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Children's rare disease cohorts: an integrative research and clinical genomics initiative.

NPJ genomic medicine

Rockowitz S, LeCompte N, Carmack M, Quitadamo A, Wang L, Park M, Knight D, Sexton E, Smith L, Sheidley B, Field M, Holm IA, Brownstein CA, Agrawal PB, Kornetsky S, Poduri A, Snapper SB, Beggs AH, Yu TW, Williams DA, Sliz P.
PMID: 32655885
NPJ Genom Med. 2020 Jul 06;5:29. doi: 10.1038/s41525-020-0137-0. eCollection 2020.

While genomic data is frequently collected under distinct research protocols and disparate clinical and research regimes, there is a benefit in streamlining sequencing strategies to create harmonized databases, particularly in the area of pediatric rare disease. Research hospitals seeking...

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Rockowitz S, LeCompte N, Carmack M, et al. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020;5:29doi: 10.1038/s41525-020-0137-0.
Rockowitz, S., LeCompte, N., Carmack, M., Quitadamo, A., Wang, L., Park, M., Knight, D., Sexton, E., Smith, L., Sheidley, B., Field, M., Holm, I. A., Brownstein, C. A., Agrawal, P. B., Kornetsky, S., Poduri, A., Snapper, S. B., Beggs, A. H., Yu, T. W., Williams, D. A., & Sliz, P. (2020). Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ genomic medicine, 529. https://doi.org/10.1038/s41525-020-0137-0
Rockowitz, Shira, et al. "Children's rare disease cohorts: an integrative research and clinical genomics initiative." NPJ genomic medicine vol. 5 (2020): 29. doi: https://doi.org/10.1038/s41525-020-0137-0
Rockowitz S, LeCompte N, Carmack M, Quitadamo A, Wang L, Park M, Knight D, Sexton E, Smith L, Sheidley B, Field M, Holm IA, Brownstein CA, Agrawal PB, Kornetsky S, Poduri A, Snapper SB, Beggs AH, Yu TW, Williams DA, Sliz P. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020 Jul 06;5:29. doi: 10.1038/s41525-020-0137-0. eCollection 2020. PMID: 32655885; PMCID: PMC7338382.
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Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings.

Human genetics

Abbasi W, French CE, Rockowitz S, Kenna MA, Eliot Shearer A.
PMID: 34811589
Hum Genet. 2021 Nov 22; doi: 10.1007/s00439-021-02365-1. Epub 2021 Nov 22.

Structural variation includes a change in copy number, orientation, or location of a part of the genome. Copy number variants (CNVs) are a common cause of genetic hearing loss, comprising nearly 20% of diagnosed cases. While large deletions involving...

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Abbasi W, French CE, Rockowitz S, et al. Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings. Hum Genet. 2021;doi: 10.1007/s00439-021-02365-1.
Abbasi, W., French, C. E., Rockowitz, S., Kenna, M. A., & Eliot Shearer, A. (2021). Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings. Human genetics, . https://doi.org/10.1007/s00439-021-02365-1
Abbasi, Wafaa, et al. "Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings." Human genetics vol. (2021). doi: https://doi.org/10.1007/s00439-021-02365-1
Abbasi W, French CE, Rockowitz S, Kenna MA, Eliot Shearer A. Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings. Hum Genet. 2021 Nov 22; doi: 10.1007/s00439-021-02365-1. Epub 2021 Nov 22. PMID: 34811589.
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Children's Vulnerability to Sexual Violence During COVID-19 in Kenya: Recommendations for the Future.

Frontiers in global women's health

Stevens LM, Rockey JC, Rockowitz SR, Kanja W, Colloff MF, Flowe HD.
PMID: 34816191
Front Glob Womens Health. 2021 Feb 24;2:630901. doi: 10.3389/fgwh.2021.630901. eCollection 2021.

This article discusses the latest research that reveals that children seem to be facing new risks of sexual violence in Kenya during the COVID-19 pandemic. The evidence suggests there have been changes in patterns of sexual offenses against children...

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Stevens LM, Rockey JC, Rockowitz SR, et al. Children's Vulnerability to Sexual Violence During COVID-19 in Kenya: Recommendations for the Future. Front Glob Womens Health. 2021;2:630901doi: 10.3389/fgwh.2021.630901.
Stevens, L. M., Rockey, J. C., Rockowitz, S. R., Kanja, W., Colloff, M. F., & Flowe, H. D. (2021). Children's Vulnerability to Sexual Violence During COVID-19 in Kenya: Recommendations for the Future. Frontiers in global women's health, 2630901. https://doi.org/10.3389/fgwh.2021.630901
Stevens, Laura M, et al. "Children's Vulnerability to Sexual Violence During COVID-19 in Kenya: Recommendations for the Future." Frontiers in global women's health vol. 2 (2021): 630901. doi: https://doi.org/10.3389/fgwh.2021.630901
Stevens LM, Rockey JC, Rockowitz SR, Kanja W, Colloff MF, Flowe HD. Children's Vulnerability to Sexual Violence During COVID-19 in Kenya: Recommendations for the Future. Front Glob Womens Health. 2021 Feb 24;2:630901. doi: 10.3389/fgwh.2021.630901. eCollection 2021. PMID: 34816191; PMCID: PMC8593937.
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Pax6 associates with H3K4-specific histone methyltransferases Mll1, Mll2, and Set1a and regulates H3K4 methylation at promoters and enhancers.

Epigenetics & chromatin

Sun J, Zhao Y, McGreal R, Cohen-Tayar Y, Rockowitz S, Wilczek C, Ashery-Padan R, Shechter D, Zheng D, Cvekl A.
PMID: 27617035
Epigenetics Chromatin. 2016 Sep 09;9(1):37. doi: 10.1186/s13072-016-0087-z. eCollection 2016.

BACKGROUND: Pax6 is a key regulator of the entire cascade of ocular lens formation through specific binding to promoters and enhancers of batteries of target genes. The promoters and enhancers communicate with each other through DNA looping mediated by...

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Sun J, Zhao Y, McGreal R, et al. Pax6 associates with H3K4-specific histone methyltransferases Mll1, Mll2, and Set1a and regulates H3K4 methylation at promoters and enhancers. Epigenetics Chromatin. 2016;9(1):37doi: 10.1186/s13072-016-0087-z.
Sun, J., Zhao, Y., McGreal, R., Cohen-Tayar, Y., Rockowitz, S., Wilczek, C., Ashery-Padan, R., Shechter, D., Zheng, D., & Cvekl, A. (2016). Pax6 associates with H3K4-specific histone methyltransferases Mll1, Mll2, and Set1a and regulates H3K4 methylation at promoters and enhancers. Epigenetics & chromatin, 9(1), 37. https://doi.org/10.1186/s13072-016-0087-z
Sun, Jian, et al. "Pax6 associates with H3K4-specific histone methyltransferases Mll1, Mll2, and Set1a and regulates H3K4 methylation at promoters and enhancers." Epigenetics & chromatin vol. 9,1 (2016): 37. doi: https://doi.org/10.1186/s13072-016-0087-z
Sun J, Zhao Y, McGreal R, Cohen-Tayar Y, Rockowitz S, Wilczek C, Ashery-Padan R, Shechter D, Zheng D, Cvekl A. Pax6 associates with H3K4-specific histone methyltransferases Mll1, Mll2, and Set1a and regulates H3K4 methylation at promoters and enhancers. Epigenetics Chromatin. 2016 Sep 09;9(1):37. doi: 10.1186/s13072-016-0087-z. eCollection 2016. PMID: 27617035; PMCID: PMC5018195.
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Divergence and rewiring of regulatory networks for neural development between human and other species.

Neurogenesis (Austin, Tex.)

Wang P, Zhao D, Rockowitz S, Zheng D.
PMID: 27900343
Neurogenesis (Austin). 2016 Sep 19;3(1):e1231495. doi: 10.1080/23262133.2016.1231495. eCollection 2016.

Neural and brain development in human and other mammalian species are largely similar, but distinct features exist at the levels of macrostructure and underlying genetic control. Comparative studies of epigenetic regulation and transcription factor (TF) binding in humans, chimpanzees,...

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Wang P, Zhao D, Rockowitz S, et al. Divergence and rewiring of regulatory networks for neural development between human and other species. Neurogenesis (Austin). 2016;3(1):e1231495doi: 10.1080/23262133.2016.1231495.
Wang, P., Zhao, D., Rockowitz, S., & Zheng, D. (2016). Divergence and rewiring of regulatory networks for neural development between human and other species. Neurogenesis (Austin, Tex.), 3(1), e1231495. https://doi.org/10.1080/23262133.2016.1231495
Wang, Ping, et al. "Divergence and rewiring of regulatory networks for neural development between human and other species." Neurogenesis (Austin, Tex.) vol. 3,1 (2016): e1231495. doi: https://doi.org/10.1080/23262133.2016.1231495
Wang P, Zhao D, Rockowitz S, Zheng D. Divergence and rewiring of regulatory networks for neural development between human and other species. Neurogenesis (Austin). 2016 Sep 19;3(1):e1231495. doi: 10.1080/23262133.2016.1231495. eCollection 2016. PMID: 27900343; PMCID: PMC5111580.
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Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6.

American journal of hematology

Renella R, Gagne K, Beauchamp E, Fogel J, Perlov A, Sola M, Schlaeger T, Hofmann I, Shimamura A, Ebert BL, Schmitz-Abe K, Markianos K, Murphy K, Sun L, Rockowitz S, Sliz P, Campagna DR, Springer TA, Bahl C, Agarwal S, Fleming MD, Williams DA.
PMID: 34677878
Am J Hematol. 2021 Oct 22; doi: 10.1002/ajh.26382. Epub 2021 Oct 22.

Septins play key roles in mammalian cell division and cytokinesis but have not previously been implicated in a germline human disorder. A male infant with severe neutropenia and progressive dysmyelopoiesis with tetraploid myeloid precursors was identified. No known genetic...

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Renella R, Gagne K, Beauchamp E, et al. Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6. Am J Hematol. 2021;doi: 10.1002/ajh.26382.
Renella, R., Gagne, K., Beauchamp, E., Fogel, J., Perlov, A., Sola, M., Schlaeger, T., Hofmann, I., Shimamura, A., Ebert, B. L., Schmitz-Abe, K., Markianos, K., Murphy, K., Sun, L., Rockowitz, S., Sliz, P., Campagna, D. R., Springer, T. A., Bahl, C., Agarwal, S., Fleming, M. D., & Williams, D. A. (2021). Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6. American journal of hematology, . https://doi.org/10.1002/ajh.26382
Renella, Raffaele, et al. "Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6." American journal of hematology vol. (2021). doi: https://doi.org/10.1002/ajh.26382
Renella R, Gagne K, Beauchamp E, Fogel J, Perlov A, Sola M, Schlaeger T, Hofmann I, Shimamura A, Ebert BL, Schmitz-Abe K, Markianos K, Murphy K, Sun L, Rockowitz S, Sliz P, Campagna DR, Springer TA, Bahl C, Agarwal S, Fleming MD, Williams DA. Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6. Am J Hematol. 2021 Oct 22; doi: 10.1002/ajh.26382. Epub 2021 Oct 22. PMID: 34677878.
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Dual-vector gene therapy restores cochlear amplification and auditory sensitivity in a mouse model of DFNB16 hearing loss.

Science advances

Shubina-Oleinik O, Nist-Lund C, French C, Rockowitz S, Shearer AE, Holt JR.
PMID: 34910522
Sci Adv. 2021 Dec 17;7(51):eabi7629. doi: 10.1126/sciadv.abi7629. Epub 2021 Dec 15.

[Figure: see text].

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Shubina-Oleinik O, Nist-Lund C, French C, et al. Dual-vector gene therapy restores cochlear amplification and auditory sensitivity in a mouse model of DFNB16 hearing loss. Sci Adv. 2021;7(51):eabi7629doi: 10.1126/sciadv.abi7629.
Shubina-Oleinik, O., Nist-Lund, C., French, C., Rockowitz, S., Shearer, A. E., & Holt, J. R. (2021). Dual-vector gene therapy restores cochlear amplification and auditory sensitivity in a mouse model of DFNB16 hearing loss. Science advances, 7(51), eabi7629. https://doi.org/10.1126/sciadv.abi7629
Shubina-Oleinik, Olga, et al. "Dual-vector gene therapy restores cochlear amplification and auditory sensitivity in a mouse model of DFNB16 hearing loss." Science advances vol. 7,51 (2021): eabi7629. doi: https://doi.org/10.1126/sciadv.abi7629
Shubina-Oleinik O, Nist-Lund C, French C, Rockowitz S, Shearer AE, Holt JR. Dual-vector gene therapy restores cochlear amplification and auditory sensitivity in a mouse model of DFNB16 hearing loss. Sci Adv. 2021 Dec 17;7(51):eabi7629. doi: 10.1126/sciadv.abi7629. Epub 2021 Dec 15. PMID: 34910522; PMCID: PMC8673757.
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A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.

HGG advances

Parikh JR, Genetti CA, Aykanat A, Brownstein CA, Schmitz-Abe K, Danowski M, Quitadomo A, Madden JA, Yacoubian C, Gain R, Williams T, Meskell M, Brown A, Frith A, Rockowitz S, Sliz P, Agrawal PB, Defay T, McDonagh P, Reynders J, Lefebvre S, Beggs AH.
PMID: 34514437
HGG Adv. 2021 Jul;2(3). doi: 10.1016/j.xhgg.2021.100035. Epub 2021 May 11.

Effective genetic diagnosis requires the correlation of genetic variant data with detailed phenotypic information. However, manual encoding of clinical data into machine-readable forms is laborious and subject to observer bias. Natural language processing (NLP) of electronic health records has...

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Parikh JR, Genetti CA, Aykanat A, et al. A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders. HGG Adv. 2021;2(3)doi: 10.1016/j.xhgg.2021.100035.
Parikh, J. R., Genetti, C. A., Aykanat, A., Brownstein, C. A., Schmitz-Abe, K., Danowski, M., Quitadomo, A., Madden, J. A., Yacoubian, C., Gain, R., Williams, T., Meskell, M., Brown, A., Frith, A., Rockowitz, S., Sliz, P., Agrawal, P. B., Defay, T., McDonagh, P., Reynders, J., Lefebvre, S., & Beggs, A. H. (2021). A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders. HGG advances, 2(3), . https://doi.org/10.1016/j.xhgg.2021.100035
Parikh, Jignesh R, et al. "A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders." HGG advances vol. 2,3 (2021). doi: https://doi.org/10.1016/j.xhgg.2021.100035
Parikh JR, Genetti CA, Aykanat A, Brownstein CA, Schmitz-Abe K, Danowski M, Quitadomo A, Madden JA, Yacoubian C, Gain R, Williams T, Meskell M, Brown A, Frith A, Rockowitz S, Sliz P, Agrawal PB, Defay T, McDonagh P, Reynders J, Lefebvre S, Beggs AH. A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders. HGG Adv. 2021 Jul;2(3). doi: 10.1016/j.xhgg.2021.100035. Epub 2021 May 11. PMID: 34514437; PMCID: PMC8432593.
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A synonymous coding variant that alters ALAS2 splicing and causes X-linked sideroblastic anemia.

Pediatric blood & cancer

Oakley JH, Campagna DR, Sun L, Rockowitz S, Sliz P, Boudreaux J, Woods G, Fleming MD.
PMID: 34411431
Pediatr Blood Cancer. 2022 Jan;69(1):e29309. doi: 10.1002/pbc.29309. Epub 2021 Aug 19.

No abstract available.

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Oakley JH, Campagna DR, Sun L, et al. A synonymous coding variant that alters ALAS2 splicing and causes X-linked sideroblastic anemia. Pediatr Blood Cancer. 2021;69(1):e29309doi: 10.1002/pbc.29309.
Oakley, J. H., Campagna, D. R., Sun, L., Rockowitz, S., Sliz, P., Boudreaux, J., Woods, G., & Fleming, M. D. (2022). A synonymous coding variant that alters ALAS2 splicing and causes X-linked sideroblastic anemia. Pediatric blood & cancer, 69(1), e29309. https://doi.org/10.1002/pbc.29309
Oakley, Jamie Heather, et al. "A synonymous coding variant that alters ALAS2 splicing and causes X-linked sideroblastic anemia." Pediatric blood & cancer vol. 69,1 (2022): e29309. doi: https://doi.org/10.1002/pbc.29309
Oakley JH, Campagna DR, Sun L, Rockowitz S, Sliz P, Boudreaux J, Woods G, Fleming MD. A synonymous coding variant that alters ALAS2 splicing and causes X-linked sideroblastic anemia. Pediatr Blood Cancer. 2022 Jan;69(1):e29309. doi: 10.1002/pbc.29309. Epub 2021 Aug 19. PMID: 34411431.
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Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6.

American journal of hematology

Renella R, Gagne K, Beauchamp E, Fogel J, Perlov A, Sola M, Schlaeger T, Hofmann I, Shimamura A, Ebert BL, Schmitz-Abe K, Markianos K, Murphy K, Sun L, Rockowitz S, Sliz P, Campagna DR, Springer TA, Bahl C, Agarwal S, Fleming MD, Williams DA.
PMID: 34677878
Am J Hematol. 2022 Jan 01;97(1):18-29. doi: 10.1002/ajh.26382. Epub 2021 Nov 03.

Septins play key roles in mammalian cell division and cytokinesis but have not previously been implicated in a germline human disorder. A male infant with severe neutropenia and progressive dysmyelopoiesis with tetraploid myeloid precursors was identified. No known genetic...

Cite
Renella R, Gagne K, Beauchamp E, et al. Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6. Am J Hematol. 2021;97(1):18-29doi: 10.1002/ajh.26382.
Renella, R., Gagne, K., Beauchamp, E., Fogel, J., Perlov, A., Sola, M., Schlaeger, T., Hofmann, I., Shimamura, A., Ebert, B. L., Schmitz-Abe, K., Markianos, K., Murphy, K., Sun, L., Rockowitz, S., Sliz, P., Campagna, D. R., Springer, T. A., Bahl, C., Agarwal, S., Fleming, M. D., & Williams, D. A. (2022). Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6. American journal of hematology, 97(1), 18-29. https://doi.org/10.1002/ajh.26382
Renella, Raffaele, et al. "Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6." American journal of hematology vol. 97,1 (2022): 18-29. doi: https://doi.org/10.1002/ajh.26382
Renella R, Gagne K, Beauchamp E, Fogel J, Perlov A, Sola M, Schlaeger T, Hofmann I, Shimamura A, Ebert BL, Schmitz-Abe K, Markianos K, Murphy K, Sun L, Rockowitz S, Sliz P, Campagna DR, Springer TA, Bahl C, Agarwal S, Fleming MD, Williams DA. Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6. Am J Hematol. 2022 Jan 01;97(1):18-29. doi: 10.1002/ajh.26382. Epub 2021 Nov 03. PMID: 34677878.
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Dual-vector gene therapy restores cochlear amplification and auditory sensitivity in a mouse model of DFNB16 hearing loss.

Science advances

Shubina-Oleinik O, Nist-Lund C, French C, Rockowitz S, Shearer AE, Holt JR.
PMID: 34910522
Sci Adv. 2021 Dec 17;7(51):eabi7629. doi: 10.1126/sciadv.abi7629. Epub 2021 Dec 15.

[Figure: see text].

Cite
Shubina-Oleinik O, Nist-Lund C, French C, et al. Dual-vector gene therapy restores cochlear amplification and auditory sensitivity in a mouse model of DFNB16 hearing loss. Sci Adv. 2021;7(51):eabi7629doi: 10.1126/sciadv.abi7629.
Shubina-Oleinik, O., Nist-Lund, C., French, C., Rockowitz, S., Shearer, A. E., & Holt, J. R. (2021). Dual-vector gene therapy restores cochlear amplification and auditory sensitivity in a mouse model of DFNB16 hearing loss. Science advances, 7(51), eabi7629. https://doi.org/10.1126/sciadv.abi7629
Shubina-Oleinik, Olga, et al. "Dual-vector gene therapy restores cochlear amplification and auditory sensitivity in a mouse model of DFNB16 hearing loss." Science advances vol. 7,51 (2021): eabi7629. doi: https://doi.org/10.1126/sciadv.abi7629
Shubina-Oleinik O, Nist-Lund C, French C, Rockowitz S, Shearer AE, Holt JR. Dual-vector gene therapy restores cochlear amplification and auditory sensitivity in a mouse model of DFNB16 hearing loss. Sci Adv. 2021 Dec 17;7(51):eabi7629. doi: 10.1126/sciadv.abi7629. Epub 2021 Dec 15. PMID: 34910522.
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Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6.

American journal of hematology

Renella R, Gagne K, Beauchamp E, Fogel J, Perlov A, Sola M, Schlaeger T, Hofmann I, Shimamura A, Ebert BL, Schmitz-Abe K, Markianos K, Murphy K, Sun L, Rockowitz S, Sliz P, Campagna DR, Springer TA, Bahl C, Agarwal S, Fleming MD, Williams DA.
PMID: 34677878
Am J Hematol. 2022 Jan 01;97(1):18-29. doi: 10.1002/ajh.26382. Epub 2021 Nov 03.

Septins play key roles in mammalian cell division and cytokinesis but have not previously been implicated in a germline human disorder. A male infant with severe neutropenia and progressive dysmyelopoiesis with tetraploid myeloid precursors was identified. No known genetic...

Cite
Renella R, Gagne K, Beauchamp E, et al. Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6. Am J Hematol. 2021;97(1):18-29doi: 10.1002/ajh.26382.
Renella, R., Gagne, K., Beauchamp, E., Fogel, J., Perlov, A., Sola, M., Schlaeger, T., Hofmann, I., Shimamura, A., Ebert, B. L., Schmitz-Abe, K., Markianos, K., Murphy, K., Sun, L., Rockowitz, S., Sliz, P., Campagna, D. R., Springer, T. A., Bahl, C., Agarwal, S., Fleming, M. D., & Williams, D. A. (2022). Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6. American journal of hematology, 97(1), 18-29. https://doi.org/10.1002/ajh.26382
Renella, Raffaele, et al. "Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6." American journal of hematology vol. 97,1 (2022): 18-29. doi: https://doi.org/10.1002/ajh.26382
Renella R, Gagne K, Beauchamp E, Fogel J, Perlov A, Sola M, Schlaeger T, Hofmann I, Shimamura A, Ebert BL, Schmitz-Abe K, Markianos K, Murphy K, Sun L, Rockowitz S, Sliz P, Campagna DR, Springer TA, Bahl C, Agarwal S, Fleming MD, Williams DA. Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6. Am J Hematol. 2022 Jan 01;97(1):18-29. doi: 10.1002/ajh.26382. Epub 2021 Nov 03. PMID: 34677878; PMCID: PMC8671325.
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