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  1. Article ; Online: Intellectual disability syndrome associated with a homozygous founder variant in

    Birnbaum, Rivka / Ezer, Shlomit / Lotan, Nava Shaul / Eilat, Avital / Sternlicht, Keren / Benyamini, Lilach / Reish, Orit / Falik-Zaccai, Tzipora / Ben-Gad, Gali / Rod, Raya / Segel, Reeval / Kim, Katherine / Burton, Barabra / Keegan, Catherine E / Wagner, Mallory / Henderson, Lindsay B / Mor, Nofar / Barel, Ortal / Hirsch, Yoel /
    Meiner, Vardiella / Elpeleg, Orly / Harel, Tamar / Mor-Shakad, Hagar

    Journal of medical genetics

    2024  Volume 61, Issue 3, Page(s) 289–293

    Abstract: Background: Neurodevelopmental disorders (NDDs) impact both the development and functioning of the brain and exhibit clinical and genetic variability. RAP and RAB proteins, belonging to the RAS superfamily, are identified as established contributors to ... ...

    Abstract Background: Neurodevelopmental disorders (NDDs) impact both the development and functioning of the brain and exhibit clinical and genetic variability. RAP and RAB proteins, belonging to the RAS superfamily, are identified as established contributors to NDDs. However, the involvement of SGSM (small G protein signalling modulator), another member of the RAS family, in NDDs has not been previously documented.
    Methods: Proband-only or trio exome sequencing was performed on DNA samples obtained from affected individuals and available family members. The variant prioritisation process focused on identifying rare deleterious variants. International collaboration aided in the identification of additional affected individuals.
    Results: We identified 13 patients from 8 families of Ashkenazi Jewish origin who all carried the same homozygous frameshift variant in
    Conclusions: An Ashkenazi Jewish homozygous founder variant in
    MeSH term(s) Humans ; Intellectual Disability/genetics ; Jews/genetics ; Homozygote ; Syndrome ; Neurodevelopmental Disorders
    Language English
    Publishing date 2024-02-21
    Publishing country England
    Document type Journal Article
    ZDB-ID 220881-7
    ISSN 1468-6244 ; 0022-2593
    ISSN (online) 1468-6244
    ISSN 0022-2593
    DOI 10.1136/jmg-2023-109504
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: [GENOTYPE-PHENOTYPE CORRELATIONS BY SPECIFIC FOUNDER VARIANTS IN BRCA IN ISRAELI WOMEN].

    Michaelson-Cohen, Rachel / Laitman, Yael / Kedar, Inbal / Baris-Feldman, Hagit / Reish, Orit / Lieberman, Sari / Bernstein-Molho, Rinat / Goldberg, Yael / Reznick Levi, Gili / Gershoni, Ruth / Beller, Uzi / Levy-Lahad, Ephrat / Catan, Raphael / Friedman, Eitan

    Harefuah

    2023  Volume 162, Issue 6, Page(s) 370–375

    Abstract: Introduction: Hereditary breast and ovarian cancer (HBOC) is predominantly accounted for by pathogenic variants (PVs) in BRCA1/BRCA2 genes. Population screening for recurring PVs in Ashkenazi Jews (AJ) was incorporated into the Israeli health basket in ... ...

    Abstract Introduction: Hereditary breast and ovarian cancer (HBOC) is predominantly accounted for by pathogenic variants (PVs) in BRCA1/BRCA2 genes. Population screening for recurring PVs in Ashkenazi Jews (AJ) was incorporated into the Israeli health basket in 2020, increasing the identification of BRCA carriers. Information on cancer risks for each PV in Israel is limited.
    Aims: To assess genotype phenotype correlations of recurring BRCA PVs in Israeli carriers.
    Methods: A retrospective cohort of 3,478 BRCA carriers followed-up in 12 medical centers, comprising the HBOC Consortium, formed the basis of the study. Data were collected using the electronic database, and analyzed by Chi square, t-tests and Kaplan-Meier survival analysis.
    Results: Overall, 2145 BRCA1, 1131 BRCA2, and 22 double heterozygote PV carriers were analyzed. BRCA1 carriers had more cases of cancer (53.1% vs. 44.8%, p<0.001), ovarian cancer (OC) (17.1% vs. 10.6%, p<0.001), younger age at breast cancer (BC) (45.4 ±11.6SD years vs. 49.1 ±11.1SD years, p<0.001) and OC diagnosis (52.8 ±10.1SD yrs. vs. 61±10.6SD yrs. p<0.001), and more family history of BC (64.5% vs. 59.0%, p<0.001) and OC (36.7% vs. 27.3%, p<0.001) compared with BRCA2 carriers. Carriers of BRCA15382insC had more BC and less OC than BRCA1185delAG: 46.4% vs. 38.6% and 12.9% vs. 17.6% (p<0.04), respectively.
    Conclusions: In our population, similar to others, BRCA1 carriers have higher cancer rates and earlier age at diagnosis compared with BRCA2 carriers. The two recurring BRCA1 PVs have different risks: 5382insC carriers had more BC; 185delAG carriers had more OC. Risk-reducing measures should be based on variant-specific cancer risk.
    MeSH term(s) Humans ; Female ; Israel/epidemiology ; Retrospective Studies ; Genes, BRCA1 ; Neoplasm Recurrence, Local ; BRCA2 Protein/genetics ; Ovarian Neoplasms/epidemiology ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/pathology ; BRCA1 Protein/genetics ; Breast Neoplasms/epidemiology ; Breast Neoplasms/genetics ; Genetic Association Studies ; Jews/genetics ; Mutation ; Genetic Predisposition to Disease
    Chemical Substances BRCA2 Protein ; BRCA1 Protein
    Language Hebrew
    Publishing date 2023-07-03
    Publishing country Israel
    Document type English Abstract ; Journal Article
    ZDB-ID 953872-0
    ISSN 0017-7768
    ISSN 0017-7768
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  3. Article ; Online: Sporadic aneuploidy in PHA-stimulated lymphocytes of trisomies 21, 18, and 13.

    Reish, O / Regev, M / Kanesky, A / Girafi, S / Mashevich, M

    Cytogenetic and genome research

    2011  Volume 133, Issue 2-4, Page(s) 184–189

    Abstract: Following the observation detected in a previous study that X chromosome monosomy in Turner's syndrome genotypes was associated with a sporadic loss and/or gain of other chromosomes, we studied here whether this instability is a consistent finding in ... ...

    Abstract Following the observation detected in a previous study that X chromosome monosomy in Turner's syndrome genotypes was associated with a sporadic loss and/or gain of other chromosomes, we studied here whether this instability is a consistent finding in constitutional autosomal trisomies. We used PHA-stimulated lymphocytes derived from 14 patients (10 patients with trisomy 21, 2 with trisomy 18, and 2 with trisomy 13). Fourteen healthy controls were compared. Fluorescence in situ hybridization, applied at interphase cells, was used to evaluate the level of aneuploidy for 3 randomly selected chromosomes (autosomes 8, 15, and 16) in each sample. For each tested chromosome, our results showed a significantly higher level of aneuploid cells in the samples from the patients than in those from controls, with no difference between the patient groups. The mean level of aneuploid cells (percentage) for all 3 tested autosomes was almost twice as high in the patient samples as in the control samples. The aneuploidy level was mainly due to monosomy, which was significantly higher in the samples from the patients than in those from controls for each one of the tested chromosomes, with no difference between the patient groups. The mean level of monosomic cells (percentage) for all 3 tested chromosomes was almost twice as high in the patient samples as in the control samples. Our study shows that various constitutional autosomal trisomies are associated with an increased frequency of non-chromosome specific aneuploidy and is a continuation of the previous study documenting sporadic aneuploidy in Turner's sample cells. It is possible that primary aneuploid cells destabilize their own genome resulting in variable aneuploidy of other chromosomes. It is also possible that one or several common factor(s) is/are involved in both constitutional and sporadic aneuploidy.
    MeSH term(s) Adolescent ; Adult ; Aneuploidy ; Cells, Cultured ; Child ; Child, Preschool ; Chromosomes, Human, Pair 13 ; Chromosomes, Human, Pair 18 ; Down Syndrome ; Humans ; Infant ; Infant, Newborn ; Lymphocytes/cytology ; Lymphocytes/drug effects ; Lymphocytes/metabolism ; Middle Aged ; Phytohemagglutinins/pharmacology ; Trisomy ; Young Adult
    Chemical Substances Phytohemagglutinins
    Language English
    Publishing date 2011
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2087824-2
    ISSN 1424-859X ; 1424-8581
    ISSN (online) 1424-859X
    ISSN 1424-8581
    DOI 10.1159/000323504
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  4. Article: [Prenatal diagnosis of trisomy 13 and trisomy 18: the experience of Assaf-Harofe Medical Center].

    Naor Dovev, M / Maymon, R / Keidar, R / Reish, O / Melcer, Y / Meltzer, Y / Vaknin, Z

    Harefuah

    2014  Volume 153, Issue 8, Page(s) 453–7, 499, 498

    Abstract: Introduction: Trisomy 18 and 13 are the most common autosomal trisomies, after trisomy 21, and their frequency is rising due to the increased maternal age of pregnant women. The fetuses suffer from multi-organ damage that may lead to many gestational ... ...

    Abstract Introduction: Trisomy 18 and 13 are the most common autosomal trisomies, after trisomy 21, and their frequency is rising due to the increased maternal age of pregnant women. The fetuses suffer from multi-organ damage that may lead to many gestational complications as well as short life expectancy.
    Objective: To assess the indications for prenatal karyotyping of trisomy 13 (T-13, Patau syndrome) and trisomy 18 (T-18, Edwards syndrome) during pregnancy in our medical center.
    Methods: This retrospective cohort study involved all singleton pregnancies locally diagnosed or referred to our Institute because of T-13 and T-18, during the years 1998-2011.
    Results: There were 1879 cases of termination of pregnancies (TOPs) because of fetal indications, of them 53 cases of T-18 and 10 cases of T-13. The main indications for prenatal karyotyping in our study group were abnormal sonographic findings during anomaLy scans. In addition, 7 newborns with T-18 and 3 infants with T-13 were born in our hospital during the same period of time. We examined all cases that led to the Live birth of newborns with chromosomal anomalies, stemming from the Lack of extraction of the tests mentioned above and/or ignoring findings that raise suspicion that requires performing prenatal karyotyping during pregnancy.
    Discussion: Our findings corresponded with other studies and showed that prenatal diagnosis of T-13/T-18 due to abnormal sonographic finding is rising.
    Conclusions: Our study shows that it was possible to identify the vast majority of T-13/T-18 among the pregnant women who had an increased risk based on a combination of the routine screening tests applied in Israel.
    MeSH term(s) Abortion, Eugenic/methods ; Abortion, Eugenic/statistics & numerical data ; Adult ; Chromosome Disorders/diagnosis ; Chromosome Disorders/epidemiology ; Chromosome Disorders/genetics ; Chromosomes, Human, Pair 13/genetics ; Chromosomes, Human, Pair 18/genetics ; Cohort Studies ; Female ; Genetic Testing/methods ; Genetic Testing/statistics & numerical data ; Humans ; Israel/epidemiology ; Karyotyping/methods ; Mass Screening/methods ; Mass Screening/organization & administration ; Maternal Age ; Pregnancy ; Retrospective Studies ; Risk Assessment ; Risk Factors ; Trisomy/diagnosis ; Trisomy/genetics ; Trisomy 13 Syndrome ; Trisomy 18 Syndrome ; Ultrasonography, Prenatal/methods ; Ultrasonography, Prenatal/statistics & numerical data
    Language Hebrew
    Publishing date 2014-10-06
    Publishing country Israel
    Document type Journal Article
    ZDB-ID 953872-0
    ISSN 0017-7768
    ISSN 0017-7768
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  5. Article: Sporadic Aneuploidy in PHA-Stimulated Lymphocytes of Trisomies 21, 18, and 13

    Reish, O. / Regev, M. / Kanesky, A. / Girafi, S. / Mashevich, M.

    Cytogenetic and Genome Research

    2011  Volume 133, Issue 2-4, Page(s) 184–189

    Abstract: Following the observation detected in a previous study that X chromosome monosomy in Turner’s syndrome genotypes was associated with a sporadic loss and/or gain of other chromosomes, we studied here whether this instability is a consistent finding in ... ...

    Institution Genetics Institute, Assaf Harofeh Medical Center, Zerifin Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
    Abstract Following the observation detected in a previous study that X chromosome monosomy in Turner’s syndrome genotypes was associated with a sporadic loss and/or gain of other chromosomes, we studied here whether this instability is a consistent finding in constitutional autosomal trisomies. We used PHA-stimulated lymphocytes derived from 14 patients (10 patients with trisomy 21, 2 with trisomy 18, and 2 with trisomy 13). Fourteen healthy controls were compared. Fluorescence in situ hybridization, applied at interphase cells, was used to evaluate the level of aneuploidy for 3 randomly selected chromosomes (autosomes 8, 15, and 16) in each sample. For each tested chromosome, our results showed a significantly higher level of aneuploid cells in the samples from the patients than in those from controls, with no difference between the patient groups. The mean level of aneuploid cells (percentage) for all 3 tested autosomes was almost twice as high in the patient samples as in the control samples. The aneuploidy level was mainly due to monosomy, which was significantly higher in the samples from the patients than in those from controls for each one of the tested chromosomes, with no difference between the patient groups. The mean level of monosomic cells (percentage) for all 3 tested chromosomes was almost twice as high in the patient samples as in the control samples. Our study shows that various constitutional autosomal trisomies are associated with an increased frequency of non-chromosome specific aneuploidy and is a continuation of the previous study documenting sporadic aneuploidy in Turner’s sample cells. It is possible that primary aneuploid cells destabilize their own genome resulting in variable aneuploidy of other chromosomes. It is also possible that one or several common factor(s) is/are involved in both constitutional and sporadic aneuploidy.
    Keywords Autosome ; Constitutional trisomies ; FISH ; Sporadic aneuploidy
    Language English
    Publishing date 2011-01-19
    Publisher S. Karger AG
    Publishing place Basel, Switzerland
    Document type Article
    Note Aneuploidy at Different Life Stages: Somatic
    ZDB-ID 2087824-2
    ISBN 978-3-8055-9736-4 ; 978-3-8055-9737-1 ; 3-8055-9736-3 ; 3-8055-9737-1
    ISSN 1424-859X ; 1424-8581
    ISSN (online) 1424-859X
    ISSN 1424-8581
    DOI 10.1159/000323504
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  6. Article ; Online: Sporadic Aneuploidy in PHA-Stimulated Lymphocytes of Trisomies 21, 18, and 13

    Reish, O. / Regev, M. / Kanesky, A. / Girafi, S. / Mashevich, M.

    Cytogenetic and Genome Research

    2011  Volume 133, Issue 2-4, Page(s) 184–189

    Abstract: Following the observation detected in a previous study that X chromosome monosomy in Turner’s syndrome genotypes was associated with a sporadic loss and/or gain of other chromosomes, we studied here whether this instability is a consistent finding in ... ...

    Abstract Following the observation detected in a previous study that X chromosome monosomy in Turner’s syndrome genotypes was associated with a sporadic loss and/or gain of other chromosomes, we studied here whether this instability is a consistent finding in constitutional autosomal trisomies. We used PHA-stimulated lymphocytes derived from 14 patients (10 patients with trisomy 21, 2 with trisomy 18, and 2 with trisomy 13). Fourteen healthy controls were compared. Fluorescence in situ hybridization, applied at interphase cells, was used to evaluate the level of aneuploidy for 3 randomly selected chromosomes (autosomes 8, 15, and 16) in each sample. For each tested chromosome, our results showed a significantly higher level of aneuploid cells in the samples from the patients than in those from controls, with no difference between the patient groups. The mean level of aneuploid cells (percentage) for all 3 tested autosomes was almost twice as high in the patient samples as in the control samples. The aneuploidy level was mainly due to monosomy, which was significantly higher in the samples from the patients than in those from controls for each one of the tested chromosomes, with no difference between the patient groups. The mean level of monosomic cells (percentage) for all 3 tested chromosomes was almost twice as high in the patient samples as in the control samples. Our study shows that various constitutional autosomal trisomies are associated with an increased frequency of non-chromosome specific aneuploidy and is a continuation of the previous study documenting sporadic aneuploidy in Turner’s sample cells. It is possible that primary aneuploid cells destabilize their own genome resulting in variable aneuploidy of other chromosomes. It is also possible that one or several common factor(s) is/are involved in both constitutional and sporadic aneuploidy.
    Keywords Autosome ; Constitutional trisomies ; FISH ; Sporadic aneuploidy
    Language English
    Publisher S. Karger AG
    Publishing place Basel
    Publishing country Switzerland
    Document type Article ; Online
    ZDB-ID 2087824-2
    ISSN 1424-859X ; 1424-8581 ; 1424-8581
    ISSN (online) 1424-859X
    ISSN 1424-8581
    DOI 10.1159/000323504
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  7. Article: Brain anomalies associated with 47,XYY karyotypes detected on a prenatal scan.

    Maymon, R / Herman, A / Reish, O

    Prenatal diagnosis

    2002  Volume 22, Issue 6, Page(s) 490–492

    MeSH term(s) Adult ; Brain/abnormalities ; Brain/embryology ; Echoencephalography ; Female ; Humans ; Male ; Pregnancy ; Ultrasonography, Prenatal ; XYY Karyotype/diagnostic imaging
    Language English
    Publishing date 2002-06
    Publishing country England
    Document type Case Reports ; Letter
    ZDB-ID 82031-3
    ISSN 1097-0223 ; 0197-3851
    ISSN (online) 1097-0223
    ISSN 0197-3851
    DOI 10.1002/pd.332
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  8. Article ; Online: Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.

    Feingold-Zadok, Michal / Chitayat, David / Chong, Karen / Injeyan, Marie / Shannon, Patrick / Chapmann, Daphne / Maymon, Ron / Pillar, Nir / Reish, Orit

    Prenatal diagnosis

    2017  Volume 37, Issue 2, Page(s) 144–150

    Abstract: Objective: We studied a series of patients with fetal akinesia deformation sequence (FADS)/arthrogryposis multiplex congenita (AMC), with nemaline bodies on muscle specimens, which revealed mutations in the NEB gene.: Method: We pathologically ... ...

    Abstract Objective: We studied a series of patients with fetal akinesia deformation sequence (FADS)/arthrogryposis multiplex congenita (AMC), with nemaline bodies on muscle specimens, which revealed mutations in the NEB gene.
    Method: We pathologically assessed seven cases from three families, who presented with AMC/FADS. Targeted genetic analysis for Ashkenazi Jewish mutation (in relevant patients) was followed by next-generation sequencing and multiplex ligation-dependent probe amplification.
    Results: All cases were detected on prenatal ultrasound. Characteristic nemaline bodies on muscle specimens were demonstrated in at least one case in each of the nuclear families. In the Ashkenazi Jewish family, the known founder mutation was compounded by one recurrent novel splice site. The other two families were of Chinese and Korean origins, and only one pathogenic heterozygous mutation was detected in each.
    Conclusions: Nemaline myopathy due to NEB mutation(s) leads to FADS/AMC. Currently, mutated NEB is under-recognized as a cause for AMC/FADS. Our study attempts to raise recognition of this gene as a cause, suggesting the NEB gene should be included in genetic panels used for FADS/AMC cases and be fully covered when EXOME sequencing is utilized. A heterozygous mutation may suggest either compounding undetected one or digenic interaction that requires further genetic analyses. © 2016 John Wiley & Sons, Ltd.
    MeSH term(s) Abortion, Eugenic ; Arthrogryposis/genetics ; Fatal Outcome ; Female ; Genetic Testing ; Humans ; Infant, Newborn ; Male ; Muscle Proteins/genetics ; Mutation ; Pedigree ; Pregnancy
    Chemical Substances Muscle Proteins ; nebulin
    Language English
    Publishing date 2017-02
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 82031-3
    ISSN 1097-0223 ; 0197-3851
    ISSN (online) 1097-0223
    ISSN 0197-3851
    DOI 10.1002/pd.4977
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  9. Article ; Online: The yield of targeted genotyping for the recurring mutations in BRCA1/2 in Israel.

    Bernstein-Molho, Rinat / Laitman, Yael / Schayek, Hagit / Reish, Orit / Lotan, Shira / Haim, Sara / Zidan, Jamal / Friedman, Eitan

    Breast cancer research and treatment

    2017  Volume 167, Issue 3, Page(s) 697–702

    Abstract: Background: Hereditary breast cancer is predominantly associated with germline mutations in the BRCA1 or BRCA2 genes. A few recurring mutations in these genes were reported in ethnically diverse Jewish populations. Since 2013, most oncogenetic ... ...

    Abstract Background: Hereditary breast cancer is predominantly associated with germline mutations in the BRCA1 or BRCA2 genes. A few recurring mutations in these genes were reported in ethnically diverse Jewish populations. Since 2013, most oncogenetic laboratories in Israel adopted a two-step approach for BRCA1/2 genotyping, where the first step is genotyping for 14 seemingly recurring mutations-first-pass genotyping. The aim of this study was to assess the yield of this targeted BRCA sequencing.
    Methods: Clinical and genotyping data of all individuals who underwent oncogenetic counseling and first-pass BRCA genotyping at the Oncogenetic Service Sheba and Assaf Harofeh Medical Centers from 1 February 2013 to 30 June 2017 were reviewed. All study participants were unrelated to each other.
    Results: Overall, 5152 oncogenetic tests were reviewed in the present study, of which 4452 had no a priori known familial mutation. The majority of participants (68.6%) were genotyped because of personal history of cancer; 20.6% were tested because of family history of cancer, and details for the remaining 10.7% were missing. Overall, 256/4452 (5.8%) carriers were detected, 141 BRCA1 and 115 BRCA2 mutation carriers. In 54% of cancer-free carriers, no clinically suspicious family history of cancer was ascertained.
    Conclusions: The currently used scheme of first-pass genotyping in Israel seems to have a high yield of mutation detection even in the absence of a significant family history of cancer. The challenge is to optimize the currently used targeted panel of common mutations and adjust it to the accumulating new data in the Israeli population.
    MeSH term(s) Adult ; Aged ; BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Breast Neoplasms/epidemiology ; Breast Neoplasms/genetics ; Breast Neoplasms/pathology ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Genotype ; Germ-Line Mutation/genetics ; Heterozygote ; Humans ; Jews/genetics ; Male ; Middle Aged ; Mutation ; Ovarian Neoplasms/epidemiology ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/pathology
    Chemical Substances BRCA1 Protein ; BRCA1 protein, human ; BRCA2 Protein
    Language English
    Publishing date 2017-10-30
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 604563-7
    ISSN 1573-7217 ; 0167-6806
    ISSN (online) 1573-7217
    ISSN 0167-6806
    DOI 10.1007/s10549-017-4551-7
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  10. Article ; Online: The increased expression of 14q32 small nucleolar RNA transcripts in promyelocytic leukemia cells is not dependent on PML-RARA fusion gene.

    Cohen, Y / Hertzog, K / Reish, O / Mashevich, M / Garach-Jehoshua, O / Bar-Chaim, A / Trakhtenbrot, L / Kornberg, A

    Blood cancer journal

    2012  Volume 2, Page(s) e92

    Language English
    Publishing date 2012-10-12
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2600560-8
    ISSN 2044-5385 ; 2044-5385
    ISSN (online) 2044-5385
    ISSN 2044-5385
    DOI 10.1038/bcj.2012.39
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