Erik Iwarsson

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About me

Associate Professor of Medical Genetics at Karolinska Institutet and Senior Consultant at the Department of Clinical
Genetics , Karolinska University Hospital. PhD in Medical genetics (on Preimplantatione genetic testing - PGT) from KI. Both clinical and research work have focused on Prenatal Diagnosis and PGT. Present research focus on new molecular tools for prenatal diagnosis including cell-free DNA (NIPT), prenatal genomics and screening for chromosome aberrations.

Articles

Article: ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2024

Whole-genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting.

Westenius E; Conner P; Pettersson M; Sahlin E; Papadogiannakis N; Lindstrand A; Iwarsson E
Article: ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2022;60(4):487-493

Diagnostic yield using whole-genome sequencing and in-silico panel of 281 genes associated with non-immune hydrops fetalis in clinical setting.

Westenius E; Sahlin E; Conner P; Lindstrand A; Iwarsson E
Article: GENOME MEDICINE. 2021;13(1):40

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Stranneheim H; Lagerstedt-Robinson K; Magnusson M; Kvarnung M; Nilsson D; Lesko N; Engvall M; Anderlid B-M; Arnell H; Johansson CB; Barbaro M; Björck E; Bruhn H; Eisfeldt J; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjö A; Hellström-Pigg M; Iwarsson E; Jemt A; Laaksonen M; Enoksson SL; Malmgren H; Naess K; Nordenskjöld M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Sardh E; Stödberg T; Tesi B; Tham E; Thonberg H; Töhönen V; von Döbeln U; Vassiliou D; Vonlanthen S; Wikström A-C; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterström RH; Marits P; Soller MJ; Nordgren A; Wirta V; Lindstrand A; Wedell A
Article: MOLECULAR CYTOGENETICS. 2020;13(1):51

Confined placental mosaicism of Duchenne muscular dystrophy: a case report.

Winerdal M; Westenius E; Granfors M; Pettersson M; Iwarsson E
Article: EBIOMEDICINE. 2020;59:102872

Fetal HLA-G mediated immune tolerance and interferon response in preeclampsia.

Wedenoja S; Yoshihara M; Teder H; Sariola H; Gissler M; Katayama S; Wedenoja J; Häkkinen IM; Ezer S; Linder N; Lundin J; Skoog T; Sahlin E; Iwarsson E; Pettersson K; Kajantie E; Mokkonen M; Heinonen S; Laivuori H; Krjutškov K; Kere 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 Å; Lindefeldt M; Alshammari M; Solders G; Di Re J; Savitcheva I; Granberg T; Laezza F; Iwarsson E; Svenningsson P
Article: PRENATAL DIAGNOSIS. 2020;40(7):852-859

Detection rates and residual risk for a postnatal diagnosis of an atypical chromosome aberration following combined first-trimester screening.

Iwarsson E; Conner P
Article: ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA. 2020;99(6):716-721

Preimplantation genetic testing legislation and accessibility in the Nordic countries.

Hreinsson J; Lundin K; Iwarsson E; Hausken J; Einarsson S; Grøndahl ML; Hydén-Granskog C; Ingerslev HJ
Article: ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA. 2020;99(6):707-715

Preimplantation genetic testing practices in the Nordic countries.

Hreinsson J; Iwarsson E; Hanson C; Grøndahl ML; Løssl K; Hydén-Granskog C; Ingerslev HJ; PGT study group
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; Hammarsjö A; Georgii-Hemming P; Iwarsson E; Johansson-Soller M; Lagerstedt-Robinson K; Lieden A; Magnusson M; Martin M; Malmgren H; Nordenskjöld M; Norling A; Sahlin E; Stranneheim H; Tham E; Wincent J; Ygberg S; Wedell A; Wirta V; Nordgren A; Lundin J; Nilsson D
Article: PLOS ONE. 2019;14(1):e0210017

Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.

Sahlin E; Gréen A; Gustavsson P; Liedén A; Nordenskjöld M; Papadogiannakis N; Pettersson K; Nilsson D; Jonasson J; Iwarsson E
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2018;33(4):753-760

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.

Leal GF; Nishimura G; Voss U; Bertola DR; Åström E; Svensson J; Yamamoto GL; Hammarsjö A; Horemuzova E; Papadiogannakis N; Iwarsson E; Grigelioniene G; Tham E
Article: JOURNAL OF RISK RESEARCH. 2018;21(2):117-128

Mapping uncertainty in genomics

Howard HC; Iwarsson E
Article: JOURNAL OF GENETIC COUNSELING. 2017;26(3):447-454

Knowledge and Attitudes Regarding Non-Invasive Prenatal Testing (NIPT) and Preferences for Risk Information among High School Students in Sweden.

Georgsson S; Sahlin E; Iwarsson M; Nordenskjöld M; Gustavsson P; Iwarsson E
Article: LAKARTIDNINGEN. 2017;114:EHTE

[NIPT – implentation, counselling and ethical issues].

Ingvoldstad Malmgren C; Iwarsson E; Juth N; Lindgren P
Article: PLOS ONE. 2016;11(5):e0156088

Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women.

Sahlin E; Nordenskjöld M; Gustavsson P; Wincent J; Georgsson S; Iwarsson E
Article: GENOMICS. 2015;105(3):150-158

Amplification-free sequencing of cell-free DNA for prenatal non-invasive diagnosis of chromosomal aberrations.

Karlsson K; Sahlin E; Iwarsson E; Westgren M; Nordenskjöld M; Linnarsson S
Article: MOLECULAR CYTOGENETICS. 2015;8:67

Disomy 21 in spermatozoa and the paternal origin of trisomy 21 Down syndrome.

Iwarsson E; Kvist U; Hultén MA
Article: PLOS ONE. 2015;10(4):e0123343

Fetal calcifications are associated with chromosomal abnormalities.

Sahlin E; Sirotkina M; Marnerides A; Iwarsson E; Papadogiannakis N
Article: HUMAN REPRODUCTION. 2014;29(8):1818-1827

Identification of a duplication within the GDF9 gene and novel candidate genes for primary ovarian insufficiency (POI) by a customized high-resolution array comparative genomic hybridization platform.

Norling A; Hirschberg AL; Rodriguez-Wallberg KA; Iwarsson E; Wedell A; Barbaro M
Article: ORPHANET JOURNAL OF RARE DISEASES. 2014;9:74

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.

Del Giudice E; Macca M; Imperati F; D'Amico A; Parent P; Pasquier L; Layet V; Lyonnet S; Stamboul-Darmency V; Thauvin-Robinet C; Franco B; Oral-Facial-Digital Type I (OFD1) Collaborative Gr
Article: JOURNAL OF CLINICAL MEDICINE. 2014;3(1):167-175

Maternal Germinal Trisomy 21 in Down Syndrome.

Hultén MA; Öijerstedt L; Iwarsson E; Jonasson J
Article: FETAL DIAGNOSIS AND THERAPY. 2014;36(4):326-332

Molecular and cytogenetic analysis in stillbirth: results from 481 consecutive cases.

Sahlin E; Gustavsson P; Liedén A; Papadogiannakis N; Bjäreborn L; Pettersson K; Nordenskjöld M; Iwarsson E
Article: PLOS ONE. 2014;9(1):e85313

Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association.

Winberg J; Gustavsson P; Papadogiannakis N; Sahlin E; Bradley F; Nordenskjöld E; Svensson P-J; Annerén G; Iwarsson E; Nordgren A; Nordenskjöld A
Article: SEXUAL DEVELOPMENT. 2014;8(4):146-150

No mutations in the PSMC3IP gene identified in a Swedish cohort of women with primary ovarian insufficiency.

Norling A; Hirschberg AL; Karlsson L; Rodriguez-Wallberg KA; Iwarsson E; Wedell A; Barbaro M
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2013;56(12):661-668

Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platform.

Norling A; Lindén Hirschberg A; Iwarsson E; Persson B; Wedell A; Barbaro M
Article: STEM CELLS. 2013;31(3):592-601

Fetal membrane cells for treatment of steroid-refractory acute graft-versus-host disease.

Ringdén O; Erkers T; Nava S; Uzunel M; Iwarsson E; Conrad R; Westgren M; Mattsson J; Kaipe H
Article: FERTILITY AND STERILITY. 2013;99(3):819-826.e3

CBX2 gene analysis in patients with 46,XY and 46,XX gonadal disorders of sex development.

Norling A; Hirschberg AL; Iwarsson E; Wedell A; Barbaro M
Article: CYTOGENETIC AND GENOME RESEARCH. 2013;139(3):189-192

Trisomy 21 mosaicism: we may all have a touch of Down syndrome.

Hultén MA; Jonasson J; Iwarsson E; Uppal P; Vorsanova SG; Yurov YB; Iourov IY
Article: PEDIATRIC AND DEVELOPMENTAL PATHOLOGY. 2012;15(6):511-513

Fetal mediastinal tumor of neuroepithelial origin in a case of missed abortion.

Sirotkina M; Iwarsson E; Marnerides A; Papadogiannakis N
Article: SEMINARS IN FETAL & NEONATAL MEDICINE. 2011;16(2):74-80

Preimplantation genetic diagnosis: twenty years of practice.

Iwarsson E; Malmgren H; Blennow E
Article: CURRENT GENOMICS. 2010;11(6):409-419

Germinal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About?

Hultén MA; Jonasson J; Nordgren A; Iwarsson 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; Nordenström A; Anderlid B-M; Bondeson M-L; Nordenskjöld A; Nordgren A
Article: MOLECULAR CYTOGENETICS. 2010;3:4

On the paternal origin of trisomy 21 Down syndrome.

Hultén MA; Patel SD; Westgren M; Papadogiannakis N; Jonsson AM; Jonasson J; Iwarsson E
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2009;149A(8):1706-1711

Jumping translocation in a phenotypically normal male: A study of mosaicism in spermatozoa, lymphocytes, and fibroblasts.

Iwarsson E; Sahlén S; Nordgren A
Article: HUMAN MUTATION. 2008;29(10):1237-1246

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.

Prattichizzo C; Macca M; Novelli V; Giorgio G; Barra A; Franco B; Oral-Facial-Digital Type I (OFDI) Collaborative Gr
Article: MOLECULAR CYTOGENETICS. 2008;1:21

On the origin of trisomy 21 Down syndrome.

Hultén MA; Patel SD; Tankimanova M; Westgren M; Papadogiannakis N; Jonsson AM; Iwarsson E
Article: NEUROMUSCULAR DISORDERS. 2008;18(8):681-684

Expanded HSAN4 phenotype associated with two novel mutations in NTRK1.

Wieczorek S; Bergström J; Sääf M; Kötting J; Iwarsson E
Article: AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY. 2008;198(2):231.e1-231.e7

Lack of aneuploidy for chromosomes 15, 16, and 18 in placentas from small-for-gestational-age liveborn infants.

Papadogiannakis N; Iwarsson E; Taimi T; Zaphiropoulos PG; Westgren M
Article: NATURE GENETICS. 2007;39(9):1134-1139

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.

Nicot A-S; Toussaint A; Tosch V; Kretz C; Wallgren-Pettersson C; Iwarsson E; Kingston H; Garnier J-M; Biancalana V; Oldfors A; Mandel J-L; Laporte J
Article: MOLECULAR HUMAN REPRODUCTION. 2006;12(5):353-356

PGD for dystrophin gene deletions using fluorescence in situ hybridization.

Malmgren H; White I; Johansson S; Levkov L; Iwarsson E; Fridström M; Blennow E
Article: PRENATAL DIAGNOSIS. 2001;21(9):781-787

Clinical outcome of treatment cycles using preimplantation genetic diagnosis for structural chromosomal abnormalities.

Fridström M; Ahrlund-Richter L; Iwarsson E; Malmgren H; Inzunza J; Rosenlund B; Sjöblom P; Nordenskjöld M; Blennow E; Hovatta O
Article: PRENATAL DIAGNOSIS. 2000;20(13):1038-1047

Highly abnormal cleavage divisions in preimplantation embryos from translocation carriers.

Iwarsson E; Malmgren H; Inzunza J; Ahrlund-Richter L; Sjöblom P; Rosenlund B; Fridström M; Hovatta O; Nordenskjöld M; Blennow E
Article: HUMAN GENETICS. 1999;104(5):376-382

A high degree of aneuploidy in frozen-thawed human preimplantation embryos.

Iwarsson E; Lundqvist M; Inzunza J; Ahrlund-Richter L; Sjöblom P; Lundkvist O; Simberg N; Nordenskjöld M; Blennow E
Article: PRENATAL DIAGNOSIS. 1998;18(13):1381-1388

Application of single-needle blastomere biopsy in human preimplantation genetic diagnosis.

Inzunza J; Iwarsson E; Fridström M; Rosenlund B; Sjöblom P; Hillensjö T; Blennow E; Jones B; Nordenskjöld M; Ahrlund-Richter L
Article: MOLECULAR HUMAN REPRODUCTION. 1998;4(9):871-875

Preimplantation genetic diagnosis of DiGeorge syndrome.

Iwarsson E; Ahrlund-Richter L; Inzunza J; Fridström M; Rosenlund B; Hillensjö T; Sjöblom P; Nordenskjöld M; Blennow E
Article: MOLECULAR HUMAN REPRODUCTION. 1998;4(7):719-723

Preimplantation genetic diagnosis of a large pericentric inversion of chromosome 5.

Iwarsson E; Ahrlund-Richter L; Inzunza J; Rosenlund B; Fridström M; Hillensjö T; Sjöblom P; Nordenskjöld M; Blennow E
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All other publications

Letter: ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2022;60(4):586

Reply.

Westenius E; Sahlin E; Conner P; Lindstrand A; Iwarsson E
Letter: LAKARTIDNINGEN. 2017;114:ERHT

Replik från SFOG: - Ultraljud och NIPT till alla är önskvärt, men inte realistiskt.

Lindgren P; Ingvoldstad Malmgren C; Juth N; Iwarsson E; Herbst A; Jacobsson B
Review: ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA. 2017;96(1):7-18

Analysis of cell-free fetal DNA in maternal blood for detection of trisomy 21, 18 and 13 in a general pregnant population and in a high risk population - a systematic review and meta-analysis.

Iwarsson E; Jacobsson B; Dagerhamn J; Davidson T; Bernabé E; Heibert Arnlind M
Review: LAKARTIDNINGEN. 2016;113:DXMP

[NIPT is a breakthrough in prenatal diagnostics].

Jacobsson B; Munthe C; Saltvedt S; Carlsson Y; Lindgren P; Iwarsson E
Letter: PRENATAL DIAGNOSIS. 2012;32(12):1221

Comment on "Origin of trisomy: no evidence to support the ovarian mosaicism theory".

Hulten MA; Jonasson J; Westgren M; Jonsson AM; Papadogiannakis N; Iwarsson E
Review: REPRODUCTION. 2010;139(1):1-9

On the origin of the maternal age effect in trisomy 21 Down syndrome: the Oocyte Mosaicism Selection model.

Hultén MA; Patel S; Jonasson J; Iwarsson E
Meeting abstract: NEUROMUSCULAR DISORDERS. 2007;17(9-10):833

Update on congenital muscular dystrophies and congenital myopathies: Oral presentations

Nicot A; Toussaint A; Tosch V; Kretz C; Wallgren-Pettersson C; Iwarsson E; Kingston H; Garnier J; Biancalana V; Mandel J; Laporte J
Review: LAKARTIDNINGEN. 1997;94(35):2919-2922

[Preimplantation genetic diagnosis. An alternative to traditional prenatal diagnosis].

Iwarsson E; Blennow ES; Anvret M; Nordenskjöld M; Inzunza J; Ahrlund-Richter L; Pousette A; Hillensjó T; Fridström M; Rosenlund B; Sjöblom P

Employments

Affiliated to Research, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2022-2025

Degrees and Education

Docent, Karolinska Institutet, 2012
Doctor Of Philosophy, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2000
University Medical Degree, Karolinska Institutet, 1995

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