Jacqueline Schoumans

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94 publications

2024 | 2023 | 2022 | 2021 | 2020 | 2019 | 2018 | 2017 | 2016 | 2015 | 2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 2005 | 2004 | 2003 | 2002 | 2001 |
2024
 
Philadelphia chromosome-positive B cell acute lymphoblastic phase arising 24 years after treatment-free remission for chronic myeloid leukemia with identical BCR-ABL fusion transcript.
Dereme J., Voruz S., Solly F., Schoumans J., Blum S., 2024/03. Annals of hematology, 103 (3) pp. 1027-1029. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_481C8EC02EB3]
2023
 
Invariant finding of non-clonal bone marrow lymphocytosis, with increased B cell component, in indolent systemic mastocytosis.
Papadopoulou V., Barcena-Garcia C., Basset V., Schoumans J., de Leval L., Schaller M., 2023/12. International journal of laboratory hematology, 45 (6) pp. 1007-1010. Peer-reviewed.
[DOI][Pmid][serval:BIB_37F209977DE7]
Refined cytogenetic IPSS-R evaluation by the use of SNP array in a cohort of 290 MDS patients.
Scarpelli I., Stalder V.B., Tsilimidos G., Rapakko K., Costanza M., Blum S., Schoumans J., 2023/12. Genes, chromosomes & cancer, 62 (12) pp. 721-731. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_C61747071E47]
 
Single-center, observational study of AML/MDS-EB with IDH1/2 mutations: genetic profile, immunophenotypes, mutational kinetics and outcomes.
Papadopoulou V., Schoumans J., Basset V., Solly F., Pasquier J., Blum S., Spertini O., 2023/12. Hematology, 28 (1) p. 2180704. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E1AEFA186EFE]
 
Développements récents en hématologie, Partie 2
Duchosal Michel A., Alberio Lorenzo, Angelillo-Scherrer Anne, Arber Caroline, Balabanov Stefan, Blum Sabine, Bttcher Steffen, Buser Andreas, Cairoli Anne, Chalandon Yves et al., 2023/08/23. Forum Médical Suisse ‒ Swiss Medical Forum.
[DOI][serval:BIB_E9D38C229944]
 
Développements récents en hématologie, Teil 1
Duchosal Michel A., Alberio Lorenzo, Angelillo-Scherrer Anne, Arber Caroline, Balabanov Stefan, Blum Sabine, Bttcher Steffen, Buser Andreas, Cairoli Anne, Chalandon Yves et al., 2023/08/16. Forum Médical Suisse ‒ Swiss Medical Forum.
[DOI][serval:BIB_BEEE6D0FAED7]
Description of an Institutional Cohort of Myeloid Neoplasms Carrying ETV6-Locus Deletions or ETV6 Rearrangements.
Papadopoulou V., Schoumans J., Scarpelli I., Blum S., 2023. Acta haematologica, 146 (5) pp. 401-407. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_4670AF426CC7]
2022
Optical Genome Mapping: A Promising New Tool to Assess Genomic Complexity in Chronic Lymphocytic Leukemia (CLL).
Puiggros A., Ramos-Campoy S., Kamaso J., de la Rosa M., Salido M., Melero C., Rodríguez-Rivera M., Bougeon S., Collado R., Gimeno E. et al., 2022/07/11. Cancers, 14 (14) p. 3376. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_119F512686F7]
 
Chromosome banding analysis and genomic microarrays are both useful but not equivalent methods for genomic complexity risk stratification in chronic lymphocytic leukemia patients.
Ramos-Campoy S., Puiggros A., Beà S., Bougeon S., Larráyoz M.J., Costa D., Parker H., Rigolin G.M., Ortega M., Blanco M.L. et al., 2022/03/01. Haematologica, 107 (3) pp. 593-603. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_331FD685E45F]
Venetoclax combined with FLAG-based chemotherapy induces an early and deep response in mixed-phenotype-acute leukemia.
Ségot A., Stalder G., de Leval L., Solly F., Schoumans J., Basset V., Blum S., Spertini O., 2022/03/01. American journal of hematology, 97 (3) pp. E91-E93. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_92714D3B5868]
Isolated skin infiltration by a blastic plasmacytoid dendritic cell neoplasm.
Stalder G., Milowich D., Blum S., Schoumans J., Bisig B., Spertini O., 2022/02. EJHaem, 3 (1) pp. 259-260. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_EC0E8BADE124]
2021
Daratumumab and venetoclax in combination with chemotherapy provide sustained molecular remission in relapsed/refractory CD19, CD20, and CD22 negative acute B lymphoblastic leukemia with KMT2A-AFF1 transcript.
Voruz S., Blum S., de Leval L., Schoumans J., Solly F., Spertini O., 2021/12/20. Biomarker research, 9 (1) p. 92. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_3AC8AE13FD49]
 
Secondary enucleated retinoblastoma with MYCN amplification.
Moulin A.P., Stathopoulos C., Marcelli F., Schoumans Pouw J., Beck-Popovic M., Munier F.L., 2021/06. Ophthalmic genetics, 42 (3) pp. 354-359. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_C20F515BFED4]
The noradrenergic profile of plasma metanephrine in neuroblastoma patients is reproduced in xenograft mice models and arise from PNMT downregulation.
Abid K., Popovic M.B., Bourloud K.B., Schoumans J., Grand-Guillaume J., Grouzmann E., Mühlethaler-Mottet A., 2021/01/05. Oncotarget, 12 (1) pp. 49-60. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_F6E0642966A2]
 
Characterization of myelodysplastic syndromes progressing to acute lymphoblastic leukemia.
Martins F., Kruszewski M., Scarpelli I., Schoumans J., Spertini O., Lübbert M., Blum S., 2021/01. Annals of hematology, 100 (1) pp. 63-78. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_387FEDC64B22]
Genomic arrays identify high-risk chronic lymphocytic leukemia with genomic complexity: a multi-center study.
Leeksma A.C., Baliakas P., Moysiadis T., Puiggros A., Plevova K., Van der Kevie-Kersemaekers A.M., Posthuma H., Rodriguez-Vicente A.E., Tran A.N., Barbany G. et al., 2021/01/01. Haematologica, 106 (1) pp. 87-97. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_66A0549DE1D2]
2020
European recommendations and quality assurance for cytogenomic analysis of haematological neoplasms: reponse to the comments from the Francophone Group of Hematological Cytogenetics (GFCH).
Rack K.A., van den Berg E., Haferlach C., Beverloo H.B., Costa D., Espinet B., Foot N., Jeffries S., Martin K., O'Connor S. et al., 2020/08. Leukemia, 34 (8) pp. 2262-2264. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_666F7FC1A4E9]
 
Detection of rare reciprocal RUNX1 rearrangements by next-generation sequencing in acute myeloid leukemia.
Flach J., Shumilov E., Joncourt R., Porret N., Tchinda J., Legros M., Scarpelli I., Hewer E., Novak U., Schoumans J. et al., 2020/04. Genes, chromosomes & cancer, 59 (4) pp. 268-274. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_EC558447CA4C]
2019
European recommendations and quality assurance for cytogenomic analysis of haematological neoplasms
Rack K. A., van den Berg E., Haferlach C., Beverloo H. B., Costa D., Espinet B., Foot N., Jeffries S., Martin K., O'Connor S. et al., 2019/08. Leukemia, 33 (8) pp. 1851-1867. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_FAE142D5FE6C]
 
Next-Generation Sequencing-Based Testing in Diagnostic Oncohematology: Untangling the Knots
Scarpelli Ilaria, Marcelli Fabienne, Mattioli Francesca, Schoumans Jacqueline, 2019/04/01. OBM Genetics, 3 (3) pp. 1-20. Peer-reviewed.
[DOI][serval:BIB_EDD2C5B86D7A]
2018
MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences.
L'Abbate A., Tolomeo D., Cifola I., Severgnini M., Turchiano A., Augello B., Squeo G., D'Addabbo P., Traversa D., Daniele G. et al., 2018/10. Leukemia, 32 (10) pp. 2152-2166. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_B06CF079ED66]
2017
Laboratory Genetic Testing in Clinical Practice 2016.
Cogulu O., Schoumans J., Toruner G., Demkow U., Karaca E., Durmaz A.A., 2017. BioMed research international, 2017 p. 5798714. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_735C936910F9]
2016
 
Guidelines for cytogenetic investigations in tumours.
Hastings R.J., Bown N., Tibiletti M.G., Debiec-Rychter M., Vanni R., Espinet B., van Roy N., Roberts P., van den Berg-de-Ruiter E., Bernheim A. et al., 2016/01. European journal of human genetics, 24 (1) pp. 6-13. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_238AFE37D7D9]
 
Guidelines for genomic array analysis in acquired haematological neoplastic disorders.
Schoumans J., Suela J., Hastings R., Muehlematter D., Rack K., van den Berg E., Berna Beverloo H., Stevens-Kroef M., 2016. Genes, Chromosomes and Cancer, 55 (5) pp. 480-491. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_16339C7307D0]
2015
Evolution of Genetic Techniques: Past, Present, and Beyond.
Durmaz A.A., Karaca E., Demkow U., Toruner G., Schoumans J., Cogulu O., 2015. Biomed Research International, 2015 p. 461524. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_B7C00E8C5FE4]
Laboratory genetic testing in clinical practice 2014.
Cogulu O., Schoumans J., Toruner G., Demkow U., Karaca E., Durmaz A.A., 2015. Biomed Research International, 2015 p. 574798.
[URN][DOI][WoS][Pmid][serval:BIB_E37B11FCE119]
t(15;21) translocations leading to the concurrent downregulation of RUNX1 and its transcription factor partner genes SIN3A and TCF12 in myeloid disorders.
L'Abbate A., Tolomeo D., De Astis F., Lonoce A., Cunsolo C.L., Mühlematter D., Schoumans J., Vandenberghe P., Van Hoof A., Palumbo O. et al., 2015. Molecular Cancer, 14 (1) p. 211. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_FF9F70D33221]
2014
 
Detecting dic(9;20)(p13.2;p11.2)-positive B-cell precursor acute lymphoblastic leukemia in a clinical setting using fluorescence in situ hybridization.
Zachariadis V., Schoumans J., Ofverholm I., Barbany G., Halvardsson E., Forestier E., Johansson B., Nordenskjöld M., Nordgren A., 2014/01. Leukemia, 28 (1) pp. 196-198. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E08DBD6C9C67]
2013
 
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P., van Bon B.W., Steehouwer M., Rodríguez-Santiago B., Simpson M., Dias P., Anderlid B.M., Arts P., Bhat M., Augello B. et al., 2013/12. Clinical genetics, 84 (6) pp. 539-545. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_F7CFC1017987]
A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination.
Enervald E., Du L., Visnes T., Björkman A., Lindgren E., Wincent J., Borck G., Colleaux L., Cormier-Daire V., van Gent D.C. et al., 2013/11/18. The Journal of experimental medicine, 210 (12) pp. 2503-2513. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_D9ED1016C1ED]
 
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.
Béna F., Bruno D.L., Eriksson M., van Ravenswaaij-Arts C., Stark Z., Dijkhuizen T., Gerkes E., Gimelli S., Ganesamoorthy D., Thuresson A.C. et al., 2013. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 162 (4) pp. 388-403.
[DOI][WoS][Pmid][serval:BIB_476973923510]
2012
 
Genome-wide arrays in routine diagnostics of hematological malignancies.
Simons A., Sikkema-Raddatz B., de Leeuw N., Konrad N.C., Hastings R.J., Schoumans J., 2012. Human Mutation, 33 (6) pp. 941-948.
[DOI][WoS][Pmid][serval:BIB_99054AD77ECE]
 
Homozygous deletions of CDKN2A are present in all dic(9;20)(p13·2;q11·2)-positive B-cell precursor acute lymphoblastic leukaemias and may be important for leukaemic transformation.
Zachariadis V., Schoumans J., Barbany G., Heyman M., Forestier E., Johansson B., Nordenskjöld M., Nordgren A., 2012. British Journal of Haematology, 159 (4) pp. 488-491. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_68D45CF12203]
 
The aromatase gene CYP19A1: several genetic and functional lines of evidence supporting a role in reading, speech and language.
Anthoni H., Sucheston L.E., Lewis B.A., Tapia-Páez I., Fan X., Zucchelli M., Taipale M., Stein C.M., Hokkanen M.E., Castrén E. et al., 2012. Behavior Genetics, 42 (4) pp. 509-527.
[DOI][WoS][Pmid][serval:BIB_9714E66E38AE]
2011
 
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Bremer A., Giacobini M., Eriksson M., Gustavsson P., Nordin V., Fernell E., Gillberg C., Nordgren A., Uppströmer A., Anderlid B.M. et al., 2011. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 156 (2) pp. 115-124.
[DOI][WoS][Pmid][serval:BIB_706BED790797]
 
High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting.
Wincent J., Anderlid B.M., Lagerberg M., Nordenskjöld M., Schoumans J., 2011. Clinical Genetics, 79 (2) pp. 147-157.
[DOI][Pmid][serval:BIB_F82B67B9AE70]
 
Interpretation of array comparative genome hybridization data: a major challenge.
Gijsbers A.C., Schoumans J., Ruivenkamp C.A., 2011. Cytogenetic and Genome Research, 135 (3-4) pp. 222-227. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_2FAB3C5D5A25]
Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient.
Thonberg H., Fallström M., Björkström J., Schoumans J., Nennesmo I., Graff C., 2011. BMC Research Notes, 4 (476) pp. 1-9.
[URN][DOI][Pmid][serval:BIB_2B21B4515D23]
 
The frequency and prognostic impact of dic(9;20)(p13.2;q11.2) in childhood B-cell precursor acute lymphoblastic leukemia: results from the NOPHO ALL-2000 trial.
Zachariadis V., Gauffin F., Kuchinskaya E., Heyman M., Schoumans J., Blennow E., Gustafsson B., Barbany G., Golovleva I., Ehrencrona H. et al., 2011. Leukemia, 25 (4) pp. 622-628.
[DOI][WoS][Pmid][serval:BIB_CC2F8B06F270]
2010
 
22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment.
Lundin J., Söderhäll C., Lundén L., Hammarsjö A., White I., Schoumans J., Läckgren G., Kockum C.C., Nordenskjöld A., 2010. European Journal of Medical Genetics, 53 (2) pp. 61-65.
[DOI][WoS][Pmid][serval:BIB_AC73B088A142]
 
Characterisation of hairy cell leukaemia by tiling resolution array-based comparative genome hybridisation: a series of 13 cases and review of the literature.
Nordgren A., Corcoran M., Sääf A., Bremer A., Kluin-Nelemans H.C., Schoumans J., Grandér D., 2010. European Journal of Haematology, 84 (1) pp. 17-25.
[DOI][WoS][Pmid][serval:BIB_A4C46B185EC7]
 
De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis and developmental delay.
Wincent J., Schoumans J., Anderlid B.M., 2010. European Journal of Medical Genetics, 53 (1) pp. 50-53.
[DOI][WoS][Pmid][serval:BIB_4C200C1A8598]
 
Detailed molecular and clinical characterization of three patients with 21q deletions.
Lindstrand A., Malmgren H., Sahlén S., Schoumans J., Nordgren A., Ergander U., Holm E., Anderlid B.M., Blennow E., 2010. Clinical Genetics, 77 (2) pp. 145-154.
[DOI][WoS][Pmid][serval:BIB_496100BFEC03]
 
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
Bruno D.L., Anderlid B.M., Lindstrand A., van Ravenswaaij-Arts C., Ganesamoorthy D., Lundin J., Martin C.L., Douglas J., Nowak C., Adam M.P. et al., 2010. Journal of Medical Genetics, 47 (5) pp. 299-311.
[DOI][WoS][Pmid][serval:BIB_4937DA52F337]
 
Gendos-array upptäcker även små kromosomförändringar [Gene dosage array can even discover small chromosome changes. More children with developmental deviations may be offered an etiological diagnosis].
Anderlid B.M., Blennow E., Giacobini M., Nordgren A., Wincent J., Schoumans J., Nordenskjöld M., 2010. Läkartidningen, 107 (17) pp. 1144-1149.
[Pmid][serval:BIB_432952127ADD]
 
Improved structural characterization of chromosomal breakpoints using high resolution custom array-CGH.
Lindstrand A., Schoumans J., Gustavsson P., Hanemaaijer N., Malmgren H., Blennow E., 2010. Clinical Genetics, 77 (6) pp. 552-562.
[DOI][WoS][Pmid][serval:BIB_9EC95F4BD452]
 
Laboratory methods for the detection of chromosomal abnormalities.
Schoumans J., Ruivenkamp C., 2010. Methods in Molecular Biology, 628 pp. 53-73.
[DOI][Pmid][serval:BIB_D4287D6E5BC7]
 
Molecular and clinical characterization of patients with overlapping 10p deletions.
Lindstrand A., Malmgren H., Verri A., Benetti E., Eriksson M., Nordgren A., Anderlid B.M., Golovleva I., Schoumans J., Blennow E., 2010. American Journal of Medical Genetics. Part A, 152A (5) pp. 1233-1243.
[DOI][WoS][Pmid][serval:BIB_2DE0273E1DFD]
 
Screening for copy number alterations in loci associated with autism spectrum disorders by two-color multiplex ligation-dependent probe amplification.
Bremer A., Giacobini M., Nordenskjöld M., Brøndum-Nielsen K., Mansouri M., Dahl N., Anderlid B., Schoumans J., 2010. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 153B (1) pp. 280-285.
[DOI][WoS][Pmid][serval:BIB_1FCBB7871C2F]
 
Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.
Wincent J., Bruno D.L., van Bon B.W., Bremer A., Stewart H., Bongers E.M., Ockeloen C.W., Willemsen M.H., Keays D.D., Baird G. et al., 2010. Molecular Syndromology, 1 (5) pp. 246-254.
[DOI][Pmid][serval:BIB_1D0976C35411]
2009
 
Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype
Wincent Josephine, Schulze Astrid, Schoumans Jacqueline, 2009/07. European Journal of Medical Genetics, 52 (4) pp. 271-272.
[DOI][WoS][serval:BIB_6F5F259A39DE]
 
An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.
Bremer A., Schoumans J., Nordenskjöld M., Anderlid B.M., Giacobini M., 2009. European Journal of Medical Genetics, 52 (5) pp. 358-362.
[DOI][WoS][Pmid][serval:BIB_480DD6456E2F]
 
Characterization of double ring chromosome 4 mosaicism associated with bilateral hip dislocation, cortical dysgenesis, and epilepsy.
Soysal Y., Balci S., Hekimler K., Liehr T., Ewers E., Schoumans J., Bui T.H., Içduygu F.M., Kosyakova N., Imirzalioğlu N., 2009. American Journal of Medical Genetics. Part A, 149A (12) pp. 2782-2787.
[DOI][WoS][Pmid][serval:BIB_1A1BA3081B68]
 
Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.
Bruno D.L., Ganesamoorthy D., Schoumans J., Bankier A., Coman D., Delatycki M., Gardner R.J., Hunter M., James P.A., Kannu P. et al., 2009. Journal of Medical Genetics, 46 (2) pp. 123-131.
[DOI][WoS][Pmid][serval:BIB_D7C2FDD7A183]
 
Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15.
Ganesamoorthy D., Bruno D.L., Schoumans J., Storey E., Delatycki M.B., Zhu D., Wei M.K., Nicholson G.A., McKinlay Gardner R.J., Slater H.R., 2009. Clinical Chemistry, 55 (7) pp. 1415-1418.
[DOI][WoS][Pmid][serval:BIB_03F08B64E87F]
2008
 
Array-CGH reveals hidden gene dose changes in children with acute lymphoblastic leukaemia and a normal or failed karyotype by G-banding.
Kuchinskaya E., Heyman M., Nordgren A., Schoumans J., Staaf J., Borg A., Söderhäll S., Grandér D., Nordenskjöld M., Blennow E., 2008. British Journal of Haematology, 140 (5) pp. 572-577.
[DOI][WoS][Pmid][serval:BIB_ECE7ED46C672]
 
CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome.
Wincent J., Holmberg E., Strömland K., Soller M., Mirzaei L., Djureinovic T., Robinson K., Anderlid B., Schoumans J., 2008. Clinical Genetics, 74 (1) pp. 31-38.
[DOI][WoS][Pmid][serval:BIB_CD3B3F4A1D42]
 
Clinical and cytogenetic features of pediatric dic(9;20)(p13.2;q11.2)-positive B-cell precursor acute lymphoblastic leukemias: a Nordic series of 24 cases and review of the literature.
Forestier E., Gauffin F., Andersen M.K., Autio K., Borgström G., Golovleva I., Gustafsson B., Heim S., Heinonen K., Heyman M. et al., 2008. Genes, Chromosomes and Cancer, 47 (2) pp. 149-158.
[DOI][WoS][Pmid][serval:BIB_CD26B9D0E6A6]
 
Concurrent microdeletion and duplication of 22q11.2.
Blennow E., Lagerstedt K., Malmgren H., Sahlén S., Schoumans J., Anderlid B., 2008. Clinical Genetics, 74 (1) pp. 61-67.
[DOI][WoS][Pmid][serval:BIB_6D585F0419F8]
 
Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms.
Zhang Z.F., Ruivenkamp C., Staaf J., Zhu H., Barbaro M., Petillo D., Khoo S.K., Borg A., Fan Y.S., Schoumans J., 2008. European Journal of Human Genetics, 16 (7) pp. 786-792.
[DOI][WoS][Pmid][serval:BIB_7317154D21F3]
 
Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH).
Maas N.M., Van Buggenhout G., Hannes F., Thienpont B., Sanlaville D., Kok K., Midro A., Andrieux J., Anderlid B.M., Schoumans J. et al., 2008. Journal of Medical Genetics, 45 (2) pp. 71-80.
[DOI][WoS][Pmid][serval:BIB_84CC0D513DBA]
 
Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.
Koolen D.A., Sistermans E.A., Nilessen W., Knight S.J., Regan R., Liu Y.T., Kooy R.F., Rooms L., Romano C., Fichera M. et al., 2008. European Journal of Human Genetics, 16 (3) pp. 395-400.
[DOI][WoS][Pmid][serval:BIB_244F4EDB144F]
 
Molecular cytogenetic characterization of a constitutional, highly complex intrachromosomal rearrangement of chromosome 1, with 14 breakpoints and a 0.5 Mb submicroscopic deletion.
Lindstrand A., Malmgren H., Sahlén S., Xin H., Schoumans J., Blennow E., 2008. American Journal of Medical Genetics. Part A, 146A (24) pp. 3217-3222.
[DOI][WoS][Pmid][serval:BIB_E25C4D23C39F]
2007
 
Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients.
Schoumans J., Wincent J., Barbaro M., Djureinovic T., Maguire P., Forsberg L., Staaf J., Thuresson A.C., Borg A., Nordgren A. et al., 2007. European Journal of Human Genetics, 15 (2) pp. 143-149.
[DOI][WoS][Pmid][serval:BIB_77C419BB8740]
 
Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida.
Gustavsson P., Schoumans J., Staaf J., Borg A., Nordenskjöld M., Annerén G., 2007. European Journal of Medical Genetics, 50 (3) pp. 237-241.
[DOI][WoS][Pmid][serval:BIB_D219171425E2]
 
Guidelines for molecular karyotyping in constitutional genetic diagnosis.
Vermeesch J.R., Fiegler H., de Leeuw N., Szuhai K., Schoumans J., Ciccone R., Speleman F., Rauch A., Clayton-Smith J., Van Ravenswaaij C. et al., 2007. European Journal of Human Genetics, 15 (11) pp. 1105-1114.
[DOI][WoS][Pmid][serval:BIB_89CA93AC2878]
 
Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene.
Barbaro M., Oscarson M., Schoumans J., Staaf J., Ivarsson S.A., Wedell A., 2007. Journal of Clinical Endocrinology and Metabolism, 92 (8) pp. 3305-3313.
[DOI][WoS][Pmid][serval:BIB_2359EF5E190A]
 
Tiling-resolution array-CGH reveals the pattern of DNA copy number alterations in acute lymphoblastic leukemia with 21q amplification: the result of telomere dysfunction and breakage/fusion/breakage cycles?
Kuchinskaya E., Nordgren A., Heyman M., Schoumans J., Corcoran M., Staaf J., Borg A., Söderhäll S., Grandér D., Nordenskjöld M. et al., 2007. Leukemia, 21 (6) pp. 1327-1330.
[DOI][WoS][Pmid][serval:BIB_D6B977D1C63A]
2006
 
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
Koolen D.A., Vissers L.E., Pfundt R., de Leeuw N., Knight S.J., Regan R., Kooy R.F., Reyniers E., Romano C., Fichera M. et al., 2006. Nature Genetics, 38 (9) pp. 999-1001.
[DOI][WoS][Pmid][serval:BIB_76CE809AA930]
 
Characterisation of dic(9;20)(p11-13;q11) in childhood B-cell precursor acute lymphoblastic leukaemia by tiling resolution array-based comparative genomic hybridisation reveals clustered breakpoints at 9p13.2 and 20q11.2.
Schoumans J., Johansson B., Corcoran M., Kuchinskaya E., Golovleva I., Grandér D., Forestier E., Staaf J., Borg A., Gustafsson B. et al., 2006. British Journal of Haematology, 135 (4) pp. 492-499.
[DOI][WoS][Pmid][serval:BIB_4B4AA01EA0FC]
 
Combined spectral karyotyping, comparative genomic hybridization, and in vitro apoptyping of a panel of Burkitt's lymphoma-derived B cell lines reveals an unexpected complexity of chromosomal aberrations and a recurrence of specific abnormalities in chemoresistant cell lines.
Karpova M.B., Schoumans J., Blennow E., Ernberg I., Henter J.I., Smirnov A.F., Nordenskjöld M., Fadeel B., 2006. International Journal of Oncology, 28 (3) pp. 605-617.
[WoS][Pmid][serval:BIB_0E8AEFBD5073]
 
Hemizygosity for chromosome 2q14.2-q22.1 spanning the GLI2 and PROC genes associated with growth hormone deficiency, polydactyly, deep vein thrombosis and urogenital abnormalities.
Gustavsson P., Schoumans J., Staaf J., Jönsson G., Carlsson F., Kristoffersson U., Borg A., Nordenskjöld M., Dahl N., 2006. Clinical Genetics, 69 (5) pp. 441-443.
[DOI][WoS][Pmid][serval:BIB_8D2174FCED45]
 
No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome.
Bottani A., Pardo B., Bouchardy I., Schoumans J., Toutain A., Conrad B., 2006. American Journal of Medical Genetics. Part A, 140 (8) pp. 903-905.
[DOI][WoS][Pmid][serval:BIB_F9FEEA399828]
2005
 
Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3).
Schoumans J., Sanner G., Nordenskjöld M., Anderlid B.M., 2005. American Journal of Medical Genetics. Part A, 134 (3) pp. 254-258.
[DOI][WoS][Pmid][serval:BIB_27E8336CF38E]
 
Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb.
Schoumans J., Staaf J., Jönsson G., Rantala J., Zimmer K.S., Borg A., Nordenskjöld M., Anderlid B.M., 2005. European Journal of Medical Genetics, 48 (3) pp. 290-300.
[DOI][WoS][Pmid][serval:BIB_606CBA688252]
Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).
Schoumans J., Ruivenkamp C., Holmberg E., Kyllerman M., Anderlid B.M., Nordenskjöld M., 2005. Journal of Medical Genetics, 42 (9) pp. 699-705.
[DOI][WoS][Pmid][serval:BIB_0F1B92654975]
 
Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome.
Schoumans J., Nordgren A., Ruivenkamp C., Brøndum-Nielsen K., Teh B.T., Annéren G., Holmberg E., Nordenskjöld M., Anderlid B.M., 2005. European Journal of Human Genetics, 13 (2) pp. 260-263.
[DOI][Pmid][serval:BIB_86299172B601]
 
Long-term culture of human urothelial cells--a qualitative analysis.
Fossum M., Lundberg F., Holmberg K., Schoumans J., Kratz G., Nordenskjöld A., 2005. Cells, Tissues, Organs, 181 (1) pp. 11-22.
[DOI][WoS][Pmid][serval:BIB_54578D70F1C3]
 
Raji revisited: cytogenetics of the original Burkitt's lymphoma cell line.
Karpova M.B., Schoumans J., Ernberg I., Henter J.I., Nordenskjöld M., Fadeel B., 2005. Leukemia, 19 (1) pp. 159-161.
[DOI][WoS][Pmid][serval:BIB_B5F902C728DA]
 
Spectral karyotyping of sarcomas and fibroblasts derived from Ink4a/Arf-deficient mice reveals chromosomal instability in vitro.
Robertson S.A., Schoumans J., Looyenga B.D., Yuhas J.A., Zylstra C.R., Koeman J.M., Swiatek P.J., Teh B.T., Williams B.O., 2005. International Journal of Oncology, 26 (3) pp. 629-634.
[WoS][Pmid][serval:BIB_1B6FBA6F9487]
2004
 
A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size.
Schoumans J., Nielsen K., Jeppesen I., Anderlid B.M., Blennow E., Brøndum-Nielsen K., Nordenskjöld M., 2004. European Journal of Human Genetics, 12 (6) pp. 447-454.
[DOI][WoS][Pmid][serval:BIB_7C85D3FED007]
 
Genetic and expression profiles of squamous cell carcinoma of the head and neck correlate with cisplatin sensitivity and resistance in cell lines and patients.
Akervall J., Guo X., Qian C.N., Schoumans J., Leeser B., Kort E., Cole A., Resau J., Bradford C., Carey T. et al., 2004. Clinical Cancer Research, 10 (24) pp. 8204-8213.
[DOI][WoS][Pmid][serval:BIB_5AA1EEB9EA4E]
The performance of CGH array for the detection of cryptic constitutional chromosome imbalances.
Schoumans J., Anderlid B.M., Blennow E., Teh B.T., Nordenskjöld M., 2004. Journal of Medical Genetics, 41 (3) pp. 198-202.
[WoS][Pmid][serval:BIB_43478121B69E]
 
Thyrotoxic adenoma followed by atypical hyperthyroidism due to struma ovarii: clinical and genetic studies.
Ciccarelli A., Valdes-Socin H., Parma J., Khoo S.K., Schoumans J., Colao A., Hamoir E., Beckers A., 2004. European Journal of Endocrinology, 150 (4) pp. 431-437.
[WoS][Pmid][serval:BIB_40F94CC2777E]
2003
 
Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment.
Anderlid B.M., Schoumans J., Hallqvist A., Ståhl Y., Wallin A., Blennow E., Nordenskjöld M., 2003. European Journal of Human Genetics, 11 (1) pp. 89-92.
[DOI][WoS][Pmid][serval:BIB_0711E7097232]
 
Molecular cytogenetic approach to the diagnosis of splenic lymphoma: a case report of blastoid mantle cell lymphoma.
Björck E., Landgren O., Schoumans J., Christensson B., Björkholm M., MacDonald A.P., Nordenskjöld M., 2003. Leukemia and Lymphoma, 44 (7) pp. 1229-1234.
[DOI][WoS][Pmid][serval:BIB_3DF62E0CC0E1]
 
Ten years follow up of a boy with a complex chromosomal rearrangement: going from a > 5 to 15-breakpoint CCR.
Houge G., Liehr T., Schoumans J., Ness G.O., Solland K., Starke H., Claussen U., Strømme P., Akre B., Vermeulen S., 2003. American Journal of Medical Genetics. Part A, 118A (3) pp. 235-240.
[DOI][WoS][Pmid][serval:BIB_BBC327F062F1]
 
The t(1;3) breakpoint-spanning genes LSAMP and NORE1 are involved in clear cell renal cell carcinomas.
Chen J., Lui W.O., Vos M.D., Clark G.J., Takahashi M., Schoumans J., Khoo S.K., Petillo D., Lavery T., Sugimura J. et al., 2003. Cancer Cell, 4 (5) pp. 405-413.
[WoS][Pmid][serval:BIB_CF253A736654]
2002
 
FISH-mapping of a 100-kb terminal 22q13 deletion.
Anderlid B.M., Schoumans J., Annerén G., Tapia-Paez I., Dumanski J., Blennow E., Nordenskjöld M., 2002. Human Genetics, 110 (5) pp. 439-443.
[DOI][WoS][Pmid][serval:BIB_DAD8CC631571]
 
Spectral karyotyping and interphase FISH reveal abnormalities not detected by conventional G-banding. Implications for treatment stratification of childhood acute lymphoblastic leukaemia: detailed analysis of 70 cases.
Nordgren A., Heyman M., Sahlén S., Schoumans J., Söderhäll S., Nordenskjöld M., Blennow E., 2002. European Journal of Haematology, 68 (1) pp. 31-41.
[Pmid][serval:BIB_449E5B692DD5]
 
Subtelomeric rearrangements detected in patients with idiopathic mental retardation.
Anderlid B.M., Schoumans J., Annerén G., Sahlén S., Kyllerman M., Vujic M., Hagberg B., Blennow E., Nordenskjöld M., 2002. American Journal of Medical Genetics, 107 (4) pp. 275-284.
[WoS][Pmid][serval:BIB_F8E9768D0905]
2001
 
Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity.
Grigelioniene G., Schoumans J., Neumeyer L., Ivarsson A., Eklöf O., Enkvist O., Tordai P., Fosdal I., Myhre A.G., Westphal O. et al., 2001. Human Genetics, 109 (5) pp. 551-558.
[DOI][WoS][Pmid][serval:BIB_39B15A344574]
 
Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy.
Anderlid B.M., Sahlén S., Schoumans J., Holmberg E., Ahsgren I., Mortier G., Speleman F., Blennow E., 2001. American Journal of Medical Genetics, 99 (3) pp. 223-233.
[WoS][Pmid][serval:BIB_593FB3EA0F57]
 
Interphase fluorescence in situ hybridization and spectral karyotyping reveals hidden genetic aberrations in children with acute lymphoblastic leukaemia and a normal banded karyotype.
Nordgren A., Schoumans J., Söderhäll S., Nordenskjöld M., Blennow E., 2001. British Journal of Haematology, 114 (4) pp. 786-793.
[WoS][Pmid][serval:BIB_95C14844F6A0]
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