MustafaKezarKhokhaMD

Pediatric Critical Care Medicine

Associate Professor, Pediatrics, Yale University School of Medicine

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Office
800 Howard Ave
# Yale
New Haven, CT 06519
Phone+1 203-785-2140

Fax+1 203-785-6414

University of California (San Francisco)Fellowship, Pediatric Critical Care Medicine, 1998 - 2002
Washington University/B-JH/SLCH ConsortiumResidency, Pediatrics, 1995 - 1998
Northwestern University The Feinberg School of MedicineClass of 1995

PubMed

8 citations
Expansion of NEUROD2 phenotypes to include developmental delay without seizures.
Emily K Mis, Annalisa G Sega, Rebecca Signer, Tracy Cartwright, Weizhen Ji
American Journal of Medical Genetics. Part A. 2021-01-13
587 citations
The genome of the western clawed frog xenopus tropicalis
Uffe Hellsten, Richard M. Harland, Michael J. Gilchrist, David A. Hendrix, Jerzy Jurka
Science. 2010-04-30
104 citations
CRISPR/Cas9: An inexpensive, efficient loss of function tool to screen human disease genes in Xenopus
Dipankan Bhattacharya, Chris A. Marfo, Davis Li, Maura Lane, Mustafa K. Khokha
Developmental Biology. 2015-12-15

Journal Articles

, a Candidate Gene for Isolated Congenital Asplenia, Is Required for Pre-rRNA Processing and Spleen Formation In
Engin Deniz, Mustafa K. Khokha, Development
CRISPR/Cas9 F0 Screening of Congenital Heart Disease Genes in Xenopus Tropicalis
Engin Deniz, Mustafa K Khokha, Springer
CRISPR-Cpf1 Mediates Efficient Homology-Directed Repair and Temperature-Controlled Genome Editing
Mustafa Khokha, MD, Nature
Analysis of Craniocardiac Malformations in Xenopus Using Optical Coherence Tomography
Michael A Choma, Michael Hooper, Mustafa K Khokha, Engin Deniz, Nature
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Cedars-Sinai Guerin Children’s Builds Genome Sequencing TeamOctober 25th, 2024
Faculty Entrepreneurs Receive Research Support from Blavatnik Fund for Innovation at YaleMay 21st, 2021
The Neurodevelopmental Disorder Risk GeneJune 22nd, 2020

New mechanisms of heterotaxy and congenital heart disease: nucleoporins at ciliaNIH/NHLBI2015–2020
A systems approach to the analysis of heterotaxy candiate genesNIH/NICHD2014–2019
Developing tools to screen birth defect genesMallinckrodt Foundation2014–2018
Cardiac phenotyping of CHD genes in XenopusNIH/NHLBI2014–2016
Transcriptome Profiling And Targeted Genic Improvement Of The X. Tropicalis GenomNational Institute Of General Medical Sciences2011–2012
Craniofacial And Cardiac Development In Xenopus: A Genetic ApproachNational Institute Of Dental &Craniofacial Research2009–2012
Characterization And Cloning Of X. Tropicalis Craniofacial MutantsNational Institute Of Dental &Craniofacial Research2008–2011
Developing Transposon Methods For Insertional Mutagenesis In XenopusNational Center For Research Resources2009–2010
Role Of Gremlin In Embryonic DevelopmentEunice Kennedy Shriver National Institute Of Child Health &Human Development2006
Role Of Gremlin In Embryonic DevelopmentEunice Kennedy Shriver National Institute Of Child Health &Human Development2002–2005

Member, Xenbase Executive Committee 2012 - Present
Member, National Xenopus Resource Executive and Steering Committee 2011 - Present
Chair, Xenopus Genome Steering Committee 2010 - Present
Director, Xenopus Resources Development Committee 2009 - Present
Member, Xenopus Mutagenesis and Phenotyping Group 2002 - 2011
Member, Xenopus Tropicalis Genome Steering Committee 2002 - 2006