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Disruption of .

HGG advances

Adegbola A, Lutz R, Nikkola E, Strom SP, Picker J, Wynshaw-Boris A.
PMID: 33718894
HGG Adv. 2020 Oct 22;1(1). doi: 10.1016/j.xhgg.2020.100007. Epub 2020 Aug 25.

Attention deficit hyperactivity disorder (ADHD) is a common and highly heritable neurodevelopmental disorder with poorly understood pathophysiology and genetic mechanisms. A balanced chromosomal translocation interrupts

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Adegbola A, Lutz R, Nikkola E, et al. Disruption of . HGG Adv. 2020;1(1)doi: 10.1016/j.xhgg.2020.100007.
Adegbola, A., Lutz, R., Nikkola, E., Strom, S. P., Picker, J., & Wynshaw-Boris, A. (2020). Disruption of . HGG advances, 1(1), . https://doi.org/10.1016/j.xhgg.2020.100007
Adegbola, Abidemi, et al. "Disruption of ." HGG advances vol. 1,1 (2020). doi: https://doi.org/10.1016/j.xhgg.2020.100007
Adegbola A, Lutz R, Nikkola E, Strom SP, Picker J, Wynshaw-Boris A. Disruption of . HGG Adv. 2020 Oct 22;1(1). doi: 10.1016/j.xhgg.2020.100007. Epub 2020 Aug 25. PMID: 33718894; PMCID: PMC7948131.
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TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.

HGG advances

Van De Weghe JC, Giordano JL, Mathijssen IB, Mojarrad M, Lugtenberg D, Miller CV, Dempsey JC, Mohajeri MSA, van Leeuwen E, Pajkrt E, Klaver CCW, Houlden H, Eslahi A, Waters AM, Bamshad MJ, Nickerson DA, Aggarwal VS, de Vries BBA, Maroofian R, Doherty D.
PMID: 33791682
HGG Adv. 2021 Jan 14;2(1). doi: 10.1016/j.xhgg.2020.100016. Epub 2020 Nov 21.

The Joubert-Meckel syndrome spectrum is a continuum of recessive ciliopathy conditions caused by primary cilium dysfunction. The primary cilium is a microtubule-based, antenna-like organelle that projects from the surface of most human cell types, allowing them to respond to...

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Van De Weghe JC, Giordano JL, Mathijssen IB, et al. TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes. HGG Adv. 2020;2(1)doi: 10.1016/j.xhgg.2020.100016.
Van De Weghe, J. C., Giordano, J. L., Mathijssen, I. B., Mojarrad, M., Lugtenberg, D., Miller, C. V., Dempsey, J. C., Mohajeri, M. S. A., van Leeuwen, E., Pajkrt, E., Klaver, C. C. W., Houlden, H., Eslahi, A., Waters, A. M., Bamshad, M. J., Nickerson, D. A., Aggarwal, V. S., de Vries, B. B. A., Maroofian, R., & Doherty, D. (2021). TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes. HGG advances, 2(1), . https://doi.org/10.1016/j.xhgg.2020.100016
Van De Weghe, Julie C, et al. "TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes." HGG advances vol. 2,1 (2021). doi: https://doi.org/10.1016/j.xhgg.2020.100016
Van De Weghe JC, Giordano JL, Mathijssen IB, Mojarrad M, Lugtenberg D, Miller CV, Dempsey JC, Mohajeri MSA, van Leeuwen E, Pajkrt E, Klaver CCW, Houlden H, Eslahi A, Waters AM, Bamshad MJ, Nickerson DA, Aggarwal VS, de Vries BBA, Maroofian R, Doherty D. TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes. HGG Adv. 2021 Jan 14;2(1). doi: 10.1016/j.xhgg.2020.100016. Epub 2020 Nov 21. PMID: 33791682; PMCID: PMC8009330.
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Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders.

HGG advances

Hiatt SM, Lawlor JMJ, Handley LH, Ramaker RC, Rogers BB, Partridge EC, Boston LB, Williams M, Plott CB, Jenkins J, Gray DE, Holt JM, Bowling KM, Bebin EM, Grimwood J, Schmutz J, Cooper GM.
PMID: 33937879
HGG Adv. 2021 Apr 08;2(2). doi: 10.1016/j.xhgg.2021.100023. Epub 2021 Jan 16.

Exome and genome sequencing have proven to be effective tools for the diagnosis of neurodevelopmental disorders (NDDs), but large fractions of NDDs cannot be attributed to currently detectable genetic variation. This is likely, at least in part, a result...

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Hiatt SM, Lawlor JMJ, Handley LH, et al. Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders. HGG Adv. 2021;2(2)doi: 10.1016/j.xhgg.2021.100023.
Hiatt, S. M., Lawlor, J. M. J., Handley, L. H., Ramaker, R. C., Rogers, B. B., Partridge, E. C., Boston, L. B., Williams, M., Plott, C. B., Jenkins, J., Gray, D. E., Holt, J. M., Bowling, K. M., Bebin, E. M., Grimwood, J., Schmutz, J., & Cooper, G. M. (2021). Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders. HGG advances, 2(2), . https://doi.org/10.1016/j.xhgg.2021.100023
Hiatt, Susan M, et al. "Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders." HGG advances vol. 2,2 (2021). doi: https://doi.org/10.1016/j.xhgg.2021.100023
Hiatt SM, Lawlor JMJ, Handley LH, Ramaker RC, Rogers BB, Partridge EC, Boston LB, Williams M, Plott CB, Jenkins J, Gray DE, Holt JM, Bowling KM, Bebin EM, Grimwood J, Schmutz J, Cooper GM. Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders. HGG Adv. 2021 Apr 08;2(2). doi: 10.1016/j.xhgg.2021.100023. Epub 2021 Jan 16. PMID: 33937879; PMCID: PMC8087252.
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HLA-A∗03:01 is associated with increased risk of fever, chills, and stronger side effects from Pfizer-BioNTech COVID-19 vaccination.

HGG advances

Bolze A, Neveux I, Schiabor Barrett KM, White S, Isaksson M, Dabe S, Lee W, Grzymski JJ, Washington NL, Cirulli ET.
PMID: 35005651
HGG Adv. 2022 Apr 14;3(2):100084. doi: 10.1016/j.xhgg.2021.100084. Epub 2022 Jan 01.

COVID-19 vaccines are safe and highly effective, but some individuals experience unpleasant reactions to vaccination. As the majority of adults in the United States have received a COVID-19 vaccine this year, there is an unprecedented opportunity to study the...

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Bolze A, Neveux I, Schiabor Barrett KM, et al. HLA-A∗03:01 is associated with increased risk of fever, chills, and stronger side effects from Pfizer-BioNTech COVID-19 vaccination. HGG Adv. 2022;3(2):100084doi: 10.1016/j.xhgg.2021.100084.
Bolze, A., Neveux, I., Schiabor Barrett, K. M., White, S., Isaksson, M., Dabe, S., Lee, W., Grzymski, J. J., Washington, N. L., & Cirulli, E. T. (2022). HLA-A∗03:01 is associated with increased risk of fever, chills, and stronger side effects from Pfizer-BioNTech COVID-19 vaccination. HGG advances, 3(2), 100084. https://doi.org/10.1016/j.xhgg.2021.100084
Bolze, Alexandre, et al. "HLA-A∗03:01 is associated with increased risk of fever, chills, and stronger side effects from Pfizer-BioNTech COVID-19 vaccination." HGG advances vol. 3,2 (2022): 100084. doi: https://doi.org/10.1016/j.xhgg.2021.100084
Bolze A, Neveux I, Schiabor Barrett KM, White S, Isaksson M, Dabe S, Lee W, Grzymski JJ, Washington NL, Cirulli ET. HLA-A∗03:01 is associated with increased risk of fever, chills, and stronger side effects from Pfizer-BioNTech COVID-19 vaccination. HGG Adv. 2022 Apr 14;3(2):100084. doi: 10.1016/j.xhgg.2021.100084. Epub 2022 Jan 01. PMID: 35005651; PMCID: PMC8719913.
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Identification of a common polymorphism in .

HGG advances

Landis BJ, Lai D, Guo DC, Corvera JS, Idrees MT, Stadler HW, Cuevas C, Needler GU, Vujakovich CE, Milewicz DM, Hinton RB, Ware SM.
PMID: 34917985
HGG Adv. 2022 Jan 13;3(1). doi: 10.1016/j.xhgg.2021.100057. Epub 2021 Sep 17.

Thoracic aortic aneurysm (TAA) predisposes to sudden, life-threatening aortic dissection. The factors that regulate interindividual variability in TAA severity are not well understood. Identifying a molecular basis for this variability has the potential to improve clinical risk stratification and...

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Landis BJ, Lai D, Guo DC, et al. Identification of a common polymorphism in . HGG Adv. 2021;3(1)doi: 10.1016/j.xhgg.2021.100057.
Landis, B. J., Lai, D., Guo, D. C., Corvera, J. S., Idrees, M. T., Stadler, H. W., Cuevas, C., Needler, G. U., Vujakovich, C. E., Milewicz, D. M., Hinton, R. B., & Ware, S. M. (2022). Identification of a common polymorphism in . HGG advances, 3(1), . https://doi.org/10.1016/j.xhgg.2021.100057
Landis, Benjamin J, et al. "Identification of a common polymorphism in ." HGG advances vol. 3,1 (2022). doi: https://doi.org/10.1016/j.xhgg.2021.100057
Landis BJ, Lai D, Guo DC, Corvera JS, Idrees MT, Stadler HW, Cuevas C, Needler GU, Vujakovich CE, Milewicz DM, Hinton RB, Ware SM. Identification of a common polymorphism in . HGG Adv. 2022 Jan 13;3(1). doi: 10.1016/j.xhgg.2021.100057. Epub 2021 Sep 17. PMID: 34917985; PMCID: PMC8670066.
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MUNIn: A statistical framework for identifying long-range chromatin interactions from multiple samples.

HGG advances

Liu W, Yang Y, Abnousi A, Zhang Q, Kubo N, Beem JSM, Li Y, Hu M.
PMID: 34485947
HGG Adv. 2021 Jul 08;2(3). doi: 10.1016/j.xhgg.2021.100036. Epub 2021 May 23.

Chromatin spatial organization (interactome) plays a critical role in genome function. Deep understanding of chromatin interactome can shed insights into transcriptional regulation mechanisms and human disease pathology. One essential task in the analysis of chromatin interactomic data is to...

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Liu W, Yang Y, Abnousi A, et al. MUNIn: A statistical framework for identifying long-range chromatin interactions from multiple samples. HGG Adv. 2021;2(3)doi: 10.1016/j.xhgg.2021.100036.
Liu, W., Yang, Y., Abnousi, A., Zhang, Q., Kubo, N., Beem, J. S. M., Li, Y., & Hu, M. (2021). MUNIn: A statistical framework for identifying long-range chromatin interactions from multiple samples. HGG advances, 2(3), . https://doi.org/10.1016/j.xhgg.2021.100036
Liu, Weifang, et al. "MUNIn: A statistical framework for identifying long-range chromatin interactions from multiple samples." HGG advances vol. 2,3 (2021). doi: https://doi.org/10.1016/j.xhgg.2021.100036
Liu W, Yang Y, Abnousi A, Zhang Q, Kubo N, Beem JSM, Li Y, Hu M. MUNIn: A statistical framework for identifying long-range chromatin interactions from multiple samples. HGG Adv. 2021 Jul 08;2(3). doi: 10.1016/j.xhgg.2021.100036. Epub 2021 May 23. PMID: 34485947; PMCID: PMC8415461.
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Genetic Factors Associated with Prostate Cancer Conversion from Active Surveillance to Treatment.

HGG advances

Jiang Y, Meyers TJ, Emeka AA, Cooley LF, Cooper PR, Lancki N, Helenowski I, Kachuri L, Lin DW, Stanford JL, Newcomb LF, Kolb S, Finelli A, Fleshner NE, Komisarenko M, Eastham JA, Ehdaie B, Benfante N, Logothetis CJ, Gregg JR, Perez CA, Garza S, Kim J, Marks LS, Delfin M, Barsa D, Vesprini D, Klotz LH, Loblaw A, Mamedov A, Goldenberg SL, Higano CS, Spillane M, Wu E, Carter HB, Pavlovich CP, Mamawala M, Landis T, Carroll PR, Chan JM, Cooperberg MR, Cowan JE, Morgan TM, Siddiqui J, Martin R, Klein EA, Brittain K, Gotwald P, Barocas DA, Dallmer JR, Gordetsky JB, Steele P, Kundu SD, Stockdale J, Roobol MJ, Venderbos LDF, Sanda MG, Arnold R, Patil D, Evans CP, Dall'Era MA, Vij A, Costello AJ, Chow K, Corcoran NM, Rais-Bahrami S, Phares C, Scherr DS, Flynn T, Karnes RJ, Koch M, Dhondt CR, Nelson JB, McBride D, Cookson MS, Stratton KL, Farriester S, Hemken E, Stadler WM, Pera T, Banionyte D, Bianco FJ, Lopez IH, Loeb S, Taneja SS, Byrne N, Amling CL, Martinez A, Boileau L, Gaylis FD, Petkewicz J, Kirwen N, Helfand BT, Xu J, Scholtens DM, Catalona WJ, Witte JS.
PMID: 34993496
HGG Adv. 2022 Jan 13;3(1). doi: 10.1016/j.xhgg.2021.100070. Epub 2021 Nov 19.

Men diagnosed with low-risk prostate cancer (PC) are increasingly electing active surveillance (AS) as their initial management strategy. While this may reduce the side effects of treatment for prostate cancer, many men on AS eventually convert to active treatment....

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Jiang Y, Meyers TJ, Emeka AA, et al. Genetic Factors Associated with Prostate Cancer Conversion from Active Surveillance to Treatment. HGG Adv. 2021;3(1)doi: 10.1016/j.xhgg.2021.100070.
Jiang, Y., Meyers, T. J., Emeka, A. A., Cooley, L. F., Cooper, P. R., Lancki, N., Helenowski, I., Kachuri, L., Lin, D. W., Stanford, J. L., Newcomb, L. F., Kolb, S., Finelli, A., Fleshner, N. E., Komisarenko, M., Eastham, J. A., Ehdaie, B., Benfante, N., Logothetis, C. J., Gregg, J. R., Perez, C. A., Garza, S., Kim, J., Marks, L. S., Delfin, M., Barsa, D., Vesprini, D., Klotz, L. H., Loblaw, A., Mamedov, A., Goldenberg, S. L., Higano, C. S., Spillane, M., Wu, E., Carter, H. B., Pavlovich, C. P., Mamawala, M., Landis, T., Carroll, P. R., Chan, J. M., Cooperberg, M. R., Cowan, J. E., Morgan, T. M., Siddiqui, J., Martin, R., Klein, E. A., Brittain, K., Gotwald, P., Barocas, D. A., Dallmer, J. R., Gordetsky, J. B., Steele, P., Kundu, S. D., Stockdale, J., Roobol, M. J., Venderbos, L. D. F., Sanda, M. G., Arnold, R., Patil, D., Evans, C. P., Dall'Era, M. A., Vij, A., Costello, A. J., Chow, K., Corcoran, N. M., Rais-Bahrami, S., Phares, C., Scherr, D. S., Flynn, T., Karnes, R. J., Koch, M., Dhondt, C. R., Nelson, J. B., McBride, D., Cookson, M. S., Stratton, K. L., Farriester, S., Hemken, E., Stadler, W. M., Pera, T., Banionyte, D., Bianco, F. J., Lopez, I. H., Loeb, S., Taneja, S. S., Byrne, N., Amling, C. L., Martinez, A., Boileau, L., Gaylis, F. D., Petkewicz, J., Kirwen, N., Helfand, B. T., Xu, J., Scholtens, D. M., Catalona, W. J., & Witte, J. S. (2022). Genetic Factors Associated with Prostate Cancer Conversion from Active Surveillance to Treatment. HGG advances, 3(1), . https://doi.org/10.1016/j.xhgg.2021.100070
Jiang, Yu, et al. "Genetic Factors Associated with Prostate Cancer Conversion from Active Surveillance to Treatment." HGG advances vol. 3,1 (2022). doi: https://doi.org/10.1016/j.xhgg.2021.100070
Jiang Y, Meyers TJ, Emeka AA, Cooley LF, Cooper PR, Lancki N, Helenowski I, Kachuri L, Lin DW, Stanford JL, Newcomb LF, Kolb S, Finelli A, Fleshner NE, Komisarenko M, Eastham JA, Ehdaie B, Benfante N, Logothetis CJ, Gregg JR, Perez CA, Garza S, Kim J, Marks LS, Delfin M, Barsa D, Vesprini D, Klotz LH, Loblaw A, Mamedov A, Goldenberg SL, Higano CS, Spillane M, Wu E, Carter HB, Pavlovich CP, Mamawala M, Landis T, Carroll PR, Chan JM, Cooperberg MR, Cowan JE, Morgan TM, Siddiqui J, Martin R, Klein EA, Brittain K, Gotwald P, Barocas DA, Dallmer JR, Gordetsky JB, Steele P, Kundu SD, Stockdale J, Roobol MJ, Venderbos LDF, Sanda MG, Arnold R, Patil D, Evans CP, Dall'Era MA, Vij A, Costello AJ, Chow K, Corcoran NM, Rais-Bahrami S, Phares C, Scherr DS, Flynn T, Karnes RJ, Koch M, Dhondt CR, Nelson JB, McBride D, Cookson MS, Stratton KL, Farriester S, Hemken E, Stadler WM, Pera T, Banionyte D, Bianco FJ, Lopez IH, Loeb S, Taneja SS, Byrne N, Amling CL, Martinez A, Boileau L, Gaylis FD, Petkewicz J, Kirwen N, Helfand BT, Xu J, Scholtens DM, Catalona WJ, Witte JS. Genetic Factors Associated with Prostate Cancer Conversion from Active Surveillance to Treatment. HGG Adv. 2022 Jan 13;3(1). doi: 10.1016/j.xhgg.2021.100070. Epub 2021 Nov 19. PMID: 34993496; PMCID: PMC8725988.
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Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals.

HGG advances

Chen H, Majumdar A, Wang L, Kar S, Brown KM, Feng H, Turman C, Dennis J, Easton D, Michailidou K, Simard J, Bishop T, Cheng IC, Huyghe JR, Schmit SL, O'Mara TA, Spurdle AB, Gharahkhani P, Schumacher J, Jankowski J, Gocke I, Bondy ML, Houlston RS, Jenkins RB, Melin B, Lesseur C, Ness AR, Diergaarde B, Olshan AF, Amos CI, Christiani DC, Landi MT, McKay JD, Brossard M, Iles MM, Law MH, MacGregor S, Beesley J, Jones MR, Tyrer J, Winham SJ, Klein AP, Petersen G, Li D, Wolpin BM, Eeles RA, Haiman CA, Kote-Jarai Z, Schumacher FR, Brennan P, Chanock SJ, Gaborieau V, Purdue MP, Pharoah P, Hung RJ, Amundadottir LT, Kraft P, Pasaniuc B, Lindström S.
PMID: 34355204
HGG Adv. 2021 Jul 08;2(3). doi: 10.1016/j.xhgg.2021.100041. Epub 2021 Jun 12.

Genome-wide association studies (GWASs) have identified thousands of cancer risk loci revealing many risk regions shared across multiple cancers. Characterizing the cross-cancer shared genetic basis can increase our understanding of global mechanisms of cancer development. In this study, we...

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Chen H, Majumdar A, Wang L, et al. Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals. HGG Adv. 2021;2(3)doi: 10.1016/j.xhgg.2021.100041.
Chen, H., Majumdar, A., Wang, L., Kar, S., Brown, K. M., Feng, H., Turman, C., Dennis, J., Easton, D., Michailidou, K., Simard, J., Bishop, T., Cheng, I. C., Huyghe, J. R., Schmit, S. L., O'Mara, T. A., Spurdle, A. B., Gharahkhani, P., Schumacher, J., Jankowski, J., Gocke, I., Bondy, M. L., Houlston, R. S., Jenkins, R. B., Melin, B., Lesseur, C., Ness, A. R., Diergaarde, B., Olshan, A. F., Amos, C. I., Christiani, D. C., Landi, M. T., McKay, J. D., Brossard, M., Iles, M. M., Law, M. H., MacGregor, S., Beesley, J., Jones, M. R., Tyrer, J., Winham, S. J., Klein, A. P., Petersen, G., Li, D., Wolpin, B. M., Eeles, R. A., Haiman, C. A., Kote-Jarai, Z., Schumacher, F. R., Brennan, P., Chanock, S. J., Gaborieau, V., Purdue, M. P., Pharoah, P., Hung, R. J., Amundadottir, L. T., Kraft, P., Pasaniuc, B., & Lindström, S. (2021). Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals. HGG advances, 2(3), . https://doi.org/10.1016/j.xhgg.2021.100041
Chen, Hongjie, et al. "Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals." HGG advances vol. 2,3 (2021). doi: https://doi.org/10.1016/j.xhgg.2021.100041
Chen H, Majumdar A, Wang L, Kar S, Brown KM, Feng H, Turman C, Dennis J, Easton D, Michailidou K, Simard J, Bishop T, Cheng IC, Huyghe JR, Schmit SL, O'Mara TA, Spurdle AB, Gharahkhani P, Schumacher J, Jankowski J, Gocke I, Bondy ML, Houlston RS, Jenkins RB, Melin B, Lesseur C, Ness AR, Diergaarde B, Olshan AF, Amos CI, Christiani DC, Landi MT, McKay JD, Brossard M, Iles MM, Law MH, MacGregor S, Beesley J, Jones MR, Tyrer J, Winham SJ, Klein AP, Petersen G, Li D, Wolpin BM, Eeles RA, Haiman CA, Kote-Jarai Z, Schumacher FR, Brennan P, Chanock SJ, Gaborieau V, Purdue MP, Pharoah P, Hung RJ, Amundadottir LT, Kraft P, Pasaniuc B, Lindström S. Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals. HGG Adv. 2021 Jul 08;2(3). doi: 10.1016/j.xhgg.2021.100041. Epub 2021 Jun 12. PMID: 34355204; PMCID: PMC8336922.
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The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip.

HGG advances

Curtis SW, Chang D, Lee MK, Shaffer JR, Indencleef K, Epstein MP, Cutler DJ, Murray JC, Feingold E, Beaty TH, Claes P, Weinberg SM, Marazita ML, Carlson JC, Leslie EJ.
PMID: 33817668
HGG Adv. 2021 Apr 08;2(2). doi: 10.1016/j.xhgg.2021.100025.

Nonsyndromic orofacial clefts (OFCs) are a common birth defect and are phenotypically heterogenous in the structure affected by the cleft - cleft lip (CL) and cleft lip and palate (CLP) - as well as other features, such as the...

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Curtis SW, Chang D, Lee MK, et al. The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip. HGG Adv. 2021;2(2)doi: 10.1016/j.xhgg.2021.100025.
Curtis, S. W., Chang, D., Lee, M. K., Shaffer, J. R., Indencleef, K., Epstein, M. P., Cutler, D. J., Murray, J. C., Feingold, E., Beaty, T. H., Claes, P., Weinberg, S. M., Marazita, M. L., Carlson, J. C., & Leslie, E. J. (2021). The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip. HGG advances, 2(2), . https://doi.org/10.1016/j.xhgg.2021.100025
Curtis, Sarah W, et al. "The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip." HGG advances vol. 2,2 (2021). doi: https://doi.org/10.1016/j.xhgg.2021.100025
Curtis SW, Chang D, Lee MK, Shaffer JR, Indencleef K, Epstein MP, Cutler DJ, Murray JC, Feingold E, Beaty TH, Claes P, Weinberg SM, Marazita ML, Carlson JC, Leslie EJ. The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip. HGG Adv. 2021 Apr 08;2(2). doi: 10.1016/j.xhgg.2021.100025. PMID: 33817668; PMCID: PMC8018676.
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HLA-A*03:01 is associated with increased risk of fever, chills, and stronger side effects from Pfizer-BioNTech COVID-19 vaccination.

HGG advances

Bolze A, Neveux I, Schiabor Barrett KM, White S, Isaksson M, Dabe S, Lee W, Grzymski JJ, Washington NL, Cirulli ET.
PMID: 35005651
HGG Adv. 2022 Jan 01;100084. doi: 10.1016/j.xhgg.2021.100084. Epub 2022 Jan 01.

COVID-19 vaccines are safe and highly effective, but some individuals experience unpleasant reactions to vaccination. As the majority of adults in the US have received a COVID-19 vaccine this year, there is an unprecedented opportunity to study the genetics...

Cite
Bolze A, Neveux I, Schiabor Barrett KM, et al. HLA-A*03:01 is associated with increased risk of fever, chills, and stronger side effects from Pfizer-BioNTech COVID-19 vaccination. HGG Adv. 2022;100084doi: 10.1016/j.xhgg.2021.100084.
Bolze, A., Neveux, I., Schiabor Barrett, K. M., White, S., Isaksson, M., Dabe, S., Lee, W., Grzymski, J. J., Washington, N. L., & Cirulli, E. T. (2022). HLA-A*03:01 is associated with increased risk of fever, chills, and stronger side effects from Pfizer-BioNTech COVID-19 vaccination. HGG advances, 100084. https://doi.org/10.1016/j.xhgg.2021.100084
Bolze, Alexandre, et al. "HLA-A*03:01 is associated with increased risk of fever, chills, and stronger side effects from Pfizer-BioNTech COVID-19 vaccination." HGG advances vol. (2022): 100084. doi: https://doi.org/10.1016/j.xhgg.2021.100084
Bolze A, Neveux I, Schiabor Barrett KM, White S, Isaksson M, Dabe S, Lee W, Grzymski JJ, Washington NL, Cirulli ET. HLA-A*03:01 is associated with increased risk of fever, chills, and stronger side effects from Pfizer-BioNTech COVID-19 vaccination. HGG Adv. 2022 Jan 01;100084. doi: 10.1016/j.xhgg.2021.100084. Epub 2022 Jan 01. PMID: 35005651; PMCID: PMC8719913.
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Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease.

HGG advances

Teekakirikul P, Zhu W, Gabriel GC, Young CB, Williams K, Martin LJ, Hill JC, Richards T, Billaud M, Phillippi JA, Wang J, Wu Y, Tan T, Devine W, Lin JH, Bais AS, Klonowski J, de Bellaing AM, Saini A, Wang MX, Emerel L, Salamacha N, Wyman SK, Lee C, Sing Li H, Miron A, Zhang J, Xing J, McNamara DM, Fung E, Kirshbom P, Mahle W, Kochilas LK, He Y, Garg V, White P, McBride KL, Benson DW, Gleason TG, Mital S, Lo CW.
PMID: 34888534
HGG Adv. 2021 Jul 08;2(3). doi: 10.1016/j.xhgg.2021.100037. Epub 2021 Jul 29.

Bicuspid aortic valve (BAV) with ~1%-2% prevalence is the most common congenital heart defect (CHD). It frequently results in valve disease and aorta dilation and is a major cause of adult cardiac surgery. BAV is genetically linked to rare...

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Teekakirikul P, Zhu W, Gabriel GC, et al. Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease. HGG Adv. 2021;2(3)doi: 10.1016/j.xhgg.2021.100037.
Teekakirikul, P., Zhu, W., Gabriel, G. C., Young, C. B., Williams, K., Martin, L. J., Hill, J. C., Richards, T., Billaud, M., Phillippi, J. A., Wang, J., Wu, Y., Tan, T., Devine, W., Lin, J. H., Bais, A. S., Klonowski, J., de Bellaing, A. M., Saini, A., Wang, M. X., Emerel, L., Salamacha, N., Wyman, S. K., Lee, C., Sing Li, H., Miron, A., Zhang, J., Xing, J., McNamara, D. M., Fung, E., Kirshbom, P., Mahle, W., Kochilas, L. K., He, Y., Garg, V., White, P., McBride, K. L., Benson, D. W., Gleason, T. G., Mital, S., & Lo, C. W. (2021). Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease. HGG advances, 2(3), . https://doi.org/10.1016/j.xhgg.2021.100037
Teekakirikul, Polakit, et al. "Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease." HGG advances vol. 2,3 (2021). doi: https://doi.org/10.1016/j.xhgg.2021.100037
Teekakirikul P, Zhu W, Gabriel GC, Young CB, Williams K, Martin LJ, Hill JC, Richards T, Billaud M, Phillippi JA, Wang J, Wu Y, Tan T, Devine W, Lin JH, Bais AS, Klonowski J, de Bellaing AM, Saini A, Wang MX, Emerel L, Salamacha N, Wyman SK, Lee C, Sing Li H, Miron A, Zhang J, Xing J, McNamara DM, Fung E, Kirshbom P, Mahle W, Kochilas LK, He Y, Garg V, White P, McBride KL, Benson DW, Gleason TG, Mital S, Lo CW. Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease. HGG Adv. 2021 Jul 08;2(3). doi: 10.1016/j.xhgg.2021.100037. Epub 2021 Jul 29. PMID: 34888534; PMCID: PMC8653519.
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Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome.

HGG advances

Wakeling E, McEntagart M, Bruccoleri M, Shaw-Smith C, Stals KL, Wakeling M, Barnicoat A, Beesley C, Hanson-Kahn AK, Kukolich M, Stevenson DA, Campeau PM, Ellard S, Elsea SH, Yang XJ, Caswell RC.
PMID: 33537682
HGG Adv. 2021 Jan 14;2(1):100015. doi: 10.1016/j.xhgg.2020.100015.

Histone deacetylases play crucial roles in the regulation of chromatin structure and gene expression in the eukaryotic cell, and disruption of their activity causes a wide range of developmental disorders in humans. Loss-of-function alleles of

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Wakeling E, McEntagart M, Bruccoleri M, et al. Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome. HGG Adv. 2021;2(1):100015doi: 10.1016/j.xhgg.2020.100015.
Wakeling, E., McEntagart, M., Bruccoleri, M., Shaw-Smith, C., Stals, K. L., Wakeling, M., Barnicoat, A., Beesley, C., Hanson-Kahn, A. K., Kukolich, M., Stevenson, D. A., Campeau, P. M., Ellard, S., Elsea, S. H., Yang, X. J., & Caswell, R. C. (2021). Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome. HGG advances, 2(1), 100015. https://doi.org/10.1016/j.xhgg.2020.100015
Wakeling, Emma, et al. "Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome." HGG advances vol. 2,1 (2021): 100015. doi: https://doi.org/10.1016/j.xhgg.2020.100015
Wakeling E, McEntagart M, Bruccoleri M, Shaw-Smith C, Stals KL, Wakeling M, Barnicoat A, Beesley C, Hanson-Kahn AK, Kukolich M, Stevenson DA, Campeau PM, Ellard S, Elsea SH, Yang XJ, Caswell RC. Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome. HGG Adv. 2021 Jan 14;2(1):100015. doi: 10.1016/j.xhgg.2020.100015. PMID: 33537682; PMCID: PMC7841527.
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