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  • 2024

    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 othersThauvin-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 journalArticlepeer-review

    1 Scopus citations
  • 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 journalArticlepeer-review

    Open Access
    12 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 journalArticlepeer-review

    10 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 journalArticlepeer-review

    Open Access
    3 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 othersPalculict, 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 journalArticlepeer-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 journalArticlepeer-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 journalArticlepeer-review

    Open Access
    1 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 othersTikhonova, 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 journalArticlepeer-review

    3 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 othersRolle, 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 journalArticlepeer-review

    Open Access
    2 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 othersYarman, 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 journalArticlepeer-review

    Open Access
    1 Scopus citations
  • Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease

    University of Washington Center for Mendelian Genomics, Sep 1 2023, In: Brain. 146, 9, p. 3616-3623 8 p.

    Research output: Contribution to journalArticlepeer-review

    4 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 othersClot, 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 journalArticlepeer-review

    Open Access
    14 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 othersPrus, 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 journalArticlepeer-review

    Open Access
    1 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 journalArticlepeer-review

    Open Access
    22 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 othersCuevas, 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 journalArticlepeer-review

    Open Access
    39 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 journalArticlepeer-review

    Open Access
    2 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 journalArticlepeer-review

    Open Access
    1 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 journalArticlepeer-review

    Open Access
    3 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 journalArticlepeer-review

    Open Access
    7 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 journalArticlepeer-review

    Open Access
    3 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 othersO'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 journalArticlepeer-review

    Open Access
    14 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 othersLifton, R. P. & Pullinger, C. R., Jun 2022, In: Journal of lipid research. 63, 6, 100209.

    Research output: Contribution to journalArticlepeer-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 othersFreeze, 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 journalArticlepeer-review

    Open Access
    8 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 journalArticlepeer-review

    Open Access
    5 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 othersTristani-Firouzi, M., Newburger, J. W. & Seidman, J. G., Apr 2021, In: JAMA Cardiology. 6, 4, p. 457-462 6 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    26 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 othersEsmkhani, 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 journalArticlepeer-review

    Open Access
    7 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 journalArticlepeer-review

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

    Research output: Contribution to journalArticlepeer-review

    Open Access
    7 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 othersReeves, 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 journalArticlepeer-review

    Open Access
    33 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 journalArticlepeer-review

    12 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 journalArticlepeer-review

    Open Access
    3 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 journalArticlepeer-review

    Open Access
    7 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 othersOzcan, 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 journalArticlepeer-review

    15 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 journalArticlepeer-review

    1 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, e583.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    2 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 journalArticlepeer-review

    Open Access
    5 Scopus citations
  • 2020

    Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

    Jin, S. C., Dong, W., Kundishora, A. J., Panchagnula, S., Moreno-De-Luca, A., Furey, C. G., Allocco, A. A., Walker, R. L., Nelson-Williams, C., Smith, H., Dunbar, A., Conine, S., Lu, Q., Zeng, X., Sierant, M. C., Knight, J. R., Sullivan, W., Duy, P. Q., DeSpenza, T., Reeves, B. C., & 41 othersKarimy, J. K., Marlier, A., Castaldi, C., Tikhonova, I. R., Li, B., Peña, H. P., Broach, J. R., Kabachelor, E. M., Ssenyonga, P., Hehnly, C., Ge, L., Keren, B., Timberlake, A. T., Goto, J., Mangano, F. T., Johnston, J. M., Butler, W. E., Warf, B. C., Smith, E. R., Schiff, S. J., Limbrick, D. D., Heuer, G., Jackson, E. M., Iskandar, B. J., Mane, S., Haider, S., Guclu, B., Bayri, Y., Sahin, Y., Duncan, C. C., Apuzzo, M. L. J., DiLuna, M. L., Hoffman, E. J., Sestan, N., Ment, L. R., Alper, S. L., Bilguvar, K., Geschwind, D. H., Günel, M., Lifton, R. P. & Kahle, K. T., Nov 2020, In: Nature medicine. 26, 11, p. 1754-1765 12 p.

    Research output: Contribution to journalArticlepeer-review

    71 Scopus citations
  • Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia

    Dong, W., Jin, S. C., Allocco, A., Zeng, X., Sheth, A. H., Panchagnula, S., Castonguay, A., Lorenzo, L. É., Islam, B., Brindle, G., Bachand, K., Hu, J., Sularz, A., Gaillard, J., Choi, J., Dunbar, A., Nelson-Williams, C., Kiziltug, E., Furey, C. G., Conine, S., & 29 othersDuy, P. Q., Kundishora, A. J., Loring, E., Li, B., Lu, Q., Zhou, G., Liu, W., Li, X., Sierant, M. C., Mane, S., Castaldi, C., López-Giráldez, F., Knight, J. R., Sekula, R. F., Simard, J. M., Eskandar, E. N., Gottschalk, C., Moliterno, J., Günel, M., Gerrard, J. L., Dib-Hajj, S., Waxman, S. G., Barker, F. G., Alper, S. L., Chahine, M., Haider, S., De Koninck, Y., Lifton, R. P. & Kahle, K. T., Oct 23 2020, In: iScience. 23, 10, 101552.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    23 Scopus citations
  • Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

    Wagner, M., Lévy, J., Jung-Klawitter, S., Bakhtiari, S., Monteiro, F., Maroofian, R., Bierhals, T., Hempel, M., Elmaleh-Bergès, M., Kitajima, J. P., Kim, C. A., Salomao, J. G., Amor, D. J., Cooper, M. S., Perrin, L., Pipiras, E., Neu, A., Doosti, M., Karimiani, E. G., Toosi, M. B., & 12 othersHoulden, H., Jin, S. C., Si, Y. C., Rodan, L. H., Venselaar, H., Kruer, M. C., Kok, F., Hoffmann, G. F., Strom, T. M., Wortmann, S. B., Tabet, A. C. & Opladen, T., Jun 1 2020, In: Genetics in Medicine. 22, 6, p. 1061-1068 8 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    13 Scopus citations
  • Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

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

    Research output: Contribution to journalArticlepeer-review

    92 Scopus citations
  • 2019

    Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility

    Robson, A., Makova, S. Z., Barish, S., Zaidi, S., Mehta, S., Drozd, J., Jin, S. C., Gelb, B. D., Seidman, C. E., Chung, W. K., Lifton, R. P., Khokha, M. K. & Brueckner, M., 2019, In: Proceedings of the National Academy of Sciences of the United States of America. 116, 28, p. 14049-14054 6 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    23 Scopus citations
  • Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation

    Duran, D., Zeng, X., Jin, S. C., Choi, J., Nelson-Williams, C., Yatsula, B., Gaillard, J., Furey, C. G., Lu, Q., Timberlake, A. T., Dong, W., Sorscher, M. A., Loring, E., Klein, J., Allocco, A., Hunt, A., Conine, S., Karimy, J. K., Youngblood, M. W., Zhang, J., & 27 othersDiLuna, M. L., Matouk, C. C., Mane, S., Tikhonova, I. R., Castaldi, C., López-Giráldez, F., Knight, J., Haider, S., Soban, M., Alper, S. L., Komiyama, M., Ducruet, A. F., Zabramski, J. M., Dardik, A., Walcott, B. P., Stapleton, C. J., Aagaard-Kienitz, B., Rodesch, G., Jackson, E., Smith, E. R., Orbach, D. B., Berenstein, A., Bilguvar, K., Vikkula, M., Gunel, M., Lifton, R. P. & Kahle, K. T., Feb 6 2019, In: Neuron. 101, 3, p. 429-443.e4

    Research output: Contribution to journalArticlepeer-review

    Open Access
    50 Scopus citations
  • Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis

    Timberlake, A. T., Jin, S. C., Nelson-Williams, C., Wu, R., Furey, C. G., Islam, B., Haider, S., Loring, E., Steinbacher, D. M., Larysz, D., Staffenberg, D. A., Flores, R. L., Rodriguez, E. D., Boggon, T. J., Persing, J. A., Lifton, R. P. & Galm, A., Jul 23 2019, In: Proceedings of the National Academy of Sciences of the United States of America. 116, 30, p. 15116-15121 6 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    24 Scopus citations
  • Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3

    Allocco, A. A., Jin, S. C., Duy, P. Q., Furey, C. G., Zeng, X., Dong, W., Nelson-Williams, C., Karimy, J. K., DeSpenza, T., Hao, L. T., Reeves, B., Haider, S., Gunel, M., Lifton, R. P. & Kahle, K. T., Sep 26 2019, In: Frontiers in Cellular Neuroscience. 13, 425.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    14 Scopus citations
  • SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus

    Jin, S. C., Furey, C. G., Zeng, X., Allocco, A., Nelson-Williams, C., Dong, W., Karimy, J. K., Wang, K., Ma, S., Delpire, E. & Kahle, K. T., Sep 1 2019, In: Molecular Genetics and Genomic Medicine. 7, 9, e892.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    18 Scopus citations
  • Unique features in the intracellular transport of typhoid toxin revealed by a genome-wide screen

    Chang, S. J., Jin, S. C., Jiao, X. & Galan, J. E., 2019, In: PLoS pathogens. 15, 4, e1007704.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    29 Scopus citations
  • 2018

    A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9

    Antwi, P., Hong, C. S., Duran, D., Jin, S. C., Dong, W., Diluna, M. & Kahle, K. T., Jun 2018, In: Cold Spring Harbor molecular case studies. 4, 3, a002766.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    5 Scopus citations
  • CLCN2 chloride channel mutations in familial hyperaldosteronism type II

    Scholl, U. I., Stölting, G., Schewe, J., Thiel, A., Tan, H., Nelson-Williams, C., Vichot, A. A., Jin, S. C., Loring, E., Untiet, V., Yoo, T., Choi, J., Xu, S., Wu, A., Kirchner, M., Mertins, P., Rump, L. C., Onder, A. M., Gamble, C., McKenney, D., & 9 othersLash, R. W., Jones, D. P., Chune, G., Gagliardi, P., Choi, M., Gordon, R., Stowasser, M., Fahlke, C. & Lifton, R. P., Mar 1 2018, In: Nature Genetics. 50, 3, p. 349-354 6 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    176 Scopus citations
  • De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus

    Furey, C. G., Choi, J., Jin, S. C., Zeng, X., Timberlake, A. T., Nelson-Williams, C., Mansuri, M. S., Lu, Q., Duran, D., Panchagnula, S., Allocco, A., Karimy, J. K., Khanna, A., Gaillard, J. R., DeSpenza, T., Antwi, P., Loring, E., Butler, W. E., Smith, E. R., Warf, B. C., & 25 othersStrahle, J. M., Limbrick, D. D., Storm, P. B., Heuer, G., Jackson, E. M., Iskandar, B. J., Johnston, J. M., Tikhonova, I., Castaldi, C., López-Giráldez, F., Bjornson, R. D., Knight, J. R., Bilguvar, K., Mane, S., Alper, S. L., Haider, S., Guclu, B., Bayri, Y., Sahin, Y., Apuzzo, M. L. J., Duncan, C. C., DiLuna, M. L., Günel, M., Lifton, R. P. & Kahle, K. T., Jul 25 2018, In: Neuron. 99, 2, p. 302-314.e4

    Research output: Contribution to journalArticlepeer-review

    Open Access
    96 Scopus citations
  • De novo MYH9 mutation in congenital scalp hemangioma

    Fomchenko, E. I., Duran, D., Jin, S. C., Dong, W., Erson-Omay, E. Z., Antwi, P., Allocco, A., Gaillard, J. R., Huttner, A., Gunel, M., Diluna, M. L. & Kahle, K. T., Aug 2018, In: Cold Spring Harbor molecular case studies. 4, 4, a002998.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    9 Scopus citations