Dr. Khokha is on Doximity
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Office
333 Cedar Street
New Haven, CT 06520Phone+1 203-785-4651Fax+1 203-785-5833- Is this information wrong?
Education & Training
- 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
Certifications & Licensure
- CA State Medical License 1998 - Present
- CT State Medical License 2006 - 2025
- American Board of Pediatrics Pediatric Critical Care Medicine
Awards, Honors, & Recognition
- Mallinckrodt Scholar Edward Mallinckrodt, Jr. Foundation, 2014
- Mae Gailani Junior Faculty Award Yale University, 2010
- Harvey Colton Award Washington University, 2009
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Publications & Presentations
PubMed
- 1 citationsBiallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.Agrawal, P. B., Lauren Jeffries, Emily K Mis, Kirsty McWalter, Sandra Donkervoort, Nina N Brodsky, Jean-Marie Carpier, Weizhen Ji, Cristian Ionita, Bhaskar Roy, Jon S ...> ;Genetics in Medicine. 2024 Feb 1
- 6 citationsConserved chromatin and repetitive patterns reveal slow genome evolution in frogs.Bredeson, J., Mudd, A., Medina-Ruiz, S., Mitros, T., Smith, O., Miller, K., Lyons, J., Batra, S., Park, J., Berkoff, K., Plott, C., Grimwood, J., Schmutz, J., Aguirre-...> ;Nature Communications. 2024 Jan 17
- Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability.O'Brien, M., Pryzhkova, M., Lake, E., Mandino, F., Shen, X., Atkins, A., Xu, M., Ji, W., Konstantino, M., Jordan, P., Karnik, R., Brueckner, M., Ment, L., Khokha, M.> ;International Journal of Molecular Sciences. 2023 Dec 28
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Journal Articles
- , a Candidate Gene for Isolated Congenital Asplenia, Is Required for Pre-rRNA Processing and Spleen Formation InEngin Deniz, Mustafa K. Khokha, Development
- CRISPR/Cas9 F0 Screening of Congenital Heart Disease Genes in Xenopus TropicalisEngin Deniz, Mustafa K Khokha, Springer
- CRISPR-Cpf1 Mediates Efficient Homology-Directed Repair and Temperature-Controlled Genome EditingMustafa Khokha, MD, Nature
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Press Mentions
- Faculty Entrepreneurs Receive Research Support from Blavatnik Fund for Innovation at YaleMay 21st, 2021
- The Neurodevelopmental Disorder Risk GeneJune 22nd, 2020
Grant Support
- 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
Committees
- 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
Hospital Affiliations
- Yale-New Haven HospitalNew Haven, Connecticut
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