| scholarly article | Q13442814 |
| P2093 | author name string | Anita M Quintana | |
| P2860 | cites work | Initial sequencing and comparative analysis of the mouse genome | Q22122521 |
| Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss | Q24295008 | ||
| A single ataxia telangiectasia gene with a product similar to PI-3 kinase | Q24323579 | ||
| RNA-guided human genome engineering via Cas9 | Q24598394 | ||
| Exome sequencing identifies the cause of a mendelian disorder | Q24607742 | ||
| Efficient genome editing in zebrafish using a CRISPR-Cas system | Q24610828 | ||
| Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome | Q24622470 | ||
| A TALE of two nucleases: gene targeting for the masses? | Q24635945 | ||
| Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product | Q24649741 | ||
| Notch signaling: an emerging therapeutic target for cancer treatment | Q26784068 | ||
| Zebrafish as an emerging model for studying complex brain disorders | Q26824393 | ||
| The super elongation complex (SEC) and MLL in development and disease | Q27692038 | ||
| A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1 | Q28115843 | ||
| A histone H3 lysine 27 demethylase regulates animal posterior development | Q28248320 | ||
| Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome | Q28256091 | ||
| A simple cipher governs DNA recognition by TAL effectors | Q28265506 | ||
| An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1 | Q28298001 | ||
| Identification of the cystic fibrosis gene: genetic analysis | Q29614402 | ||
| The diverse functions of histone lysine methylation | Q29614523 | ||
| The zebrafish reference genome sequence and its relationship to the human genome | Q29616593 | ||
| The Tol2kit: a multisite gateway-based construction kit for Tol2 transposon transgenesis constructs | Q29618810 | ||
| Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease | Q29619085 | ||
| Neuronal activity biases axon selection for myelination in vivo | Q30645467 | ||
| Data mining of public SNP databases for the selection of intragenic SNPs | Q30717630 | ||
| In vivo time-lapse imaging shows dynamic oligodendrocyte progenitor behavior during zebrafish development. | Q30827923 | ||
| Comparative genomics provides evidence for an ancient genome duplication event in fish | Q33772352 | ||
| Epigenetic regulator MLL2 shows altered expression in cancer cell lines and tumors from human breast and colon | Q33884352 | ||
| Reverse genetics in zebrafish by TILLING. | Q33974209 | ||
| Mutant generation in vertebrate model organisms by TILLING. | Q33976729 | ||
| Transgenesis in fish | Q34015701 | ||
| Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency | Q34057213 | ||
| A mutation screen in patients with Kabuki syndrome | Q34186982 | ||
| Transcription activator-like effector nucleases (TALENs): a highly efficient and versatile tool for genome editing | Q34333858 | ||
| Morpholino, siRNA, and S-DNA compared: impact of structure and mechanism of action on off-target effects and sequence specificity | Q34618545 | ||
| Controlling morpholino experiments: don't stop making antisense. | Q34769101 | ||
| Clinical exome sequencing for genetic identification of rare Mendelian disorders | Q34782655 | ||
| Morpholino artifacts provide pitfalls and reveal a novel role for pro-apoptotic genes in hindbrain boundary development | Q35036609 | ||
| Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression | Q35341241 | ||
| Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome | Q35524938 | ||
| Defining "mutation" and "polymorphism" in the era of personal genomics | Q35691099 | ||
| TILLING. Traditional mutagenesis meets functional genomics. | Q35779583 | ||
| Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development | Q35821188 | ||
| Drosophila, the golden bug, emerges as a tool for human genetics | Q35998774 | ||
| Target-based drug discovery: is something wrong? | Q36046572 | ||
| Fbxw7 regulates Notch to control specification of neural precursors for oligodendrocyte fate | Q36116425 | ||
| Transposon tools and methods in zebrafish | Q36234847 | ||
| A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability | Q36358451 | ||
| Global identification of MLL2-targeted loci reveals MLL2's role in diverse signaling pathways | Q36378382 | ||
| Human monogenic disorders - a source of novel drug targets | Q36420699 | ||
| Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate | Q36770275 | ||
| Invertebrate animal models of diseases as screening tools in drug discovery | Q36800397 | ||
| HCFC1 is a common component of active human CpG-island promoters and coincides with ZNF143, THAP11, YY1, and GABP transcription factor occupancy. | Q36889283 | ||
| Heritable custom genomic modifications in Caenorhabditis elegans via a CRISPR-Cas9 system | Q37269749 | ||
| Mutation of 3-hydroxy-3-methylglutaryl CoA synthase I reveals requirements for isoprenoid and cholesterol synthesis in oligodendrocyte migration arrest, axon wrapping, and myelin gene expression. | Q37603790 | ||
| Exome sequencing identifies frequent mutation of MLL2 in non-small cell lung carcinoma from Chinese patients | Q37738412 | ||
| Inducing high rates of targeted mutagenesis in zebrafish using zinc finger nucleases (ZFNs). | Q37909159 | ||
| Targeted mutagenesis of zebrafish: use of zinc finger nucleases | Q37935723 | ||
| Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders | Q38029472 | ||
| The CRISPR system--keeping zebrafish gene targeting fresh | Q38093832 | ||
| The promise and challenges of next-generation genome sequencing for clinical care | Q38161772 | ||
| Exome sequencing greatly expedites the progressive research of Mendelian diseases | Q38175288 | ||
| A morpholino-based screen to identify novel genes involved in craniofacial morphogenesis | Q38316531 | ||
| The cancer COMPASS: navigating the functions of MLL complexes in cancer | Q38385558 | ||
| Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. | Q38439221 | ||
| Exome sequencing and whole genome sequencing for the detection of copy number variation | Q38531649 | ||
| Towards Personalized Regenerative Cell Therapy: Mesenchymal Stem Cells Derived from Human Induced Pluripotent Stem Cells | Q38552249 | ||
| An inducible transgene reports activation of macrophages in live zebrafish larvae. | Q38858770 | ||
| Altered expression of MLL methyltransferase family genes in breast cancer. | Q39141385 | ||
| Genome editing in human stem cells | Q39938439 | ||
| Patient derived cell culture and isolation of CD133⁺ putative cancer stem cells from melanoma | Q40128801 | ||
| Targeted Mutagenesis in Zebrafish Using CRISPR RNA-Guided Nucleases | Q40932206 | ||
| Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder. | Q41196885 | ||
| Structural evidence for the authenticity of the human retinoblastoma gene | Q41344591 | ||
| Linkage analysis of genetic disorders. | Q41368047 | ||
| Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder | Q41928808 | ||
| Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type | Q41931659 | ||
| Mutational and expressional analysis of MLL genes in gastric and colorectal cancers with microsatellite instability | Q44189674 | ||
| Neurodevelopment. Live imaging of adult neural stem cell behavior in the intact and injured zebrafish brain | Q48083022 | ||
| HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain | Q48297013 | ||
| Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria | Q50335695 | ||
| Transgenesis in zebrafish with the tol2 transposon system. | Q50591662 | ||
| Generation of Targeted Mutations in Zebrafish Using the CRISPR/Cas System. | Q50944620 | ||
| [Novel signal transduction pathways: the molecular basis for targeted cancer therapies in Hedgehog/Notch/Wnt pathway]. | Q53576687 | ||
| An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. | Q55521682 | ||
| MLL2 and KDM6A mutations in patients with Kabuki syndrome | Q59697631 | ||
| FDA publishes analysis of the pipeline problem | Q80109006 | ||
| Linkage and association: basic concepts | Q80930851 | ||
| Docetaxel Resistance in Prostate Cancer: Taking It Up a Notch | Q85980488 | ||
| P433 | issue | 8 | |
| P921 | main subject | medical genetics | Q1071953 |
| P577 | publication date | 2015-11-01 | |
| P1433 | published in | Medical research archives | Q27726857 |
| P1476 | title | The necessity for in vivo functional analysis in human medical genetics | |
| P478 | volume | 2 |
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