Julie Cohen

2023

A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy

Mohassel, P., Yun, P., Syeda, S., Batra, A., Bradley, A. J., Donkervoort, S., Monges, S., Cohen, J. S., Leung, D. G., Munell, F., Ortez, C., Sánchez-Montáñez, A., Karachunski, P., Brandsema, J., Medne, L., Chaudhry, V., Tasca, G., Foley, A. R., Udd, B., Arai, A. E., & 2 othersWalter, G. A. & Bönnemann, C. G., Aug 2023, In: Annals of Clinical and Translational Neurology. 10, 8, p. 1442-1455 14 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability

Calame, D. G., Moreno Vadillo, C., Berger, S., Lotze, T., Shinawi, M., Poupak, J., Heller, C., Cohen, J., Person, R., Telegrafi, A., Phitsanuwong, C., Fiala, K., Thiffault, I., Del Viso, F., Zhou, D., Fleming, E. A., Pastinen, T., Fatemi, A., Thomas, S., Pascual, S. I., & 9 othersTorres, R. J., Prior, C., Gómez-González, C., Biskup, S., Lupski, J. R., Maric, D., Holmgren, M., Regier, D. & Yano, S. T., Aug 1 2023, In: Brain. 146, 8, p. 3162-3171 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Clinical and functional consequences of GRIA variants in patients with neurological diseases

XiangWei, W., Perszyk, R. E., Liu, N., Xu, Y., Bhattacharya, S., Shaulsky, G. H., Smith-Hicks, C., Fatemi, A., Fry, A. E., Chandler, K., Wang, T., Vogt, J., Cohen, J. S., Paciorkowski, A. R., Poduri, A., Zhang, Y., Wang, S., Wang, Y., Zhai, Q., Fang, F., & 10 othersLeng, J., Garber, K., Myers, S. J., Jauss, R. T., Park, K. L., Benke, T. A., Lemke, J. R., Yuan, H., Jiang, Y. & Traynelis, S. F., Nov 2023, In: Cellular and Molecular Life Sciences. 80, 11, 345.

Research output: Contribution to journal › Article › peer-review

2022

ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection

Thomas, A. X., Link, N., Robak, L. A., Demmler-Harrison, G., Pao, E. C., Squire, A. E., Michels, S., Cohen, J. S., Comi, A., Prontera, P., Verrotti di Pianella, A., Di Cara, G., Garavelli, L., Caraffi, S. G., Fusco, C., Zuntini, R., Parks, K. C., Sherr, E. H., Hashem, M. O., Maddirevula, S., & 8 othersAlkuraya, F. S., Contractar, I. A. F., Neil, J. E., Walsh, C. A., Bellen, H. J., Chao, H. T., Clark, R. D. & Mirzaa, G. M., Aug 2022, In: Annals of Clinical and Translational Neurology. 9, 8, p. 1276-1288 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Kayumi, S., Pérez-Jurado, L. A., Palomares, M., Rangu, S., Sheppard, S. E., Chung, W. K., Kruer, M. C., Kharbanda, M., Amor, D. J., McGillivray, G., Cohen, J. S., García-Miñaúr, S., van Eyk, C. L., Harper, K., Jolly, L. A., Webber, D. L., Barnett, C. P., Santos-Simarro, F., Pacio-Míguez, M., Pozo, A. D., & 55 othersBakhtiari, S., Deardorff, M., Dubbs, H. A., Izumi, K., Grand, K., Gray, C., Mark, P. R., Bhoj, E. J., Li, D., Ortiz-Gonzalez, X. R., Keena, B., Zackai, E. H., Goldberg, E. M., Perez de Nanclares, G., Pereda, A., Llano-Rivas, I., Arroyo, I., Fernández-Cuesta, M. Á., Thauvin-Robinet, C., Faivre, L., Garde, A., Mazel, B., Bruel, A. L., Tress, M. L., Brilstra, E., Fine, A. S., Crompton, K. E., Stegmann, A. P. A., Sinnema, M., Stevens, S. C. J., Nicolai, J., Lesca, G., Lion-François, L., Haye, D., Chatron, N., Piton, A., Nizon, M., Cogne, B., Srivastava, S., Bassetti, J., Muss, C., Gripp, K. W., Procopio, R. A., Millan, F., Morrow, M. M., Assaf, M., Moreno-De-Luca, A., Joss, S., Hamilton, M. J., Bertoli, M., Foulds, N., McKee, S., MacLennan, A. H., Gecz, J. & Corbett, M. A., Nov 2022, In: Genetics in Medicine. 24, 11, p. 2351-2366 16 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis

Srivastava, S., Lewis, S. A., Cohen, J. S., Zhang, B., Aravamuthan, B. R., Chopra, M., Sahin, M., Kruer, M. C. & Poduri, A., Dec 12 2022, In: JAMA Neurology. 79, 12, p. 1287-1295 9 p.

Research output: Contribution to journal › Article › peer-review

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Undiagnosed Diseases Network, Feb 2022, In: Human mutation. 43, 2, p. 266-282 17 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2021

Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy (Nature Genetics, (2020), 52, 10, (1046-1056), 10.1038/s41588-020-0695-1)

Jin, S. C., Lewis, S. A., Bakhtiari, S., Zeng, X., Sierant, M. C., Shetty, S., Nordlie, S. M., Elie, A., Corbett, M. A., Norton, B. Y., van Eyk, C. L., Haider, S., Guida, B. S., Magee, H., Liu, J., Pastore, S., Vincent, J. B., Brunstrom-Hernandez, J., Papavasileiou, A., Fahey, M. C., & 57 othersBerry, J. G., Harper, K., Zhou, C., Zhang, J., Li, B., Zhao, H., Heim, J., Webber, D. L., Frank, M. S. B., Xia, L., Xu, Y., Zhu, D., Zhang, B., Sheth, A. H., Knight, J. R., Castaldi, C., Tikhonova, I. R., López-Giráldez, F., Keren, B., Whalen, S., Buratti, J., Doummar, D., Cho, M., Retterer, K., Millan, F., Wang, Y., Waugh, J. L., Rodan, L., Cohen, J. S., Fatemi, A., Lin, A. E., Phillips, J. P., Feyma, T., MacLennan, S. C., Vaughan, S., Crompton, K. E., Reid, S. M., Reddihough, D. S., Shang, Q., Gao, C., Novak, I., Badawi, N., Wilson, Y. A., McIntyre, S. J., Mane, S. M., Wang, X., Amor, D. J., Zarnescu, D. C., Lu, Q., Xing, Q., Zhu, C., Bilguvar, K., Padilla-Lopez, S., Lifton, R. P., Gecz, J., MacLennan, A. H. & Kruer, M. C., Mar 2021, In: Nature genetics. 53, 3, p. 412 1 p.

Research output: Contribution to journal › Comment/debate › peer-review

Open Access

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Richard, E. M., Bakhtiari, S., Marsh, A. P. L., Kaiyrzhanov, R., Wagner, M., Shetty, S., Pagnozzi, A., Nordlie, S. M., Guida, B. S., Cornejo, P., Magee, H., Liu, J., Norton, B. Y., Webster, R. I., Worgan, L., Hakonarson, H., Li, J., Guo, Y., Jain, M., Blesson, A., & 85 othersRodan, L. H., Abbott, M. A., Comi, A., Cohen, J. S., Alhaddad, B., Meitinger, T., Lenz, D., Ziegler, A., Kotzaeridou, U., Brunet, T., Chassevent, A., Smith-Hicks, C., Ekstein, J., Weiden, T., Hahn, A., Zharkinbekova, N., Turnpenny, P., Tucci, A., Yelton, M., Horvath, R., Gungor, S., Hiz, S., Oktay, Y., Lochmuller, H., Zollino, M., Morleo, M., Marangi, G., Nigro, V., Torella, A., Pinelli, M., Amenta, S., Husain, R. A., Grossmann, B., Rapp, M., Steen, C., Marquardt, I., Grimmel, M., Grasshoff, U., Korenke, G. C., Owczarek-Lipska, M., Neidhardt, J., Radio, F. C., Mancini, C., Claps Sepulveda, D. J., McWalter, K., Begtrup, A., Crunk, A., Guillen Sacoto, M. J., Person, R., Schnur, R. E., Mancardi, M. M., Kreuder, F., Striano, P., Zara, F., Chung, W. K., Marks, W. A., van Eyk, C. L., Webber, D. L., Corbett, M. A., Harper, K., Berry, J. G., MacLennan, A. H., Gecz, J., Tartaglia, M., Salpietro, V., Christodoulou, J., Kaslin, J., Padilla-Lopez, S., Bilguvar, K., Munchau, A., Ahmed, Z. M., Hufnagel, R. B., Fahey, M. C., Maroofian, R., Houlden, H., Sticht, H., Mane, S. M., Rad, A., Vona, B., Jin, S. C., Haack, T. B., Makowski, C., Hirsch, Y., Riazuddin, S. & Kruer, M. C., Oct 7 2021, In: American journal of human genetics. 108, 10, p. 2006-2016 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype

Kojic, M., Gawda, T., Gaik, M., Begg, A., Salerno-Kochan, A., Kurniawan, N. D., Jones, A., Drożdżyk, K., Kościelniak, A., Chramiec-Głąbik, A., Hediyeh-Zadeh, S., Kasherman, M., Shim, W. J., Sinniah, E., Genovesi, L. A., Abrahamsen, R. K., Fenger, C. D., Madsen, C. G., Cohen, J. S., Fatemi, A., & 20 othersStark, Z., Lunke, S., Lee, J., Hansen, J. K., Boxill, M. F., Keren, B., Marey, I., Saenz, M. S., Brown, K., Alexander, S. A., Mureev, S., Batzilla, A., Davis, M. J., Piper, M., Bodén, M., Burne, T. H. J., Palpant, N. J., Møller, R. S., Glatt, S. & Wainwright, B. J., Dec 1 2021, In: Nature communications. 12, 1, 2678.

Research output: Contribution to journal › Article › peer-review

Open Access

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome

Sheppard, S. E., Campbell, I. M., Harr, M. H., Gold, N., Li, D., Bjornsson, H. T., Cohen, J. S., Fahrner, J. A., Fatemi, A., Harris, J. R., Nowak, C., Stevens, C. A., Grand, K., Au, M., Graham, J. M., Sanchez-Lara, P. A., Campo, M. D., Jones, M. C., Abdul-Rahman, O., Alkuraya, F. S., & 83 othersBassetti, J. A., Bergstrom, K., Bhoj, E., Dugan, S., Kaplan, J. D., Derar, N., Gripp, K. W., Hauser, N., Innes, A. M., Keena, B., Kodra, N., Miller, R., Nelson, B., Nowaczyk, M. J., Rahbeeni, Z., Ben-Shachar, S., Shieh, J. T., Slavotinek, A., Sobering, A. K., Abbott, M. A., Allain, D. C., Amlie-Wolf, L., Au, P. Y. B., Bedoukian, E., Beek, G., Barry, J., Berg, J., Bernstein, J. A., Cytrynbaum, C., Chung, B. H. Y., Donoghue, S., Dorrani, N., Eaton, A., Flores-Daboub, J. A., Dubbs, H., Felix, C. A., Fong, C. T., Fung, J. L. F., Gangaram, B., Goldstein, A., Greenberg, R., Ha, T. K., Hersh, J., Izumi, K., Kallish, S., Kravets, E., Kwok, P. Y., Jobling, R. K., Knight Johnson, A. E., Kushner, J., Lee, B. H., Levin, B., Lindstrom, K., Manickam, K., Mardach, R., McCormick, E., McLeod, D. R., Mentch, F. D., Minks, K., Muraresku, C., Nelson, S. F., Porazzi, P., Pichurin, P. N., Powell-Hamilton, N. N., Powis, Z., Ritter, A., Rogers, C., Rohena, L., Ronspies, C., Schroeder, A., Stark, Z., Starr, L., Stoler, J., Suwannarat, P., Velinov, M., Weksberg, R., Wilnai, Y., Zadeh, N., Zand, D. J., Falk, M. J., Hakonarson, H., Zackai, E. H. & Quintero-Rivera, F., Jun 2021, In: American Journal of Medical Genetics, Part A. 185, 6, p. 1649-1665 17 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

DDD Study, Nov 2021, In: American Journal of Medical Genetics, Part A. 185, 11, p. 3446-3458 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Expansion of the genotypic and phenotypic spectrum of wasf1-related neurodevelopmental disorder

Srivastava, S., Macke, E. L., Swanson, L. C., Coulter, D., Klee, E. W., Mullegama, S. V., Xie, Y., Lanpher, B. C., Bedoukian, E. C., Skraban, C. M., Villard, L., Milh, M., Leppert, M. L. O. & Cohen, J. S., Jul 2021, In: Brain Sciences. 11, 7, 931.

Research output: Contribution to journal › Article › peer-review

Open Access

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Yabumoto, M., Kianmahd, J., Singh, M., Palafox, M. F., Wei, A., Elliott, K., Goodloe, D. H., Dean, S. J., Gooch, C., Murray, B. K., Swartz, E., Schrier Vergano, S. A., Towne, M. C., Nugent, K., Roeder, E. R., Kresge, C., Pletcher, B. A., Grand, K., Graham, J. M., Gates, R., & 25 othersGomez-Ospina, N., Ramanathan, S., Clark, R. D., Glaser, K., Benke, P. J., Cohen, J. S., Fatemi, A., Mu, W., Baranano, K. W., Madden, J. A., Gubbels, C. S., Yu, T. W., Agrawal, P. B., Chambers, M. K., Phornphutkul, C., Pugh, J. A., Tauber, K. A., Azova, S., Smith, J. R., O’Donnell-Luria, A., Medsker, H., Srivastava, S., Krakow, D., Schweitzer, D. N. & Arboleda, V. A., Oct 2021, In: Molecular Genetics and Genomic Medicine. 9, 10, e1809.

Research output: Contribution to journal › Article › peer-review

Open Access

PIGG variant pathogenicity assessment reveals characteristic features within 19 families

Tremblay-Laganière, C., Maroofian, R., Nguyen, T. T. M., Karimiani, E. G., Kirmani, S., Akbar, F., Ibrahim, S., Afroze, B., Doosti, M., Ashrafzadeh, F., Babaei, M., Efthymiou, S., Christoforou, M., Sultan, T., Ladda, R. L., McLaughlin, H. M., Truty, R., Mahida, S., Cohen, J. S., Baranano, K., & 31 othersIsmail, F. Y., Patel, M. S., Lehman, A., Edmondson, A. C., Nagy, A., Walker, M. A., Mercimek-Andrews, S., Maki, Y., Sachdev, R., Macintosh, R., Palmer, E. E., Mancini, G. M. S., Barakat, T. S., Steinfeld, R., Rüsch, C. T., Stettner, G. M., Wagner, M., Wortmann, S. B., Kini, U., Brady, A. F., Stals, K. L., Ismayilova, N., Ellard, S., Bernardo, D., Nugent, K., McLean, S. D., Antonarakis, S. E., Houlden, H., Kinoshita, T., Campeau, P. M. & Murakami, Y., Oct 2021, In: Genetics in Medicine. 23, 10, p. 1873-1881 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

PURA-Related Developmental and Epileptic Encephalopathy Phenotypic and Genotypic Spectrum

Johannesen, K. M., Gardella, E., Gjerulfsen, C. E., Bayat, A., Rouhl, R. P. W., Reijnders, M., Whalen, S., Keren, B., Buratti, J., Courtin, T., Wierenga, K. J., Isidor, B., Piton, A., Faivre, L., Garde, A., Moutton, S., Tran-Mau-Them, F., Denommé-Pichon, A. S., Coubes, C., Larson, A., & 85 othersEsser, M. J., Appendino, J. P., Al-Hertani, W., Gamboni, B., Mampel, A., Mayorga, L., Orsini, A., Bonuccelli, A., Suppiej, A., Van-Gils, J., Vogt, J., Damioli, S., Giordano, L., Moortgat, S., Wirrell, E., Hicks, S., Kini, U., Noble, N., Stewart, H., Asakar, S., Cohen, J. S., Naidu, S. B. R., Collier, A., Brilstra, E. H., Li, M. H., Brew, C., Bigoni, S., Ognibene, D., Ballardini, E., Ruivenkamp, C., Faggioli, R., Afenjar, A., Rodriguez, D., Bick, D., Segal, D., Coman, D., Gunning, B., Devinsky, O., Demmer, L. A., Grebe, T., Pruna, D., Cursio, I., Greenhalgh, L., Graziano, C., Singh, R. R., Cantalupo, G., Willems, M., Yoganathan, S., Góes, F., Leventer, R. J., Colavito, D., Olivotto, S., Scelsa, B., Andrade, A. V., Ratke, K., Tokarz, F., Khan, A. S., Ormieres, C., Benko, W., Keough, K., Keros, S., Hussain, S., Franques, A., Varsalone, F., Grønborg, S., Mignot, C., Heron, D., Nava, C., Isapof, A., Borlot, F., Whitney, R., Ronan, A., Foulds, N., Somorai, M., Brandsema, J., Helbig, K. L., Helbig, I., Ortiz-González, X. R., Dubbs, H., Vitobello, A., Anderson, M., Spadafore, D., Hunt, D., Møller, R. S. & Rubboli, G., Dec 15 2021, In: Neurology: Genetics. 7, 6, e613.

Research output: Contribution to journal › Article › peer-review

Open Access

Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

May, H. J., Jeong, J., Revah-Politi, A., Cohen, J. S., Chassevent, A., Baptista, J., Baugh, E. H., Bier, L., Bottani, A., Maria, M. T., Conlon, C., Fluss, J., Guipponi, M., Kim, C. A., Matsumoto, N., Person, R., Primiano, M., Rankin, J., Shinawi, M., Smith-Hicks, C., & 7 othersTelegrafi, A., Toy, S., Uchiyama, Y., Aggarwal, V., Goldstein, D. B., Roche, K. W. & Anyane-Yeboa, K., Oct 2021, In: Genetics in Medicine. 23, 10, p. 1912-1921 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2020

Adult patients with undiagnosed conditions and their responses to unresolved uncertainty from exome sequencing

Neustadt, A., Owczarzak, J., Mu, W., Cohen, J. S. & Erby, L., Dec 2020, In: Journal of Genetic Counseling. 29, 6, p. 992-1003 12 p.

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

Undiagnosed Diseases Network, Aug 6 2020, In: American journal of human genetics. 107, 2, p. 352-363 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

7 Scopus citations

Expansion of the genetic landscape of ERLIN2-related disorders

Srivastava, S., D’Amore, A., Cohen, J. S., Swanson, L. C., Ricca, I., Pini, A., Fatemi, A., Ebrahimi-Fakhari, D. & Santorelli, F. M., Apr 1 2020, In: Annals of Clinical and Translational Neurology. 7, 4, p. 573-578 6 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Genetic counseling in neurodevelopmental disorders

Blesson, A. & Cohen, J. S., Apr 2020, In: Cold Spring Harbor Perspectives in Medicine. 10, 4, a036533.

Research output: Contribution to journal › Article › peer-review

Open Access

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Jin, S. C., Lewis, S. A., Bakhtiari, S., Zeng, X., Sierant, M. C., Shetty, S., Nordlie, S. M., Elie, A., Corbett, M. A., Norton, B. Y., van Eyk, C. L., Haider, S., Guida, B. S., Magee, H., Liu, J., Pastore, S., Vincent, J. B., Brunstrom-Hernandez, J., Papavasileiou, A., Fahey, M. C., & 56 othersBerry, J. G., Harper, K., Zhou, C., Zhang, J., Li, B., Heim, J., Webber, D. L., Frank, M. S. B., Xia, L., Xu, Y., Zhu, D., Zhang, B., Sheth, A. H., Knight, J. R., Castaldi, C., Tikhonova, I. R., López-Giráldez, F., Keren, B., Whalen, S., Buratti, J., Doummar, D., Cho, M., Retterer, K., Millan, F., Wang, Y., Waugh, J. L., Rodan, L., Cohen, J. S., Fatemi, A., Lin, A. E., Phillips, J. P., Feyma, T., MacLennan, S. C., Vaughan, S., Crompton, K. E., Reid, S. M., Reddihough, D. S., Shang, Q., Gao, C., Novak, I., Badawi, N., Wilson, Y. A., McIntyre, S. J., Mane, S. M., Wang, X., Amor, D. J., Zarnescu, D. C., Lu, Q., Xing, Q., Zhu, C., Bilguvar, K., Padilla-Lopez, S., Lifton, R. P., Gecz, J., MacLennan, A. H. & Kruer, M. C., Oct 1 2020, In: Nature genetics. 52, 10, p. 1046-1056 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5

Kodani, A., Kenny, C., Lai, A., Gonzalez, D. M., Stronge, E., Sejourne, G. M., Isacco, L., Partlow, J. N., O'Donnell, A., McWalter, K., Byrne, A. B., Barkovich, A. J., Yang, E., Hill, R. S., Gawlinski, P., Wiszniewski, W., Cohen, J. S., Fatemi, S. A., Baranano, K. W., Sahin, M., & 3 othersVossler, D. G., Yuskaitis, C. J. & Walsh, C. A., Apr 22 2020, In: Neuron. 106, 2, p. 246-255.e6

Research output: Contribution to journal › Article › peer-review

Open Access

4 Scopus citations

RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability

Scala, M., Mojarrad, M., Riazuddin, S., Brigatti, K. W., Ammous, Z., Cohen, J. S., Hosny, H., Usmani, M. A., Shahzad, M., Riazuddin, S., Stanley, V., Eslahi, A., Person, R. E., Elbendary, H. M., Comi, A. M., Poskitt, L., Salpietro, V., Genomics, Q. S., Rosenfeld, J. A., Williams, K. B., & 8 othersMarafi, D., Xia, F., Waberski, M. B., Zaki, M. S., Gleeson, J., Puffenberger, E., Houlden, H. & Maroofian, R., Mar 1 2020, In: Brain. 143, 3

Research output: Contribution to journal › Letter › peer-review

Open Access

1 Scopus citations

The variability of SMARCA4-related Coffin–Siris syndrome: Do nonsense candidate variants add to milder phenotypes?

Li, D., Ahrens-Nicklas, R. C., Baker, J., Bhambhani, V., Calhoun, A., Cohen, J. S., Deardorff, M. A., Fernández-Jaén, A., Kamien, B., Jain, M., Mckenzie, F., Mintz, M., Motter, C., Niles, K., Ritter, A., Rogers, C., Roifman, M., Townshend, S., Ward-Melver, C. & Schrier Vergano, S. A., Sep 1 2020, In: American Journal of Medical Genetics, Part A. 182, 9, p. 2058-2067 10 p.

Research output: Contribution to journal › Article › peer-review

2019

Challenges to informed consent for exome sequencing: A best–worst scaling experiment

Gore, R. H., Bridges, J., Cohen, J. S. & Biesecker, B. B., Dec 1 2019, In: Journal of Genetic Counseling. 28, 6, p. 1189-1197 9 p.

Research output: Contribution to journal › Article › peer-review

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

Undiagnosed Diseases Network, Aug 1 2019, In: American journal of human genetics. 105, 2, p. 413-424 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Erratum: De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia (The American Journal of Human Genetics (2019) 105(2) (413–424), (S0002929719302393), (10.1016/j.ajhg.2019.06.014))

Undiagnosed Diseases Network, Sep 5 2019, In: American journal of human genetics. 105, 3, p. 672-674 3 p.

Research output: Contribution to journal › Comment/debate › peer-review

Open Access

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Pant, D. C., Dorboz, I., Schluter, A., Fourcade, S., Launay, N., Joya, J., Aguilera-Albesa, S., Yoldi, M. E., Casasnovas, C., Willis, M. J., Ruiz, M., Ville, D., Lesca, G., Siquier-Pernet, K., Desguerre, I., Yan, H., Wang, J., Burmeister, M., Brady, L., Tarnopolsky, M., & 24 othersCornet, C., Rubbini, D., Terriente, J., James, K. N., Musaev, D., Zaki, M. S., Patterson, M. C., Lanpher, B. C., Klee, E. W., E Vairo, F. P., Wohler, E., Sobreira, N. L. D. M., Cohen, J. S., Maroofian, R., Galehdari, H., Mazaheri, N., Shariati, G., Colleaux, L., Rodriguez, D., Gleeson, J. G., Pujades, C., Fatemi, A., Boespflug-Tanguy, O. & Pujol, A., Mar 2019, In: Journal of Clinical Investigation. 129, 3, p. 1240-1256 17 p.

Research output: Contribution to journal › Article › peer-review

Open Access

20 Scopus citations

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

CAUSES Study & Deciphering Developmental Disorders Study, Mar 7 2019, In: American journal of human genetics. 104, 3, p. 530-541 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

Ng, B. G., Sosicka, P., Agadi, S., Almannai, M., Bacino, C. A., Barone, R., Botto, L. D., Burton, J. E., Carlston, C., Chung, B. H. Y., Cohen, J. S., Coman, D., Dipple, K. M., Dorrani, N., Dobyns, W. B., Elias, A. F., Epstein, L., Gahl, W. A., Garozzo, D., Hammer, T. B., & 49 othersHaven, J., Héron, D., Herzog, M., Hoganson, G. E., Hunter, J. M., Jain, M., Juusola, J., Lakhani, S., Lee, H., Lee, J., Lewis, K., Longo, N., Lourenço, C. M., Mak, C. C. Y., McKnight, D., Mendelsohn, B. A., Mignot, C., Mirzaa, G., Mitchell, W., Muhle, H., Nelson, S. F., Olczak, M., Palmer, C. G. S., Partikian, A., Patterson, M. C., Pierson, T. M., Quinonez, S. C., Regan, B. M., Ross, M. E., Guillen Sacoto, M. J., Scaglia, F., Scheffer, I. E., Segal, D., Singhal, N. S., Striano, P., Sturiale, L., Symonds, J. D., Tang, S., Vilain, E., Willis, M., Wolfe, L. A., Yang, H., Yano, S., Powis, Z., Suchy, S. F., Rosenfeld, J. A., Edmondson, A. C., Grunewald, S. & Freeze, H. H., Jul 2019, In: Human mutation. 40, 7, p. 908-925 18 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Vigabatrin as a Targeted Treatment of GABA_B Receptor-Related Epileptic Encephalopathy

Chin, E. M., Cohen, J. S. & Harris, J., Oct 2019, In: Pediatric Neurology. 99, p. 82-84 3 p.

Research output: Contribution to journal › Article › peer-review

2018

Clinical and functional characterization of the recurrent TUBA1A p.(ARG2HIS) mutation

Gardner, J. F., Cushion, T. D., Niotakis, G., Olson, H. E., Grant, P. E., Scott, R. H., Stoodley, N., Cohen, J. S., Naidu, S., Attie-Bitach, T., Bonnières, M., Boutaud, L., Encha-Razavi, F., Palmer-Smith, S. M., Mugalaasi, H., Mullins, J. G. L., Pilz, D. T. & Fry, A. E., Aug 7 2018, In: Brain Sciences. 8, 8, 145.

Research output: Contribution to journal › Article › peer-review

Open Access

6 Scopus citations

Clinical whole-exome sequencing results impact medical management

Niguidula, N., Alamillo, C., Shahmirzadi Mowlavi, L., Powis, Z., Cohen, J. S. & Farwell Hagman, K. D., Nov 2018, In: Molecular Genetics and Genomic Medicine. 6, 6, p. 1068-1078 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy

Wojcik, M. H., Okada, K., Prabhu, S. P., Nowakowski, D. W., Ramsey, K., Balak, C., Rangasamy, S., Brownstein, C. A., Schmitz-Abe, K., Cohen, J. S., Fatemi, A., Shi, J., Grant, E. P., Narayanan, V., Ho, H. Y. H. & Agrawal, P. B., Dec 2018, In: American Journal of Medical Genetics, Part A. 176, 12, p. 2623-2629 7 p.

Research output: Contribution to journal › Article › peer-review

De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms

Powis, Z., Petrik, I., Cohen, J. S., Escolar, D., Burton, J., van Ravenswaaij-Arts, C. M. A., Sival, D. A., Stegmann, A. P. A., Kleefstra, T., Pfundt, R., Chikarmane, R., Begtrup, A., Huether, R., Tang, S. & Shinde, D. N., May 2018, In: Clinical Genetics. 93, 5, p. 1030-1038 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

5 Scopus citations

Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance

Powis, Z., Farwell Hagman, K. D., Mroske, C., McWalter, K., Cohen, J. S., Colombo, R., Serretti, A., Fatemi, A., David, K. L., Reynolds, J., Immken, L., Nagakura, H., Cunniff, C. M., Payne, K., Barbaro-Dieber, T., Gripp, K. W., Baker, L., Stamper, T., Aleck, K. A., Jordan, E. S., & 9 othersHersh, J. H., Burton, J., Wentzensen, I. M., Guillen Sacoto, M. J., Willaert, R., Cho, M. T., Petrik, I., Huether, R. & Tang, S., Apr 2018, In: Clinical Genetics. 93, 4, p. 752-761 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

FOXG1 syndrome: Genotype-phenotype association in 83 patients with FOXG1 variants

Mitter, D., Pringsheim, M., Kaulisch, M., Plümacher, K. S., Schröder, S., Warthemann, R., Abou Jamra, R., Baethmann, M., Bast, T., Büttel, H. M., Cohen, J. S., Conover, E., Courage, C., Eger, A., Fatemi, A., Grebe, T. A., Hauser, N. S., Heinritz, W., Helbig, K. L., Heruth, M., & 21 othersHuhle, D., Höft, K., Karch, S., Kluger, G., Korenke, G. C., Lemke, J. R., Lutz, R. E., Patzer, S., Prehl, I., Hoertnagel, K., Ramsey, K., Rating, T., Rieß, A., Rohena, L., Schimmel, M., Westman, R., Zech, F. M., Zoll, B., Malzahn, D., Zirn, B. & Brockmann, K., Jan 1 2018, In: Genetics in Medicine. 20, 1, p. 98-108 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants

Vernon, H., Cohen, J., De Nittis, P., Fatemi, A., McClellan, R., Goldstein, A., Malerba, N., Guex, N., Reymond, A. & Merla, G., Jun 2018, In: Clinical Genetics. 93, 6, p. 1254-1256 3 p.

Research output: Contribution to journal › Letter › peer-review

9 Scopus citations

Mitochondrial DNA deletions with low-level heteroplasmy in adult-onset myopathy

Leung, D. G., Cohen, J. S., Michelle, E., Bai, R., Mammen, A. L. & Christopher-Stine, L., 2018, In: Journal of Clinical Neuromuscular Disease. 19, 3, p. 117-123 7 p.

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

Monogenic disorders that mimic the phenotype of Rett syndrome

Srivastava, S., Desai, S., Cohen, J., Smith-Hicks, C., Barañano, K., Fatemi, A. & Naidu, S. B., Jan 1 2018, In: Neurogenetics. 19, 1, p. 41-47 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

23 Scopus citations

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome

Zarate, Y. A., Smith-Hicks, C. L., Greene, C., Abbott, M. A., Siu, V. M., Calhoun, A. R. U. L., Pandya, A., Li, C., Sellars, E. A., Kaylor, J., Bosanko, K., Kalsner, L., Basinger, A., Slavotinek, A. M., Perry, H., Saenz, M., Szybowska, M., Wilson, L. C., Kumar, A., Brain, C., & 38 othersBalasubramanian, M., Dubbs, H., Ortiz-Gonzalez, X. R., Zackai, E., Stein, Q., Powell, C. M., Schrier Vergano, S., Britt, A., Sun, A., Smith, W., Bebin, E. M., Picker, J., Kirby, A., Pinz, H., Bombei, H., Mahida, S., Cohen, J. S., Fatemi, A., Vernon, H. J., McClellan, R., Fleming, L. R., Knyszek, B., Steinraths, M., Velasco Gonzalez, C., Beck, A. E., Golden-Grant, K. L., Egense, A., Parikh, A., Raimondi, C., Angle, B., Allen, W., Schott, S., Algrabli, A., Robin, N. H., Ray, J. W., Everman, D. B., Gambello, M. J. & Chung, W. K., Apr 2018, In: American Journal of Medical Genetics, Part A. 176, 4, p. 925-935 11 p.

Research output: Contribution to journal › Article › peer-review

29 Scopus citations

ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis

Gordon-Lipkin, E., Cohen, J. S., Srivastava, S., Soares, B., Levey, E. & Fatemi, A., Nov 1 2018, In: Journal of child neurology. 33, 13, p. 825-831 7 p.

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

2017

Compound Heterozygous Variants in ROBO1 Cause a Neurodevelopmental Disorder With Absence of Transverse Pontine Fibers and Thinning of the Anterior Commissure and Corpus Callosum

Calloni, S. F., Cohen, J. S., Meoded, A., Juusola, J., Triulzi, F. M., Huisman, T. A. G. M., Poretti, A. & Fatemi, A., May 2017, In: Pediatric Neurology. 70, p. 70-74 5 p.

Research output: Contribution to journal › Article › peer-review

9 Scopus citations

Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy

Theisen, B. E., Rumyantseva, A., Cohen, J. S., Alcaraz, W. A., Shinde, D. N., Tang, S., Srivastava, S., Pevsner, J. A., Trifunovic, A. & Fatemi, A., Sep 2017, In: American Journal of Medical Genetics, Part A. 173, 9, p. 2505-2510 6 p.

Research output: Contribution to journal › Article › peer-review

20 Scopus citations

De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities

Martin, S., Chamberlin, A., Shinde, D. N., Hempel, M., Strom, T. M., Schreiber, A., Johannsen, J., Ousager, L. B., Larsen, M. J., Hansen, L. K., Fatemi, A., Cohen, J. S., Lemke, J., Sørensen, K. P., Helbig, K. L., Lessel, D. & Abou Jamra, R., Dec 7 2017, In: American journal of human genetics. 101, 6, p. 1013-1020 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

DNM1 encephalopathy

Von Spiczak, S., Helbig, K. L., Shinde, D. N., Huether, R., Pendziwiat, M., Lourenço, C., Nunes, M. E., Sarco, D. P., Kaplan, R. A., Dlugos, D. J., Kirsch, H., Slavotinek, A., Cilio, M. R., Cervenka, M. C., Cohen, J. S., McClellan, R., Fatemi, A., Yuen, A., Sagawa, Y., Littlejohn, R., & 17 othersMcLean, S. D., Hernandez-Hernandez, L., Maher, B., Møller, R. S., Palmer, E., Lawson, J. A., Campbell, C. A., Joshi, C. N., Kolbe, D. L., Hollingsworth, G., Neubauer, B. A., Muhle, H., Stephani, U., Scheffer, I. E., Pena, S. D. J., Sisodiya, S. M. & Helbig, I., Jul 25 2017, In: Neurology. 89, 4, p. 385-394 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

37 Scopus citations

Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features

Cohen, J. S., Srivastava, S., Farwell Hagman, K. D., Shinde, D. N., Huether, R., Darcy, D., Wallerstein, R., Houge, G., Berland, S., Monaghan, K. G., Poretti, A., Wilson, A. L., Chung, W. K. & Fatemi, A., May 1 2017, In: Clinical Genetics. 91, 5, p. 697-707 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

11 Scopus citations

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

Acuna-Hidalgo, R., Deriziotis, P., Steehouwer, M., Gilissen, C., Graham, S. A., van Dam, S., Hoover-Fong, J., Telegrafi, A. B., Destree, A., Smigiel, R., Lambie, L. A., Kayserili, H., Altunoglu, U., Lapi, E., Uzielli, M. L., Aracena, M., Nur, B. G., Mihci, E., Moreira, L. M. A., Borges Ferreira, V., & 26 othersHorovitz, D. D. G., da Rocha, K. M., Jezela-Stanek, A., Brooks, A. S., Reutter, H., Cohen, J. S., Fatemi, A., Smitka, M., Grebe, T. A., Di Donato, N., Deshpande, C., Vandersteen, A., Marques Lourenço, C., Dufke, A., Rossier, E., Andre, G., Baumer, A., Spencer, C., McGaughran, J., Franke, L., Veltman, J. A., De Vries, B. B. A., Schinzel, A., Fisher, S. E., Hoischen, A. & van Bon, B. W., Mar 2017, In: PLoS genetics. 13, 3, e1006683.

Research output: Contribution to journal › Article › peer-review

Open Access

13 Scopus citations

2016

A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene

Rodan, L. H., Cohen, J., Fatemi, A., Gillis, T., Lucente, D., Gusella, J. & Picker, J. D., Dec 1 2016, In: European Journal of Human Genetics. 24, 12, p. 1826-1827 2 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Julie Cohen

Research output

Search results