Black Family Stem Cell Institute

Research output

Research output per year 1976 2015 2016 2017 2018 2019 2020 2021 2022 2023

• 168484 Citations
• 193 h-index
• 1859 Article
• 230 Review article
• 108 Comment/debate
• 75 Chapter
• 125 More
  • 37 Letter
  • 36 Short survey
  • 35 Editorial
  • 7 Conference contribution
  • 4 Foreword/postscript
  • 2 Book
  • 2 Conference article
  • 2 Preprint

Research output per year

Research output per year

Search results

• 2022

  A proof-of-concept study of growth hormone in children with Phelan–McDermid syndrome

  Sethuram, S., Levy, T., Foss-Feig, J., Halpern, D., Sandin, S., Siper, P. M., Walker, H., Buxbaum, J. D., Rapaport, R. & Kolevzon, A., Dec 2022, In: Molecular Autism. 13, 1, 6.

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

  Open Access

  • Proof of Concept Study 100%
  • Human Growth Hormone 83%
  • Growth Hormone 76%
  • Somatomedins 60%
  • Child 34%
  2 Scopus citations

• Clinical trial of insulin-like growth factor-1 in Phelan-McDermid syndrome

  Kolevzon, A., Breen, M. S., Siper, P. M., Halpern, D., Frank, Y., Rieger, H., Weismann, J., Trelles, M. P., Lerman, B., Rapaport, R. & Buxbaum, J. D., Dec 2022, In: Molecular Autism. 13, 1, 17.

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

  Open Access

  • Telomeric 22q13 Monosomy Syndrome 100%
  • Somatomedins 59%
  • Clinical Trials 36%
  • Autism Spectrum Disorder 21%
  • Health Care Outcome Assessment 13%
  5 Scopus citations

• European LeukemiaNet Response Predicts Disease Progression but Not Thrombosis in Polycythemia Vera

  Tremblay, D., Srisuwananukorn, A., Ronner, L., Podoltsev, N., Gotlib, J., Heaney, M. L., Kuykendall, A., O'Connell, C. L., Shammo, J. M., Fleischman, A., Mesa, R., Yacoub, A., Hoffman, R., Moshier, E., Zubizarreta, N. & Mascarenhas, J., 11 Jun 2022, In: HemaSphere. 6, 6, p. E721

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

  Open Access
  2 Scopus citations

• Phase 1/2 study of ixazomib with cyclophosphamide and dexamethasone in newly diagnosed AL amyloidosis

  Rosenbaum, C. A., Özbek, U., Sanchez, L., Lagdameo, J., Abrahams, A., Hassoun, H., Lahoud, O., Niesvizky, R., Landau, H. J. & Osman, K., 27 Sep 2022, In: Blood advances. 6, 18, p. 5436-5439 4 p.

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

  Open Access
• 2021

  Congenital Anemia Phenotypes Due to KLF1 Mutations

  Perkins, A. C. & Bieker, J., Jan 2021, In: Journal of Pediatric Hematology/Oncology. 43, 1, p. E148-E149

  Research output: Contribution to journal › Letter › peer-review
  1 Scopus citations

• Red cell distribution width is associated with mortality in non-anemic patients with COVID-19

  Rapp, J. L., Tremblay, D., Alpert, N., Lieberman-Cribbin, W., Mascarenhas, J., Taioli, E. & Ghaffari, S., Jul 2021, In: Journal of Medical Virology. 93, 7, p. 4130-4132 3 p.

  Research output: Contribution to journal › Letter › peer-review
  6 Scopus citations
• 2020

  circASXL1-1 regulates BAP1 deubiquitinase activity in leukemia

  Jadhav, S. P., Kumari, N., Ng, L., Tan, P. F., Ling Yeo-Teh, N. S., Goh, Y., Fam, W. N., Tng, J. Q., Tian, J. S., Koh, B. T. H., Chun, C. M., Wang, W., Chng, W. J., Fullwood, M. J., Guccione, E., Karnani, N., Tenen, D. G. & Jha, S., 1 Jul 2020, In: Haematologica. 105, 7, p. E343E348

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

  Open Access
  6 Scopus citations

• In Reply: Retention of ATRX and DAXX Expression in Meningiomas

  Gill, C. M., Loewenstern, J., Rutland, J. W., Arib, H., Pain, M., Umphlett, M., Kinoshita, Y., McBride, R. B., Bederson, J., Donovan, M., Sebra, R., Fowkes, M. & Shrivastava, R. K., 1 Feb 2020, In: Neurosurgery. 86, 2, p. E244-E246

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

  Open Access
  4 Scopus citations

• Not All Autism Genes Are Created Equal: A Response to Myers et al.

  Autism Sequencing Consortium, 5 Nov 2020, In: American Journal of Human Genetics. 107, 5, p. 1000-1003 4 p.

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

  Open Access
  6 Scopus citations

• Outcomes of splanchnic vein thrombosis in patients with myeloproliferative neoplasms in a single center experience

  Tremblay, D., Vogel, A. S., Moshier, E., Hoffman, R., Kremyanskaya, M., Zhou, S., Schiano, T. & Mascarenhas, J., 1 Jan 2020, In: European Journal of Haematology. 104, 1, p. 72-73 2 p.

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

• Prevalence and disease predisposition of p.A91V perforin in an aged population of European ancestry

  Voskoboinik, I., Lacaze, P., Jang, H. S. I., Flinsenberg, T., Fernando, S. L., Kerridge, I., Riaz, M., Sebra, R., Thia, K., Noori, T., Schadt, E. E., McNeil, J. J. & Trapani, J. A., 20 Feb 2020, In: Blood. 135, 8, p. 582-584 3 p.

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

  Open Access
  4 Scopus citations

• Sampling the host response to SARS-CoV-2 in hospitals under siege

  The Mount Sinai COVID-19 Biobank Team, 1 Aug 2020, In: Nature Medicine. 26, 8, p. 1157-1158 2 p.

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

  Open Access
  9 Scopus citations

• SF3B1 mutations induce R-loop accumulation and DNA damage in MDS and leukemia cells with therapeutic implications

  Singh, S., Ahmed, D., Dolatshad, H., Tatwavedi, D., Schulze, U., Sanchi, A., Ryley, S., Dhir, A., Carpenter, L., Watt, S. M., Roberts, D. J., Abdel-Aal, A. M., Sayed, S. K., Mohamed, S. A., Schuh, A., Vyas, P., Killick, S., Kotini, A. G., Papapetrou, E. P., Wiseman, D. H., & 2 othersPellagatti, A. & Boultwood, J., 1 Sep 2020, In: Leukemia. 34, 9, p. 2525-2530 6 p.

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

  Open Access
  30 Scopus citations

• Specific Modified mRNA Translation System

  Magadum, A., Kurian, A. A., Chepurko, E., Sassi, Y., Hajjar, R. J. & Zangi, L., 22 Dec 2020, In: Circulation. 142, 25, p. 2485-2488 4 p.

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

  Open Access
  7 Scopus citations
• 2019

  A prospective evaluation of pegylated interferon alfa-2a therapy in patients with polycythemia vera and essential thrombocythemia with a prior splanchnic vein thrombosis

  Mascarenhas, J., Kosiorek, H., Prchal, J., Yacoub, A., Berenzon, D., Baer, M. R., Ritchie, E., Silver, R. T., Kessler, C., Winton, E., Finazzi, M. C., Rambaldi, A., Vannucchi, A. M., Leibowitz, D., Rondelli, D., Arcasoy, M. O., Catchatourian, R., Vadakara, J., Rosti, V., Hexner, E., & 12 othersKremyanskaya, M., Sandy, L., Tripodi, J., Najfeld, V., Farnoud, N., Salama, M. E., Weinberg, R. S., Rampal, R., Goldberg, J. D., Mesa, R., Dueck, A. C. & Hoffman, R., 1 Dec 2019, In: Leukemia. 33, 12, p. 2974-2978 5 p.

  Research output: Contribution to journal › Letter › peer-review
  13 Scopus citations

• Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition

  Andelfinger, G., Marquis, C., Raboisson, M. J., Théoret, Y., Waldmüller, S., Wiegand, G., Gelb, B. D., Zenker, M., Delrue, M. A. & Hofbeck, M., 7 May 2019, In: Journal of the American College of Cardiology. 73, 17, p. 2237-2239 3 p.

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

  Open Access
  47 Scopus citations

• Phase II trial of Lestaurtinib, a JAK2 inhibitor, in patients with myelofibrosis

  Mascarenhas, J., Baer, M. R., Kessler, C., Hexner, E., Tremblay, D., Price, L., Sandy, L., Weinberg, R., Pahl, H., Silverman, L. R., Goldberg, J. D., Kosiorek, H., Dueck, A. C. & Hoffman, R., 16 Apr 2019, In: Leukemia and Lymphoma. 60, 5, p. 1343-1345 3 p.

  Research output: Contribution to journal › Letter › peer-review
  12 Scopus citations
• 2018

  Genomic characterization of spleens in patients with myelofibrosis

  Zimran, E., Tripodi, J., Rampal, R., Rappoport, F., Zirkiev, S., Hoffman, R. & Najfeld, V., 30 Sep 2018, In: Haematologica. 103, 10, p. e446-e449

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

  Open Access
  7 Scopus citations

• Multinodular and vacuolating neuronal tumor of the cerebrum is a clonal neoplasm defined by genetic alterations that activate the MAP kinase signaling pathway

  Pekmezci, M., Stevers, M., Phillips, J. J., Van Ziffle, J., Bastian, B. C., Tsankova, N. M., Kleinschmidt-DeMasters, B. K., Rosenblum, M. K., Tihan, T., Perry, A. & Solomon, D. A., 1 Mar 2018, In: Acta Neuropathologica. 135, 3, p. 485-488 4 p.

  Research output: Contribution to journal › Letter › peer-review
  38 Scopus citations
• 2015

  Activation of the Mitochondrial Fragmentation Protein DRP1 Correlates with BRAF V600E Melanoma

  Wieder, S. Y., Serasinghe, M. N., Sung, J. C., Choi, D. C., Birge, M. B., Yao, J. L., Bernstein, E., Celebi, J. T. & Chipuk, J. E., 14 Oct 2015, In: Journal of Investigative Dermatology. 135, 10, p. 2544-2547 4 p.

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

  Open Access
  44 Scopus citations

• Altered WNT Signaling in Human Induced Pluripotent Stem Cell Neural Progenitor Cells Derived from Four Schizophrenia Patients

  Topol, A., Zhu, S., Tran, N., Simone, A., Fang, G. & Brennand, K. J., 15 Sep 2015, In: Biological Psychiatry. 78, 6, p. e29-e34 12437.

  Research output: Contribution to journal › Letter › peer-review
  64 Scopus citations

• Dopaminergic differentiation of schizophrenia hiPSCs

  Hartley, B. J., Tran, N., Ladran, I., Reggio, K. & Brennand, K. J., 30 May 2015, In: Molecular Psychiatry. 20, 5, p. 549-550 2 p.

  Research output: Contribution to journal › Letter › peer-review
  18 Scopus citations
• 2014

  Anti-transforming growth factor-β therapy in patients with myelofibrosis

  Mascarenhas, J., Li, T., Sandy, L., Newsom, C., Petersen, B., Godbold, J. & Hoffman, R., Feb 2014, In: Leukemia and Lymphoma. 55, 2, p. 450-452 3 p.

  Research output: Contribution to journal › Letter › peer-review
  46 Scopus citations

• Decreased expression of the chromatin remodeler ATRX associates with melanoma progression

  Qadeer, Z. A., Harcharik, S., Valle-Garcia, D., Chen, C., Birge, M. B., Vardabasso, C., Duarte, L. F. & Bernstein, E., 2014, In: Journal of Investigative Dermatology. 134, 6, p. 1768-1772 5 p.

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

  Open Access
  21 Scopus citations

• Double-stranded DNA in exosomes: A novel biomarker in cancer detection

  Thakur, B. K., Zhang, H., Becker, A., Matei, I., Huang, Y., Costa-Silva, B., Zheng, Y., Hoshino, A., Brazier, H., Xiang, J., Williams, C., Rodriguez-Barrueco, R., Silva, J. M., Zhang, W., Hearn, S., Elemento, O., Paknejad, N., Manova-Todorova, K., Welte, K., Bromberg, J., & 2 othersPeinado, H. & Lyden, D., Jun 2014, In: Cell Research. 24, 6, p. 766-769 4 p.

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

  Open Access
  1087 Scopus citations
• 2013

  Advanced paternal age is associated with altered DNA methylation at brain-expressed imprinted loci in inbred mice: Implications for neuropsychiatric disease

  Smith, R. G., Reichenberg, A., Kember, R. L., Buxbaum, J. D., Schalkwyk, L. C., Fernandes, C. & Mill, J., Jun 2013, In: Molecular Psychiatry. 18, 6, p. 635-636 2 p.

  Research output: Contribution to journal › Letter › peer-review
  29 Scopus citations

• BCR-ABL1 is a secondary event after JAK2V617F in patients with polycythemia vera who develop chronic myeloid leukemia

  Wang, X., Tripodi, J., Kremyanskaya, M., Blouin, A., Roda, P., Hoffman, R. & Najfeld, V., 14 Feb 2013, In: Blood. 121, 7, p. 1238-1239 2 p.

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

  Open Access
  30 Scopus citations

• Hemichorea in a patient with JAK2V617F blood cells

  Lew, J., Frucht, S. J., Kremyanskaya, M., Hoffman, R. & Mascarenhas, J., 14 Feb 2013, In: Blood. 121, 7, p. 1239-1240 2 p.

  Research output: Contribution to journal › Letter › peer-review
  7 Scopus citations
• 2012

  RBC-transfusion guidelines update

  Gale, R. P., Barosi, G., Barbui, T., Cervantes, F., Dohner, K., Dupriez, B., Gupta, V., Harrison, C., Hoffman, R., Kiladjian, J. J., Mesa, R., Mc Mullin, M. F., Passamonti, F., Ribrag, V., Roboz, G., Saglio, G., Vannucchi, A. & Verstovsek, S., May 2012, In: Leukemia Research. 36, 5, p. 659-660 2 p.

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

• Response to Ott and Hoh

  Ionita-Laza, I. & Buxbaum, J. D., 2 Nov 2012, In: American Journal of Human Genetics. 91, 5, p. 970-971 2 p.

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

  Open Access

• The effect of an autism-associated polymorphism in the STK39 gene on the autism symptom domains

  Vavolizza, R. D., Schmeidler, J., Ramoz, N., Buxbaum, J. D., Smith, C. J. & Silverman, J. M., Feb 2012, In: Journal of Autism and Developmental Disorders. 42, 2, p. 319-320 2 p.

  Research output: Contribution to journal › Letter › peer-review
  1 Scopus citations
• 2011

  What are RBC-transfusion-dependence and -independence?

  Gale, R. P., Barosi, G., Barbui, T., Cervantes, F., Dohner, K., Dupriez, B., Gupta, V., Harrison, C., Hoffman, R., Kiladjian, J. J., Mesa, R., Mc Mullin, M. F., Passamonti, F., Ribrag, V., Roboz, G., Saglio, G., Vannucchi, A. & Verstovsek, S., Jan 2011, In: Leukemia Research. 35, 1, p. 8-11 4 p.

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

  • Erythropoiesis 100%
  • Survival 95%
  • Anemia 72%
  • Therapeutics 14%
  67 Scopus citations
• 2010

  Sensitive detection of MPLW515L/K mutations by amplification refractory mutation system (ARMS)-PCR

  Zhuge, J., Zhang, W., Xu, M., Hoffman, R. & Zhang, W., 4 Jan 2010, In: Clinica Chimica Acta. 411, 1-2, p. 122-123 2 p.

  Research output: Contribution to journal › Letter › peer-review
  14 Scopus citations
• 2008

  Modified vectors for the two-step directional cloning of inverted repeats for RNA interference in Drosophila

  Jenny, A. & Mlodzik, M., Mar 2008, In: BioTechniques. 44, 3, p. 335-339 5 p.

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

  Open Access
  2 Scopus citations

• Pulmonary extramedullary hematopoiesis in patients with myelofibrosis undergoing allogeneic stem cell transplantation

  Chunduri, S., Gaitonde, S., Ciurea, S. O., Hoffman, R. & Rondelli, D., Oct 2008, In: Haematologica. 93, 10, p. 1593-1595 3 p.

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

  Open Access
  15 Scopus citations
• 2005

  Bad papers (multiple letters)

  Krauss, R. S., Mole & Melino, G., 15 Mar 2005, In: Journal of Cell Science. 118, 6, p. 1103-1104 2 p.

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

• Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome.

  Lee, J. S., Tartaglia, M., Gelb, B. D., Fridrich, K., Sachs, S., Stratakis, C. A., Muenke, M., Robey, P. G., Collins, M. T. & Slavotinek, A., Feb 2005, In: Journal of Medical Genetics. 42, 2, p. e11

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

  Open Access
  61 Scopus citations