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Author Details

Mustafa K Khokha
Yale University School of Medicine
1992
110
30
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37776184Sequence variants in DLX5, HOXD13 and 445â¿¿kb-microduplication surrounding BTRC cause split-hand/foot malformation in three different families.Clin Genet2024
36572140Mink1 regulates spemann organizer cell fate in the xenopus gastrula via Hmga2.Dev Biol2023
37673063Mitochondrial leak metabolism induces the Spemann-Mangold Organizer via Hif-1α in Xenopus.Dev Cell2023
37277326Author Correction: Membrane potential drives the exit from pluripotency and cell fate commitment via calcium and mTOR.Nat Commun2023
37172641CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability.Dev Biol2023
34031209Obtaining <i>Xenopus tropicalis</i> Eggs.Cold Spring Harb Protoc2022
36335122Membrane potential drives the exit from pluripotency and cell fate commitment via calcium and mTOR.Nat Commun2022
35899841A retrospective cohort analysis of the Yale pediatric genomics discovery program.Am J Med Genet A2022
36300792Kap-β2/Transportin mediates β-catenin nuclear transport in Wnt signaling.Elife2022
34244348Microinjection of <i>Xenopus tropicalis</i> Embryos.Cold Spring Harb Protoc2022
34031213Obtaining <i>Xenopus tropicalis</i> Embryos by Natural Mating.Cold Spring Harb Protoc2022
34031212Obtaining <i>Xenopus tropicalis</i> Embryos by In Vitro Fertilization.Cold Spring Harb Protoc2022
34031211<i>Xenopus</i> Tadpole Craniocardiac Imaging Using Optical Coherence Tomography.Cold Spring Harb Protoc2022
34031210Raising and Maintaining <i>Xenopus tropicalis</i> from Tadpole to Adult.Cold Spring Harb Protoc2022
32631816<i>DLG5</i> variants are associated with multiple congenital anomalies including ciliopathy phenotypes.J Med Genet2021
33876311Functional testing for variant prioritization in a family with long QT syndrome.Mol Genet Genomics2021
34887573PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans.Nat Med2021
34411509A convergent molecular network underlying autism and congenital heart disease.Cell Syst2021
34184636Mechanical stretch scales centriole number to apical area via Piezo1 in multiciliated cells.Elife2021
34074532Xenopus as a platform for discovery of genes relevant to human disease.Curr Top Dev Biol2021
33438828Expansion of NEUROD2 phenotypes to include developmental delay without seizures.Am J Med Genet A2021
33065118Nucleoporin NUP205 plays a critical role in cilia and congenital disease.Dev Biol2021
32341405De novo damaging variants associated with congenital heart diseases contribute to the connectome.Sci Rep2020
33615072Recessive Mutations in <i>SYNPO2</i> as a Candidate of Monogenic Nephrotic Syndrome.Kidney Int Rep2020
31904590Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects.J Clin Invest2020
32047215Author Correction: Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus.Sci Rep2020
32038292Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous <i>TNNC1</i> Variants.Front Physiol2020
33168578Challenges and opportunities at the interface of birth defects, human genetics and developmental biology.Development2020
33232676DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.Am J Hum Genet2020
32891193Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.Am J Hum Genet2020
32986719A nonsense variant in Rap Guanine Nucleotide Exchange Factor 5 (RAPGEF5) is associated with equine familial isolated hypoparathyroidism in Thoroughbred foals.PLoS Genet2020
32813698Paired Box 9 (PAX9), the RNA polymerase II transcription factor, regulates human ribosome biogenesis and craniofacial development.PLoS Genet2020
32812332The 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 A2020
32211895Differential turnover of Nup188 controls its levels at centrosomes and role in centriole duplication.J Cell Biol2020
32435055Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome.J Hum Genet2020
32196547Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.Hum Mol Genet2020
30289850Whole-Exome Sequencing of Adult and Pediatric Cohorts of the Rare Vascular Disorder Systemic Capillary Leak Syndrome.Shock2019
29935219Patients with common variable immunodeficiency with autoimmune cytopenias exhibit hyperplastic yet inefficient germinal center responses.J Allergy Clin Immunol2019
31360598Gaussian process post-processing for particle tracking velocimetry.Biomed Opt Express2019
31235600Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility.Proc Natl Acad Sci U S A2019
31234044Genes and mechanisms of heterotaxy: patients drive the search.Curr Opin Genet Dev2019
31315584Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report.BMC Nephrol2019
31398317Alkylglycerol monooxygenase, a heterotaxy candidate gene, regulates left-right patterning via Wnt signaling.Dev Biol2019
31620018Quantitative Phenotyping of <i>Xenopus</i> Embryonic Heart Pathophysiology Using Hemoglobin Contrast Subtraction Angiography to Screen Human Cardiomyopathies.Front Physiol2019
31417417Xenopus: Driving the Discovery of Novel Genes in Patient Disease and Their Underlying Pathological Mechanisms Relevant for Organogenesis.Front Physiol2019
30980799A chromosome-scale genome assembly and dense genetic map for Xenopus tropicalis.Dev Biol2019
30996265Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus.Sci Rep2019
30323019De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy.J Med Genet2019
29290587RAPGEF5 Regulates Nuclear Translocation of β-Catenin.Dev Cell2018
30053424The Psychiatric Cell Map Initiative: A Convergent Systems Biological Approach to Illuminating Key Molecular Pathways in Neuropsychiatric Disorders.Cell2018
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Collaborators

Richard P Lifton
The Rockefeller University
Co-authored papers 9
Emily Sempou
Yale University School of Medicine
Co-authored papers 7
Martina Brueckner
Co-authored papers 5
Friedhelm Hildebrandt
Boston Children's Hospital
Co-authored papers 5
Shrikant Mane
Yale School of Medicine
Co-authored papers 4
John B Wallingford
University of Texas
Co-authored papers 3
Richard W Pierce
Yale School of Medicine
Co-authored papers 3
Cynthia Zerillo
Co-authored papers 2
Jennifer A Doudna
Innovative Genomics Institute, University of California berkeley
Co-authored papers 2
Trey Ideker (CM4AI)
University of California San Diego
Co-authored papers 2
John D Overton
Regeneron Pharmaceuticals
Co-authored papers 2
Aaron M Zorn
Cincinnati Children's Hospital Medical Center
Co-authored papers 2
Shengqiang Shu
US Department of Energy Joint Genome Institute, Lawrence Berkeley National Laboratory
Co-authored papers 2
Arthur Jeremy Willsey
University of California san francisco
Co-authored papers 2
Elaine H Zackai
Children's Hospital of Philadelphia
Co-authored papers 2
Helen Rankin Willsey
University of California san francisco
Co-authored papers 2
Asaf Salamov
US Department of Energy Joint Genome Institute, Lawrence Berkeley National Laboratory
Co-authored papers 1
Nevan J Krogan (CM4AI)
University of California San Francisco
Co-authored papers 1
Graeme W Davis
Kavli Institute for Fundamental Neuroscience, University of California san francisco
Co-authored papers 1
Ian D Krantz
Children's Hospital of Philadelphia
Co-authored papers 1
Shin Lin
University of Washington School of Medicine
Co-authored papers 1
Christine E Seidman
Brigham and Women's Hospital (Y.K.
Co-authored papers 1
David A Agard
University of California, USA Quantitative Biosciences Institute (QBI) san francisco
Co-authored papers 1
Vikaas S Sohal
University of California san francisco
Co-authored papers 1
Charu Deshpande
Guy's Hospital
Co-authored papers 1
Li Gan
Helen and Robert Appel Alzheimer's Disease Research Institute
Co-authored papers 1
Yuan Mei
University of California
Co-authored papers 1
Thomas M Deserno
PLRI Institute for Medical Informatics of TU Braunschweig and Hannover Medical School
Co-authored papers 1
Mark von Zastrow
University of California san francisco
Co-authored papers 1
Monkol Lek
Co-authored papers 1
Release 1.2