Johanna Lundin

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Articles

Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2023;66(10):104824
Tissue specific trisomy 15 mosaicism associated with urogenital malformations
Nordenskjold A; Lagerstedt-Robinson K; Anderlid B-M; Lundin J
Article: JOURNAL OF INTERNAL MEDICINE. 2020;288(1):103-115
Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27
Paucar M; Lundin J; Alshammari T; Bergendal A; Lindefeldt M; Alshammari M; Solders G; Di Re J; Savitcheva I; Granberg T; Laezza F; Iwarsson E; Svenningsson P
Article: GENOME MEDICINE. 2019;11(1):68
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
Lindstrand A; Eisfeldt J; Pettersson M; Carvalho CMB; Kvarnung M; Grigelioniene G; Anderlid B-M; Bjerin O; Gustavsson P; Hammarsjo A; Georgii-Hemming P; Iwarsson E; Johansson-Soller M; Lagerstedt-Robinson K; Lieden A; Magnusson M; Martin M; Malmgren H; Nordenskjold M; Norling A; Sahlin E; Stranneheim H; Tham E; Wincent J; Ygberg S; Wedell A; Wirta V; Nordgren A; Lundin J; Nilsson D
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2019;7(6):e666
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene
Lundin J; Markljung E; Korberg IB; Hofmeister W; Cao J; Nilsson D; Holmdahl G; Barker G; Anderberg M; Vukojevic V; Lindstrand A; Nordenskjold A
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2019;7(3):e549
Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation
Karlslatt KS; Pettersson M; Jantti N; Szafranski P; Wester T; Husberg B; Ullberg U; Stankiewicz P; Nordgren A; Lundin J; Lindstrand A; Nordenskjold A
Article: PLOS GENETICS. 2018;14(11):e1007780
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization
Nazaryan-Petersen L; Eisfeldt J; Pettersson M; Lundin J; Nilsson D; Wincent J; Lieden A; Lovmar L; Ottosson J; Gacic J; Makitie O; Nordgren A; Vezzi F; Wirta V; Kaller M; Hjortshoj TD; Jespersgaard C; Houssari R; Pignata L; Bak M; Tommerup N; Lundberg ES; Tumer Z; Lindstrand A
Article: MUTATION RESEARCH - FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS. 2018;812:1-4
Flanking complex copy number variants in the same family formed through unequal crossing-over during meiosis
Pettersson M; Eisfeldt J; Lundberg ES; Lundin J; Lindstrand A
Article: ONCOTARGET. 2018;9(13):11170-11179
Two novel colorectal cancer risk loci in the region on chromosome 9q22.32.
Thutkawkorapin J; Mahdessian H; Barber T; Picelli S; von Holst S; Lundin J; Valle L; Kontham V; Liu T; Nilsson D; Jiao X; Lindblom A
Article: JOURNAL OF TISSUE ENGINEERING AND REGENERATIVE MEDICINE. 2018;12(2):E720-E726
Study on genetic stability in human urothelial cells in vitro
Chamorro CI; Zeiai S; Engberg GR; Brodin D; Lundin J; Nordenskjold A; Fossum M
Article: HUMAN GENOME VARIATION. 2018;5:18009
Evaluation of the ISL1 gene in the pathogenesis of bladder exstrophy in a Swedish cohort
Arkani S; Cao J; Lundin J; Nilsson D; Kallman T; Barker G; Holmdahl G; Kockum CC; Matsson H; Nordenskjold A
Article: ONCOTARGET. 2017;8(61):102769-102782
PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1
Jiao X; Aravidis C; Marikkannu R; Rantala J; Picelli S; Adamovic T; Liu T; Maguire P; Kremeyer B; Luo L; Von Holst S; Kontham V; Thutkawkorapin J; Margolin S; Du Q; Lundin J; Michailidou K; Bolla MK; Wang Q; Dennis J; Lush M; Ambrosone CB; Andrulis IL; Anton-Culver H; Antonenkova NN; Arndt V; Beckmann MW; Blomqvist C; Blot W; Boeckx B; Bojesen SE; Bonanni B; Brand JS; Brauch H; Brenner H; Broeks A; Bruning T; Burwinkel B; Cai Q; Chang-Claude J; Couch FJ; Cox A; Cross SS; Deming-Halverson SL; Devilee P; dos-Santos-Silva I; Dork T; Eriksson M; Fasching PA; Figueroa J; Flesch-Janys D; Flyger H; Gabrielson M; Garcia-Closas M; Giles GG; Gonzalez-Neira A; Guenel P; Guo Q; Gundert M; Haiman CA; Hallberg E; Hamann U; Harrington P; Hooning MJ; Hopper JL; Huang G; Jakubowska A; Jones ME; Kerin MJ; Kosma V-M; Kristensen VN; Lambrechts D; Le Marchand L; Lubinski J; Mannermaa A; Martens JWM; Meindl A; Milne RL; Mulligan AM; Neuhausen SL; Nevanlinna H; Peto J; Pylkas K; Radice P; Rhenius V; Sawyer EJ; Schmidt MK; Schmutzler RK; Seynaeve C; Shah M; Simard J; Southey MC; Swerdlow AJ; Truong T; Wendt C; Winqvist R; Zheng W; Benitez J; Dunning AM; Pharoah PDP; Easton DF; Czene K; Hall P; Lindblom A
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2017;25(8):946-951
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
Weiss K; Wigby K; Fannemel M; Henderson LB; Beck N; Ghali N; Anderlid B-M; Lundin J; Hamosh A; Jones MC; Ghedia S; Muenke M; Kruszka P
Article: CLINICAL IMMUNOLOGY. 2017;176:71-76
NEIL1 is a candidate gene associated with common variable immunodeficiency in a patient with a chromosome 15q24 deletion
Romano R; Zaravinos A; Liadaki K; Caridha R; Lundin J; Carlsson G; Winiarski J; Pan-Hammarstrom Q; Hammarstrom L
Article: HUMAN MOLECULAR GENETICS. 2015;24(18):5069-5078
WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish
Korberg IB; Hofmeister W; Markljung E; Cao J; Nilsson D; Ludwig M; Draaken M; Holmdahl G; Barker G; Reutter H; Vukojevic V; Kockum CC; Lundin J; Lindstrand A; Nordenskjold A
Article: EUROPEAN JOURNAL OF PEDIATRIC SURGERY. 2014;24(4):353-359
A Case with Bladder Exstrophy and Unbalanced X Chromosome Rearrangement
Soderhall C; Lundin J; Lagerstedt-Robinson K; Grigelioniene G; Lackgren G; Kockum CC; Nordenskjold A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2014;164(2):425-431
Small Mosaic Deletion Encompassing the snoRNAs and SNURF-SNRPN Results in an Atypical Prader-Willi Syndrome Phenotype
Anderlid B-M; Lundin J; Malmgren H; Lehtihet M; Nordgren A
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2013;21(10):1085-1092
Molecular and clinical delineation of the 17q22 microdeletion phenotype
Laurell T; Lundin J; Anderlid B-M; Gorski JL; Grigelioniene G; Knight SJL; Krepischi ACV; Nordenskjold A; Price SM; Rosenberg C; Turnpenny PD; Vianna-Morgante AM; Nordgren A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2012;158A(5):1111-1117
Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter- and intra-individual variation and correlation to the phenotype
Kvarnung M; Lindstrand A; Malmgren H; Thastrom A; Jacobson L; Dahl N; Lundin J; Blennow E
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2010;152A(9):2277-2286
Chimerism Resulting From Parthenogenetic Activation and Dispermic Fertilization
Winberg J; Gustavsson P; Lagerstedt-Robinson K; Blennow E; Lundin J; Iwarsson E; Nordenstrom A; Anderlid B-M; Bondeson M-L; Nordenskjold A; Nordgren A
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2010;53(3):122-126
Mutational study of the MAMLD1-gene in hypospadias
Chen Y; Thai HTT; Lundin J; Lagerstedt-Robinson K; Zhao S; Markljung E; Nordenskjold A
Article: JOURNAL OF MEDICAL GENETICS. 2010;47(5):299-311
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes
Bruno DL; Anderlid B-M; Lindstrand A; van Ravenswaaij-Arts C; Ganesamoorthy D; Lundin J; Martin CL; Douglas J; Nowak C; Adam MP; Kooy RF; Van der Aa N; Reyniers E; Vandeweyer G; Stolte-Dijkstra I; Dijkhuizen T; Yeung A; Delatycki M; Borgstrom B; Thelin L; Cardoso C; van Bon B; Pfundt R; de Vries BBA; Wallin A; Amor DJ; James PA; Slater HR; Schoumans J
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2010;53(2):61-65
22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment
Lundin J; Soderhall C; Lunden L; Hammarsjo A; White I; Schoumans J; Lackgren G; Kockum CC; Nordenskjold A
Article: BRITISH JOURNAL OF CANCER. 2009;100(10):1674-1679
TGFBR1 variants TGFBR1*6A and Int7G24A are not associated with an increased familial colorectal cancer risk
Lundin JS; Vandrovcova J; Song B; Zhou X; Zelada-Hedman M; Werelius B; Houlston RS; Lindblom A
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2009;52(2-3):77-87
Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals
Bijlsma EK; Gijsbers ACJ; Schuurs-Hoeijmakers JHM; van Haeringen A; van de Putte DEF; Anderlid B-M; Lundin J; Lapunzina P; Perez Jurado LA; Delle Chiaie B; Loeys B; Menten B; Oostra A; Verhelst H; Amor DJ; Bruno DL; van Essen AJ; Hordijk R; Sikkema-Raddatz B; Verbruggen KT; Jongmans MCJ; Pfundt R; Reeser HM; Breuning MH; Ruivenkamp CAL
Article: HUMAN GENETICS. 2008;124(2):155-160
A new susceptibility locus for hypospadias on chromosome 7q32.2-q36.1
Thai HTT; Soderhall C; Lagerstedt K; Omrani MD; Frisen L; Lundin J; Kockum I; Nordenskjold A
Article: BMC CANCER. 2008;8:87
Genome-wide linkage scan for colorectal cancer susceptibility genes supports linkage to chromosome 3q
Picelli S; Vandrovcova J; Jones S; Djureinovic T; Skoglund J; Zhou X-L; Velculescu VE; Vogelstein B; Lindblom A
Article: BRITISH JOURNAL OF CANCER. 2007;97(8):1175-1179
TGFBR1*6A and Int7G24A variants of transforming growth factor-β receptor 1 in Swedish familial and sporadic breast cancer
Song B; Margolin S; Skoglund J; Zhou X; Rantala J; Picelli S; Werelius B; Lindblom A
Article: CLINICAL CANCER RESEARCH. 2007;13(12):3748-3752
Lack of an association between the TGFBR1*6A variant and colorectal cancer risk
Skoglund J; Song B; Dalen J; Dedorson S; Edler D; Hjern F; Holmo J; Lenander C; Lindforss U; Lundqvist N; Olivecrona H; Olsson L; Pahlman L; Rutegard J; Smedh K; Toernqvist A; Houlston RS; Lindblom A
Article: ANTICANCER RESEARCH. 2006;26(4B):3077-3081
The estrogen receptor alpha C975G variant in familial and sporadic breast cancer: A case-control study
Skoglund J; Margolin S; Zhou X-L; Maguire P; Werelius B; Lindblom A
Article: GUT. 2006;55(3):362-366
A genome wide linkage analysis in Swedish families with hereditary non-familial adenomatous polyposis/non-hereditary non-polyposis colorectal cancer
Djureinovic T; Skoglund J; Vandrovcova J; Zhou XL; Kalushkova A; Iselius L; Lindblom A
Article: JOURNAL OF MEDICAL GENETICS. 2006;43(2):e7-e07
Linkage analysis in a large Swedish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 9q22.32-31.1
Skoglund J; Djureinovic T; Zhou XL; Vandrovcova J; Renkonen E; Iselius L; Bisgaard ML; Peltomäki P; Lindblom A
Article: BREAST CANCER RESEARCH AND TREATMENT. 2005;94(2):145-152
Estrogen receptor beta (ESR2) polymorphisms in familial and sporadic breast cancer
Maguire P; Margolin S; Skoglund J; Sun XF; Gustafsson J; Borresen-Dale AL; Lindblom A
Article: ONCOLOGY. 2004;67(1):67-72
Clinicopathological significance of stromelysin-3 expression in colorectal cancer.
Skoglund J; Emterling A; Arbman G; Anglard P; Sun X-F
Article: ONCOLOGY. 2003;64(4):361-369
Clinicopathological significance of Nup88 expression in patients with colorectal cancer.
Emterling A; Skoglund J; Arbman G; Schneider J; Evertsson S; Carstensen J; Zhang H; Sun X-F
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All other publications

Review: EXPERT REVIEW OF ANTICANCER THERAPY. 2004;4(3):377-385
Colorectal cancer as a complex disease: defining at-risk subjects in the general population - a preventive strategy.
Lindblom A; Zhou X-L; Liu T; Liljegren A; Skoglund J; Djureinovic T; Swedish Low-Risk Colorectal Cancer Group

Employments

Affiliated to Research, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2024-2027

Degrees and Education

Doctor Of Philosophy, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2007
Master Of Medical Science, Karolinska Institutet, 2002

Supervisor

Samara Arkani, Molecular and epidemiological studies of bladder exstrophy and epispadias complex, https://dspace.kib.ki.se/xmlui/handle/10616/48566
Maria Pettersson, STRUCTURAL GENOMIC VARIATION IN HUMAN DISEASE, https://openarchive.ki.se/articles/thesis/Structural_genomic_variation_in_human_disease/26917915?file=48962779

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