Lilianna Solnica-Krezel

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, 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

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

127 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

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

Undiagnosed Diseases Network, Oct 2023, In: Journal of Pediatrics. 261, 113537.

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

Open Access

1 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

4 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

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

12 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

8 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

3 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

2 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

5 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

1 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

14 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

9 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

6 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

28 Scopus citations

A novel de novo intronic variant in ITPR1 causes Gillespie syndrome

Undiagnosed Diseases Network, Aug 2021, In: American Journal of Medical Genetics, Part A. 185, 8, p. 2315-2324 10 p.

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

Open Access

4 Scopus citations

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Undiagnosed Diseases Network, Feb 2021, In: Genetics in Medicine. 23, 2, p. 259-271 13 p.

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

Open Access

24 Scopus citations

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Undiagnosed Diseases Network, Jun 1 2021, In: Genetics in Medicine. 23, 6, p. 1075-1085 11 p.

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

Open Access

10 Scopus citations

Deeply-supervised density regression for automatic cell counting in microscopy images

He, S., Minn, K. T., Solnica-Krezel, L., Anastasio, M. A. & Li, H., Feb 2021, In: Medical Image Analysis. 68, 101892.

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

Open Access

50 Scopus citations

Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey

Undiagnosed Diseases Network, Jul 2021, In: Molecular Genetics and Genomic Medicine. 9, 7, e1665.

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

Open Access

12 Scopus citations

Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice

Undiagnosed Diseases Network, Apr 2021, In: Journal of Genetic Counseling. 30, 2, p. 439-447 9 p.

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

Open Access

4 Scopus citations

Gene expression dynamics underlying cell fate emergence in 2D micropatterned human embryonic stem cell gastruloids

Minn, K. T., Dietmann, S., Waye, S. E., Morris, S. A. & Solnica-Krezel, L., May 11 2021, In: Stem Cell Reports. 16, 5, p. 1210-1227 18 p.

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

Open Access

17 Scopus citations

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Undiagnosed Diseases Network, Oct 2021, In: Genetics in Medicine. 23, 10, p. 1889-1900 12 p.

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

Open Access

12 Scopus citations

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

Undiagnosed Diseases Network, Jul 2021, In: Human genetics. 140, 7, p. 1109-1120 12 p.

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

Open Access

17 Scopus citations

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: Current state and a future vision

Undiagnosed Diseases Network, 2021, In: Orphanet Journal of Rare Diseases. 16, 1, 206.

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

Open Access

42 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

22 Scopus citations

Postembryonic screen for mutations affecting spine development in zebrafish

Gray, R. S., Gonzalez, R., Ackerman, S. D., Minowa, R., Griest, J. F., Bayrak, M. N., Troutwine, B., Canter, S., Monk, K. R., Sepich, D. S. & Solnica-Krezel, L., Mar 2021, In: Developmental Biology. 471, p. 18-33 16 p.

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

Open Access

26 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

10 Scopus citations

Lilianna Solnica-Krezel

Research output

Search results