Peter Jin

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Peter Jin

Assistant Professor of Genetics, Assistant Professor of Pediatrics

 https://orcid.org/0000-0002-5777-7262

    Willing to Mentor

    Available to Mentor:

    PhD/MSTP Students

    • 5453
      Citations
    20092024

    Research activity per year

    Search results

    • 2024

      A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus

      Singh, A. K., Allington, G., Viviano, S., McGee, S., Kiziltug, E., Ma, S., Zhao, S., Mekbib, K. Y., Shohfi, J. P., Duy, P. Q., DeSpenza, T., Furey, C. G., Reeves, B. C., Smith, H., Sousa, A. M. M., Cherskov, A., Allocco, A., Nelson-Williams, C., Haider, S. & Rizvi, S. R. A. & 10 others, Alper, S. L., Sestan, N., Shimelis, H., Walsh, L. K., Lifton, R. P., Moreno-De-Luca, A., Jin, S. C., Kruszka, P., Deniz, E. & Kahle, K. T., Apr 1 2024, In: Brain. 147, 4, p. 1553-1570 18 p.

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

      4 Scopus citations

    • Potential clinical applications of advanced genomic analysis in cerebral palsy

      Lewis, S. A., Ruttenberg, A., Iyiyol, T., Kong, N., Jin, S. C. & Kruer, M. C., Aug 2024, In: EBioMedicine. 106, 105229.

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

      Open Access

    • Reply to Pisan et al. Pathogenicity of inherited TRAF7 mutations in congenital heart disease

      Mishra-Gorur, K., Barak, T., Kaulen, L. D., Henegariu, O., Jin, S. C., Aguilera, S. M., Yalbir, E., Goles, G., Nishimura, S., Miyagishima, D., Djenoune, L., Altinok, S., Rai, D. K., Viviano, S., Prendergast, A., Zerillo, C., Ozcan, K., Baran, B., Sencar, L. & Goc, N. & 10 others, Yarman, Y., Ercan-Encicek, A. G., Bilguvar, K., Lifton, R. P., Moliterno, J., Louvi, A., Yuan, S., Deniz, E., Brueckner, M. & Gunel, M., Mar 19 2024, In: Proceedings of the National Academy of Sciences of the United States of America. 121, 12, e2319578121.

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

      Open Access

    • TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

      Almousa, H., Lewis, S. A., Bakhtiari, S., Nordlie, S. H., Pagnozzi, A., Magee, H., Efthymiou, S., Heim, J. A., Cornejo, P., Zaki, M. S., Anwar, N., Maqbool, S., Rahman, F., Neilson, D. E., Vemuri, A., Jin, S. C., Yang, X. R., Heidari, A., Van Gassen, K. & Trimouille, A. & 40 others, Thauvin-Robinet, C., Liu, J., Bruel, A. L., Tomoum, H., Shata, M. O., Hashem, M. O., Toosi, M. B., Karimiani, E. G., Yeşil, G., Lingappa, L., Baruah, D., Ebrahimzadeh, F., Van-Gils, J., Faivre, L., Zamani, M., Galehdari, H., Sadeghian, S., Shariati, G., Mohammad, R., Van Der Smagt, J., Qari, A., Vincent, J. B., Innes, A. M., Dursun, A., Özgül, R. K., Akar, H. T., Bilguvar, K., Mignot, C., Keren, B., Raveli, C., Burglen, L., Afenjar, A., Kaat, L. D., Van Slegtenhorst, M., Alkuraya, F., Houlden, H., Padilla-Lopez, S., Maroofian, R., Sacher, M. & Kruer, M. C., Jan 1 2024, In: Brain. 147, 1, p. 311-324 14 p.

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

      Open Access
      3 Scopus citations

    • TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus

      Duy, P. Q., Jux, B., Zhao, S., Mekbib, K. Y., Dennis, E., Dong, W., Nelson-Williams, C., Mehta, N. H., Shohfi, J. P., Juusola, J., Allington, G., Smith, H., Marlin, S., Belhous, K., Monteleone, B., Schaefer, G. B., Pisarska, M. D., Vásquez, J., Estrada-Veras, J. I. & Keren, B. & 10 others, Mignot, C., Flore, L. A., Palafoll, I. V., Alper, S. L., Lifton, R. P., Haider, S., Moreno-De-Luca, A., Jin, S. C., Kolanus, W. & Kahle, K. T., Dec 1 2024, In: Brain. 147, 12, p. 4292-4305 14 p.

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

      1 Scopus citations

    • Variants in autophagy genes MTMR12 and FAM134A are putative modifiers of the hepatic phenotype in α1-antitrypsin deficiency

      Tafaleng, E. N., Li, J., Wang, Y., Hidvegi, T., Soto-Gutierrez, A., Locke, A. E., Nicholas, T. J., Wang, Y. C., Pak, S., Cho, M. H., Silverman, E. K., Silverman, G. A., Jin, S. C., Fox, I. J. & Perlmutter, D. H., Oct 1 2024, In: Hepatology. 80, 4, p. 859-871 13 p.

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

      Open Access
    • 2023

      A neural stem cell paradigm of pediatric hydrocephalus

      Duy, P. Q., Rakic, P., Alper, S. L., Robert, S. M., Kundishora, A. J., Butler, W. E., Walsh, C. A., Sestan, N., Geschwind, D. H., Jin, S. C. & Kahle, K. T., Apr 15 2023, In: Cerebral Cortex. 33, 8, p. 4262-4279 18 p.

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

      Open Access
      19 Scopus citations

    • De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis

      Yale Center for Genome Analysis, Jan 2023, In: Human genetics. 142, 1, p. 21-32 12 p.

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

      14 Scopus citations

    • De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis

      Timberlake, A. T., McGee, S., Allington, G., Kiziltug, E., Wolfe, E. M., Stiegler, A. L., Boggon, T. J., Sanyoura, M., Morrow, M., Wenger, T. L., Fernandes, E. M., Caluseriu, O., Persing, J. A., Jin, S. C., Lifton, R. P., Kahle, K. T. & Kruszka, P., May 4 2023, In: American journal of human genetics. 110, 5, p. 846-862 17 p.

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

      Open Access
      9 Scopus citations

    • De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children

      Ahmad, N., Fazeli, W., Schließke, S., Lesca, G., Gokce-Samar, Z., Mekbib, K. Y., Jin, S. C., Burton, J., Hoganson, G., Petersen, A., Gracie, S., Granger, L., Bartels, E., Oppermann, H., Kundishora, A., Till, M., Milleret-Pignot, C., Dangerfield, S., Viskochil, D. & Anderson, K. J. & 11 others, Palculict, T. B., Schnur, R. E., Wentzensen, I. M., Tiller, G. E., Kahle, K. T., Kunz, W. S., Burkart, S., Simons, M., Sticht, H., Abou Jamra, R. & Neuser, S., Nov 2023, In: Pediatric Neurology. 148, p. 164-171 8 p.

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

    • Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis

      Qureshi, H. M., Mekbib, K. Y., Allington, G., Elsamadicy, A. A., Duy, P. Q., Kundishora, A. J., Jin, S. C. & Kahle, K. T., Mar 15 2023, In: Cerebral Cortex. 33, 6, p. 3012-3025 14 p.

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

      Open Access
      7 Scopus citations

    • Human genetics and molecular genomics of Chiari malformation type 1

      Mekbib, K. Y., Muñoz, W., Allington, G., McGee, S., Mehta, N. H., Shofi, J. P., Fortes, C., Le, H. T., Nelson-Williams, C., Nanda, P., Dennis, E., Kundishora, A. J., Khanna, A., Smith, H., Ocken, J., Greenberg, A. B. W., Wu, R., Moreno-De-Luca, A., DeSpenza, T. & Zhao, S. & 5 others, Marlier, A., Jin, S. C., Alper, S. L., Butler, W. E. & Kahle, K. T., Dec 2023, In: Trends in Molecular Medicine. 29, 12, p. 1059-1075 17 p.

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

      3 Scopus citations

    • Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus A Systematic Review and Meta-Analysis

      Greenberg, A. B. W., Mehta, N. H., Allington, G., Jin, S. C., Moreno-De-Luca, A. & Kahle, K. T., Nov 22 2023, In: JAMA Network Open. 6, 11, p. E2343384

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

      Open Access
      3 Scopus citations

    • Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

      Kundishora, A. J., Allington, G., McGee, S., Mekbib, K. Y., Gainullin, V., Timberlake, A. T., Nelson-Williams, C., Kiziltug, E., Smith, H., Ocken, J., Shohfi, J., Allocco, A., Duy, P. Q., Elsamadicy, A. A., Dong, W., Zhao, S., Wang, Y. C., Qureshi, H. M., DiLuna, M. L. & Mane, S. & 16 others, Tikhonova, I. R., Fu, P. Y., Castaldi, C., López-Giráldez, F., Knight, J. R., Furey, C. G., Carter, B. S., Haider, S., Moreno-De-Luca, A., Alper, S. L., Gunel, M., Millan, F., Lifton, R. P., Torene, R. I., Jin, S. C. & Kahle, K. T., 2023, (Accepted/In press) In: Nature medicine.

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

      4 Scopus citations

    • Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations

      Zhao, S., Mekbib, K. Y., van der Ent, M. A., Allington, G., Prendergast, A., Chau, J. E., Smith, H., Shohfi, J., Ocken, J., Duran, D., Furey, C. G., Hao, L. T., Duy, P. Q., Reeves, B. C., Zhang, J., Nelson-Williams, C., Chen, D., Li, B., Nottoli, T. & Bai, S. & 46 others, Rolle, M., Zeng, X., Dong, W., Fu, P. Y., Wang, Y. C., Mane, S., Piwowarczyk, P., Fehnel, K. P., See, A. P., Iskandar, B. J., Aagaard-Kienitz, B., Moyer, Q. J., Dennis, E., Kiziltug, E., Kundishora, A. J., DeSpenza, T., Greenberg, A. B. W., Kidanemariam, S. M., Hale, A. T., Johnston, J. M., Jackson, E. M., Storm, P. B., Lang, S. S., Butler, W. E., Carter, B. S., Chapman, P., Stapleton, C. J., Patel, A. B., Rodesch, G., Smajda, S., Berenstein, A., Barak, T., Erson-Omay, E. Z., Zhao, H., Moreno-De-Luca, A., Proctor, M. R., Smith, E. R., Orbach, D. B., Alper, S. L., Nicoli, S., Boggon, T. J., Lifton, R. P., Gunel, M., King, P. D., Jin, S. C. & Kahle, K. T., Dec 2023, In: Nature communications. 14, 1, 7452.

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

      Open Access
      9 Scopus citations

    • Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease

      Mishra-Gorur, K., Barak, T., Kaulen, L. D., Henegariu, O., Jin, S. C., Aguilera, S. M., Yalbir, E., Goles, G., Nishimura, S., Miyagishima, D., Djenoune, L., Altinok, S., Rai, D. K., Viviano, S., Prendergast, A., Zerillo, C., Ozcan, K., Baran, B., Sencar, L. & Goc, N. & 10 others, Yarman, Y., Ercan-Sencicek, A. G., Bilguvar, K., Lifton, R. P., Moliterno, J., Louvi, A., Yuan, S., Deniz, E., Brueckner, M. & Gunel, M., Apr 18 2023, In: Proceedings of the National Academy of Sciences of the United States of America. 120, 16, e2214997120.

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

      Open Access
      7 Scopus citations

    • Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease

      University of Washington Center for Mendelian Genomics, Pinard, A., Ye, W., Fraser, S. M., Rosenfeld, J. A., Pichurin, P., Hickey, S. E., Guo, D., Cecchi, A. C., Boerio, M. L., Guey, S., Aloui, C., Lee, K., Kraemer, M., Alyemni, S. O., Bamshad, M. J., Nickerson, D. A., Tournier-Lasserve, E., Haider, S. & Jin, S. C. & 5 others, Smith, E. R., Kahle, K. T., Jan, L. Y., He, M. & Milewicz, D. M., Sep 1 2023, In: Brain. 146, 9, p. 3616-3623 8 p.

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

      Open Access
      12 Scopus citations
    • 2022

      Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement

      Zech, M., Kumar, K. R., Reining, S., Reunert, J., Tchan, M., Riley, L. G., Drew, A. P., Adam, R. J., Berutti, R., Biskup, S., Derive, N., Bakhtiari, S., Jin, S. C., Kruer, M. C., Bardakjian, T., Gonzalez-Alegre, P., Keller Sarmiento, I. J., Mencacci, N. E., Lubbe, S. J. & Kurian, M. A. & 9 others, Clot, F., Méneret, A., de Sainte Agathe, J. M., Fung, V. S. C., Vidailhet, M., Baumann, M., Marquardt, T., Winkelmann, J. & Boesch, S., Jan 2022, In: Movement Disorders. 37, 1, p. 137-147 11 p.

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

      Open Access
      17 Scopus citations

    • Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

      Calame, D. G., Herman, I., Maroofian, R., Marshall, A. E., Donis, K. C., Fatih, J. M., Mitani, T., Du, H., Grochowski, C. M., Sousa, S. B., Gijavanekar, C., Bakhtiari, S., Ito, Y. A., Rocca, C., Hunter, J. V., Sutton, V. R., Emrick, L. T., Boycott, K. M., Lossos, A. & Fellig, Y. & 45 others, Prus, E., Kalish, Y., Meiner, V., Suerink, M., Ruivenkamp, C., Muirhead, K., Saadi, N. W., Zaki, M. S., Bouman, A., Barakat, T. S., Skidmore, D. L., Osmond, M., Silva, T. O., Murphy, D., Karimiani, E. G., Jamshidi, Y., Jaddoa, A. G., Tajsharghi, H., Jin, S. C., Abbaszadegan, M. R., Ebrahimzadeh-Vesal, R., Hosseini, S., Alavi, S., Bahreini, A., Zarean, E., Salehi, M. M., Al-Sannaa, N. A., Zifarelli, G., Bauer, P., Robson, S. C., Coban-Akdemir, Z., Travaglini, L., Nicita, F., Jhangiani, S. N., Gibbs, R. A., Posey, J. E., Kruer, M. C., Kernohan, K. D., Morales Saute, J. A., Houlden, H., Vanderver, A., Elsea, S. H., Pehlivan, D., Marafi, D. & Lupski, J. R., Aug 2022, In: Annals of neurology. 92, 2, p. 304-321 18 p.

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

      Open Access
      2 Scopus citations

    • Brain ventricles as windows into brain development and disease

      Duy, P. Q., Rakic, P., Alper, S. L., Butler, W. E., Walsh, C. A., Sestan, N., Geschwind, D. H., Jin, S. C. & Kahle, K. T., Jan 5 2022, In: Neuron. 110, 1, p. 12-15 4 p.

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

      Open Access
      33 Scopus citations

    • Computational Genomics in the Era of Precision Medicine: Applications to Variant Analysis and Gene Therapy

      Wang, Y. C., Wu, Y., Choi, J., Allington, G., Zhao, S., Khanfar, M., Yang, K., Fu, P. Y., Wrubel, M., Yu, X., Mekbib, K. Y., Ocken, J., Smith, H., Shohfi, J., Kahle, K. T., Lu, Q. & Jin, S. C., Feb 2022, In: Journal of Personalized Medicine. 12, 2, 175.

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

      Open Access
      11 Scopus citations

    • Genomic approaches to improve the clinical diagnosis and management of patients with congenital hydrocephalus

      Allington, G., Duy, P. Q., Ryou, J., Singh, A., Kiziltug, E., Robert, S. M., Kundishora, A. J., King, S., Haider, S., Kahle, K. T. & Chih Jin, S., Feb 2022, In: Journal of Neurosurgery: Pediatrics. 29, 2, p. 168-177 10 p.

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

      Open Access
      7 Scopus citations

    • Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus

      Duy, P. Q., Weise, S. C., Marini, C., Li, X. J., Liang, D., Dahl, P. J., Ma, S., Spajic, A., Dong, W., Juusola, J., Kiziltug, E., Kundishora, A. J., Koundal, S., Pedram, M. Z., Torres-Fernández, L. A., Händler, K., De Domenico, E., Becker, M., Ulas, T. & Juranek, S. A. & 47 others, Cuevas, E., Hao, L. T., Jux, B., Sousa, A. M. M., Liu, F., Kim, S. K., Li, M., Yang, Y., Takeo, Y., Duque, A., Nelson-Williams, C., Ha, Y., Selvaganesan, K., Robert, S. M., Singh, A. K., Allington, G., Furey, C. G., Timberlake, A. T., Reeves, B. C., Smith, H., Dunbar, A., DeSpenza, T., Goto, J., Marlier, A., Moreno-De-Luca, A., Yu, X., Butler, W. E., Carter, B. S., Lake, E. M. R., Constable, R. T., Rakic, P., Lin, H., Deniz, E., Benveniste, H., Malvankar, N. S., Estrada-Veras, J. I., Walsh, C. A., Alper, S. L., Schultze, J. L., Paeschke, K., Doetzlhofer, A., Wulczyn, F. G., Jin, S. C., Lifton, R. P., Sestan, N., Kolanus, W. & Kahle, K. T., Apr 2022, In: Nature neuroscience. 25, 4, p. 458-473 16 p.

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

      Open Access
      51 Scopus citations

    • Mutation spectrum of congenital heart disease in a consanguineous Turkish population

      Dong, W., Kaymakcalan, H., Jin, S. C., Diab, N. S., Tanıdır, C., Yalcin, A. S. Y., Ercan-Sencicek, A. G., Mane, S., Gunel, M., Lifton, R. P., Bilguvar, K. & Brueckner, M., Jun 2022, In: Molecular Genetics and Genomic Medicine. 10, 6, e1944.

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

      Open Access
      3 Scopus citations

    • Network assisted analysis of De novo variants using protein-protein interaction information identified 46 candidate genes for congenital heart disease

      Xie, Y., Jiang, W., Dong, W., Li, H., Jin, S. C., Brueckner, M. & Zhao, H., Jun 7 2022, In: PLoS genetics. 18, 6, e1010252.

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

      Open Access
      3 Scopus citations

    • Quantifying concordant genetic effects of de novo mutations on multiple disorders

      Guo, H., Hou, L., Shi, Y., Jin, S. C., Zeng, X., Li, B., Lifton, R. P., Brueckner, M., Zhao, H. & Lu, Q., Jun 2022, In: eLife. 11, e75551.

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

      Open Access
      4 Scopus citations

    • Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors

      Tang, C. S. M., Mononen, M., Lam, W. Y., Jin, S. C., Zhuang, X., Garcia-Barcelo, M. M., Lin, Q., Yang, Y., Sahara, M., Eroglu, E., Chien, K. R., Hong, H., Tam, P. K. H. & Gruber, P. J., Jan 25 2022, In: JCI Insight. 7, 2, e152198.

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

      Open Access
      8 Scopus citations

    • The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature

      Fazeli, W., Bamborschke, D., Moawia, A., Bakhtiari, S., Tafakhori, A., Giersdorf, M., Hahn, A., Weik, A., Kolzter, K., Shafiee, S., Jin, S. C., Körber, F., Lee-Kirsch, M. A., Darvish, H., Cirak, S., Kruer, M. C. & Koy, A., Jan 2022, In: European Journal of Paediatric Neurology. 36, p. 7-13 7 p.

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

      Open Access
      7 Scopus citations

    • Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes

      Zech, M., Kopajtich, R., Steinbrücker, K., Bris, C., Gueguen, N., Feichtinger, R. G., Achleitner, M. T., Duzkale, N., Périvier, M., Koch, J., Engelhardt, H., Freisinger, P., Wagner, M., Brunet, T., Berutti, R., Smirnov, D., Navaratnarajah, T., Rodenburg, R. J. T., Pais, L. S. & Austin-Tse, C. & 14 others, O'Leary, M., Boesch, S., Jech, R., Bakhtiari, S., Jin, S. C., Wilbert, F., Kruer, M. C., Wortmann, S. B., Eckenweiler, M., Mayr, J. A., Distelmaier, F., Steinfeld, R., Winkelmann, J. & Prokisch, H., Feb 2022, In: Annals of neurology. 91, 2, p. 225-237 13 p.

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

      Open Access
      23 Scopus citations

    • Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia

      Dong, W., Wong, K. H. Y., Liu, Y., Levy-Sakin, M., Hung, W. C., Li, M., Li, B., Jin, S. C., Choi, J., Lopez-Giraldez, F., Vaka, D., Poon, A., Chu, C., Lao, R., Balamir, M., Movsesyan, I., Malloy, M. J., Zhao, H., Kwok, P. Y. & Kane, J. P. & 2 others, Lifton, R. P. & Pullinger, C. R., Jun 2022, In: Journal of lipid research. 63, 6, 100209.

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

      Open Access
      2 Scopus citations
    • 2021

      ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

      Alsharhan, H., He, M., Edmondson, A. C., Daniel, E. J. P., Chen, J., Donald, T., Bakhtiari, S., Amor, D. J., Jones, E. A., Vassallo, G., Vincent, M., Cogné, B., Deb, W., Werners, A. H., Jin, S. C., Bilguvar, K., Christodoulou, J., Webster, R. I., Yearwood, K. R. & Ng, B. G. & 6 others, Freeze, H. H., Kruer, M. C., Li, D., Raymond, K. M., Bhoj, E. J. & Sobering, A. K., Jul 2021, In: Journal of Inherited Metabolic Disease. 44, 4, p. 1001-1012 12 p.

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

      Open Access
      13 Scopus citations

    • Analysis workflow to assess de novo genetic variants from human whole-exome sequencing

      Diab, N. S., King, S., Dong, W., Allington, G., Sheth, A., Peters, S. T., Kahle, K. T. & Jin, S. C., Mar 19 2021, In: STAR Protocols. 2, 1, p. 100383 1 p.

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

      Open Access
      6 Scopus citations

    • Association of Damaging Variants in Genes with Increased Cancer Risk among Patients with Congenital Heart Disease

      Seidman, C. E., Morton, S. U., Shimamura, A., Newburger, P. E., Opotowsky, A. R., Quiat, D., Pereira, A. C., Jin, S. C., Gurvitz, M., Brueckner, M., Chung, W. K., Shen, Y., Bernstein, D., Gelb, B. D., Giardini, A., Goldmuntz, E., Kim, R. W., Lifton, R. P., Porter, G. A. & Srivastava, D. & 3 others, Tristani-Firouzi, M., Newburger, J. W. & Seidman, J. G., Apr 2021, In: JAMA Cardiology. 6, 4, p. 457-462 6 p.

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

      Open Access
      34 Scopus citations

    • 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 others, Berry, 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

      Open Access
      2 Scopus citations

    • Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy

      Calame, D. G., Bakhtiari, S., Logan, R., Coban-Akdemir, Z., Du, H., Mitani, T., Fatih, J. M., Hunter, J. V., Herman, I., Pehlivan, D., Jhangiani, S. N., Person, R., Schnur, R. E., Jin, S. C., Bilguvar, K., Posey, J. E., Koh, S., Firouzabadi, S. G., Alehabib, E. & Tafakhori, A. & 8 others, Esmkhani, S., Gibbs, R. A., Noureldeen, M. M., Zaki, M. S., Marafi, D., Darvish, H., Kruer, M. C. & Lupski, J. R., Dec 2021, In: Genetics in Medicine. 23, 12, p. 2455-2460 6 p.

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

      Open Access
      9 Scopus citations

    • Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

      Genomics England Research Consortium, PREPARE network, May 1 2021, In: Brain. 144, 5, p. 1422-1434 13 p.

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

      Open Access
      31 Scopus citations

    • 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 others, Rodan, 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
      13 Scopus citations

    • DIAPH1 Variants in Non-East Asian Patients with Sporadic Moyamoya Disease

      Kundishora, A. J., Peters, S. T., Pinard, A., Duran, D., Panchagnula, S., Barak, T., Miyagishima, D. F., Dong, W., Smith, H., Ocken, J., Dunbar, A., Nelson-Williams, C., Haider, S., Walker, R. L., Li, B., Zhao, H., Thumkeo, D., Marlier, A., Duy, P. Q. & Diab, N. S. & 28 others, Reeves, B. C., Robert, S. M., Sujijantarat, N., Stratman, A. N., Chen, Y. H., Zhao, S., Roszko, I., Lu, Q., Zhang, B., Mane, S., Castaldi, C., López-Giráldez, F., Knight, J. R., Bamshad, M. J., Nickerson, D. A., Geschwind, D. H., Chen, S. S. L., Storm, P. B., Diluna, M. L., Matouk, C. C., Orbach, D. B., Alper, S. L., Smith, E. R., Lifton, R. P., Gunel, M., Milewicz, D. M., Jin, S. C. & Kahle, K. T., Aug 2021, In: JAMA Neurology. 78, 8, p. 993-1003 11 p.

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

      Open Access
      39 Scopus citations

    • Erratum: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia (Brain (2021) 144:5 (1422-1434) DOI: 10.1093/brain/awab041)

      Wiessner, M., Maroofian, R., Ni, M. Y., Pedroni, A., Müller, J. S., Stucka, R., Beetz, C., Efthymiou, S., Santorelli, F. M., Alfares, A. A., Zhu, C., Uhrova Meszarosova, A., Alehabib, E., Bakhtiari, S., Janecke, A. R., Otero, M. G., Chen, J. Y. H., Peterson, J. T., Strom, T. M. & De Jonghe, P. & 86 others, Deconinck, T., De Ridder, W., De Winter, J., Pasquariello, R., Ricca, I., Alfadhel, M., Van De Warrenburg, B. P., Portier, R., Bergmann, C., Ghasemi Firouzabadi, S., Jin, S. C., Bilguvar, K., Hamed, S., Abdelhameed, M., Haridy, N. A., Maqbool, S., Rahman, F., Anwar, N., Carmichael, J., Pagnamenta, A. T., Wood, N. W., Tran Mau-Them, F., Haack, T., Di Rocco, M., Ceccherini, I., Iacomino, M., Zara, F., Salpietro, V., Scala, M., Rusmini, M., Xu, Y., Wang, Y., Suzuki, Y., Koh, K., Nan, H., Ishiura, H., Tsuji, S., Lambert, L., Schmitt, E., Lacaze, E., Küpper, H., Dredge, D., Skraban, C., Goldstein, A., Willis, M. J. H., Grand, K., Graham, J. M., Lewis, R. A., Millan, F., Duman, Ö., Olgac Dundar, N., Uyanik, G., Schöls, L., Nürnberg, P., Nürnberg, G., Català-Bordes, A., Seeman, P., Kuchar, M., Darvish, H., Rebelo, A., Bouçanova, F., Medard, J. J., Chrast, R., Auer-Grumbach, M., Alkuraya, F. S., Shamseldin, H., Al Tala, S., Rezazadeh Varaghchi, J., Najafi, M., Deschner, S., Gläser, D., Hüttel, W., Kruer, M. C., Kamsteeg, E. J., Takiyama, Y., Züchner, S., Baets, J., Synofzik, M., Schüle, R., Horvath, R., Houlden, H., Bartesaghi, L., Lee, H. J., Ampatzis, K., Pierson, T. M. & Senderek, J., Aug 1 2021, In: Brain. 144, 8, p. E70

      Research output: Contribution to journal › Comment/debate

      Open Access
      2 Scopus citations

    • Exome Sequencing as a Potential Diagnostic Adjunct in Sporadic Congenital Hydrocephalus

      Sullivan, W., Reeves, B. C., Duy, P. Q., Nelson-Williams, C., Dong, W., Jin, S. C. & Kahle, K. T., Mar 2021, In: JAMA Pediatrics. 175, 3, p. 310-313 4 p.

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

      Open Access
      11 Scopus citations

    • Genomics of human congenital hydrocephalus

      Kundishora, A. J., Singh, A. K., Allington, G., Duy, P. Q., Ryou, J., Alper, S. L., Jin, S. C. & Kahle, K. T., Nov 2021, In: Child's Nervous System. 37, 11, p. 3325-3340 16 p.

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

      18 Scopus citations

    • Insights From Genetic Studies of Cerebral Palsy

      Lewis, S. A., Shetty, S., Wilson, B. A., Huang, A. J., Jin, S. C., Smithers-Sheedy, H., Fahey, M. C. & Kruer, M. C., Jan 21 2021, In: Frontiers in Neurology. 11, 625428.

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

      Open Access
      25 Scopus citations

    • Integrative modeling of transmitted and de novo variants identifies novel risk genes for congenital heart disease

      Li, M., Zeng, X., Jin, C., Jin, S. C., Dong, W., Brueckner, M., Lifton, R., Lu, Q. & Zhao, H., 2021, In: Quantitative Biology. 9, 2, p. 216-227 12 p.

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

      Open Access
      3 Scopus citations

    • Molecular genetics and complex inheritance of congenital heart disease

      Diab, N. S., Barish, S., Dong, W., Zhao, S., Allington, G., Yu, X., Kahle, K. T., Brueckner, M. & Jin, S. C., Jul 2021, In: Genes. 12, 7, 1020.

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

      Open Access
      65 Scopus citations

    • Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability

      Lewis, S. A., Bakhtiari, S., Heim, J., Cornejo, P., Liu, J., Huang, A., Musmacker, A., Jin, S. C., Bilguvar, K., Padilla-Lopez, S. R. & Kruer, M. C., Aug 29 2021, In: Neurology: Genetics. 7, 4, e602.

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

      Open Access
      6 Scopus citations

    • PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans

      Barak, T., Ristori, E., Ercan-Sencicek, A. G., Miyagishima, D. F., Nelson-Williams, C., Dong, W., Jin, S. C., Prendergast, A., Armero, W., Henegariu, O., Erson-Omay, E. Z., Harmancı, A. S., Guy, M., Gültekin, B., Kilic, D., Rai, D. K., Goc, N., Aguilera, S. M., Gülez, B. & Altinok, S. & 20 others, Ozcan, K., Yarman, Y., Coskun, S., Sempou, E., Deniz, E., Hintzen, J., Cox, A., Fomchenko, E., Jung, S. W., Ozturk, A. K., Louvi, A., Bilgüvar, K., Connolly, E. S., Khokha, M. K., Kahle, K. T., Yasuno, K., Lifton, R. P., Mishra-Gorur, K., Nicoli, S. & Günel, M., Dec 2021, In: Nature medicine. 27, 12, p. 2165-2175 11 p.

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

      22 Scopus citations

    • Protein kinase D1 variant associated with human epilepsy and peripheral nerve hypermyelination

      Omer, S., Jin, S. C., Koumangoye, R., Robert, S. M., Duran, D., Nelson-Williams, C., Huttner, A., DiLuna, M., Kahle, K. T. & Delpire, E., Aug 2021, In: Clinical Genetics. 100, 2, p. 176-186 11 p.

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

      4 Scopus citations

    • PTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets

      DeSpenza, T., Carlson, M., Panchagnula, S., Robert, S., Duy, P. Q., Mermin-Bunnell, N., Reeves, B. C., Kundishora, A., Elsamadicy, A. A., Smith, H., Ocken, J., Alper, S. L., Jin, S. C., Hoffman, E. J. & Kahle, K. T., Dec 2021, In: Trends in Neurosciences. 44, 12, p. 961-976 16 p.

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

      Open Access
      22 Scopus citations

    • Recessive COL4A2 Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy

      Bakhtiari, S., Tafakhori, A., Jin, S. C., Guida, B. S., Alehabib, E., Firouzbadi, S., Bilguvar, K., Fahey, M. C., Darvish, H. & Kruer, M. C., Jun 22 2021, In: Neurology: Genetics. 7, 3, p. e583

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

      Open Access
      3 Scopus citations

    • Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome

      Dzinovic, I., Škorvánek, M., Pavelekova, P., Zhao, C., Keren, B., Whalen, S., Bakhtiari, S., Chih Jin, S., Kruer, M. C., Jech, R., Winkelmann, J. & Zech, M., Apr 2021, In: Annals of Clinical and Translational Neurology. 8, 4, p. 951-955 5 p.

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

      Open Access
      6 Scopus citations