Lilianna Solnica-Krezel

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Lilianna Solnica-Krezel

Alan A and Edith L Wolff Professor of Developmental Biology, Professor of Developmental Biology, Head of the Department of Developmental Biology

 https://orcid.org/0000-0003-0983-221X

    Willing to Mentor

    Available to Mentor:

    PhD/MSTP Students

    • 16223
      Citations
    1985 …2025

    Research activity per year

    Search results

    • 2024

      Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network

      Undiagnosed Diseases Network, Feb 2025, In: American Journal of Medical Genetics, Part A. 197, 2, e63904.

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

      Open Access

    • A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

      Undiagnosed Diseases Network, Paul, M. S., Michener, S. L., Pan, H., Chan, H., Pfliger, J. M., Rosenfeld, J. A., Lerma, V. C., Tran, A., Longley, M. A., Lewis, R. A., Weisz-Hubshman, M., Bekheirnia, M. R., Bekheirnia, N., Massingham, L., Zech, M., Wagner, M., Engels, H., Cremer, K. & Mangold, E. & 181 others, Peters, S., Trautmann, J., Mester, J. L., Guillen Sacoto, M. J., Person, R., McDonnell, P. P., Cohen, S. R., Lusk, L., Cohen, A. S. A., Le Pichon, J. B., Pastinen, T., Zhou, D., Engleman, K., Racine, C., Faivre, L., Moutton, S., Denommé-Pichon, A. S., Koh, H. Y., Poduri, A., Bolton, J., Knopp, C., Julia Suh, D. S., Maier, A., Toosi, M. B., Karimiani, E. G., Maroofian, R., Schaefer, G. B., Ramakumaran, V., Vasudevan, P., Prasad, C., Osmond, M., Schuhmann, S., Vasileiou, G., Russ-Hall, S., Scheffer, I. E., Carvill, G. L., Mefford, H., Acosta, M. T., Adam, M., Adams, D. R., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Bacino, C. A., Bademci, G., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Berg-Rood, B., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Boyd, B., Briere, L. C., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Cassini, T., Chang, T. C. P., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Dell'Angelica, E. C., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Gahl, W. A., Glass, I., Gochuico, B., Goddard, P. C., Godfrey, R. A., Golden-Grant, K., Grajewski, A., Hadley, D., Hahn, S., Halley, M. C., Hamid, R., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jamal, F., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Karaviti, L., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Kozuira, M., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., LeBlanc, K., Lee, B. H., Levitt, R., Liu, P., Liu, X. Z., Longo, N., Loo, S. K., Loscalzo, J., Maas, R. L., Macnamara, E. F., MacRae, C. A., Maduro, V. V., Maghiro, A. S., Mahoney, R., Pak, S., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Jan 4 2024, In: American journal of human genetics. 111, 1, p. 96-118 23 p.

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

      Open Access
      4 Scopus citations

    • Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

      Deciphering Developmental Disorders, Genomics England Research Consortium, Undiagnosed Disease Network, Jeffries, L., Mis, E. K., McWalter, K., Donkervoort, S., Brodsky, N. N., Carpier, J. M., Ji, W., Ionita, C., Roy, B., Morrow, J. S., Darbinyan, A., Iyer, K., Aul, R. B., Banka, S., Chao, K. R., Cobbold, L. & Cohen, S. & 183 others, Custodio, H. M., Drummond-Borg, M., Elmslie, F., Finanger, E., Hainline, B. E., Helbig, I., Hewson, S., Hu, Y., Jackson, A., Josifova, D., Konstantino, M., Leach, M. E., Mak, B., McCormick, D., McGee, E., Nelson, S., Nguyen, J., Nugent, K., Ortega, L., Goodkin, H. P., Roeder, E., Roy, S., Sapp, K., Saade, D., Sisodiya, S. M., Stals, K., Towner, S., Wilson, W., Borras, S., Clark, C., Dean, J., Miedzybrodzka, Z., Ross, A., Tennant, S., Dabir, T., Donnelly, D., Humphreys, M., Magee, A., McConnell, V., McKee, S., McNerlan, S., Morrison, P. J., Rea, G., Stewart, F., Cole, T., Cooper, N., Cooper-Charles, L., Cox, H., Islam, L., Jarvis, J., Keelagher, R., Lim, D., McMullan, D., Morton, J., Naik, S., O'Driscoll, M., Ong, K. R., Osio, D., Ragge, N., Turton, S., Vogt, J., Williams, D., Bodek, S., Donaldson, A., Hills, A., Low, K., Newbury-Ecob, R., Norman, A. M., Roberts, E., Scurr, I., Smithson, S., Tooley, M., Abbs, S., Armstrong, R., Dunn, C., Holden, S., Park, S. M., Paterson, J., Raymond, L., Reid, E., Sandford, R., Simonic, I., Tischkowitz, M., Woods, G., Bradley, L., Comerford, J., Green, A., Lynch, S., McQuaid, S., Mullaney, B., Berg, J., Goudie, D., Mavrak, E., McLean, J., McWilliam, C., Reavey, E., Azam, T., Cleary, E., Jackson, A., Lam, W., Lampe, A., Moore, D., Porteous, M., Baple, E., Baptista, J., Brewer, C., Castle, B., Kivuva, E., Owens, M., Rankin, J., Shaw-Smith, C., Turner, C., Turnpenny, P., Tysoe, C., Bradley, T., Davidson, R., Gardiner, C., Joss, S., Kinning, E., Longman, C., McGowan, R., Murday, V., Pilz, D., Tobias, E., Whiteford, M., Williams, N., Barnicoat, A., Clement, E., Faravelli, F., Hurst, J., Jenkins, L., Jones, W., Ajith Kumar, V. K., Lees, M., Loughlin, S., Male, A., Morrogh, D., Rosser, E., Scott, R., Wilson, L., Beleza, A., Deshpande, C., Flinter, F., Holder, M., Irving, M., Izatt, L., Mohammed, S., Molenda, A., Robert, L., Roworth, W., Ruddy, D., Ryten, M., Yau, S., Bennett, C., Blyth, M., Campbell, J., Coates, A., Dobbie, A., Hewitt, S., Hobson, E., Jackson, E., Jewell, R., Kraus, A., Prescott, K., Sheridan, E., Thomson, J., Bradshaw, K., Dixit, A., Eason, J., Haines, R., Harrison, R., Mutch, S., Sarkar, A., Searle, C., Shannon, N., Sharif, A., Baldridge, D., Cole, F. S., Pak, S., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Feb 2024, In: Genetics in Medicine. 26, 2, 101023.

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

      1 Scopus citations

    • Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

      Undiagnosed Diseases Network, Nov 2024, In: Pediatric Neurology. 160, p. 45-53 9 p.

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

      Open Access

    • Criteria for the standardization of stem-cell-based embryo models

      Martinez Arias, A., Rivron, N., Moris, N., Tam, P., Alev, C., Fu, J., Hadjantonakis, A. K., Hanna, J. H., Minchiotti, G., Pourquie, O., Sheng, G., Solnica Krezel, L., Veenvliet, J. V. & Warmflash, A., Oct 2024, In: Nature Cell Biology. 26, 10, p. 1625-1628 4 p.

      Research output: Contribution to journal › Comment/debate

      2 Scopus citations

    • CXCR3-CXCL11 Signaling Restricts Angiogenesis and Promotes Pericyte Recruitment

      Lee, J., Goeckel, M. E., Levitas, A., Colijn, S., Shin, J., Hindes, A., Mun, G., Burton, Z., Chintalapati, B., Yin, Y., Abello, J., Solnica-Krezel, L. & Stratman, A. N., Dec 1 2024, In: Arteriosclerosis, thrombosis, and vascular biology. 44, 12, p. 2577-2595 19 p.

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

      Open Access

    • De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities

      Undiagnosed Diseases Network, Ward, S. K., Wadley, A., Tsai, C. H., Benke, P. J., Emrick, L., Fisher, K., Houck, K. M., Dai, H., Acosta, M. T., Adam, M., Adams, D. R., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Bacino, C. A., Bademci, G. & Balasubramanyam, A. & 181 others, Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Berg-Rood, B., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Boyd, B., Briere, L. C., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Cassini, T., Chang, T. C. P., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Dell'Angelica, E. C., Dickson, P., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Gahl, W. A., Glass, I., Gochuico, B., Goddard, P. C., Godfrey, R. A., Golden-Grant, K., Grajewski, A., Hadley, D., Hahn, S., Halley, M. C., Hamid, R., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jamal, F., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Karaviti, L., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Kozuira, M., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., LeBlanc, K., Lee, B. H., Levitt, R., Lewis, R. 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., Maghiro, A. S., Mahoney, R., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Maravilla, K., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCray, A. T., McGee, E., Mefford, H., Merritt, J. L., Might, M., Mirzaa, G., Morava, E., Moretti, P., Mulvihill, J., Nakano-Okuno, M., Nelson, S. F., Newman, J. H., Nicholas, S. K., Nickerson, D., Nieves-Rodriguez, S., 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., Potocki, L., Pusey Swerdzewski, B. N., Quinlan, A., Rao, D. A., Raper, A., Raskind, W., Renteria, G., Reuter, C. M., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Jan 2024, In: American Journal of Medical Genetics, Part A. 194, 1, p. 17-30 14 p.

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

    • De novo variants in DENND5B cause a neurodevelopmental disorder

      Undiagnosed Diseases Network, Scala, M., Tomati, V., Ferla, M., Lena, M., Cohen, J. S., Fatemi, A., Brokamp, E., Bican, A., Phillips, J. A., Koziura, M. E., Nicouleau, M., Rio, M., Siquier, K., Boddaert, N., Musante, I., Tamburro, S., Baldassari, S., Iacomino, M. & Scudieri, P. & 181 others, Acosta, M. T., Adams, D. R., Alvarez, R. L., Alvey, J., Allworth, A., Andrews, A., Ashley, E. A., Afzali, B., Bacino, C. A., Bademci, G., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Bernstein, J. A., Berry, G. T., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Briere, L. C., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Cassini, T., Chang, T. C. P., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Delgado, M., Dell'Angelica, E. C., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Fu, J., Gahl, W. A., Glass, I., Goddard, P. C., Godfrey, R. A., Grajewski, A., Gropman, A., Halley, M. C., Hamid, R., Hanchard, N., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Huang, Y., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Kaitryn, E., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., LeBlanc, K., Lee, B. H., Levitt, R., Lewis, R. 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., Maghiro, A. S., Mahoney, R., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCray, A. T., McGee, E., Might, M., Miller, D., Mirzaa, G., Morava, E., Moretti, P., Morimoto, M., Mulvihill, J. J., Nakano-Okuno, M., Nelson, S. F., Nieves-Rodriguez, S., Novacic, D., Oglesbee, D., Orengo, J. P., Pace, L., Pak, S., Pallais, J. C., Papp, J. C., Parker, N. H., Petcharet, L., Posey, J. E., Potocki, L., Swerdzewski, B. N. P., Quinlan, A., Rao, D. A., Raper, A., Raskind, W., Renteria, G., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Mar 7 2024, In: American journal of human genetics. 111, 3, p. 529-543 15 p.

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

      Open Access

    • Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

      Undiagnosed Diseases Network, Sep 2024, In: Genetics in Medicine. 26, 9, 101174.

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

    • EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder

      Undiagnosed Diseases Network, Forghani, I., Lang, S. H., Rodier, M. J., Bivona, S. A., Acosta, M. T., Adam, M., Adams, D. R., Agrawal, P. B., Alejandro, M. E., Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Azamian, M. S., Bacino, C. A., Bademci, G., Baker, E., Balasubramanyam, A. & Baldridge, D. & 181 others, Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bennet, J., Berg-Rood, B., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonnenmann, C., Bonner, D., Botto, L., Boyd, B., Briere, L. C., Brokamp, E., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., 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., Coggins, M., Cole, F. S., Colley, H. A., Cooper, C. M., Cope, H., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Deardorff, M., Dell'Angelica, E. C., Dhar, S. U., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Draper, D. D., Duncan, L., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Esteves, C., Falk, M., Fernandez, L., Ferreira, C., Fieg, E. L., Findley, L. C., Fisher, P. G., Fogel, B. L., Forghani, I., Fresard, L., Gahl, W. A., Glass, I., Gochuico, B., Godfrey, R. A., Golden-Grant, K., Goldman, A. M., Goldrich, M. P., Goldstein, D. B., Grajewski, A., Groden, C. A., Gutierrez, I., Hahn, S., Hamid, R., Hanchard, N. A., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Huang, Y., Huryn, L., Isasi, R., Jamal, F., Jarvik, G. P., Jarvik, J., Jayadev, S., Karaviti, L., Kennedy, J., Kiley, D., Kobren, S. N., Kohane, I. S., Kohler, J. N., Krakow, D., Krasnewich, D. M., Kravets, E., Korrick, S., Koziura, M., Krier, J. B., Lalani, S. R., Lam, B., Lam, C., LaMoure, G. L., Lanpher, B. C., Lanza, I. R., Latham, L., 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., MacDowall, J., Macnamara, E. F., MacRae, C. A., Maduro, V. V., Majcherska, M. M., Mak, B. C., 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., McGee, E., Mefford, H., Merritt, J. L., Might, M., Mirzaa, G., Morava, E., Moretti, P. M., Mosbrook-Davis, D., Mulvihill, J. J., Murdock, D. R., Nagy, A., Nakano-Okuno, M., Nath, A., Nelson, S. F., Newman, J. H., Nicholas, S. K., Nickerson, D., Nieves-Rodriguez, S., Novacic, D., Pak, S. C., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Jun 2024, In: American Journal of Medical Genetics, Part A. 194, 6, e63556.

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

      1 Scopus citations

    • Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

      Undiagnosed Diseases Network, Pucel, J., Briere, L. C., Reuter, C., Gochyyev, P., Acosta, M. T., Adams, D. R., Alvarez, R. L., Alvey, J., Allworth, A., Andrews, A., Ashley, E. A., Bacino, C. A., Bademci, G., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D. & Bayrak-Toydemir, P. & 181 others, Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Cassini, T., Peter Chang, T. C., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Dell'Angelica, E. C., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Gahl, W. A., Glass, I., Gochuico, B., Goddard, P. C., Godfrey, R. A., Grajewski, A., Hadley, D., Halley, M. C., Hamid, R., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Kaitryn, E., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., LeBlanc, K., Lee, B. H., Levitt, R., Lewis, R. 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., Maghiro, A. S., Mahoney, R., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCray, A. T., McGee, E., Might, M., Miller, D., Mirzaa, G., Morava, E., Moretti, P., Mulvihill, J. J., Nakano-Okuno, M., Nelson, S. F., Nieves-Rodriguez, S., 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., Potocki, L., Pusey Swerdzewski, B. N., Quinlan, A., Rao, D. A., Raper, A., Raskind, W., Renteria, G., Reuter, C. M., Rives, L., Robertson, A. K., Rodan, L. H., Rosenfeld, J. A., Rosenthal, E., Rossignol, F., Ruzhnikov, M., Sacco, R., Sampson, J. B., Saporta, M., Schaechter, J., Schedl, T., Schoch, K., Scott, D. A., Seto, E., Shashi, V., Shelkowitz, E., Sheppeard, S., Shin, J., Silverman, E. K., Solnica-Krezel, L. & Wambach, J., Jun 2024, In: Genetics in Medicine. 26, 6, 101115.

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

    • Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant

      Undiagnosed Diseases Network, Aug 2024, In: American Journal of Medical Genetics, Part A. 194, 8, e63627.

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

      Open Access

    • Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

      Undiagnosed Diseases Network, Nov 2024, In: Genetics in Medicine. 26, 11, 101218.

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

      Open Access

    • Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder

      Undiagnosed Diseases Network, Sep 2024, In: Genetics in Medicine. 26, 9, 101166.

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

      1 Scopus citations

    • LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

      Undiagnosed Diseases Network, Lu, J., Toro, C., Adams, D. R., Moreno, C. A. M., Lee, W. P., Leung, Y. Y., Harms, M. B., Vardarajan, B., Heinzen, E. L., Acosta, M. T., Adam, M., Izumi, K., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Bacino, C. A. & Bademci, G. & 181 others, Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Berg-Rood, B., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Boyd, B., Briere, L. C., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Cassini, T., Chang, T. C. P., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D’Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Dell’Angelica, E. C., Dickson, P., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Gahl, W. A., Glass, I., Gochuico, B., Goddard, P. C., Godfrey, R. A., Golden-Grant, K., Grajewski, A., Hadley, D., Hahn, S., Halley, M. C., Hamid, R., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jamal, F., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Karaviti, L., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Kozuira, M., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., LeBlanc, K., Lee, B. H., Levitt, R., Lewis, R. 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., Maghiro, A. S., Mahoney, R., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Maravilla, K., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCray, A. T., McGee, E., Mefford, H., Merritt, J. L., Might, M., Mirzaa, G., Morava, E., Moretti, P., Mulvihill, J., Nakano-Okuno, M., Nelson, S. F., Newman, J. H., Nicholas, S. K., Nickerson, D., Nieves-Rodriguez, S., 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., Potocki, L., Swerdzewski, B. N. P., Quinlan, A., Rao, D. A., Raper, A., Raskind, W., Renteria, G., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Dec 2024, In: BMC genomics. 25, 1, 115.

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

      Open Access

    • Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy

      Undiagnosed Diseases Network, Nov 2024, In: American Journal of Medical Genetics, Part A. 194, 11, e63798.

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

    • Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism

      Undiagnosed Diseases Network, Dohrn, M. F., Bademci, G., Rebelo, A. P., Jeanne, M., Borja, N. A., Beijer, D., Danzi, M. C., Bivona, S. A., Gueguen, P., Zafeer, M. F., Tekin, M., Züchner, S., Acosta, M. T., Adams, D. R., Afzali, B., Allworth, A., Alvarez, R. L., Alvey, J. & Andrews, A. & 181 others, Ashley, E. A., Bacino, C. A., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Borja, N., Botto, L., Briere, L. C., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Cassini, T., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, S., Colley, H. A., Cope, H., Corner, B., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Delgado, M., Dell'Angelica, E. C., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., D'Souza, P., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Ezell, K., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Fu, J., Gahl, W. A., Glass, I., Goddard, P. C., Godfrey, R. A., Gonzalez, J. M., Gropman, A., Halley, M. C., Hamid, R., Hanchard, N., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, Y., Huang, A., Hutchison, S., Introne, W., Izumi, K., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Kaitryn, E., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, C., Lanpher, B. C., Lanza, I. R., Latchman, K., LeBlanc, K., Lee, B. H., Lewis, R. A., Liu, P., Longo, N., Loo, S. K., Loscalzo, J., Maas, R. L., Macnamara, E. F., MacRae, C. A., Maduro, V. V., Maghiro, A. S. C., Mahoney, R., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McConkie-Rosell, A., McCray, A. T., McGee, E., Might, M., Miller, D., Mirzaa, G., Morava, E., Moretti, P., Morimoto, M., Mulvihill, J. J., Nakano-Okuno, M., Nelson, S. F., Neumann, S., Nieves-Rodriguez, S., Novacic, D., Oglesbee, D., Orengo, J. P., Pace, L., Pak, S., Pallais, J. C., Papp, J. C., Parker, N. H., Peart, L., Petcharet, L., Phillips, J. A., Posey, J. E., Potocki, L., Pusey Swerdzewski, B. N., Quinlan, A., Rao, D. A., Raper, A., Raskind, W., Rebelo, A., Renteria, G., Reuter, C. M., Rives, L., Robertson, A. K., Rodan, L. H., Rosenfeld, J. A., Rosenthal, E., Rossignol, F., Ruzhnikov, M., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Apr 2024, In: Annals of Clinical and Translational Neurology. 11, 4, p. 1075-1079 5 p.

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

      Open Access

    • Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy

      Undiagnosed Diseases Network, Mar 2024, In: Annals of Clinical and Translational Neurology. 11, 3, p. 629-640 12 p.

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

      Open Access
      1 Scopus citations

    • The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

      Undiagnosed Diseases Network, Oct 2024, In: Genetics in Medicine. 26, 10, 101203.

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

    • VPS13B is localized at the interface between Golgi cisternae and is a functional partner of FAM177A1

      Ugur, B., Schueder, F., Shin, J., Hanna, M. G., Wu, Y., Leonzino, M., Su, M., McAdow, A. R., Wilson, C., Postlethwait, J., Solnica-Krezel, L., Bewersdorf, J. & De Camilli, P., Dec 2 2024, In: The Journal of cell biology. 223, 12

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

      Open Access
      1 Scopus citations
    • 2023

      A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

      Undiagnosed Diseases Network, Undiagnosed Diseases Network, Baldridge, D., Cole, F. S., Pak, S., Quinlan, A., Schedl, T., Solnica-Krezel, L. & Wambach, J., Apr 2023, In: Genetics in Medicine. 25, 4, 100353.

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

      Open Access
      1 Scopus citations

    • Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

      Undiagnosed Diseases Network, Baldridge, D., Cole, F. S., Pak, S., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Dec 2023, In: npj Genomic Medicine. 8, 1, 4.

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

      Open Access
      7 Scopus citations

    • Bi-allelic variants in INTS11 are associated with a complex neurological disorder

      Undiagnosed Diseases Network, Granadillo De Luque, J. L., Wegner, D. J., Baldridge, D., Bohnsack, J., Cole, F. S., McCray, A. T., McGee, E., Merritt, J. L., Shin, J. & Wambach, J., May 4 2023, In: American journal of human genetics. 110, 5, p. 774-789 16 p.

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

      Open Access
      11 Scopus citations

    • Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

      Undiagnosed Diseases Network, Shashi, V., Schoch, K., Ganetzky, R., Muraresku, C., Ganetzky, R., Kranz, P. G., Sondheimer, N., Markert, M. L., Valdez, P., Markert, M. L., Cope, H., Sadeghpour, A., Sadeghpour, A., Roehrs, P., Arbogast, T., Davis, E. E., Tyndall, A. V., Ping-Yee Au, B. & Parboosingh, J. S. & 181 others, Lamont, R. E., Bernier, F. P., Innes, A. M., Esser, M. J., Woodward, K. E., Wright, N. A. M., Benseler, S. M., Parsons, S. J., El-Dairi, M., Smith, E. C., Tennison, M., Davis, E. E., Acosta, M. T., Adam, M., Adams, D. R., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Bacino, C. A., Bademci, G., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Berg-Rood, B., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Boyd, B., Briere, L. C., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Cassini, T., Peter Chang, T. C., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Dell'Angelica, E. C., Dickson, P., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Gahl, W. A., Glass, I., Gochuico, B., Goddard, P. C., Godfrey, R. A., Golden-Grant, K., Grajewski, A., Hadley, D., Hahn, S., Halley, M. C., Hamid, R., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jamal, F., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Karaviti, L., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Kozuira, M., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., LeBlanc, K., Lee, B. H., Levitt, R., Lewis, R. 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., Maghiro, A. S., Mahoney, R., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Maravilla, K., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCray, A. T., McGee, E., Mefford, H., Merritt, J. L., Might, M., Mirzaa, G., Morava, E., Moretti, P., Mulvihill, J., Nakano-Okuno, M., Pak, S., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Sep 2023, In: Genetics in Medicine. 25, 9, 100897.

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

      Open Access
      5 Scopus citations

    • Continuing a search for a diagnosis: the impact of adolescence and family dynamics

      Undiagnosed Disease Network, Baldridge, D., Cole, F. S., Pak, S., Schedl, T., Solnica-Krezel, L. & Wambach, J., Dec 2023, In: Orphanet Journal of Rare Diseases. 18, 1, 6.

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

      Open Access
      2 Scopus citations

    • Deletion of taf1 and taf5 in zebrafish capitulate cardiac and craniofacial abnormalities associated with TAFopathies through perturbations in metabolism

      Leid, J., Gray, R., Rakita, P., Koenig, A. L., Tripathy, R., Fitzpatrick, J. A. J., Kaufman, C., Solnica-Krezel, L. & Lavine, K. J., Jul 2023, In: Biology Open. 12, 7, bio059905.

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

      Open Access
      2 Scopus citations

    • De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

      Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Morleo, M., Venditti, R., Theodorou, E., Briere, L. C., Rosello, M., Tirozzi, A., Tammaro, R., Al-Badri, N., High, F. A., Shi, J., Acosta, M. T., Adam, M., Adams, D. R., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A. & Ashley, E. A. & 182 others, Bacino, C. A., Bademci, G., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Berg-Rood, B., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Boyd, B., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Cassini, T., Chang, T. C. P., Chanprasert, S., Chao, H. T., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cooper, C. M., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Dell'Angelica, E. C., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Gahl, W. A., Glass, I., Gochuico, B., Goddard, P. C., Godfrey, R. A., Golden-Grant, K., Grajewski, A., Hadley, D., Hahn, S., Halley, M. C., Hamid, R., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jamal, F., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Karaviti, L., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Kozuira, M., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., LeBlanc, K., Lee, B. H., Levitt, R., Lewis, R. 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., Maghiro, A. S., Mahoney, R., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Maravilla, K., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCray, A. T., McGee, E., Mefford, H., Merritt, J. L., Might, M., Mirzaa, G., Morava, E., Moretti, P., Mulvihill, J., Nakano-Okuno, M., Nelson, S. F., Newman, J. H., Nicholas, S. K., Nickerson, D., Nieves-Rodriguez, S., 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., Potocki, L., Pusey Swerdzewski, B. N., Quinlan, A., Rao, D. A., Raper, A., Raskind, W., Renteria, G., Reuter, C. M., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Aug 3 2023, In: American journal of human genetics. 110, 8, p. 1377-1393 17 p.

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

      Open Access
      1 Scopus citations

    • De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

      Undiagnosed Diseases Network, Baldridge, D., Bellen, H. J., Cole, F. S., Pak, S., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Jun 2023, In: Genetics in Medicine. 25, 6, 100833.

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

      Open Access
      3 Scopus citations

    • Dissecting cell identity via network inference and in silico gene perturbation

      Kamimoto, K., Stringa, B., Hoffmann, C. M., Jindal, K., Solnica-Krezel, L. & Morris, S. A., Feb 23 2023, In: Nature. 614, 7949, p. 742-751 10 p.

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

      Open Access
      156 Scopus citations

    • Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

      University of Washington Center for Mendelian Genomics (UW-CMG), Undiagnosed Diseases Network (UDN), Jun 2023, In: Annals of Clinical and Translational Neurology. 10, 6, p. 1046-1053 8 p.

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

      Open Access
      2 Scopus citations

    • Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

      Undiagnosed Diseases Network, Halley, M. C., Young, J. L., Tang, C., Mintz, K. T., Lucas-Griffin, S., Maghiro, A. S., Ashley, E. A., Tabor, H. K., Acosta, M. T., Adam, M., Adams, D. R., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A., Bacino, C. A., Bademci, G., Balasubramanyam, A. & Baldridge, D. & 181 others, Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Berg-Rood, B., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Boyd, B., Briere, L. C., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Cassini, T., Peter Chang, T. C., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Sessions Cole, F., Colley, H. A., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Dell'Angelica, E. C., Dickson, P., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Gahl, W. A., Glass, I., Gochuico, B., Goddard, P. C., Godfrey, R. A., Golden-Grant, K., Grajewski, A., Hadley, D., Hahn, S., Hamid, R., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Kozuira, M., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., LeBlanc, K., Lee, B. H., Levitt, R., Lewis, R. 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., Mahoney, R., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Maravilla, K., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCray, A. T., McGee, E., Mefford, H., Merritt, J. L., Might, M., Mirzaa, G., Morava, E., Moretti, P., Mulvihill, J. J., Nakano-Okuno, M., Nelson, S. F., Newman, J. H., Nickerson, D., Nieves-Rodriguez, S., Novacic, D., Oglesbee, D., Orengo, J. P., Pace, L., Pak, S., Carl Pallais, J., Palmer, C. G. S., Papp, J. C., Parker, N. H., Phillips, J. A., Posey, J. E., Potocki, L., Pusey Swerdzewski, B. N., Quinlan, A., Rao, D. A., Raper, A., Raskind, W., Renteria, G., Reuter, C. M., Rives, L., Robertson, A. K., Rodan, L. H., Rosenfeld, J. A., Rosenwasser, N., Rossignol, F., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Oct 2023, In: Journal of Pediatrics. 261, 113537.

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

      Open Access
      2 Scopus citations

    • H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome

      Undiagnosed Diseases Network, Baldridge, D., Cole, F. S., Pak, S. C., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Jul 2023, In: American Journal of Medical Genetics, Part A. 191, 7, p. 1911-1916 6 p.

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

      Open Access

    • HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

      Genomics England Research Consortium & Undiagnosed Diseases Network, Aug 3 2023, In: American journal of human genetics. 110, 8, p. 1414-1435 22 p.

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

      Open Access
      5 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

    • Signaling mechanisms that direct cell fate specification and morphogenesis in human embryonic stem cells-based models of human gastrulation

      Stringa, B. & Solnica-Krezel, L., 2023, In: Emerging Topics in Life Sciences. 7, 4, p. 383-396 14 p.

      Research output: Contribution to journal › Review article › peer-review

    • 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 others, Azamian, 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
      14 Scopus citations

    • Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors

      Undiagnosed Diseases Network, Oct 2023, In: Journal of Genetic Counseling. 32, 5, p. 993-1008 16 p.

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

      5 Scopus citations
    • 2022

      A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

      Undiagnosed Diseases Network, Jul 2022, In: Genetics in Medicine. 24, 7, p. 1567-1582 16 p.

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

      Open Access
      9 Scopus citations

    • CARMIL3 is important for cell migration and morphogenesis during early development in zebrafish: CARMIL3 and early development

      Stark, B. C., Gao, Y., Sepich, D. S., Belk, L., Culver, M. A., Hu, B., Mekel, M., Ferris, W., Shin, J., Solnica-Krezel, L., Lin, F. & Cooper, J. A., Jan 2022, In: Developmental Biology. 481, p. 148-159 12 p.

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

      Open Access
      4 Scopus citations

    • Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples

      Undiagnosed Disease Network, Feb 2022, In: Journal of Genetic Counseling. 31, 1, p. 59-70 12 p.

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

      Open Access
      3 Scopus citations

    • Endocannabinoid dysfunction in neurological disease: Neuro-ocular DAGLA-related syndrome

      Undiagnosed Disease Network, Oct 1 2022, In: Brain. 145, 10, p. 3383-3390 8 p.

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

      Open Access
      7 Scopus citations

    • Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation

      Undiagnosed Diseases Network, Apr 2022, In: Journal of Genetic Counseling. 31, 2, p. 326-337 12 p.

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

      3 Scopus citations

    • Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease

      Undiagnosed Disease Network, Apr 1 2022, In: Molecular Genetics and Genomic Medicine. 10, 4, e1892.

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

      Open Access
      4 Scopus citations

    • Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling

      Undiagnosed Diseases Network, Jan 2022, In: Science Advances. 8, 3, eabl5613.

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

      Open Access
      18 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

      Open Access
      2 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

      Open Access
      11 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

      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

      22 Scopus citations
    • 2021

      20 years of Developmental Cell: Looking back

      Chory, J., Olson, E. N., Solnica-Krezel, L., Munro, S., Fuchs, E., St. Johnston, D., Lefebvre, V., Coupland, G., Millar, S. E. & Lin, H., Dec 6 2021, In: Developmental cell. 56, 23, p. 3181-3184 4 p.

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

      Open Access

    • An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

      Undiagnosed Diseases Network, Apr 2021, In: Genetics in Medicine. 23, 4, p. 740-750 11 p.

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

      Open Access
      29 Scopus citations