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1.
AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia.
Neurobiol Dis
; 198: 106537, 2024 May 19.
Article
in English
| MEDLINE | ID: mdl-38772452
2.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Genet Med
; 26(2): 101023, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-37947183
3.
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes.
J Med Genet
; 58(7): 453-464, 2021 07.
Article
in English
| MEDLINE | ID: mdl-32631816
4.
RPSA, a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in Xenopus.
Development
; 145(20)2018 10 18.
Article
in English
| MEDLINE | ID: mdl-30337486
5.
Expansion of NEUROD2 phenotypes to include developmental delay without seizures.
Am J Med Genet A
; 185(4): 1076-1080, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33438828
6.
The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence.
Am J Med Genet A
; 182(10): 2291-2296, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32812332
7.
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy.
J Med Genet
; 56(2): 113-122, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30323019
8.
Sequence variants in DLX5, HOXD13 and 445 kb-microduplication surrounding BTRC cause split-hand/foot malformation in three different families.
Clin Genet
; 105(1): 109-111, 2024 01.
Article
in English
| MEDLINE | ID: mdl-37776184
9.
CRISPRscan: designing highly efficient sgRNAs for CRISPR-Cas9 targeting in vivo.
Nat Methods
; 12(10): 982-8, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-26322839
10.
Forward genetics defines Xylt1 as a key, conserved regulator of early chondrocyte maturation and skeletal length.
Dev Biol
; 385(1): 67-82, 2014 Jan 01.
Article
in English
| MEDLINE | ID: mdl-24161523
11.
Obtaining Xenopus tropicalis Eggs.
Cold Spring Harb Protoc
; 2022(4): Pdb.prot106344, 2022 04 01.
Article
in English
| MEDLINE | ID: mdl-34031209
12.
Microinjection of Xenopus tropicalis Embryos.
Cold Spring Harb Protoc
; 2022(4): Pdb.prot107644, 2022 04 01.
Article
in English
| MEDLINE | ID: mdl-34244348
13.
Xenopus Tadpole Craniocardiac Imaging Using Optical Coherence Tomography.
Cold Spring Harb Protoc
; 2022(5): Pdb.prot105676, 2022 06 07.
Article
in English
| MEDLINE | ID: mdl-34031211
14.
Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects.
J Clin Invest
; 130(2): 813-826, 2020 02 03.
Article
in English
| MEDLINE | ID: mdl-31904590
15.
Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants.
Front Physiol
; 10: 1612, 2019.
Article
in English
| MEDLINE | ID: mdl-32038292
16.
Automated sorting of live C. elegans using laFACS.
Nat Methods
; 7(6): 417-8, 2010 Jun.
Article
in English
| MEDLINE | ID: mdl-20436474
17.
CRISPR/Cas9 F0 Screening of Congenital Heart Disease Genes in Xenopus tropicalis.
Methods Mol Biol
; 1865: 163-174, 2018.
Article
in English
| MEDLINE | ID: mdl-30151766
18.
Visualization and quantification of injury to the ciliated epithelium using quantitative flow imaging and speckle variance optical coherence tomography.
Sci Rep
; 7(1): 15115, 2017 11 08.
Article
in English
| MEDLINE | ID: mdl-29118359
19.
Uncovering buffered pleiotropy: a genome-scale screen for mel-28 genetic interactors in Caenorhabditis elegans.
G3 (Bethesda)
; 4(1): 185-96, 2014 Jan 10.
Article
in English
| MEDLINE | ID: mdl-24281427
20.
High-throughput fluorescence-based isolation of live C. elegans larvae.
Nat Protoc
; 7(8): 1502-10, 2012 Jul 19.
Article
in English
| MEDLINE | ID: mdl-22814389
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