Jimann Shin

Notch signaling regulates neural precursor allocation and binary neuronal fate decisions in zebrafish

Shin, J., Poling, J., Park, H. C. & Appel, B., May 2007, In: Development. 134, 10, p. 1911-1920 10 p.

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

Oligodendrocyte progenitor cell numbers and migration are regulated by the zebrafish orthologs of the NF1 tumor suppressor gene

Lee, J. S., Padmanabhan, A., Shin, J., Zhu, S., Guo, F., Kanki, J. P., Epstein, J. A. & Thomas Look, A., Dec 1 2010, In: Human molecular genetics. 19, 23, p. 4643-4653 11 p.

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

Open Access

37 Scopus citations

Oligodendrocyte specification in zebrafish requires notch-regulated cyclin-dependent kinase inhibitor function

Park, H. C., Boyce, J., Shin, J. & Appel, B., Jul 20 2005, In: Journal of Neuroscience. 25, 29, p. 6836-6844 9 p.

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

Open Access

90 Scopus citations

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Undiagnosed Diseases Network, Jan 15 2020, In: Biological Psychiatry. 87, 2, p. 100-112 13 p.

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

Open Access

37 Scopus citations

Participation in a national diagnostic research study: assessing the patient experience

The Undiagnosed Diseases Network, Baldridge, D., Cole, F. S., Pak, S., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Dec 2023, In: Orphanet Journal of Rare Diseases. 18, 1, 73.

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

Open Access

2 Scopus citations

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Undiagnosed Diseases Network, Oct 2021, In: Genetics in Medicine. 23, 10, p. 1922-1932 11 p.

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

Open Access

14 Scopus citations

PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy

Undiagnosed Diseases Network & The DDD study, Aug 2021, In: Clinical Genetics. 100, 2, p. 227-233 7 p.

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

6 Scopus citations

Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum

Undiagnosed Diseases Network, Jun 2021, In: Molecular Genetics and Genomic Medicine. 9, 6, e1692.

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

Open Access

1 Scopus citations

PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature

Undiagnosed Diseases Network, Jun 2022, In: American Journal of Medical Genetics, Part A. 188, 6, p. 1868-1874 7 p.

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

1 Scopus citations

Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network

Undiagnosed Diseases Network, Dec 2021, In: Orphanet Journal of Rare Diseases. 16, 1, 210.

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

Open Access

4 Scopus citations

Six3 Represses Nodal Activity to Establish Early Brain Asymmetry in Zebrafish

Inbal, A., Kim, S. H., Shin, J. & Solnica-Krezel, L., Aug 2 2007, In: Neuron. 55, 3, p. 407-415 9 p.

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

Open Access

50 Scopus citations

Spatial and temporal regulation of ventral spinal cord precursor specification by Hedgehog signaling

Park, H. C., Shin, J. & Appel, B., Dec 2004, In: Development. 131, 23, p. 5959-5969 11 p.

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

Open Access

141 Scopus citations

Spatio-temporal regulation of concurrent developmental processes by generic signaling downstream of chemokine receptors

Malhotra, D., Shin, J., Solnica-Krezel, L. & Raz, E., Jun 6 2018, In: eLife. 7, e33574.

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

Open Access

9 Scopus citations

Specification of an anterior neuroectoderm patterning by Frizzled8a-mediated Wnt8b signalling during late gastrulation in zebrafish

Kim, S. H., Shin, J., Park, H. C., Yeo, S. Y., Hong, S. K., Han, S., Rhee, M., Kim, C. H., Chitnis, A. B. & Huh, T. L., Oct 2002, In: Development. 129, 19, p. 4443-4455 13 p.

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

82 Scopus citations

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

Srivastava, S., Shaked, H. M., Gable, K., Gupta, S. D., Pan, X., Somashekarappa, N., Han, G., Mohassel, P., Gotkine, M., Doney, E., Goldenberg, P., Tan, Q. K. G., Gong, Y., Kleinstiver, B., Wishart, B., Cope, H., Pires, C. B., Stutzman, H., Spillmann, R. C., Alejandro, M. E., & 293 othersAzamian, M. S., Bacino, C. A., Balasubramanyam, A., Burrage, L. C., Chao, H. T., Clark, G. D., Craigen, W. J., Dai, H., Dhar, S. U., Emrick, L. T., Goldman, A. M., Hanchard, N. A., Jamal, F., Karaviti, L., Lalani, S. R., Lee, B. H., Lewis, R. A., Marom, R., Moretti, P. M., Murdock, D. R., Nicholas, S. K., Orengo, J. P., Posey, J. E., Potocki, L., Rosenfeld, J. A., Samson, S. L., Scott, D. A., Tran, A. A., Vogel, T. P., Wangler, M. F., Yamamoto, S., Eng, C. M., Liu, P., Ward, P. A., Behrens, E., Deardorff, M., Falk, M., Hassey, K., Sullivan, K., Vanderver, A., Goldstein, D. B., Cope, H., Mcconkie-Rosell, A., Schoch, K., Shashi, V., Smith, E. C., Spillmann, R. C., Sullivan, J. A., Tan, Q. K. G., Walley, N. M., Agrawal, P. B., Beggs, A. H., Berry, G. T., Briere, L. C., Cobban, L. A., Coggins, M., Cooper, C. M., Fieg, E. L., High, F., Holm, I. A., Korrick, S., Krier, J. B., Lincoln, S. A., Loscalzo, J., Maas, R. L., Macrae, C. A., Pallais, J. C., Rao, D. A., Rodan, L. H., Silverman, E. K., Stoler, J. M., Sweetser, D. A., Walker, M., Walsh, C. A., Esteves, C., Kelley, E. G., Kohane, I. S., Leblanc, K., Mccray, A. T., Nagy, A., Dasari, S., Lanpher, B. C., Lanza, I. R., Morava, E., Oglesbee, D., Bademci, G., Barbouth, D., Bivona, S., Carrasquillo, O., Chang, T. C. P., Forghani, I., Grajewski, A., Isasi, R., Lam, B., Levitt, R., Liu, X. Z., Mccauley, J., Sacco, R., Saporta, M., Schaechter, J., Tekin, M., Telischi, F., Thorson, W., Zuchner, S., Colley, H. A., Dayal, J. G., Eckstein, D. J., Findley, L. C., Krasnewich, D. M., Mamounas, L. A., Manolio, T. A., Mulvihill, J. J., Lamoure, G. L., Goldrich, M. P., Urv, T. K., Doss, A. L., Acosta, M. T., Bonnenmann, C., D'souza, P., Draper, D. D., Ferreira, C., Godfrey, R. A., Groden, C. A., Macnamara, E. F., Maduro, V. V., Markello, T. C., Nath, A., Novacic, D., Pusey, B. N., Toro, C., Wahl, C. E., Baker, E., Burke, E. A., Adams, D. R., Gahl, W. A., Malicdan, M. C. V., Tifft, C. J., Wolfe, L. A., Yang, J., Power, B., Gochuico, B., Huryn, L., Latham, L., Davis, J., Mosbrook-Davis, D., Rossignol, F., Solomon, B., Macdowall, J., Thurm, A., Zein, W., Yousef, M., Adam, M., Amendola, L., Bamshad, M., Beck, A., Bennett, J., Berg-Rood, B., Blue, E., Boyd, B., Byers, P., Chanprasert, S., Cunningham, M., Dipple, K., Doherty, D., Earl, D., Glass, I., Golden-Grant, K., Hahn, S., Hing, A., Hisama, F. M., Horike-Pyne, M., Jarvik, G. P., Jarvik, J., Jayadev, S., Lam, C., Maravilla, K., Mefford, H., Merritt, J. L., Mirzaa, G., Nickerson, D., Raskind, W., Rosenwasser, N., Scott, C. R., Sun, A., Sybert, V., Wallace, S., Wener, M., Wenger, T., Ashley, E. A., Bejerano, G., Bernstein, J. A., Bonner, D., Coakley, T. R., Fernandez, L., Fisher, P. G., Fresard, L., Hom, J., Huang, Y., Kohler, J. N., Kravets, E., Majcherska, M. M., Martin, B. A., Marwaha, S., Mccormack, C. E., Raja, A. N., Reuter, C. M., Ruzhnikov, M., Sampson, J. B., Smith, K. S., Sutton, S., Tabor, H. K., Tucker, B. M., Wheeler, M. T., Zastrow, D. B., Zhao, C., Byrd, W. E., Crouse, A. B., Might, M., Nakano-Okuno, M., Whitlock, J., Brown, G., Butte, M. J., Dell'angelica, E. C., Dorrani, N., Douine, E. D., Fogel, B. L., Gutierrez, I., Huang, A., Krakow, D., Lee, H., Loo, S. K., Mak, B. C., Martin, M. G., Martínez-Agosto, J. A., Mcgee, E., Nelson, S. F., Nieves-Rodriguez, S., Palmer, C. G. S., Papp, J. C., Parker, N. H., Renteria, G., Signer, R. H., Sinsheimer, J. S., Wan, J., Wang, L. K., Perry, K. W., Woods, J. D., Alvey, J., Andrews, A., Bale, J., Bohnsack, J., Botto, L., Carey, J., Pace, L., Longo, N., Marth, G., Moretti, P., Quinlan, A., Velinder, M., Viskochi, D., Bayrak-Toydemir, P., Mao, R., Westerfield, M., Bican, A., Brokamp, E., Duncan, L., Hamid, R., Kennedy, J., Kozuira, M., Newman, J. H., Phillipsiii, J. A., Rives, L., Robertson, A. K., Solem, E., Cogan, J. D., Cole, F. S., Hayes, N., Kiley, D., Sisco, K., Wambach, J., Wegner, D., Baldridge, D., Pak, S., Schedl, T., Shin, J., Solnica-Krezel, L., Sadjadi, R., Elpeleg, O., Lee, C. H., Bellen, H. J., Edvardson, S., Eichler, F. & Dunn, T. M., Apr 1 2023, In: Brain. 146, 4, p. 1420-1435 16 p.

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

Open Access

4 Scopus citations

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

7 Scopus citations

The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder

Undiagnosed Diseases Network, 2022, In: Human molecular genetics. 31, 7, p. 2934-2950 17 p.

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

5 Scopus citations

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

Undiagnosed Diseases Network, Aug 2021, In: American Journal of Medical Genetics, Part A. 185, 8, p. 2417-2433 17 p.

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

Open Access

7 Scopus citations

Variable clinical severity in TANGO2 deficiency: Case series and literature review

Undiagnosed Diseases Network, Feb 2022, In: American Journal of Medical Genetics, Part A. 188, 2, p. 473-487 15 p.

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

16 Scopus citations

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Undiagnosed Diseases Network, Aug 2021, In: Genetics in Medicine. 23, 8, p. 1465-1473 9 p.

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

Open Access

7 Scopus citations

VarSight: Prioritizing clinically reported variants with binary classification algorithms

Holt, J. M., Wilk, B., Birch, C. L., Brown, D. M., Gajapathy, M., Moss, A. C., Sosonkina, N., Wilk, M. A., Anderson, J. A., Harris, J. M., Kelly, J. M., Shaterferdosian, F., Uno-Antonison, A. E., Weborg, A., Acosta, M. T., Adam, M., Adams, D. R., Agrawal, P. B., Alejandro, M. E., Allard, P., & 259 othersAlvey, J., Amendola, L., Andrews, A., Ashley, E. A., Azamian, M. S., Bacino, C. A., Bademci, G., Baker, E., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Batzli, G. F., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Bejerano, G., Bellen, H. J., Bennet, J., Berg-Rood, B., Bernier, R., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonnenmann, C., Bonner, D., Botto, L., Briere, L. C., Brokamp, E., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Carey, J., Carrasquillo, O., Chang, T. C. P., Chanprasert, S., Chao, H. T., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Cole, F. S., Colley, H. A., Cooper, C. M., Cope, H., Craigen, W. J., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davids, M., Dayal, J. G., Dell'Angelica, E. C., Dhar, S. U., Dipple, K., Doherty, D., Dorrani, N., Douine, E. D., Draper, D. D., Duncan, L., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Esteves, C., Estwick, T., Fernandez, L., Ferreira, C., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Fresard, L., Gahl, W. A., Glass, I., Godfrey, R. A., Golden-Grant, K., Goldman, A. M., Goldstein, D. B., Grajewski, A., Groden, C. A., Gropman, A. L., Hahn, S., Hamid, R., Hanchard, N. A., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Huang, Y., Isasi, R., Jamal, F., Jarvik, G. P., Jarvik, J., Jayadev, S., Jiang, Y. H., Johnston, J. M., Karaviti, L., Kelley, E. G., Kiley, D., Kohane, I. S., Kohler, J. N., Krakow, D., Krasnewich, D. M., Korrick, S., Koziura, M., Krier, J. B., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., Lau, C. C., Leblanc, K., Lee, B. H., Lee, H., Levitt, R., Lewis, R. A., Lincoln, S. A., Liu, P., Liu, X. Z., Longo, N., Loo, S. K., Loscalzo, J., Maas, R. L., Macnamara, E. F., MacRae, C. A., Maduro, V. V., Majcherska, M. M., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Maravilla, K., Markello, T. C., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCormack, C. E., McCray, A. T., Mefford, H., Merritt, J. L., Might, M., Mirzaa, G., Morava-Kozicz, E., Moretti, P. M., Morimoto, M., Mulvihill, J. J., Murdock, D. R., Nath, A., Nelson, S. F., Newman, J. H., Nicholas, S. K., Nickerson, D., Novacic, D., Oglesbee, D., Orengo, J. P., Pace, L., Pak, S., Pallais, J. C., Palmer, C. G. S., Papp, J. C., Parker, N. H., Phillips, J. A., Posey, J. E., Postlethwait, J. H., Potocki, L., Pusey, B. N., Quinlan, A., Raskind, W., Raja, A. N., Renteria, G., Reuter, C. M., Rives, L., Robertson, A. K., Rodan, L. H., Rosenfeld, J. A., Rowley, R. K., Ruzhnikov, M., Sacco, R., Sampson, J. B., Samson, S. L., Saporta, M., Scott, C. R., Schaechter, J., Schedl, T., Schoch, K., Scott, D. A., Shakachite, L., Sharma, P., Shashi, V., Shin, J., Signer, R., Sillari, C. H., Silverman, E. K., Sinsheimer, J. S., Sisco, K., Smith, K. S., Solnica-Krezel, L., Spillmann, R. C., Stoler, J. M., Stong, N., Sullivan, J. A., Sun, A., Sutton, S., Sweetser, D. A., Sybert, V., Tabor, H. K., Tamburro, C. P., Tan, Q. K. G., Tekin, M., Telischi, F., Thorson, W., Tifft, C. J., Toro, C., Tran, A. A., Urv, T. K., Velinder, M., Viskochil, D., Vogel, T. P., Wahl, C. E., Wallace, S., Walley, N. M., Walsh, C. A., Walker, M., Wambach, J., Wan, J., Wang, L. K., Wangler, M. F., Ward, P. A., Wegner, D., Wener, M., Westerfield, M., Wheeler, M. T., Wise, A. L., Wolfe, L. A., Woods, J. D., Yamamoto, S., Yang, J., Yoon, A. J., Yu, G., Zastrow, D. B., Zhao, C., Zuchner, S. & Worthey, E. A., Oct 15 2019, In: BMC bioinformatics. 20, 1, 496.

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

Open Access

11 Scopus citations

Zebrafish neurofibromatosis type 1 genes have redundant functions in tumorigenesis and embryonic development

Shin, J., Padmanabhan, A., De Groh, E. D., Lee, J. S., Haidar, S., Dahlberg, S., Guo, F., He, S., Wolman, M. A., Granato, M., Lawson, N. D., Wolfe, S. A., Kim, S. H., Solnica-Krezel, L., Kanki, J. P., Ligon, K. L., Epstein, J. A. & Look, A. T., Nov 2012, In: DMM Disease Models and Mechanisms. 5, 6, p. 881-894 14 p.

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

Open Access

77 Scopus citations

“Doctors can read about it, they can know about it, but they've never lived with it”: How parents use social media throughout the diagnostic odyssey

Undiagnosed Diseases Network, Dec 2021, In: Journal of Genetic Counseling. 30, 6, p. 1707-1718 12 p.

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

7 Scopus citations

Jimann Shin

Research output

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