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CRISPRscan: designing highly efficient sgRNAs for CRISPR-Cas9 targeting in vivo

Nature methods, 2015-10, Vol.12 (10), p.982-988

2015

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CRISPR/Cas9 F0 Screening of Congenital Heart Disease Genes in Xenopus tropicalis

Methods in molecular biology (Clifton, N.J.), 2018-01, Vol.1865, p.163

2018

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Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects

The Journal of clinical investigation, 2020-02, Vol.130 (2), p.813-826

2020

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De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy

Journal of medical genetics, 2019-02, Vol.56 (2), p.113-122

2019

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AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia

Neurobiology of disease, 2024-08, Vol.198, p.106537, Article 106537

2024

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Forward genetics defines Xylt1 as a key, conserved regulator of early chondrocyte maturation and skeletal length

Developmental biology, 2014-01, Vol.385 (1), p.67-82

2014

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Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants

Frontiers in physiology, 2020-01, Vol.10, p.1612-1612

2020

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Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders

American journal of medical genetics. Part C, Seminars in medical genetics, 2024-08, p.e32103

2024

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Xenopus Tadpole Craniocardiac Imaging Using Optical Coherence Tomography

Cold Spring Harbor protocols, 2022-05, Vol.2022 (5), p.Pdb.prot105676

2022

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Sequence variants in DLX5, HOXD13 and 445 kb‐microduplication surrounding BTRC cause split‐hand/foot malformation in three different families

Clinical genetics, 2024-01, Vol.105 (1), p.109-111

2024

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Obtaining Xenopus tropicalis Eggs

Cold Spring Harbor protocols, 2022-04, Vol.2022 (4), p.Pdb.prot106344

2022

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Microinjection of Xenopus tropicalis Embryos

Cold Spring Harbor protocols, 2022-04, Vol.2022 (4), p.Pdb.prot107644

2022

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DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes

Journal of medical genetics, 2021-07, Vol.58 (7), p.453-464

2021

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RPSA , a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in Xenopus

Development (Cambridge), 2018-10, Vol.145 (20)

2018

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The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN‐associated AMC as a type of viable fetal akinesia deformation sequence

American journal of medical genetics. Part A, 2020-10, Vol.182 (10), p.2291-2296

2020

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Visualization and quantification of injury to the ciliated epithelium using quantitative flow imaging and speckle variance optical coherence tomography

Scientific reports, 2017-11, Vol.7 (1), p.15115-7, Article 15115

2017

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Expansion of NEUROD2 phenotypes to include developmental delay without seizures

American journal of medical genetics. Part A, 2021-04, Vol.185 (4), p.1076-1080

2021

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High-throughput fluorescence-based isolation of live C. elegans larvae

Nature protocols, 2012-08, Vol.7 (8), p.1502-1510

2012

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Uncovering buffered pleiotropy: a genome-scale screen for mel-28 genetic interactors in Caenorhabditis elegans

G3 : genes - genomes - genetics, 2014-01, Vol.4 (1), p.185-196

2014

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Automated sorting of live C. elegans using laFACS

Nature methods, 2010-06, Vol.7 (6), p.417-418

2010

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Sequence variants in DLX5, HOXD13 and 445kb‐microduplication surrounding BTRC cause split‐hand/foot malformation in three different families

Clinical genetics, 2024-01, Vol.105 (1), p.109-111

2024

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Modifiers of the mel-28 mutant phenotype include nucleoporins, DNA replication components and chromatin organizers

Developmental biology, 2010-08, Vol.344 (1), p.470-470

2010

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COVID-19-Associated Multisystem Inflammatory Syndrome in Children - United States, March-July 2020

MMWR. Morbidity and mortality weekly report, 2020-08, Vol.69 (32), p.1074-1080

2020

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Neonatal BCG Vaccination for Prevention of Allergy in Infants: The MIS BAIR Randomised Controlled Trial

Clinical and experimental allergy, 2024-09, Vol.54 (9), p.682-693

2024

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CRISPR-Cpf1 mediates efficient homology-directed repair and temperature-controlled genome editing

Nature communications, 2017-12, Vol.8 (1), p.2024-9, Article 2024

2017

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CRISPRscan: designing highly efficient sgRNAs for CRISPR-Cas9 targeting in vivo

CRISPR/Cas9 F0 Screening of Congenital Heart Disease Genes in Xenopus tropicalis

Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects

De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy

AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia

Forward genetics defines Xylt1 as a key, conserved regulator of early chondrocyte maturation and skeletal length

Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants

Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders

Xenopus Tadpole Craniocardiac Imaging Using Optical Coherence Tomography

Sequence variants in DLX5, HOXD13 and 445 kb‐microduplication surrounding BTRC cause split‐hand/foot malformation in three different families

Obtaining Xenopus tropicalis Eggs

Microinjection of Xenopus tropicalis Embryos

DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes

RPSA , a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in Xenopus

The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN‐associated AMC as a type of viable fetal akinesia deformation sequence

Visualization and quantification of injury to the ciliated epithelium using quantitative flow imaging and speckle variance optical coherence tomography

Expansion of NEUROD2 phenotypes to include developmental delay without seizures

High-throughput fluorescence-based isolation of live C. elegans larvae

Uncovering buffered pleiotropy: a genome-scale screen for mel-28 genetic interactors in Caenorhabditis elegans

Automated sorting of live C. elegans using laFACS

Sequence variants in DLX5, HOXD13 and 445kb‐microduplication surrounding BTRC cause split‐hand/foot malformation in three different families

Modifiers of the mel-28 mutant phenotype include nucleoporins, DNA replication components and chromatin organizers

COVID-19-Associated Multisystem Inflammatory Syndrome in Children - United States, March-July 2020

Neonatal BCG Vaccination for Prevention of Allergy in Infants: The MIS BAIR Randomised Controlled Trial

CRISPR-Cpf1 mediates efficient homology-directed repair and temperature-controlled genome editing

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