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• Bidirectional activity-dependent regulation of neuronal ion channel phosphorylation

  Misonou, H., Menegola, M., Mohapatra, D. P., Guy, L. K., Park, K. S. & Trimmer, J. S., Dec 27 2006, In: Journal of Neuroscience. 26, 52, p. 13505-13514 10 p.

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

  Open Access
  83 Scopus citations

• BID, BIM, and PUMA are essential for activation of the BAX- and BAK-dependent cell death program

  Ren, D., Tu, H. C., Kim, H., Wang, G. X., Bean, G. R., Takeuchi, O., Jeffers, J. R., Zambetti, G. P., Hsieh, J. J. D. & Cheng, E. H. Y., Dec 3 2010, In: Science. 330, 6009, p. 1390-1393 4 p.

  Research output: Contribution to journal › Article › peer-review
  362 Scopus citations

• Bicyclobutonium ion versus cyclopropylcarbinyl cation chemistry: The cycloaddition reaction with ethene in the dilute gas phase

  Holman, R. W., Plocica, J., Blair, L., Giblin, D. & Gross, M. L., Jan 2001, In: Journal of Physical Organic Chemistry. 14, 1, p. 17-24 8 p.

  Research output: Contribution to journal › Article › peer-review
  18 Scopus citations

• Bicycling and walking for transportation in three Brazilian cities

  Reis, R. S., Hino, A. A. F., Parra, D. C., Hallal, P. C. & Brownson, R. C., Feb 2013, In: American Journal of Preventive Medicine. 44, 2, p. e9-e17

  Research output: Contribution to journal › Article › peer-review
  52 Scopus citations

• Bicyclic azetidines target acute and chronic stages of Toxoplasma gondii by inhibiting parasite phenylalanyl t-RNA synthetase

  Radke, J. B., Melillo, B., Mittal, P., Sharma, M., Sharma, A., Fu, Y., Uddin, T., Gonse, A., Comer, E., Schreiber, S. L., Gupta, A. K., Chatterjee, A. K. & Sibley, L. D., Dec 2022, In: Nature communications. 13, 1, 459.

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

  Open Access
  1 Scopus citations

• Bicuspid aortic valves and thoracic aortic aneurysms in patients with intracranial aneurysms

  Goyal, M. S., Gottumukkala, R., Bhalla, S., Kates, A., Zipfel, G. J. & Derdeyn, C. P., 2015, In: Neurology. 84, 1, p. 46-49 4 p.

  Research output: Contribution to journal › Article › peer-review
  12 Scopus citations

• Bicuspid Aortic Valve in Marfan Syndrome: The Root of the Problem

  Braverman, A. C. & Roman, M. J., Mar 1 2019, In: Circulation: Cardiovascular Imaging. 12, 3, e008860.

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

  Open Access
  10 Scopus citations

• Bicuspid aortic valve disease and associated ascending aortic aneurysm: Composite root replacement or separate valve and graft replacement?

  Mora, B. N., Sundt, T. M., Ferrett, R., Mendeloff, E. N., Huddleston, C. B., Pasque, M. K., Schuessler, R. B., Barner, H. & Gay, W. A., Oct 1 1998, In: CHEST. 114, 4 SUPPL., p. 263S

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

  1 Scopus citations

• Bicuspid aortic valve and associated aortic wall abnormalities

  Braverman, A. C., Jan 1 1996, In: Current Opinion in Cardiology. 11, 5, p. 501-503 3 p.

  Research output: Contribution to journal › Editorial
  37 Scopus citations

• Bicuculline-induced alterations in neuronal responses to controlled tactile stimuli in the second somatosensory cortex of the cat: A microiontophoretic study

  Alloway, K. D. & Burton, H., 1985, In: Somatosensory Research. 3, 3, p. 197-211 15 p.

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

  21 Scopus citations

• Bicuculline and gabazine are allosteric inhibitors of channel opening of the GABA(A) receptor

  Ueno, S., Bracamontes, J., Zorumski, C., Weiss, D. S. & Steinbach, J. H., 1997, In: Journal of Neuroscience. 17, 2, p. 625-634 10 p.

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

  Open Access
  208 Scopus citations

• Bictegravir-Based Antiretroviral Therapy-Associated Accelerated Hyperglycemia and Diabetes Mellitus

  Nolan, N. S., Adamson, S., Reeds, D. & O'Halloran, J. A., May 1 2021, In: Open Forum Infectious Diseases. 8, 5, ofab077.

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

  Open Access
  7 Scopus citations

• Bicondylar Tibial Plateau Fractures: What Predicts Infection?

  Olszewski, N., Manzano, G., Wilson, E., Joseph, N., Vallier, H., Pawlak, A., Kottmeier, S., Miller, A., Gary, J., Namm, J., Miller, A., Gupte, G., Rodriguez-Buitrago, A., Obremskey, W., Willier, D., Marcantonio, A., Phieffer, L., Sheridan, E., Li, K., Karunakar, M., & 20 othersVargas-Hernandez, J., Yuan, B., Shapiro, J., Pratson, L., Friess, D., Jenkins, D., Leighton, R., Alqudhaya, R., Aljilani, W., Mullis, B., Gruenwald, K., Ollivere, B., Myint, Y., Odom, C., Spitler, C., Suwak, P., Shah, S., Rocha, D., Horwitz, D. & Tornetta, P., Oct 15 2022, In: Journal of the American Academy of Orthopaedic Surgeons. 30, 20, p. E1311-E1318

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

• Biceps tenodesis is a viable option for salvage of failed SLAP repair

  Werner, B. C., Pehlivan, H. C., Hart, J. M., Lyons, M. L., Gilmore, C. J., Garrett, C. B., Carson, E. W., Diduch, D. R., Miller, M. D. & Brockmeier, S. F., Aug 2014, In: Journal of Shoulder and Elbow Surgery. 23, 8, p. e179-e184

  Research output: Contribution to journal › Article › peer-review
  42 Scopus citations

• Biceps Tenodesis in Patients Age 35 Years and Younger Yields Favorable Clinical Outcomes With Variable Rates of Return to Sport and Complications: A Systematic Review

  Jackson, G. R., Tuthill, T., Allahabadi, S., Brusalis, C. M., Kaplan, D. J., Rea, P., Sugrañes, J., Obioha, O., Knapik, D. M., Chahla, J. & Verma, N. N., 2022, (Accepted/In press) In: Arthroscopy - Journal of Arthroscopic and Related Surgery.

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

• Biceps tenodesis: How low do you go? A comparison of location between arthroscopic suprapectoral and open subpectoral techniques

  Werner, B. C., Miller, M. D., Lyons, M. L., Carson, E. W., Evans, C. L., Diduch, D. R. & Brockmeier, S. F., Sep 2013, In: Orthopaedic Journal of Sports Medicine. 1, 4

  Research output: Contribution to journal › Comment/debate

  Open Access
  1 Scopus citations

• Biceps activity during shoulder motion: An electromyographic analysis

  Yamaguchi, K., Riew, K. D., Galatz, L. M., Syme, J. A. & Neviaser, R. J., 1997, In: Clinical orthopaedics and related research. 336, p. 122-129 8 p.

  Research output: Contribution to journal › Article › peer-review
  153 Scopus citations

• Bi-caval dual lumen venovenous extracorporeal membrane oxygenation and high-frequency percussive ventilatory support for postintubation tracheal injury and acute respiratory distress syndrome

  Fitzgerald, J. C., Topjian, A. A., McInnes, A. D., Mattei, P., McCloskey, J. J., Friess, S. H. & Kilbaugh, T. J., Dec 1 2011, In: Journal of Pediatric Surgery. 46, 12, p. E11-E15

  Research output: Contribution to journal › Article › peer-review
  8 Scopus citations

• Bicaudate infarcts in the setting of congenital absence of A1 segment

  Tahsili-Fahadan, P., Yahyavi-Firouz-Abadi, N., Keyrouz, S. G. & Pestronk, A., Dec 1 2015, In: Neurology: Clinical Practice. 5, 6, p. 540-541 2 p.

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

• Bicarbonate-buffered Lidocaine-epinephirine-hyaluronidase for Eyelid Anesthesia

  Eccarius, S. G., Gordon, M. E. & Parelman, J. J., 1990, In: Ophthalmology. 97, 11, p. 1499-1501 3 p.

  Research output: Contribution to journal › Article › peer-review
  32 Scopus citations

• Bibliometric profiles of contemporary leaders in neurosurgery

  Donohue, J., Kashkoush, A., Alan, N. & Agarwal, N., Jun 2021, In: Interdisciplinary Neurosurgery: Advanced Techniques and Case Management. 24, 101087.

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

  Open Access

• Biaxial strain effects on cells from the inner and outer regions of the meniscus

  Upton, M. L., Hennerbichler, A., Fermor, B., Guilak, F., Weinberg, J. B. & Setton, L. A., Jul 2006, In: Connective Tissue Research. 47, 4, p. 207-214 8 p.

  Research output: Contribution to journal › Article › peer-review
  31 Scopus citations

• Biatrial lesion sets

  Damiano, R. J. & Voeller, R. K., Dec 2007, In: Journal of Interventional Cardiac Electrophysiology. 20, 3, p. 95-99 5 p.

  Research output: Contribution to journal › Article › peer-review
  18 Scopus citations

• Biatrial isolation –A New Surgical Treatment for Supraventricular Tachycardia

  Harada, A., D'Agostino, H. J., Schuessler, R. B., Boineau, J. P., Cox, J. L. & Harada, A., 1990, In: JAPANESE CIRCULATION JOURNAL. 54, 1, p. 100-108 9 p.

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

  Open Access
  1 Scopus citations

• Bias-scalable inner-product approximation circuit using analog margin propagation

  Gu, M. & Chakrabartty, S., 2013, 2013 IEEE 56th International Midwest Symposium on Circuits and Systems, MWSCAS 2013. p. 525-528 4 p. 6674701. (Midwest Symposium on Circuits and Systems).

  Research output: Chapter in Book/Report/Conference proceeding › Conference contribution › peer-review

• Bias reduction in correlation of radiation-absorbed dose with response [1]

  Koral, K. F., Zasadny, K. & Wahl, R. L., Jul 1 2004, In: Journal of Nuclear Medicine. 45, 7, 1 p.

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

• Bias in estimating the causal hazard ratio when using two-stage instrumental variable methods

  Wan, F., Small, D., Bekelman, J. E. & Mitra, N., Jun 30 2015, In: Statistics in medicine. 34, 14, p. 2235-2265 31 p.

  Research output: Contribution to journal › Article › peer-review
  18 Scopus citations

• Bias in breast cancer analyses due to error in age at menopause

  Rockhill, B., Colditz, G. A. & Rosner, B., Feb 15 2000, In: American journal of epidemiology. 151, 4, p. 404-408 5 p.

  Research output: Contribution to journal › Article › peer-review
  49 Scopus citations

• Bias in binge eating disorder: How representative are recruited clinic samples?

  Wilfley, D. E., Pike, K. M., Dohm, F. A., Striegel-Moore, R. H. & Fairburn, C. G., 2001, In: Journal of Consulting and Clinical Psychology. 69, 3, p. 383-388 6 p.

  Research output: Contribution to journal › Article › peer-review
  76 Scopus citations

• Biases of motion perception revealed by reversing gratings in humans who had infantile-onset strabismus

  Tychsen, L., Rastelli, A., Steinman, S. & Steinman, B., May 1996, In: Developmental Medicine and Child Neurology. 38, 5, p. 408-422 15 p.

  Research output: Contribution to journal › Article › peer-review
  15 Scopus citations

• Biased Profile of Xanomeline at the Recombinant Human M₄Muscarinic Acetylcholine Receptor

  McDonald, J. K., Van Der Westhuizen, E. T., Pham, V., Thompson, G., Felder, C. C., Paul, S. M., Thal, D. M., Christopoulos, A. & Valant, C., Apr 20 2022, In: ACS Chemical Neuroscience. 13, 8, p. 1206-1218 13 p.

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

• Biased ligands at opioid receptors: Current status and future directions

  Che, T., Dwivedi-Agnihotri, H., Shukla, A. K. & Roth, B. L., Apr 6 2021, In: Science signaling. 14, 677, eaav0320.

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

• Biased GPCR signaling by the native parathyroid hormone–related protein 1 to 141 relative to its N-terminal fragment 1 to 36

  Peña, K. A., White, A. D., Savransky, S., Castillo, I. P., Jean-Alphonse, F. G., Gardella, T. J., Sutkeviciute, I. & Vilardaga, J. P., Sep 2022, In: Journal of Biological Chemistry. 298, 9, 102332.

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

  Open Access

• Biased gene conversion is not occurring among rDNA repeats in the Brassica triangle

  Waters, E. R. & Schaal, B. A., Feb 1996, In: Genome. 39, 1, p. 150-154 5 p.

  Research output: Contribution to journal › Article › peer-review
  36 Scopus citations

• Biased-corrected richness estimates for the Amazonian tree flora

  ter Steege, H., Prado, P. I., Lima, R. A. F. D., Pos, E., de Souza Coelho, L., de Andrade Lima Filho, D., Salomão, R. P., Amaral, I. L., de Almeida Matos, F. D., Castilho, C. V., Phillips, O. L., Guevara, J. E., de Jesus Veiga Carim, M., Cárdenas López, D., Magnusson, W. E., Wittmann, F., Martins, M. P., Sabatier, D., Irume, M. V., da Silva Guimarães, J. R., & 193 othersMolino, J. F., Bánki, O. S., Piedade, M. T. F., Pitman, N. C. A., Ramos, J. F., Monteagudo Mendoza, A., Venticinque, E. M., Luize, B. G., Núñez Vargas, P., Silva, T. S. F., de Leão Novo, E. M. M., Reis, N. F. C., Terborgh, J., Manzatto, A. G., Casula, K. R., Honorio Coronado, E. N., Montero, J. C., Duque, A., Costa, F. R. C., Castaño Arboleda, N., Schöngart, J., Zartman, C. E., Killeen, T. J., Marimon, B. S., Marimon-Junior, B. H., Vasquez, R., Mostacedo, B., Demarchi, L. O., Feldpausch, T. R., Engel, J., Petronelli, P., Baraloto, C., Assis, R. L., Castellanos, H., Simon, M. F., de Medeiros, M. B., Quaresma, A., Laurance, S. G. W., Rincón, L. M., Andrade, A., Sousa, T. R., Camargo, J. L., Schietti, J., Laurance, W. F., de Queiroz, H. L., Nascimento, H. E. M., Lopes, M. A., de Sousa Farias, E., Magalhães, J. L. L., Brienen, R., Aymard C, G. A., Revilla, J. D. C., Vieira, I. C. G., Cintra, B. B. L., Stevenson, P. R., Feitosa, Y. O., Duivenvoorden, J. F., Mogollón, H. F., Araujo-Murakami, A., Ferreira, L. V., Lozada, J. R., Comiskey, J. A., de Toledo, J. J., Damasco, G., Dávila, N., Lopes, A., García-Villacorta, R., Draper, F., Vicentini, A., Cornejo Valverde, F., Lloyd, J., Gomes, V. H. F., Neill, D., Alonso, A., Dallmeier, F., de Souza, F. C., Gribel, R., Arroyo, L., Carvalho, F. A., de Aguiar, D. P. P., do Amaral, D. D., Pansonato, M. P., Feeley, K. J., Berenguer, E., Fine, P. V. A., Guedes, M. C., Barlow, J., Ferreira, J., Villa, B., Peñuela Mora, M. C., Jimenez, E. M., Licona, J. C., Cerón, C., Thomas, R., Maas, P., Silveira, M., Henkel, T. W., Stropp, J., Paredes, M. R., Dexter, K. G., Daly, D., Baker, T. R., Huamantupa-Chuquimaco, I., Milliken, W., Pennington, T., Tello, J. S., Pena, J. L. M., Peres, C. A., Klitgaard, B., Fuentes, A., Silman, M. R., Di Fiore, A., von Hildebrand, P., Chave, J., van Andel, T. R., Hilário, R. R., Phillips, J. F., Rivas-Torres, G., Noronha, J. C., Prieto, A., Gonzales, T., de Sá Carpanedo, R., Gonzales, G. P. G., Gómez, R. Z., de Jesus Rodrigues, D., Zent, E. L., Ruschel, A. R., Vos, V. A., Fonty, É., Junqueira, A. B., Doza, H. P. D., Hoffman, B., Zent, S., Barbosa, E. M., Malhi, Y., de Matos Bonates, L. C., de Andrade Miranda, I. P., Silva, N., Barbosa, F. R., Vela, C. I. A., Pinto, L. F. M., Rudas, A., Albuquerque, B. W., Umaña, M. N., Carrero Márquez, Y. A., van der Heijden, G., Young, K. R., Tirado, M., Correa, D. F., Sierra, R., Costa, J. B. P., Rocha, M., Vilanova Torre, E., Wang, O., Oliveira, A. A., Kalamandeen, M., Vriesendorp, C., Ramirez-Angulo, H., Holmgren, M., Nascimento, M. T., Galbraith, D., Flores, B. M., Scudeller, V. V., Cano, A., Ahuite Reategui, M. A., Mesones, I., Baider, C., Mendoza, C., Zagt, R., Urrego Giraldo, L. E., Ferreira, C., Villarroel, D., Linares-Palomino, R., Farfan-Rios, W., Farfan-Rios, W., Casas, L. F., Cárdenas, S., Balslev, H., Torres-Lezama, A., Alexiades, M. N., Garcia-Cabrera, K., Valenzuela Gamarra, L., Valderrama Sandoval, E. H., Ramirez Arevalo, F., Hernandez, L., Sampaio, A. F., Pansini, S., Palacios Cuenca, W., de Oliveira, E. A., Pauletto, D., Levesley, A., Melgaço, K. & Pickavance, G., Dec 1 2020, In: Scientific reports. 10, 1, 10130.

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

  Open Access
  38 Scopus citations

• Bias due to missing SEER data in D'Amico risk stratification of prostate cancer

  Elliott, S. P., Johnson, D. P., Jarosek, S. L., Konety, B. R., Adejoro, O. O. & Virnig, B. A., Jun 1 2012, In: Journal of Urology. 187, 6, p. 2026-2031 6 p.

  Research output: Contribution to journal › Article › peer-review
  20 Scopus citations

• Bias associated with mining electronic health records

  Hripcsak, G., Knirsch, C., Zhou, L., Wilcox, A. & Melton, G. B., 2011, In: Journal of Biomedical Discovery and Collaboration. 6, 1, p. 48-52 5 p.

  Research output: Contribution to journal › Article › peer-review
  48 Scopus citations

• Biaryl cannabinoid mimetics-Synthesis and structure-activity relationship

  Worm, K., Zhou, Q. J., Stabley, G. J., DeHaven, R. N. & Dolle, R. E., Jul 1 2007, In: Bioorganic and Medicinal Chemistry Letters. 17, 13, p. 3652-3656 5 p.

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

• 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 journal › Article › peer-review

  Open Access
  2 Scopus citations

• Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype

  Kloth, K., Bierhals, T., Johannsen, J., Harms, F. L., Juusola, J., Johnson, M. C., Grange, D. K. & Kutsche, K., Jun 1 2019, In: Human genetics. 138, 6, p. 625-634 10 p.

  Research output: Contribution to journal › Article › peer-review
  6 Scopus citations

• Biallelic variants in RNU12 cause CDAGS syndrome

  Xing, C., Kanchwala, M., Rios, J. J., Hyatt, T., Wang, R. C., Tran, A., Dougherty, I., Tovar-Garza, A., Purnadi, C., Kumar, M. G., Berk, D., Shinawi, M., Irvine, A. D., Toledo-Bahena, M., Agim, N. G. & Glass, D. A., Aug 2021, In: Human mutation. 42, 8, p. 1042-1052 11 p.

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

  Open Access
  2 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
  9 Scopus citations

• Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome

  Wambach, J. A., Wegner, D. J., Patni, N., Kircher, M., Willing, M. C., Baldridge, D., Xing, C., Agarwal, A. K., Vergano, S. A. S., Patel, C., Grange, D. K., Kenney, A., Najaf, T., Nickerson, D. A., Bamshad, M. J., Cole, F. S. & Garg, A., Dec 6 2018, In: American journal of human genetics. 103, 6, p. 968-975 8 p.

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

  Open Access
  33 Scopus citations

• Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

  Undiagnosed Diseases Network, Mar 1 2018, In: American journal of human genetics. 102, 3, p. 494-504 11 p.

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

  Open Access
  43 Scopus citations

• Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

  Undiagnosed Diseases Network, Aug 1 2020, In: Brain. 143, 8, p. 2437-2453 17 p.

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

  Open Access
  10 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 journal › Article › peer-review

  Open Access
  2 Scopus citations

• Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2)

  Rosano, K. K., Wegner, D. J., Shinawi, M., Baldridge, D., Bucelli, R. C., Dahiya, S., White, F. V., Willing, M. C., McAllister, W., Taft, R. J., Bluske, K., Buchanan, A., Cole, F. S. & Wambach, J. A., Jul 2021, In: American Journal of Medical Genetics, Part A. 185, 7, p. 2190-2197 8 p.

  Research output: Contribution to journal › Article › peer-review
  3 Scopus citations

• 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 journal › Article › peer-review

  Open Access
  5 Scopus citations

• BHLHE40 Regulates the T-Cell Effector Function Required for Tumor Microenvironment Remodeling and Immune Checkpoint Therapy Efficacy

  Salmon, A. J., Shavkunov, A. S., Miao, Q., Jarjour, N. N., Keshari, S., Esaulova, E., Williams, C. D., Ward, J. P., Highsmith, A. M., Pineda, J. E., Taneja, R., Chen, K., Edelson, B. T. & Gubin, M. M., May 3 2022, In: Cancer immunology research. 10, 5, p. 597-611 15 p.

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

  Open Access