380 | ||
| Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism | Q37284354 | ||
| Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes | Q37342031 | ||
| 'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases | Q37599234 | ||
| Tadalafil alleviates muscle ischemia in patients with Becker muscular dystrophy. | Q37604365 | ||
| Zebrafish as a model to study cardiac development and human cardiac disease | Q37878169 | ||
| Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs | Q38454377 | ||
| MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome | Q38787050 | ||
| Morgan's legacy: fruit flies and the functional annotation of conserved genes. | Q38847852 | ||
| P921 | main subject | collaboration | Q1145523 |
| P304 | page(s) | 49-57 | |
| P577 | publication date | 2017-06-01 | |
| P1433 | published in | Seminars in Cell & Developmental Biology | Q14330411 |
| P1476 | title | Building dialogues between clinical and biomedical research through cross-species collaborations | |
| P478 | volume | 70 |
| Q92021406 | Intellectual disability and autism spectrum disorders 'on the fly': insights from Drosophila |
| Q41627953 | Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research |
| Q56814708 | Model organism data evolving in support of translational medicine |
| Q47221431 | Reverse-engineering organogenesis through feedback loops between model systems |
| Q55073551 | Scaling up to study brca2: the zeppelin zebrafish mutant reveals a role for brca2 in embryonic development of kidney mesoderm. |
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