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Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

European journal of human genetics : EJHG

Vrijenhoek T, Kraaijeveld K, Elferink M, de Ligt J, Kranendonk E, Santen G, Nijman IJ, Butler D, Claes G, Costessi A, Dorlijn W, van Eyndhoven W, Halley DJ, van den Hout MC, van Hove S, Johansson LF, Jongbloed JD, Kamps R, Kockx CE, de Koning B, Kriek M, Deprez RL, Lunstroo H, Mannens M, Mook OR, Nelen M, Ploem C, Rijnen M, Saris JJ, Sinke R, Sistermans E, van Slegtenhorst M, Sleutels F, van der Stoep N, van Tienhoven M, Vermaat M, Vogel M, Waisfisz Q, Weiss JM, van den Wijngaard A, van Workum W, Ijntema H, van der Zwaag B, van IJcken WF, den Dunnen JT, Veltman JA, Hennekam R, Cuppen E.
PMID: 26269248
Eur J Hum Genet. 2015 Sep;23(9):1270. doi: 10.1038/ejhg.2015.44.

No abstract available.

Cite
Vrijenhoek T, Kraaijeveld K, Elferink M, et al. Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects. Eur J Hum Genet. 2015;23(9):1270doi: 10.1038/ejhg.2015.44.
Vrijenhoek, T., Kraaijeveld, K., Elferink, M., de Ligt, J., Kranendonk, E., Santen, G., Nijman, I. J., Butler, D., Claes, G., Costessi, A., Dorlijn, W., van Eyndhoven, W., Halley, D. J., van den Hout, M. C., van Hove, S., Johansson, L. F., Jongbloed, J. D., Kamps, R., Kockx, C. E., de Koning, B., Kriek, M., Deprez, R. L., Lunstroo, H., Mannens, M., Mook, O. R., Nelen, M., Ploem, C., Rijnen, M., Saris, J. J., Sinke, R., Sistermans, E., van Slegtenhorst, M., Sleutels, F., van der Stoep, N., van Tienhoven, M., Vermaat, M., Vogel, M., Waisfisz, Q., Weiss, J. M., van den Wijngaard, A., van Workum, W., Ijntema, H., van der Zwaag, B., van IJcken, W. F., den Dunnen, J. T., Veltman, J. A., Hennekam, R., & Cuppen, E. (2015). Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects. European journal of human genetics : EJHG, 23(9), 1270. https://doi.org/10.1038/ejhg.2015.44
Vrijenhoek, Terry, et al. "Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects." European journal of human genetics : EJHG vol. 23,9 (2015): 1270. doi: https://doi.org/10.1038/ejhg.2015.44
Vrijenhoek T, Kraaijeveld K, Elferink M, de Ligt J, Kranendonk E, Santen G, Nijman IJ, Butler D, Claes G, Costessi A, Dorlijn W, van Eyndhoven W, Halley DJ, van den Hout MC, van Hove S, Johansson LF, Jongbloed JD, Kamps R, Kockx CE, de Koning B, Kriek M, Deprez RL, Lunstroo H, Mannens M, Mook OR, Nelen M, Ploem C, Rijnen M, Saris JJ, Sinke R, Sistermans E, van Slegtenhorst M, Sleutels F, van der Stoep N, van Tienhoven M, Vermaat M, Vogel M, Waisfisz Q, Weiss JM, van den Wijngaard A, van Workum W, Ijntema H, van der Zwaag B, van IJcken WF, den Dunnen JT, Veltman JA, Hennekam R, Cuppen E. Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects. Eur J Hum Genet. 2015 Sep;23(9):1270. doi: 10.1038/ejhg.2015.44. PMID: 26269248; PMCID: PMC4538204.
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Analysis of baseline and cisplatin-inducible gene expression in Fanconi anemia cells using oligonucleotide-based microarrays.

BMC blood disorders

Waisfisz Q, Miyazato A, De Winter JP, Liu JM, Joenje H.
PMID: 12450415
BMC Blood Disord. 2002 Nov 26;2(1):5. doi: 10.1186/1471-2326-2-5.

BACKGROUND: Patients with Fanconi anemia (FA) suffer from multiple defects, most notably of the hematological compartment (bone marrow failure), and susceptibility to cancer. Cells from FA patients show increased spontaneous chromosomal damage, which is aggravated by exposure to low...

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Waisfisz Q, Miyazato A, De Winter JP, et al. Analysis of baseline and cisplatin-inducible gene expression in Fanconi anemia cells using oligonucleotide-based microarrays. BMC Blood Disord. 2002;2(1):5doi: 10.1186/1471-2326-2-5.
Waisfisz, Q., Miyazato, A., De Winter, J. P., Liu, J. M., & Joenje, H. (2002). Analysis of baseline and cisplatin-inducible gene expression in Fanconi anemia cells using oligonucleotide-based microarrays. BMC blood disorders, 2(1), 5. https://doi.org/10.1186/1471-2326-2-5
Waisfisz, Quinten, et al. "Analysis of baseline and cisplatin-inducible gene expression in Fanconi anemia cells using oligonucleotide-based microarrays." BMC blood disorders vol. 2,1 (2002): 5. doi: https://doi.org/10.1186/1471-2326-2-5
Waisfisz Q, Miyazato A, De Winter JP, Liu JM, Joenje H. Analysis of baseline and cisplatin-inducible gene expression in Fanconi anemia cells using oligonucleotide-based microarrays. BMC Blood Disord. 2002 Nov 26;2(1):5. doi: 10.1186/1471-2326-2-5. PMID: 12450415; PMCID: PMC138804.
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Inactivating Mutations in GT198 in Familial and Early-Onset Breast and Ovarian Cancers.

Genes & cancer

Peng M, Bakker JL, Dicioccio RA, Gille JJ, Zhao H, Odunsi K, Sucheston L, Jaafar L, Mivechi NF, Waisfisz Q, Ko L.
PMID: 23946868
Genes Cancer. 2013 Jan;4(1):15-25. doi: 10.1177/1947601913486344.

The human GT198 gene (gene symbol PSMC3IP) is located at chromosome 17q21, 470 kb proximal to BRCA1, a locus previously linked to breast and ovarian cancer predisposition. Its protein product (also known as TBPIP and Hop2) has been shown...

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Peng M, Bakker JL, Dicioccio RA, et al. Inactivating Mutations in GT198 in Familial and Early-Onset Breast and Ovarian Cancers. Genes Cancer. 2013;4(1):15-25doi: 10.1177/1947601913486344.
Peng, M., Bakker, J. L., Dicioccio, R. A., Gille, J. J., Zhao, H., Odunsi, K., Sucheston, L., Jaafar, L., Mivechi, N. F., Waisfisz, Q., & Ko, L. (2013). Inactivating Mutations in GT198 in Familial and Early-Onset Breast and Ovarian Cancers. Genes & cancer, 4(1), 15-25. https://doi.org/10.1177/1947601913486344
Peng, Min, et al. "Inactivating Mutations in GT198 in Familial and Early-Onset Breast and Ovarian Cancers." Genes & cancer vol. 4,1 (2013): 15-25. doi: https://doi.org/10.1177/1947601913486344
Peng M, Bakker JL, Dicioccio RA, Gille JJ, Zhao H, Odunsi K, Sucheston L, Jaafar L, Mivechi NF, Waisfisz Q, Ko L. Inactivating Mutations in GT198 in Familial and Early-Onset Breast and Ovarian Cancers. Genes Cancer. 2013 Jan;4(1):15-25. doi: 10.1177/1947601913486344. PMID: 23946868; PMCID: PMC3743154.
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Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation.

NPJ genomic medicine

Ge X, Gong H, Dumas K, Litwin J, Phillips JJ, Waisfisz Q, Weiss MM, Hendriks Y, Stuurman KE, Nelson SF, Grody WW, Lee H, Kwok PY, Shieh JT.
PMID: 28868155
NPJ Genom Med. 2016;1. doi: 10.1038/npjgenmed.2016.36. Epub 2016 Oct 05.

Genomic sequence interpretation can miss clinically relevant missense variants for several reasons. Rare missense variants are numerous in the exome and difficult to prioritise. Affected genes may also not have existing disease association. To improve variant prioritisation, we leverage...

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Ge X, Gong H, Dumas K, et al. Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. NPJ Genom Med. 2016;1doi: 10.1038/npjgenmed.2016.36.
Ge, X., Gong, H., Dumas, K., Litwin, J., Phillips, J. J., Waisfisz, Q., Weiss, M. M., Hendriks, Y., Stuurman, K. E., Nelson, S. F., Grody, W. W., Lee, H., Kwok, P. Y., & Shieh, J. T. (2016). Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. NPJ genomic medicine, 1. https://doi.org/10.1038/npjgenmed.2016.36
Ge, Xiaoyan, et al. "Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation." NPJ genomic medicine vol. 1 (2016). doi: https://doi.org/10.1038/npjgenmed.2016.36
Ge X, Gong H, Dumas K, Litwin J, Phillips JJ, Waisfisz Q, Weiss MM, Hendriks Y, Stuurman KE, Nelson SF, Grody WW, Lee H, Kwok PY, Shieh JT. Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. NPJ Genom Med. 2016;1. doi: 10.1038/npjgenmed.2016.36. Epub 2016 Oct 05. PMID: 28868155; PMCID: PMC5576364.
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Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.

Genetics in medicine : official journal of the American College of Medical Genetics

Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, Pras-Raves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, Sell SL, Nowak CB, Douglas J, Tian C, Ulm E, Perlman S, Drack AV, Chong K, Martin N, Brault J, Brokamp E, Toro C, Gahl WA, Macnamara EF, Wolfe L, Waisfisz Q, Zwijnenburg PJG, Ziegler A, Barth M, Smith R, Ellingwood S, Gaebler-Spira D, Bakhtiari S, Kruer MC, van Kampen AHC, Wanders RJA, Waterham HR, Cassiman D, Vaz FM.
PMID: 34667295
Genet Med. 2021 Dec;23(12):2467. doi: 10.1038/s41436-021-01189-8.

No abstract available.

Cite
Ferdinandusse S, McWalter K, Te Brinke H, et al. Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. Genet Med. 2021;23(12):2467doi: 10.1038/s41436-021-01189-8.
Ferdinandusse, S., McWalter, K., Te Brinke, H., IJlst, L., Mooijer, P. M., Ruiter, J. P. N., van Lint, A. E. M., Pras-Raves, M., Wever, E., Millan, F., Guillen Sacoto, M. J., Begtrup, A., Tarnopolsky, M., Brady, L., Ladda, R. L., Sell, S. L., Nowak, C. B., Douglas, J., Tian, C., Ulm, E., Perlman, S., Drack, A. V., Chong, K., Martin, N., Brault, J., Brokamp, E., Toro, C., Gahl, W. A., Macnamara, E. F., Wolfe, L., Waisfisz, Q., Zwijnenburg, P. J. G., Ziegler, A., Barth, M., Smith, R., Ellingwood, S., Gaebler-Spira, D., Bakhtiari, S., Kruer, M. C., van Kampen, A. H. C., Wanders, R. J. A., Waterham, H. R., Cassiman, D., & Vaz, F. M. (2021). Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. Genetics in medicine : official journal of the American College of Medical Genetics, 23(12), 2467. https://doi.org/10.1038/s41436-021-01189-8
Ferdinandusse, Sacha, et al. "Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids." Genetics in medicine : official journal of the American College of Medical Genetics vol. 23,12 (2021): 2467. doi: https://doi.org/10.1038/s41436-021-01189-8
Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, Pras-Raves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, Sell SL, Nowak CB, Douglas J, Tian C, Ulm E, Perlman S, Drack AV, Chong K, Martin N, Brault J, Brokamp E, Toro C, Gahl WA, Macnamara EF, Wolfe L, Waisfisz Q, Zwijnenburg PJG, Ziegler A, Barth M, Smith R, Ellingwood S, Gaebler-Spira D, Bakhtiari S, Kruer MC, van Kampen AHC, Wanders RJA, Waterham HR, Cassiman D, Vaz FM. Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. Genet Med. 2021 Dec;23(12):2467. doi: 10.1038/s41436-021-01189-8. PMID: 34667295; PMCID: PMC8629751.
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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

American journal of human genetics

Ghosh SG, Becker K, Huang H, Salazar TD, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Weixler L, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG.
PMID: 34861176
Am J Hum Genet. 2021 Dec 02;108(12):2385. doi: 10.1016/j.ajhg.2021.11.013.

No abstract available.

Cite
Ghosh SG, Becker K, Huang H, et al. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am J Hum Genet. 2021;108(12):2385doi: 10.1016/j.ajhg.2021.11.013.
Ghosh, S. G., Becker, K., Huang, H., Salazar, T. D., Chai, G., Salpietro, V., Al-Gazali, L., Waisfisz, Q., Wang, H., Vaux, K. K., Stanley, V., Manole, A., Akpulat, U., Weiss, M. M., Efthymiou, S., Hanna, M. G., Minetti, C., Striano, P., Pisciotta, L., De Grandis, E., Altmüller, J., Weixler, L., Nürnberg, P., Thiele, H., Yis, U., Okur, T. D., Polat, A. I., Amiri, N., Doosti, M., Karimani, E. G., Toosi, M. B., Haddad, G., Karakaya, M., Wirth, B., van Hagen, J. M., Wolf, N. I., Maroofian, R., Houlden, H., Cirak, S., & Gleeson, J. G. (2021). Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. American journal of human genetics, 108(12), 2385. https://doi.org/10.1016/j.ajhg.2021.11.013
Ghosh, Shereen G, et al. "Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome." American journal of human genetics vol. 108,12 (2021): 2385. doi: https://doi.org/10.1016/j.ajhg.2021.11.013
Ghosh SG, Becker K, Huang H, Salazar TD, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Weixler L, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am J Hum Genet. 2021 Dec 02;108(12):2385. doi: 10.1016/j.ajhg.2021.11.013. PMID: 34861176; PMCID: PMC8715173.
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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

American journal of human genetics

Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG.
PMID: 30388405
Am J Hum Genet. 2018 Nov 01;103(5):826. doi: 10.1016/j.ajhg.2018.10.002.

No abstract available.

Cite
Ghosh SG, Becker K, Huang H, et al. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am J Hum Genet. 2018;103(5):826doi: 10.1016/j.ajhg.2018.10.002.
Ghosh, S. G., Becker, K., Huang, H., Dixon-Salazar, T., Chai, G., Salpietro, V., Al-Gazali, L., Waisfisz, Q., Wang, H., Vaux, K. K., Stanley, V., Manole, A., Akpulat, U., Weiss, M. M., Efthymiou, S., Hanna, M. G., Minetti, C., Striano, P., Pisciotta, L., De Grandis, E., Altmüller, J., Nürnberg, P., Thiele, H., Yis, U., Okur, T. D., Polat, A. I., Amiri, N., Doosti, M., Karimani, E. G., Toosi, M. B., Haddad, G., Karakaya, M., Wirth, B., van Hagen, J. M., Wolf, N. I., Maroofian, R., Houlden, H., Cirak, S., & Gleeson, J. G. (2018). Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. American journal of human genetics, 103(5), 826. https://doi.org/10.1016/j.ajhg.2018.10.002
Ghosh, Shereen G, et al. "Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome." American journal of human genetics vol. 103,5 (2018): 826. doi: https://doi.org/10.1016/j.ajhg.2018.10.002
Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am J Hum Genet. 2018 Nov 01;103(5):826. doi: 10.1016/j.ajhg.2018.10.002. PMID: 30388405; PMCID: PMC6218605.
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Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy.

Neuropediatrics

Al-Saady ML, Kaiser CS, Wakasuqui F, Korenke GC, Waisfisz Q, Polstra A, Pouwels PJW, Bugiani M, van der Knaap MS, Lunsing RJ, Liebau E, Wolf NI.
PMID: 33853163
Neuropediatrics. 2021 Dec;52(6):489-494. doi: 10.1055/s-0041-1724130. Epub 2021 Apr 14.

The enzyme ubiquitin-like modifier activating enzyme 5 (UBA5) plays an important role in activating ubiquitin-fold modifier 1 (UFM1) and its associated cascade.

Cite
Al-Saady ML, Kaiser CS, Wakasuqui F, et al. Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy. Neuropediatrics. 2021;52(6):489-494doi: 10.1055/s-0041-1724130.
Al-Saady, M. L., Kaiser, C. S., Wakasuqui, F., Korenke, G. C., Waisfisz, Q., Polstra, A., Pouwels, P. J. W., Bugiani, M., van der Knaap, M. S., Lunsing, R. J., Liebau, E., & Wolf, N. I. (2021). Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy. Neuropediatrics, 52(6), 489-494. https://doi.org/10.1055/s-0041-1724130
Al-Saady, Murtadha L, et al. "Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy." Neuropediatrics vol. 52,6 (2021): 489-494. doi: https://doi.org/10.1055/s-0041-1724130
Al-Saady ML, Kaiser CS, Wakasuqui F, Korenke GC, Waisfisz Q, Polstra A, Pouwels PJW, Bugiani M, van der Knaap MS, Lunsing RJ, Liebau E, Wolf NI. Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy. Neuropediatrics. 2021 Dec;52(6):489-494. doi: 10.1055/s-0041-1724130. Epub 2021 Apr 14. PMID: 33853163.
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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

American journal of human genetics

Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG.
PMID: 30100084
Am J Hum Genet. 2018 Sep 06;103(3):431-439. doi: 10.1016/j.ajhg.2018.07.010. Epub 2018 Aug 09.

ADP-ribosylation, the addition of poly-ADP ribose (PAR) onto proteins, is a response signal to cellular challenges, such as excitotoxicity or oxidative stress. This process is catalyzed by a group of enzymes referred to as poly(ADP-ribose) polymerases (PARPs). Because the...

Cite
Ghosh SG, Becker K, Huang H, et al. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am J Hum Genet. 2018;103(3):431-439doi: 10.1016/j.ajhg.2018.07.010.
Ghosh, S. G., Becker, K., Huang, H., Dixon-Salazar, T., Chai, G., Salpietro, V., Al-Gazali, L., Waisfisz, Q., Wang, H., Vaux, K. K., Stanley, V., Manole, A., Akpulat, U., Weiss, M. M., Efthymiou, S., Hanna, M. G., Minetti, C., Striano, P., Pisciotta, L., De Grandis, E., Altmüller, J., Nürnberg, P., Thiele, H., Yis, U., Okur, T. D., Polat, A. I., Amiri, N., Doosti, M., Karimani, E. G., Toosi, M. B., Haddad, G., Karakaya, M., Wirth, B., van Hagen, J. M., Wolf, N. I., Maroofian, R., Houlden, H., Cirak, S., & Gleeson, J. G. (2018). Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. American journal of human genetics, 103(3), 431-439. https://doi.org/10.1016/j.ajhg.2018.07.010
Ghosh, Shereen G, et al. "Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome." American journal of human genetics vol. 103,3 (2018): 431-439. doi: https://doi.org/10.1016/j.ajhg.2018.07.010
Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am J Hum Genet. 2018 Sep 06;103(3):431-439. doi: 10.1016/j.ajhg.2018.07.010. Epub 2018 Aug 09. PMID: 30100084; PMCID: PMC6128219.
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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

American journal of human genetics

Ghosh SG, Becker K, Huang H, Salazar TD, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Weixler L, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG.
PMID: 34861176
Am J Hum Genet. 2021 Dec 02;108(12):2385. doi: 10.1016/j.ajhg.2021.11.013.

No abstract available.

Cite
Ghosh SG, Becker K, Huang H, et al. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am J Hum Genet. 2021;108(12):2385doi: 10.1016/j.ajhg.2021.11.013.
Ghosh, S. G., Becker, K., Huang, H., Salazar, T. D., Chai, G., Salpietro, V., Al-Gazali, L., Waisfisz, Q., Wang, H., Vaux, K. K., Stanley, V., Manole, A., Akpulat, U., Weiss, M. M., Efthymiou, S., Hanna, M. G., Minetti, C., Striano, P., Pisciotta, L., De Grandis, E., Altmüller, J., Weixler, L., Nürnberg, P., Thiele, H., Yis, U., Okur, T. D., Polat, A. I., Amiri, N., Doosti, M., Karimani, E. G., Toosi, M. B., Haddad, G., Karakaya, M., Wirth, B., van Hagen, J. M., Wolf, N. I., Maroofian, R., Houlden, H., Cirak, S., & Gleeson, J. G. (2021). Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. American journal of human genetics, 108(12), 2385. https://doi.org/10.1016/j.ajhg.2021.11.013
Ghosh, Shereen G, et al. "Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome." American journal of human genetics vol. 108,12 (2021): 2385. doi: https://doi.org/10.1016/j.ajhg.2021.11.013
Ghosh SG, Becker K, Huang H, Salazar TD, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Weixler L, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am J Hum Genet. 2021 Dec 02;108(12):2385. doi: 10.1016/j.ajhg.2021.11.013. PMID: 34861176.
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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

American journal of human genetics

Ghosh SG, Becker K, Huang H, Salazar TD, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Weixler L, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG.
PMID: 34861176
Am J Hum Genet. 2021 Dec 02;108(12):2385. doi: 10.1016/j.ajhg.2021.11.013.

No abstract available.

Cite
Ghosh SG, Becker K, Huang H, et al. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am J Hum Genet. 2021;108(12):2385doi: 10.1016/j.ajhg.2021.11.013.
Ghosh, S. G., Becker, K., Huang, H., Salazar, T. D., Chai, G., Salpietro, V., Al-Gazali, L., Waisfisz, Q., Wang, H., Vaux, K. K., Stanley, V., Manole, A., Akpulat, U., Weiss, M. M., Efthymiou, S., Hanna, M. G., Minetti, C., Striano, P., Pisciotta, L., De Grandis, E., Altmüller, J., Weixler, L., Nürnberg, P., Thiele, H., Yis, U., Okur, T. D., Polat, A. I., Amiri, N., Doosti, M., Karimani, E. G., Toosi, M. B., Haddad, G., Karakaya, M., Wirth, B., van Hagen, J. M., Wolf, N. I., Maroofian, R., Houlden, H., Cirak, S., & Gleeson, J. G. (2021). Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. American journal of human genetics, 108(12), 2385. https://doi.org/10.1016/j.ajhg.2021.11.013
Ghosh, Shereen G, et al. "Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome." American journal of human genetics vol. 108,12 (2021): 2385. doi: https://doi.org/10.1016/j.ajhg.2021.11.013
Ghosh SG, Becker K, Huang H, Salazar TD, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Weixler L, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am J Hum Genet. 2021 Dec 02;108(12):2385. doi: 10.1016/j.ajhg.2021.11.013. PMID: 34861176; PMCID: PMC8715173.
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Altered PLP1 splicing causes hypomyelination of early myelinating structures.

Annals of clinical and translational neurology

Kevelam SH, Taube JR, van Spaendonk RM, Bertini E, Sperle K, Tarnopolsky M, Tonduti D, Valente EM, Travaglini L, Sistermans EA, Bernard G, Catsman-Berrevoets CE, van Karnebeek CD, Østergaard JR, Friederich RL, Fawzi Elsaid M, Schieving JH, Tarailo-Graovac M, Orcesi S, Steenweg ME, van Berkel CG, Waisfisz Q, Abbink TE, van der Knaap MS, Hobson GM, Wolf NI.
PMID: 26125040
Ann Clin Transl Neurol. 2015 Jun;2(6):648-61. doi: 10.1002/acn3.203. Epub 2015 May 01.

OBJECTIVE: The objective of this study was to investigate the genetic etiology of the X-linked disorder "Hypomyelination of Early Myelinating Structures" (HEMS).METHODS: We included 16 patients from 10 families diagnosed with HEMS by brain MRI criteria. Exome sequencing was...

Cite
Kevelam SH, Taube JR, van Spaendonk RM, et al. Altered PLP1 splicing causes hypomyelination of early myelinating structures. Ann Clin Transl Neurol. 2015;2(6):648-61doi: 10.1002/acn3.203.
Kevelam, S. H., Taube, J. R., van Spaendonk, R. M., Bertini, E., Sperle, K., Tarnopolsky, M., Tonduti, D., Valente, E. M., Travaglini, L., Sistermans, E. A., Bernard, G., Catsman-Berrevoets, C. E., van Karnebeek, C. D., Østergaard, J. R., Friederich, R. L., Fawzi Elsaid, M., Schieving, J. H., Tarailo-Graovac, M., Orcesi, S., Steenweg, M. E., van Berkel, C. G., Waisfisz, Q., Abbink, T. E., van der Knaap, M. S., Hobson, G. M., & Wolf, N. I. (2015). Altered PLP1 splicing causes hypomyelination of early myelinating structures. Annals of clinical and translational neurology, 2(6), 648-61. https://doi.org/10.1002/acn3.203
Kevelam, Sietske H, et al. "Altered PLP1 splicing causes hypomyelination of early myelinating structures." Annals of clinical and translational neurology vol. 2,6 (2015): 648-61. doi: https://doi.org/10.1002/acn3.203
Kevelam SH, Taube JR, van Spaendonk RM, Bertini E, Sperle K, Tarnopolsky M, Tonduti D, Valente EM, Travaglini L, Sistermans EA, Bernard G, Catsman-Berrevoets CE, van Karnebeek CD, Østergaard JR, Friederich RL, Fawzi Elsaid M, Schieving JH, Tarailo-Graovac M, Orcesi S, Steenweg ME, van Berkel CG, Waisfisz Q, Abbink TE, van der Knaap MS, Hobson GM, Wolf NI. Altered PLP1 splicing causes hypomyelination of early myelinating structures. Ann Clin Transl Neurol. 2015 Jun;2(6):648-61. doi: 10.1002/acn3.203. Epub 2015 May 01. PMID: 26125040; PMCID: PMC4479525.
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