Bio

Bio


I am a fellow physician specializing in hematology and oncology. I spend my time directly caring for patients, advocating for them as a medical journalist, and researching ways to improve their lives.

My research focus is in hematological malignancies. I explore questions relating to clinical outcomes, quality of life, end-of-life communication, and novel therapeutics in acute leukemias.

As a writer, I strive to bridge the gaps between academic medicine and everyday lives. I am a former AAAS Mass Media Fellow, and as a medical student I created and wrote a blog column at Scientific American on the thoughts of a trainee. I now write the Hard Questions column at Hematology News. My writing has also appeared in Undark Magazine, Health Affairs, STAT News, Aeon Magazine, Science Progress, and The News & Observer and has been republished in The Atlantic and The Best American Science and Nature Writing 2019 anthology.

I have an academic interest in bioethics. I interned with the Presidential Commission for the Study of Bioethical Issues, and I have done ethics research on return of incidental findings and physicians’ interpretations of code statuses. My ethics papers have been published in the New England Journal of Medicine, Penn Bioethics Journal, and Ivy Journal of Ethics.

I’ve also done research in genomics and bioinformatics and the use of telemedicine to augment subspecialty care.

Above all else, I am passionate about providing thoughtful, compassionate, and holistic care for my patients.

Clinical Focus


  • Hematology
  • Oncology
  • Bioethics
  • Fellow

Honors & Awards


  • Publication, The Best American Science and Nature Writing (2019)
  • Profiled, Department of Medicine newsletter, Stanford Health Care (2017)
  • Second Place Winner, Resident Abstract Competition, ACP Northern California Chapter Meeting (2017)
  • Profiled, MedTech Boston (2015)
  • Invited speaker, AMA annual meeting (2014)
  • Profiled, The Scientific American Incubator (2013)
  • Publication, The Best Science Writing Online anthology (2013)
  • Interviewed, "White Coat, Black Art," Canadian Broadcasting Corporation radio documentary series (2012)
  • Profiled, newsletter, Harvard Medical School (2012)
  • Mass Media Science and Engineering Fellowship, AAAS (2010)
  • Fellowship for Research in Health Studies, Yale University (2009)
  • Phi Beta Kappa, Yale University (2009)
  • Future Scientist Fellowship, Yale-HHMI (2008)
  • All-USA Academic First Team, USA Today (2006)
  • Finalist, National Merit (2006)
  • Semifinalist, Intel Science Talent Search (2006)
  • Semifinalist, Siemens Westinghouse (2005)

Boards, Advisory Committees, Professional Organizations


  • Editorial Advisory Board Member, Hematology News (2018 - Present)
  • Associate Member, American Society of Clinical Oncology (ASCO) (2017 - Present)
  • Associate Member, American Society of Hematology (ASH) (2017 - Present)
  • Class Representative, Stanford Internal Medicine Committee for Residency Reform (CRR) (2017 - 2018)
  • Internal Medicine Representative, Stanford Women in Medicine Leadership Council (2017 - 2018)
  • Team Leader, Resident Safety Council, Stanford Health Care (2016 - 2017)
  • Founder, Lean In Circle, Stanford Medicine (2015 - Present)
  • Member, Ethics Committee, Stanford Hospital (2015 - Present)
  • Member, American College of Physicians (ACP) (2015 - Present)
  • Member, Women in Medicine, Stanford Internal Medicine (2015 - 2018)
  • Member, Biodesign and Innovation Pathway of Distinction (POD), Stanford Internal Medicine (2015 - 2018)
  • Student Co-Chair, American Medical Association / Massachusetts Medical Society, Harvard Chapter (2011 - 2012)
  • Student Co-Leader, Writers' Group, Harvard Medical School (2011 - 2012)
  • Student Member, Ethics Committee, Boston Children’s Hospital, Harvard Medical School (2011 - 2012)
  • Intern, Presidential Commission for the Study of Bioethical Issues (2011 - 2011)

Professional Education


  • Residency, Stanford Health Care, Internal Medicine (2018)
  • M.D., Harvard Medical School (2015)
  • B.S., Yale University, Molecular, Cellular, & Developmental Biology (2010)

Publications

All Publications


  • Real-world outcomes of adult B-cell acute lymphocytic leukemia patients treated with blinatumomab. Blood advances Badar, T., Szabo, A., Advani, A., Wadleigh, M., Arslan, S., Khan, M. A., Aldoss, I., Siebenaller, C., Schultz, E., Hefazi, M., Shallis, R. M., Yurkiewicz, I., Podoltsev, N., Patel, A. A., Curran, E., Balasubramanian, S., Yang, J., Mattison, R. J., Burkart, M., Dinner, S., Liedtke, M., Litzow, M. R., Atallah, E. 2020; 4 (10): 2308–16

    Abstract

    The availability and use of blinatumomab symbolizes a paradigm shift in the management of B-cell acute lymphoblastic leukemia (ALL). We conducted a retrospective multicenter cohort analysis of 239 ALL patients (227 relapsed refractory [RR], n = 227; minimal residual disease [MRD], n = 12) who received blinatumomab outside of clinical trials to evaluate safety and efficacy in the "real-world" setting. The median age of patients at blinatumomab initiation was 48 years (range, 18-85). Sixty-one (26%) patients had ≥3 prior therapies and 46 (19%) had allogeneic hematopoietic cell transplantation before blinatumomab. The response rate (complete remission/complete remission with incomplete count recovery) in patients with RR disease was 65% (47% MRD-). Among 12 patients who received blinatumomab for MRD, 9 (75%) patients achieved MRD negativity. In patients with RR disease, median relapse-free survival and overall survival (OS) after blinatumomab was 32 months and 12.7 months, respectively. Among patients who received blinatumomab for MRD, median relapse-free survival was not reached (54% MRD- at 2 years) and OS was 34.7 months. Grade ≥3 cytokine release syndrome, neurotoxicity, and hepatotoxicity were observed in 3%, 7%, and 10% of patients, respectively. Among patients who achieved complete remission/complete remission with incomplete count recovery, consolidation therapy with allogeneic hematopoietic cell transplantation retained favorable prognostic significance for OS (hazard ratio, 0.54; 95% confidence interval, 0.30-0.97; P = .04). In this largest "real-world" experience published to date, blinatumomab demonstrated responses comparable to those reported in clinical trials. The optimal sequencing of newer therapies in ALL requires further study.

    View details for DOI 10.1182/bloodadvances.2019001381

    View details for PubMedID 32453836

  • Hematopoietic Cell Transplantation for Philadelphia Chromosome Negative Adult Acute Lymphoblastic Leukemia in the Modern Era of Immune Therapy. Current hematologic malignancy reports Yurkiewicz, I., Craig, J., Muffly, L. 2020

    Abstract

    PURPOSE OF REVIEW: This review will discuss the data and controversies related to HCT in the front-line and relapsed/refractory setting in the context of newly available targeted immunotherapies.RECENT FINDINGS: Recent studies in adult Ph-negative ALL support the use of measurable residual disease (MRD) response to front-line therapy to guide consolidation. As such, most MRD-negative patients do not require front-line HCT. Blinatumomab benefits patients with B-ALL with MRD+ complete response (CR) and can be used as a bridge to HCT; whether HCT is still required in this setting is an area of ongoing inquiry. Blinatumomab and inotuzumab result in high rates of MRD negative CR in adults with relapsed/refractory ALL and allow more patients with relapsed disease to receive HCT. Chimeric antigen receptor T cell (CAR-T) therapies may serve as a bridge to HCT or as a stand-alone therapy for relapsed/refractory patients; data suggests there may be greater benefit to consolidating CAR-T with HCT in HCT-naive adults. The decision to incorporate consolidative allogeneic HCT into front-line therapy should be primarily guided by MRD status and the ALL regimen utilized. Targeted immunotherapies result in high MRD-negative CR rates, allowing more adults with relapsed/refractory ALL to be successfully bridged to HCT; early incorporation of these therapies may also prove valuable in reducing the need for HCT in the front-line setting by increasing MRD negative CR rates.

    View details for DOI 10.1007/s11899-020-00579-0

    View details for PubMedID 32358681

  • Clinical Outcome with Allogeneic Hematopoietic Stem Cell Transplantation after Blinatumomab or Inotuzumab Ozogamicin in Patients with B-Cell Acute Lymphoblastic Leukemia: Real World Experience Badar, T., Advani, A. S., Liedtke, M., Arslan, S., Khan, M., Aldoss, I., Sienbenaller, C., Schultz, E., Hefazi, M., Shallis, R., Yurkiewicz, I., Podoltsev, N., Patel, A., Curran, E., Kuo, E., Wang, A., Balasubramanian, S., Yang, J., Mattison, R., Burkart, M., Dinner, S., Litzow, M. R., Wadleigh, M., Atallah, E. ELSEVIER SCIENCE INC. 2020: S101–S102
  • Therapy-related acute lymphoblastic leukemia is a distinct entity with adverse genetic features and clinical outcomes. Blood advances Saygin, C., Kishtagari, A., Cassaday, R. D., Reizine, N., Yurkiewicz, I., Liedtke, M., Stock, W., Larson, R. A., Levine, R. L., Tallman, M. S., Park, J. H., Kerr, C., Przychodzen, B., Sekeres, M. A., Kalaycio, M. E., Carraway, H. E., Hamilton, B. K., Sobecks, R., Gerds, A., Mukherjee, S., Nazha, A., Maciejewski, J. P., Advani, A. S. 2019; 3 (24): 4228–37

    Abstract

    Patients with therapy-related acute lymphoblastic leukemia (t-ALL) represent a small subset of acute lymphoblastic leukemia (ALL) patients who received genotoxic therapy (ie, chemotherapy or radiation) for a prior malignancy. These patients should be distinguished from patients with de novo ALL (dn-ALL) and ALL patients who have a history of prior malignancy but have not received cytotoxic therapies in the past (acute lymphoblastic leukemia with prior malignancy [pm-ALL]). We report a retrospective multi-institutional study of patients with t-ALL (n = 116), dn-ALL (n = 100), and pm-ALL (n = 20) to investigate the impact of prior cytotoxic therapies on clinical outcomes. Compared with patients with pm-ALL, t-ALL patients had a significantly shorter interval between the first malignancy and ALL diagnosis and a higher frequency of poor-risk cytogenetic features, including KMT2A rearrangements and myelodysplastic syndrome-like abnormalities (eg, monosomal karyotype). We observed a variety of mutations among t-ALL patients, with the majority of patients exhibiting mutations that were more common with myeloid malignancies (eg, DNMT3A, RUNX1, ASXL1), whereas others had ALL-type mutations (eg, CDKN2A, IKZF1). Median overall survival was significantly shorter in the t-ALL cohort compared with patients with dn-ALL or pm-ALL. Patients who were eligible for hematopoietic cell transplantation had improved long-term survival. Collectively, our results support t-ALL as a distinct entity based on its biologic and clinical features.

    View details for DOI 10.1182/bloodadvances.2019000925

    View details for PubMedID 31869410

  • Behind the Scenes of a Radical New Cancer Cure Yurkiewicz, I. Undark. 2019
  • Effect of Fitbit and iPad Wearable Technology in Health-Related Quality of Life in Adolescent and Young Adult Cancer Patients JOURNAL OF ADOLESCENT AND YOUNG ADULT ONCOLOGY Yurkiewicz, I. R., Simon, P., Liedtke, M., Dahl, G., Dunn, T. 2018; 7 (5): 579–83
  • Paper Trails: Living and Dying With Fragmented Medical Records Yurkiewicz, I. Undark. 2018

    Abstract

    Every year, an untold number of patients undergo duplicate procedures — or fail to get them at all — because key pieces of their medical history are missing. Why?

  • Inotuzumab ozogamicin: a CD22 mAb-drug conjugate for adult relapsed or refractory B-cell precursor acute lymphoblastic leukemia DRUG DESIGN DEVELOPMENT AND THERAPY Yurkiewicz, I. R., Muffly, L., Liedtke, M. 2018; 12: 2293–2300

    Abstract

    Despite improved rates of remission and cure in newly diagnosed adult acute lymphoblastic leukemia (ALL), the prognosis for patients with relapsed or refractory disease remains poor and the 5-year overall survival rate after relapse is under 10%. A recent paradigm shift has focused on the promise of targeted immunotherapy rather than standard chemotherapy, as ALL blast cells express a variety of antigens, and monoclonal antibodies may be developed to identify and destroy the leukemic cells. Inotuzumab ozogamicin is a CD22 monoclonal antibody conjugated to the cytotoxic antibiotic calicheamicin. CD22 expression is detected on leukemic blasts in over 90% of patients with ALL. Based on promising results from preclinical studies, inotuzumab ozogamicin was tested in Phase 1/2 and Phase 3 clinical trials and it demonstrated improved complete remission rates, progression-free survival and overall survival in relapsed or refractory adult ALL compared to standard therapy. Ongoing studies are evaluating the value of inotuzumab ozogamicin when given in combination with chemotherapy as part of upfront treatment. This review discusses the drug's biochemical properties and mechanism of action, preclinical research outcomes, clinical trial results, adverse events and toxicities, drug approval and ongoing investigations.

    View details for PubMedID 30087554

  • Complicated: Medical Missteps Are Not Inevitable. Health affairs (Project Hope) Yurkiewicz, I. R. 2018; 37 (7): 1178–81

    Abstract

    Much of the time, care teams react to complications instead of preventing them. A doctor calls on the medical system to take responsibility.

    View details for DOI 10.1377/hlthaff.2017.1550

    View details for PubMedID 29985700

  • Anaplastic Thyroid Cancer With Extensive Skeletal Muscle Metastases on 18F-FDG PET/CT. Clinical nuclear medicine Yurkiewicz, I. R., Ganjoo, K. N., Iagaru, A. 2018

    Abstract

    A 61-year-old woman with newly diagnosed anaplastic thyroid cancer and known metastases to the brain, lungs, and adrenal glands complained of groin muscle pain. F-FDG PET/CT was performed to assess for extent of disease and showed extensive hypermetabolic lesions throughout the skeletal musculature concerning for metastatic disease. As this would be a very rare presentation for anaplastic thyroid carcinoma, a biopsy of the left gluteal muscle was conducted. Pathology demonstrated anaplastic thyroid carcinoma, metastatic to skeletal muscle.

    View details for PubMedID 29356736

  • Institutional review board perspectives on obligations to disclose genetic incidental findings to research participants GENETICS IN MEDICINE Gliwa, C., Yurkiewicz, I. R., Lehmann, L. S., Hull, S. C., Jones, N., Berkman, B. E. 2016; 18 (7): 705-711

    Abstract

    Researchers' obligations to disclose genetic incidental findings (GIFs) have been widely debated, but there has been little empirical study of the engagement of institutional review boards (IRBs) with this issue.This article presents data from the first extensive (n = 796) national survey of IRB professionals' understanding of, experience with, and beliefs surrounding GIFs.Most respondents had dealt with questions about GIFs (74%), but only a minority (47%) felt prepared to address them. Although a majority believed that there is an obligation to disclose GIFs (78%), there is still not consensus about the supporting ethical principles. Respondents generally did not endorse the idea that researchers' additional time and effort (7%), and lack of resources (29%), were valid reasons for diminishing a putative obligation. Most (96%) supported a right not to know, but this view became less pronounced (63%) when framed in terms of specific case studies.IRBs are actively engaged with GIFs but have not yet reached consensus. Respondents were uncomfortable with arguments that could be used to limit an obligation to return GIFs. This could indicate that IRBs are providing some of the impetus for the trend toward returning GIFs, although questions remain about the relative contribution of other stakeholders.Genet Med 18 7, 705-711.

    View details for DOI 10.1038/gim.2015.149

    View details for Web of Science ID 000381136700009

    View details for PubMedID 26583685

    View details for PubMedCentralID PMC4873456

  • Prenatal Whole-Genome Sequencing - Is the Quest to Know a Fetus's Future Ethical? NEW ENGLAND JOURNAL OF MEDICINE Yurkiewicz, I. R., Korf, B. R., Lehmann, L. S. 2014; 370 (3): 195-197

    View details for DOI 10.1056/NEJMp1215536

    View details for Web of Science ID 000330035600004

    View details for PubMedID 24428465

  • Teleneurology applications Report of the Telemedicine Work Group of the American Academy of Neurology NEUROLOGY Wechsler, L. R., Tsao, J. W., Levine, S. R., Swain-Eng, R. J., Adams, R. J., Demaerschalk, B. M., Hess, D. C., Moro, E., Schwamm, L. H., Steffensen, S., Stern, B. J., Zuckerman, S. J., Bhattacharya, P., Davis, L. E., Yurkiewicz, I. R., Alphonso, A. L. 2013; 80 (7): 670-676

    Abstract

    To review current literature on neurology telemedicine and to discuss its application to patient care, neurology practice, military medicine, and current federal policy.Review of practice models and published literature on primary studies of the efficacy of neurology telemedicine.Teleneurology is of greatest benefit to populations with restricted access to general and subspecialty neurologic care in rural areas, those with limited mobility, and those deployed by the military. Through the use of real-time audio-visual interaction, imaging, and store-and-forward systems, a greater proportion of neurologists are able to meet the demand for specialty care in underserved communities, decrease the response time for acute stroke assessment, and expand the collaboration between primary care physicians, neurologists, and other disciplines. The American Stroke Association has developed a defined policy on teleneurology, and the American Academy of Neurology and federal health care policy are beginning to follow suit.Teleneurology is an effective tool for the rapid evaluation of patients in remote locations requiring neurologic care. These underserved locations include geographically isolated rural areas as well as urban cores with insufficient available neurology specialists. With this technology, neurologists will be better able to meet the burgeoning demand for access to neurologic care in an era of declining availability. An increase in physician awareness and support at the federal and state level is necessary to facilitate expansion of telemedicine into further areas of neurology.

    View details for DOI 10.1212/WNL.0b013e3182823361

    View details for Web of Science ID 000314878500015

    View details for PubMedID 23400317

    View details for PubMedCentralID PMC3590056

  • Outcomes from a US military neurology and traumatic brain injury telemedicine program NEUROLOGY Yurkiewicz, I. R., Lappan, C. M., Neely, E. T., Hesselbrock, R. R., Girard, P. D., Alphonso, A. L., Tsao, J. W. 2012; 79 (12): 1237-1243

    Abstract

    This study evaluated usage of the Army Knowledge Online (AKO) Telemedicine Consultation Program for neurology and traumatic brain injury (TBI) cases in remote overseas areas with limited access to subspecialists. We performed a descriptive analysis of quantity of consults, response times, sites where consults originated, military branches that benefitted, anatomic locations of problems, and diagnoses.This was a retrospective analysis that searched electronic databases for neurology consults from October 2006 to December 2010 and TBI consults from March 2008 to December 2010.A total of 508 consults were received for neurology, and 131 consults involved TBI. For the most part, quantity of consults increased over the years. Meanwhile, response times decreased, with a mean response time of 8 hours, 14 minutes for neurology consults and 2 hours, 44 minutes for TBI consults. Most neurology consults originated in Iraq (67.59%) followed by Afghanistan (16.84%), whereas TBI consults mainly originated from Afghanistan (40.87%) followed by Iraq (33.91%). The most common consultant diagnoses were headaches, including migraines (52.1%), for neurology cases and mild TBI/concussion (52.3%) for TBI cases. In the majority of cases, consultants recommended in-theater management. After receipt of consultant's recommendation, 84 known neurology evacuations were facilitated, and 3 known neurology evacuations were prevented.E-mail-based neurology and TBI subspecialty teleconsultation is a viable method for overseas providers in remote locations to receive expert recommendations for a range of neurologic conditions. These recommendations can facilitate medically necessary patient evacuations or prevent evacuations for which on-site care is preferable.

    View details for DOI 10.1212/WNL.0b013e31826aac33

    View details for Web of Science ID 000309055900014

    View details for PubMedID 22955133

  • Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism BIOLOGICAL PSYCHIATRY Fernandez, T. V., Sanders, S. J., Yurkiewicz, I. R., Ercan-Sencicek, A. G., Kim, Y., Fishman, D. O., Raubeson, M. J., Song, Y., Yasuno, K., Ho, W. S., Bilguvar, K., Glessner, J., Chu, S. H., Leckman, J. F., King, R. A., Gilbert, D. L., Heiman, G. A., Tischfield, J. A., Hoekstra, P. J., Devlin, B., Hakonarson, H., Mane, S. M., Guenel, M., State, M. W. 2012; 71 (5): 392-402

    Abstract

    Studies of copy number variation (CNV) have characterized loci and molecular pathways in a range of neuropsychiatric conditions. We analyzed rare CNVs in Tourette syndrome (TS) to identify novel risk regions and relevant pathways, to evaluate burden of structural variation in cases versus controls, and to assess overlap of identified variations with those in other neuropsychiatric syndromes.We conducted a case-control study of 460 individuals with TS, including 148 parent-child trios and 1131 controls. CNV analysis was undertaken using 370 K to 1 M probe arrays, and genotyping data were used to match cases and controls for ancestry. CNVs present in < 1% of the population were evaluated.While there was no significant increase in the number of de novo or transmitted rare CNVs in cases versus controls, pathway analysis using multiple algorithms showed enrichment of genes within histamine receptor (subtypes 1 and 2) signaling pathways (p = 5.8 × 10(-4) - 1.6 × 10(-2)), as well as axon guidance, cell adhesion, nervous system development, and synaptic structure and function processes. Genes mapping within rare CNVs in TS showed significant overlap with those previously identified in autism spectrum disorders but not intellectual disability or schizophrenia. Three large, likely pathogenic, de novo events were identified, including one disrupting multiple gamma-aminobutyric acid receptor genes.We identify further evidence supporting recent findings regarding the involvement of histaminergic and gamma-aminobutyric acidergic mechanisms in the etiology of TS and show an overlap of rare CNVs in TS and autism spectrum disorders.

    View details for DOI 10.1016/j.biopsych.2011.09.034

    View details for Web of Science ID 000300260700003

    View details for PubMedID 22169095

    View details for PubMedCentralID PMC3282144

  • Enhanced Left-Finger Deftness Following Dominant Upper- and Lower-Limb Amputation NEUROREHABILITATION AND NEURAL REPAIR Swanberg, K. M., Clark, A. M., Kline, J. E., Yurkiewicz, I. R., Chan, B. L., Pasquina, P. F., Heilman, K. M., Tsao, J. W. 2011; 25 (7): 680-684

    Abstract

    After amputation, the sensorimotor cortex reorganizes, and these alterations might influence motor functions of the remaining extremities.The authors examined how amputation of the dominant or nondominant upper or lower extremity alters deftness in the intact limbs.The participants were 32 unilateral upper- or lower-extremity amputees and 6 controls. Upper-extremity deftness was tested by coin rotation (finger deftness) and pegboard (arm, hand, and finger deftness) tasks.Following right-upper- or right-lower-extremity amputation, the left hand's finger movements were defter than the left-hand fingers of controls. In contrast, with left-upper- or left-lower-extremity amputation, the right hand's finger performance was the same as that of the controls.Although this improvement might be related to increased use (practice), the finding that right-lower-extremity amputation also improved the left hand's finger deftness suggests an alternative mechanism. Perhaps in right-handed persons the left motor cortex inhibits the right side of the body more than the right motor cortex inhibits the left side, and the physiological changes induced by right-sided amputation reduced this inhibition.

    View details for DOI 10.1177/1545968311404242

    View details for Web of Science ID 000293512500011

    View details for PubMedID 21478497

  • Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism NEURON Sanders, S. J., Ercan-Sencicek, A. G., Hus, V., Luo, R., Murtha, M. T., Moreno-De-Luca, D., Chu, S. H., Moreau, M. P., Gupta, A. R., Thomson, S. A., Mason, C. E., Bilguvar, K., Celestino-Soper, P. B., Choi, M., Crawford, E. L., Davis, L., Wright, N. R., Dhodapkar, R. M., DiCola, M., DiLullo, N. M., Fernandez, T. V., Fielding-Singh, V., Fishman, D. O., Frahm, S., Garagaloyan, R., Goh, G. S., Kammela, S., Klei, L., Lowe, J. K., Lund, S. C., McGrew, A. D., Meyer, K. A., Moffat, W. J., Murdoch, J. D., O'Roak, B. J., Ober, G. T., Pottenger, R. S., Raubeson, M. J., Song, Y., Wang, Q., Yaspan, B. L., Yu, T. W., Yurkiewicz, L. R., Beaudet, A. L., Cantor, R. M., Curland, M., Grice, D. E., Guenel, M., Lifton, R. P., Mane, S. M., Martin, D. M., Shaw, C. A., Sheldon, M., Tischfield, J. A., Walsh, C. A., Morrow, E. M., Ledbetter, D. H., Fombonne, E., Lord, C., Martin, C. L., Brooks, A. I., Sutcliffe, J. S., Cook, E. H., Geschwind, D., Roeder, K., Devlin, B., State, M. W. 2011; 70 (5): 863-885

    Abstract

    We have undertaken a genome-wide analysis of rare copy-number variation (CNV) in 1124 autism spectrum disorder (ASD) families, each comprised of a single proband, unaffected parents, and, in most kindreds, an unaffected sibling. We find significant association of ASD with de novo duplications of 7q11.23, where the reciprocal deletion causes Williams-Beuren syndrome, characterized by a highly social personality. We identify rare recurrent de novo CNVs at five additional regions, including 16p13.2 (encompassing genes USP7 and C16orf72) and Cadherin 13, and implement a rigorous approach to evaluating the statistical significance of these observations. Overall, large de novo CNVs, particularly those encompassing multiple genes, confer substantial risks (OR = 5.6; CI = 2.6-12.0, p = 2.4 × 10(-7)). We estimate there are 130-234 ASD-related CNV regions in the human genome and present compelling evidence, based on cumulative data, for association of rare de novo events at 7q11.23, 15q11.2-13.1, 16p11.2, and Neurexin 1.

    View details for DOI 10.1016/j.neuron.2011.05.002

    View details for Web of Science ID 000291843500008

    View details for PubMedID 21658581

  • Army Programs Related to Warriors in Transition Warrior Transition Leader Medical Rehabilitation Handbook Yurkiewicz, I. R., Pasquina, P. F., Drach, R. edited by Cooper, R. A., Pasquina, P. F., Drach, R. Borden Institute. 2011

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