CRISPR/Cas9 F0 Screening of Congenital Heart Disease Genes in Xenopus tropicalis
Deniz, Engin, Mis, Emily K, Lane, Maura, Khokha, Mustafa K
Published in Methods in molecular biology (Clifton, N.J.) (01.01.2018)
Published in Methods in molecular biology (Clifton, N.J.) (01.01.2018)
Get more information
Journal Article
Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects
Marquez, Jonathan, Criscione, June, Charney, Rebekah M, Prasad, Maneeshi S, Hwang, Woong Y, Mis, Emily K, García-Castro, Martín I, Khokha, Mustafa K
Published in The Journal of clinical investigation (01.02.2020)
Published in The Journal of clinical investigation (01.02.2020)
Get full text
Journal Article
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy
Sega, Annalisa G, Mis, Emily K, Lindstrom, Kristin, Mercimek-Andrews, Saadet, Ji, Weizhen, Cho, Megan T, Juusola, Jane, Konstantino, Monica, Jeffries, Lauren, Khokha, Mustafa K, Lakhani, Saquib Ali
Published in Journal of medical genetics (01.02.2019)
Published in Journal of medical genetics (01.02.2019)
Get full text
Journal Article
AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia
Diarra, Salimata, Ghosh, Saikat, Cissé, Lassana, Coulibaly, Thomas, Yalcouyé, Abdoulaye, Harmison, George, Diallo, Salimata, Diallo, Seybou H., Coulibaly, Oumar, Schindler, Alice, Cissé, Cheick A.K., Maiga, Alassane B., Bamba, Salia, Samassekou, Oumar, Khokha, Mustafa K., Mis, Emily K., Lakhani, Saquib A., Donovan, Frank X., Jacobson, Steve, Blackstone, Craig, Guinto, Cheick O., Landouré, Guida, Bonifacino, Juan S., Fischbeck, Kenneth H., Grunseich, Christopher
Published in Neurobiology of disease (01.08.2024)
Published in Neurobiology of disease (01.08.2024)
Get full text
Journal Article
Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants
Landim-Vieira, Maicon, Johnston, Jamie R, Ji, Weizhen, Mis, Emily K, Tijerino, Joshua, Spencer-Manzon, Michele, Jeffries, Lauren, Hall, E Kevin, Panisello-Manterola, David, Khokha, Mustafa K, Deniz, Engin, Chase, P Bryant, Lakhani, Saquib A, Pinto, Jose Renato
Published in Frontiers in physiology (22.01.2020)
Published in Frontiers in physiology (22.01.2020)
Get full text
Journal Article
Neurotoxicity of perineural vs intraneural–extrafascicular injection of liposomal bupivacaine in the porcine model of sciatic nerve block
Damjanovska, M., Cvetko, E., Hadzic, A., Seliskar, A., Plavec, T., Mis, K., Vuckovic Hasanbegovic, I., Stopar Pintaric, T.
Published in Anaesthesia (01.12.2015)
Published in Anaesthesia (01.12.2015)
Get full text
Journal Article
Evaluation of a focused sentinel lymph node protocol in node-negative gastric cancer patients
Jagric, T, Ivanecz, A, Horvat, M, Plankl, M, Kavalar, R, Kavalar, S, Mis, K, Mars, T
Published in Hepato-gastroenterology (01.07.2013)
Published in Hepato-gastroenterology (01.07.2013)
Get more information
Journal Article
Expression of glucocorticoid receptors in the regenerating human skeletal muscle
Filipović, D, Pirkmajer, S, Mis, K, Mars, T, Grubic, Z
Published in Physiological research (01.01.2011)
Published in Physiological research (01.01.2011)
Get full text
Journal Article
Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders
Bibi, Anisa, Ji, Weizhen, Jeffries, Lauren, Zerillo, Cynthia, Konstantino, Monica, Mis, Emily K, Khursheed, Filza, Khokha, Mustafa K, Lakhani, Saquib A, Malik, Sajid
Published in American journal of medical genetics. Part C, Seminars in medical genetics (17.08.2024)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (17.08.2024)
Get full text
Journal Article
Xenopus Tadpole Craniocardiac Imaging Using Optical Coherence Tomography
Deniz, Engin, Mis, Emily K, Lane, Maura, Khokha, Mustafa K
Published in Cold Spring Harbor protocols (01.05.2022)
Published in Cold Spring Harbor protocols (01.05.2022)
Get more information
Journal Article
Sequence variants in DLX5, HOXD13 and 445 kb‐microduplication surrounding BTRC cause split‐hand/foot malformation in three different families
Abdullah, Hussain, Shabir, Ji, Weizhen, Khan, Hammal, Mis, Emily K., Mushtaq, Rabiha, Chodhary, Mirub, Raza, Muhammad Hassan, Jan, Abid, Ullah, Imran, Khokha, Mustafa K., Lakhani, Saquib A., Ahmad, Wasim
Published in Clinical genetics (01.01.2024)
Published in Clinical genetics (01.01.2024)
Get full text
Journal Article
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes
Marquez, Jonathan, Mann, Nina, Arana, Kathya, Deniz, Engin, Ji, Weizhen, Konstantino, Monica, Mis, Emily K, Deshpande, Charu, Jeffries, Lauren, McGlynn, Julie, Hugo, Hannah, Widmeier, Eugen, Konrad, Martin, Tasic, Velibor, Morotti, Raffaella, Baptista, Julia, Ellard, Sian, Lakhani, Saquib Ali, Hildebrandt, Friedhelm, Khokha, Mustafa K
Published in Journal of medical genetics (01.07.2021)
Published in Journal of medical genetics (01.07.2021)
Get full text
Journal Article
RPSA , a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in Xenopus
Griffin, John N, Sondalle, Samuel B, Robson, Andrew, Mis, Emily K, Griffin, Gerald, Kulkarni, Saurabh S, Deniz, Engin, Baserga, Susan J, Khokha, Mustafa K
Published in Development (Cambridge) (18.10.2018)
Published in Development (Cambridge) (18.10.2018)
Get full text
Journal Article
The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN‐associated AMC as a type of viable fetal akinesia deformation sequence
Mis, Emily K., Al‐Ali, Samir, Ji, Weizhen, Spencer‐Manzon, Michele, Konstantino, Monica, Khokha, Mustafa K., Jeffries, Lauren, Lakhani, Saquib A.
Published in American journal of medical genetics. Part A (01.10.2020)
Published in American journal of medical genetics. Part A (01.10.2020)
Get full text
Journal Article
Functional innervation of cultured human skeletal muscle proceeds by two modes with regard to agrin effects
Mars, T, King, M.P, Miranda, A.F, Walker, W.F, Mis, K, Grubic, Z
Published in Neuroscience (01.01.2003)
Published in Neuroscience (01.01.2003)
Get full text
Journal Article
Expansion of NEUROD2 phenotypes to include developmental delay without seizures
Mis, Emily K., Sega, Annalisa G., Signer, Rebecca H., Cartwright, Tracy, Ji, Weizhen, Martinez‐Agosto, Julian A., Nelson, Stanley F., Palmer, Christina G. S., Lee, Hane, Mitzelfelt, Thomas, Konstantino, Monica, Jeffries, Lauren, Khokha, Mustafa K., Marco, Elysa, Martin, Martin G., Lakhani, Saquib A.
Published in American journal of medical genetics. Part A (01.04.2021)
Published in American journal of medical genetics. Part A (01.04.2021)
Get full text
Journal Article