Ann Nordgren

Ann Nordgren

Adjungerad Professor
E-postadress: ann.nordgren@ki.se
Besöksadress: Karolinska Institutet, BioClinicum J10:20, Visionsgatan 4, 17164 Solna
Postadress: K1 Molekylär medicin och kirurgi, K1 MMK Sällsynta diagnoser, 171 76 Stockholm
Del av:

Om mig


  • Adjungerad professor i klinisk genetik
    Forskargruppsledare för gruppen Sällsynta diagnoser, Institutionen för
    molekylär medicin och kirurgi [1]
    [1] https://ki.se/mmk/sallsynta-diagnoser

    Professor i klinisk genetik, Sahlgrenska Akademin/Sahlgrenska Universitetssjukhuset

Forskningsbeskrivning

  • Sällsynta diagnoser

    Barncancerpredisposition

    Intellektuell funktionsnedsättning

    Missbildningar

    Syndromutredning

    Fenotypning

    Cytogenetik

    Genomik

    Epigenetik

Undervisning

  • Ämnesföreträdare - Klinisk genetik på läkarprogrammet i Göteborg

    Föreläser på grundutbildningen för läkare om Sällsynta diagnoser och Syndromutredning

    Utformat ST-kurs Sällsynta diagnoser som ges med jämna mellanrum.

    Föreläser regelbundet för ST-läkare och specialister inom pediatrik om syndromdiagnostik och barncancer predisposition samt om specifika genetiska syndrom

    Föreläser regelbundet på familjevistelser och patientträffar.

    Skrivit kapitel om syndromdiagnostik i läroboken "Genetiska sjukdomar" samt kapitel om specifika diagnoser i Socialstyrelsens databas för Sällsynta Hälsotillstånd

Utvalda publikationer

Artiklar

Alla övriga publikationer

Utvalda forskningsbidrag

  • Swedish Research Council
    1 December 2025 - 30 November 2029
    The aim of our research is to reduce mortality and severe late effects of childhood cancer by studying childhood cancer predisposition. The goal is to identify genetic alterations that predispose individuals to childhood cancer and to improve care for these patients through precision diagnostics, prevention, targeted treatments, and genetic counseling.We use modern omics-based approaches to study both germline and cancer cells, combined with questionnaires, detailed phenotyping and registry-based studies where we have ethical approval to add omics data to the dataset. We will perform long-read sequencing to look for virus sequences close to oncogenes and, in collaboration with Janne Lehtiö, look for neoantigens in tumor cells, as potential biomarkers and targets for vaccine development. We have created a unique dataset in which genetic data from hospital laboratories have been linked to population-based registry data (16.1M Swedes). We will now add genomics data to the dataset and perform both traditional epidemiological methods and machine learning to look for novel childhood cancer genes and find novel associations to disease and late side effects. Our research has the potential to find novel cancer predisposition syndromes, treatment targets and to improve diagnostic methods that can be quickly integrated into clinical practice.
  • Hjärnfonden
    1 July 2025 - 1 July 2027
    i) Frågeställning: Vilka långsiktiga effekter har olika genetiskt orsakade syndrom med IF på individers fysiska och psykiska hälsa ur ett hela livet perspektiv? Kan vi ha nytta av artificiell intelligens (AI) för att förbättra diagnostiken och hitta nya sjukdomsassociationer? ii) Metoder: Vi kommer att samla in DNA och utföra helgenomsekvensering på äldre individer med odiagnosticerade IF-syndrom. Vi vill även utveckla ett billigt och bra sätt att testa tusentals vuxna med IF på DNA från filterpapper och sedan koppla genetiska resultat till hälsodata och demografiska data. Medicinska undersökningar och neuropsykologiska tester kommer att utföras. Vissa kognitiva och motoriska tester genomförs i en spelmiljö på surfplatta med ett spel som vi har utvecklat i forskargruppen.. VI har ett forskningsregister där vi länkat samman genetiska resultat med Nationella hälsodata och demografiska data. Totalt sträcker sig datauttaget fram till 2019 och innehåller hela Sveriges levande och historiska population som länkats till Socialstyrelsens olika register. Det finns totalt 56 000 personer registrerade med IF i vårt uttag. Erfarna AI forskare i gruppen skall använda Transformers som är en avancerad AI-arkitektur som används inom naturlig språkbehandling och generativ AI för att analysera stora mängder data. Vi skall studera registerdata i kombination med genomikdata för att förbättra diagnostiken och hitta nya mönster. Även traditionella epidemiologiska metoder kommer att användas iii) Förväntade resultat/vetenskaplig betydelse: Genom att diagnosticera och undersöka äldre individer med genetiskt betingad IF hoppas vi kunna accelerera kunskapsutvecklingen och fylla viktiga kunskapsluckor, särskilt kring risker och associerade sjukdomar hos vuxna. Problemet med många sällsynta diagnoser är att de diagnosticerats hos barn med genteknik som infördes för 10-15 år sedan och att vuxna aldrig erbjudits dessa analyser. Genom att koppla genetiska fynd till populationsbaserade register kan vi utföra studier som tidigare inte kunnat utföras på grund av att ICD koder saknas för flertalet sällsynta diagnoser. Vi kommer att få en ökad kunskap om olika symtom och risker som kan uppkomma under livet vid olika sällsynta diagnoser, exempelvis psykiska sjukdomar, stroke, demens eller cancer. Förhoppningsvis kommer vår forskning att leda till en förbättrad diagnostik och mer skräddarsydd vård för individer med IF vilket i sin tur att kan leda till en förbättrad livskvalitet.
  • Molecular and Epidemiological studies of Childhood Cancer predisposition
    Cancerföreningen i Stockholm
    1 April 2025 - 31 December 2027
    Mål: Vi vill förstå varför barn får cancer och hitta sätt att bota fler och förbättra livskvaliten för överlevare med barncancer. Frågeställningar: Kan vi med modern genteknik och registerstudier identifiera nya och tidigare kända tillstånd med barncancerpredisposition? Hur påverkar medfödda genetiska tillstånd prognos, behandlingssvar och risken för sena effekter? Kan vi hitta nya behandlingsmål? Kan vi genom att kombinera registerdata med genomdata och AI/Maskininlärning hitta nya cancerassociationer och få en ökad kunskap om etiologi, överlevnad och senkomplikationer? Bakgrund: Medfödda genetiska förändringar kan påverka prognosen negativt genom att påverka behandlingssvar och öka risken för terapirelaterade svåra biverkningar. Sökanden är koordinator för en nationell studie GMS – Barncancerpredisposition som under året har lett fram till att alla barn med cancer i Sverige nu utreds avseende cancerpredisposition inom klinisk rutin. Metoder: a.Genetiska analyser: Helgenom trio short-read sekvensering RNA sekvensering, och metyleringsarrayer. Barn med medfödda strukturella rearrangemang skall undersökas med long-read sekvensering.. b.Registerstudier med klassiska epidemiologiska metoder och maskininlärning: Sökanden är registerhållare för ”RADICA” – ett datauttag som innehåller 19 000 barncancerfall, >14 000 individer med molekylärt verifierade diagnoser samt 16.1 M kontroller med information inhämtad från Svenska barncancerregistret, Socialstyrelsens hälsodataregister, Karolinska Universitetslaboratoriet och Statistiska centralbyråns populationsregister. Betydelse: Projektet kommer att leda till att fler barn får en korrekt diagnos och kan erbjudas riktad behandling och uppföljning. Om vi kan kombinera genomikdata med populationsbaserade register och svenska barncancerregistret kan vi få en ökad förståelse för olika biomarkörers, terapiers och genetiska förändringars betydelse för överlevnad och sena komplikationer vid barncancer.
  • Barncancerfonden
    1 January 2025 - 31 December 2025
  • Cancerfonden
    1 January 2025 - 31 December 2027
    Today, around 85% of all children with cancer cases are cured, but approximately 70% suffer from late side effects.We aim to investigate childhood cancer predisposition through different approaches: 1. Comprehensive multi-omics analyses of WGS trios, and WGS longread, RNA seq, and methylation array data. 2. By screening children with WGS gene panel. 3. By traditional registry studies using classical epidemiological methods and/or machine learning. 4. By machine learning, where genomic data from 800 children with cancer is combined with Swedish population and health registers and the Swedish Childhood Cancer Registry. Our goals are : • To identify new syndromes that cause childhood cancer predisposition. • To find predictive markers that enables precision medicine so that more children are diagnosed and cured with tailored treatments and the risk of serious late side effects is reduced. • To determine if childhood cancer predisposition is overrepresented among children who have died from cancer or experienced second cancers. • To find novel cancer associations and risks • To demonstrate the enormous potential for future precision medicine in combining genomic data with healthcare data, data from quality registers, and Swedish health and population data. We aim to gain a better understanding of why cancer occurs and the significance of different biomarkers, therapies, and genetic changes, for survival and late complications.
  • Barncancerfonden
    1 January 2024 - 31 December 2024
  • Swedish Cancer Society
    1 January 2023
    Research has in recent years shown that between 10-15% of all children with cancer have a congenital genetic change. This applies above all to children with adult tumors, various forms of cancer, close relatives affected by childhood cancer, children who have reacted with severe side effects of cancer treatment and children with malformations, overgrowth syndrome or other rare diseases. Congenital genetic changes can negatively affect prognosis by affecting treatment response and increasing the risk of therapy-related severe side effects. Such complications may in turn be possible to avoid if the congenital diagnosis is detected in time. All different forms of childhood cancer are studied using genetic analyzes with whole genome sequencing and epidemiological studies where we also use AI and machine learning. The project is about improving genetic diagnostics and introducing whole genome sequencing regarding congenital genetic changes in clinical routine. The project affects both diagnostics, treatment and prevention and will lead to more children being offered precision medicine with targeted treatments and that treatment complications can be avoided and new treatment targets can be identified. In addition, preventive screening programs can be offered to relatives at risk of cancer. We want to understand why children get cancer and understand the mechanisms of its occurrence and find ways to improve survival and quality of life for survivors of childhood cancer and their relatives. We want to try to answer the following questions. Is the incidence of childhood cancer higher in specific genetic syndromes? Is cancer more common in families with a child with cancer and how big is the risk for relatives? Are congenital genetic abnormalities detected in cancer cells at diagnosis correlated to prognosis, treatment outcome, infectious diseases, seasons and geographic locations? Can we find new disease and cancer associations?
  • Barncancerfonden
    1 January 2022 - 31 December 2022
  • Swedish Research Council
    1 December 2021 - 31 December 2025
  • Swedish Cancer Society
    1 January 2020
    In recent years, research has shown that more than 10% of all children affected by cancer have congenital genetic changes as a contributing cause of their disease. This is especially true for children with rare tumors that normally only occur in adults, children who suffer from several different cancers, children with several close relatives who suffered from cancer at an early age, children who suffer from abnormally severe side effects of cancer treatment and children with cancer and malformations, overgrowth syndrome, epilepsy, intellectual disability, autism, or other rare disease. It is important to find these patients as it can save lives. We want to introduce diagnostics into clinical routine to look for known and new congenital genetic abnormalities and then compare them with genetic abnormalities in cancer cells in people with cancer, children whose cancer type or side effect profile gives strong suspicion of congenital genetic causes and people who included in families where more than one child has been affected by cancer. We want to use new DNA and RNA based methods that are based on sequencing of the entire human genome. In cases where we find new suspected cancer-associated genes, we will proceed with various functional studies in animal models and cells from patients. I want to identify patients who need a tailored treatment and understand the mechanisms of emergence and find new disease genes behind the syndrome and cancer. Increased knowledge about familial cancer and why certain syndromes are associated with cancer risk and increased sensitivity to cytotoxic drugs and radiation is important and will lead to improved care, tailored therapies and opportunities to implement preventive measures in the affected individual and his family. . The research also leads to increased knowledge about childhood cancer in general, which can lead to improved diagnostics and treatment and improved survival.
  • Barncancerfonden
    1 January 2019 - 31 December 2019

Forskningsbidrag

  • Luckslutning med miniskruvsförankring hos patienter med agenesi av en överkäkslateral incisiv – kliniska in vivo‑studier och experimentella in vitro‑studier
    Karolinska Institutet
    2 March 2026 - 29 February 2032
    Medfödd agenesi av laterala incisiver i överkäken innebär betydande funktionella och estetiska utmaningar, och det saknas evidens för vilken behandlingsstrategi som är mest effektiv och långsiktigt hållbar. Detta forskningsprojekt syftar till att utvärdera ortodontisk luckslutning med skelettal förankring från två temporära gomimplantat (mesialslider) och jämföra denna metod med lucköppning i kombination med protetiska ersättningar. Studien undersöker effektivitet, förändringar i ansiktsprofil, hälsoekonomiska konsekvenser samt mekaniska egenskaper hos de använda gomimplantaten. Projektet genomförs som en randomiserad kontrollerad studie där patienter med agenesi av lateraler behandlas med antingen aktiv eller passiv mesialslider under en sexmånadersperiod. Behandlingsresultat utvärderas med intraoral skanning, 3D‑fotografering och patientrapporterade utfall vid flera tidpunkter. Dentala och mjukvävnadsförändringar analyseras genom digital superponering. En hälsoekonomisk analys jämför kostnadseffektivitet mellan mesialsliderbehandling och traditionell lucköppning följt av protetiska ersättningar. En kompletterande in vitro‑studie analyserar hållfasthet och frakturmönster hos gomimplantaten genom mätning av insättningsmoment och elektronmikroskopi. Projektet adresserar en kliniskt relevant kunskapslucka och kräver tvärvetenskaplig kompetens inom ortodonti, oral radiologi, klinisk genetik, hållfasthetslära och hälsoekonomi. Resultaten förväntas bidra till evidensbaserad behandlingsplanering, ökad kostnadseffektivitet och förbättrad patientvård samt stärka forskarutbildningen och undervisningen vid tandläkar-, tandhygienist- och KUT‑programmen.
  • Optimerad vård för vuxna med genetiskt orsakade syndrom inom primärvården
    NSV Projektmedel
    1 January 2025 - 31 December 2026
  • Barncancerfonden
    1 January 2024 - 31 December 2024
  • Swedish Research Council
    1 January 2024 - 31 December 2026
    Pediatric Acute Lymphoblastic Leukemia (ALL) arises from lymphocyte progenitors and is known to present a hierarchy of cell differentiation, making it a suitable model disease for studying differentiation state instability and cancer stem cells. We will analyze ALL samples during treatment and at relapsed from the same patient using a novel method that allows RNA sequencing and genomic sequencing in jointly in the same single cells. Using this method, we will characterize the clonal structure of the leukemia and analyze clonal leukemic cell types in the primary sample of patients which later relapse. Since we obtain data on both the genotype (genomic sequencing) and gene expression profile (RNA-seq) of each cell, we can trace clonal expansions that are mainly driven by epigenetic factors as well as those driven by genetic alterations. Based on this map of treatment escape, we will 1) Determine molecular targets for therapy using a gene editing screen and 2) Test the added value of single-cell genomics for diagnostic tests (in collaboration with clinical genetics). The ultimate goal of the project is to gain a deep understanding of the cancer stem cell population in pediatric ALL tumors in a way that will have a direct impact on the treatment and prevention of ALL recurrence. To ensure that potential discoveries will have clinical diagnostic adaptation, we have partnered with experienced clinicians in genetics and hematopathology.
  • Molecular and Epidemiological studies of Childhood Cancer predisposition
    Cancerföreningen i Stockholm
    1 January 2022 - 31 December 2024
  • Swedish Research Council
    1 January 2021 - 31 December 2023
  • Donation Bertil Hållsten
    Bertil Hållsten
    20 July 2020 - 20 July 2023
  • Constitutional genetic aberrations behind childhood cancer predisposition
    Swedish Cancer Society
    1 January 2019
    In recent years, research has shown that more than 10% of all children affected by cancer have congenital genetic changes as a contributing cause of their disease. This is especially true for children with rare tumors that normally only occur in adults, children who suffer from several different cancers, children with several close relatives who suffered from cancer at an early age, children who suffer from abnormally severe side effects of cancer treatment and children with cancer and malformations, overgrowth syndrome, epilepsy, intellectual disability, autism, or other rare disease. It is important to find these patients as it can save lives. We want to introduce diagnostics into clinical routine to look for known and new congenital genetic abnormalities and then compare them with genetic abnormalities in cancer cells in people with cancer, children whose cancer type or side effect profile gives strong suspicion of congenital genetic causes and people who included in families where more than one child has been affected by cancer. We want to use new DNA and RNA based methods that are based on sequencing of the entire human genome. In cases where we find new suspected cancer-associated genes, we will proceed with various functional studies in animal models and cells from patients. I want to identify patients who need a tailored treatment and understand the mechanisms of emergence and find new disease genes behind the syndrome and cancer. Increased knowledge about familial cancer and why certain syndromes are associated with cancer risk and increased sensitivity to cytotoxic drugs and radiation is important and will lead to improved care, tailored therapies and opportunities to implement preventive measures in the affected individual and his family. . The research also leads to increased knowledge about childhood cancer in general, which can lead to improved diagnostics and treatment and improved survival.
  • Swedish Research Council
    1 January 2019 - 31 December 2021
  • Swedish Research Council
    1 January 2019 - 31 December 2021
  • The importance of innate genetic factors for childhood cancer
    Swedish Cancer Society
    1 January 2018
    Little is known about the importance of congenital changes in childhood cancer. Previously, it has been said that congenital syndrome and cancer are two completely different things. In recent years, research has shown that there are often the same genes and signal pathways that are involved in the different conditions. Most cases occur sporadically and it is very rare for several children within the same family to suffer. However, there are rare families where several close relatives suffered from childhood cancer. These families are very interesting from a research point of view because they allow the identification of cancer-associated genes. There are also congenital syndromes that increase the risk of cancer. The purpose is to understand emergence mechanisms and find new disease genes behind syndrome and childhood cancer. We want to use modern technology with sequencing of all human genes to characterize innate genetic abnormalities and compare with genetic abnormalities in cancer cells in people with syndrome and in families where more than one child affected by childhood cancer. We have also collected 380,000 people with various rare genetic diagnoses in a unique registry study to investigate cancer incidence and risk in specific rare diagnoses. Identification of new disease genes and mechanisms behind syndrome and cancer development and familial cancer will give increased knowledge of childhood cancer as a whole and that this can eventually lead to opportunities for preventive measures and new therapies. If cancer cells can be detected already in PKU samples, this can lead to a new understanding of the growth of cancer cells. The registry study is the first of its kind and will lead to new insights on cancer risk in relatives and other associated symptoms in various congenital rare diseases and childhood cancer.
  • Swedish Research Council
    1 January 2018 - 31 December 2020
  • The importance of innate genetic factors for childhood cancer
    Swedish Cancer Society
    1 January 2017
    Little is known about the importance of congenital changes in childhood cancer. Previously, it has been said that congenital syndrome and cancer are two completely different things. In recent years, research has shown that there are often the same genes and signal pathways that are involved in the different conditions. Most cases occur sporadically and it is very rare for several children within the same family to suffer. However, there are rare families where several close relatives suffered from childhood cancer. These families are very interesting from a research point of view because they allow the identification of cancer-associated genes. There are also congenital syndromes that increase the risk of cancer. The purpose is to understand emergence mechanisms and find new disease genes behind syndrome and childhood cancer. We want to use modern technology with sequencing of all human genes to characterize innate genetic abnormalities and compare with genetic abnormalities in cancer cells in people with syndrome and in families where more than one child affected by childhood cancer. We have also collected 380,000 people with various rare genetic diagnoses in a unique registry study to investigate cancer incidence and risk in specific rare diagnoses. Identification of new disease genes and mechanisms behind syndrome and cancer development and familial cancer will give increased knowledge of childhood cancer as a whole and that this can eventually lead to opportunities for preventive measures and new therapies. If cancer cells can be detected already in PKU samples, this can lead to a new understanding of the growth of cancer cells. The registry study is the first of its kind and will lead to new insights on cancer risk in relatives and other associated symptoms in various congenital rare diseases and childhood cancer.
  • Swedish Research Council
    1 January 2016 - 31 December 2018
  • The importance of innate genetic factors for childhood cancer
    Swedish Cancer Society
    1 January 2016
    Little is known about the importance of congenital changes in childhood cancer. Previously, it has been said that congenital syndrome and cancer are two completely different things. In recent years, research has shown that there are often the same genes and signal pathways that are involved in the different conditions. Most cases occur sporadically and it is very rare for several children within the same family to suffer. However, there are rare families where several close relatives suffered from childhood cancer. These families are very interesting from a research point of view because they allow the identification of cancer-associated genes. There are also congenital syndromes that increase the risk of cancer. The purpose is to understand emergence mechanisms and find new disease genes behind syndrome and childhood cancer. We want to use modern technology with sequencing of all human genes to characterize innate genetic abnormalities and compare with genetic abnormalities in cancer cells in people with syndrome and in families where more than one child affected by childhood cancer. We have also collected 380,000 people with various rare genetic diagnoses in a unique registry study to investigate cancer incidence and risk in specific rare diagnoses. Identification of new disease genes and mechanisms behind syndrome and cancer development and familial cancer will give increased knowledge of childhood cancer as a whole and that this can eventually lead to opportunities for preventive measures and new therapies. If cancer cells can be detected already in PKU samples, this can lead to a new understanding of the growth of cancer cells. The registry study is the first of its kind and will lead to new insights on cancer risk in relatives and other associated symptoms in various congenital rare diseases and childhood cancer.
  • Swedish Research Council
    1 January 2012 - 31 December 2014

Anställningar

  • Föreståndare Centrum för Sällsynta diagnoser, Karolinska, Föreståndare Centrum för Sällsynta diagnoser, Karolinska, Molekylär medicin och kirurgi, Karolinska Institutet, 2026-
  • Professor I klinisk genetik, Klinisk genetik, Avdelningen för laboratoriemedicin, Sahlgrenska Akademin, Göteborgs universitet, 2022-
  • Överläkare, Klinisk genetik och genomik, Klinisk genetik och genomik, Sahlgrenska University Hospital, 2022-
  • Adjungerad Professor, Molekylär medicin och kirurgi, Karolinska Institutet, 2019-2027
  • Adjungerad Professor, Molekylär medicin och kirurgi, Karolinska Institutet, 2015-2027
  • Specialistläkare i klinisk genetik, Klinisk genetik, Klinisk genetik, Norrlands Universitetssjukhus, 2002-2004
  • Postdoktor, Postdok Gösta Holmgrens forskargrupp, Norrlands Universitet, 2002-2004

Examina och utbildning

  • Specialist i klinisk genetik, Klinisk genetik, Klinisk genetik, Karolinska Universitetssjukhuset, 2022
  • Docent I medicinsk genetik, Medicinsk genetik, Karolinska Institutet, 2010
  • Medicine Doktorsexamen, Doktorsexamen, Characterization of Chromosomal Aberrations in Childhood Leukemia, Molecular Medicine and Surgery, Karolinska Institutet, 2001
  • Legitimerad läkare, Karolinska Institutet, 1993
  • Läkarexamen, Göteborgs universitet, 1991

Uppdrag

  • Sektionsansvarig, Föreståndare Karolinska Centrum för Sällsynta diagnoser, Region Stockholm-Gotland, Clinical genetics and genomics, Karolinska University Hospital, 2026-
  • Programdirektor, Ämnesföreträdare Klinisk genetik läkarprogrammet, Laboratory medicine, University of Gothenburg, Sahlgrenska Academy, 2022-
  • Forskargruppsledare, Forskargruppledare, Laboratory Medicine, University of Gothenburg, https://www.gu.se/om-universitetet/hitta-person/annnordgren, 2022-
  • Forskargruppsledare, Forskargruppledare, Molecular Medicine and Surgery, Karolinska Institutet, https://ki.se/en/research/research-areas-centres-and-networks/research-groups/rare-diseases-ann-nordgren-och-anna-lindstrands-research-group, 2015-
  • Sektionsansvarig, Projektledare Centrum för Sällsynta diagnoser, Karolinska, Clinical genetics, Karolinska University Hospital, 2012-2018
  • Prorektor, Vice verksamhetschef, avd klinisk genetik, Clinical genetics, Karolinska University Hospital, 2012-2018
  • Sektionsansvarig, Chef mottagningsverksamheten, avd klinisk genetik, Clinical genetics, Karolinska University Hospital, 2004-2012
  • Prefekt, Klinikchef, avd klinisk genetik, Norrlands Universitetssjukhus, Klinisk Genetik, Klinisk genetik, 2002-2004

Handledning

  • Handledning till doktorsexamen

    • Sinan Dahreb, Miniscrew-Assisted Orthodontic Space Closure in Missing Maxillary Anterior Teeth, 2026-
    • Sofia Wachtmeister, Precisionsdiagnostik och symtomkartläggning vid neuropsykiatrisk funktionsnedsättning, 2026-
    • Hillevi Lindelöf, Syndromes with skeletal abnormalities: aspects of natural course and molecular genetics, 2026
    • Carolina Maya Gonzalez, Novel genetic causes of childhood cancer predisposition, 2025
    • Dominyka Batkovskyte, Genetic studies of rare skeletal disorders : to solve the unsolved, https://openarchive.ki.se/articles/thesis/Genetic_studies_of_rare_skeletal_disorders_to_solve_the_unsolved/26903353?file=48945721, 2024
    • Christina-Evmorfia Kampitsi, Congenital heart disease, genetic syndromes, and childhood cancer, 2024
    • Sandra Wessman, Precision medicine of ovarian cancer for adults and children : molecular, hereditary and clinical aspects, 2023
    • Benedicte Bang, STUDIES OF CONGENITAL GENETIC ABERRATIONS BEHIND CHILDHOOD LEUKEMIA, 2023
    • Sintia Kolbjer, Central nervous system malformations and epilepsy in children : genetic, imaging, and clinical aspects, 2023
    • Alexandra Wachtmeister, Congenital Malformations and Childhood Cancer Predisposition, 2022-
    • Annika Danielsson, Rare pediatric movement disorders : clinical aspects of genotype, phenotype, and assessment, 2022
    • Sofia Frisk, Studies of Genetic Mosaicism in Rare Diseases, 2022
    • Katja Ekholm, Genetisk utredning av medfödda orsaker till syndrom och barncancer: Föräldrars syn på genetisk testning och betydelsen av en diagnos, 2021-
    • Anders Kämpe, Genetic causes and underlying disease mechanisms in early-onset osteoporosis, https://openarchive.ki.se/articles/thesis/Genetic_causes_and_underlying_disease_mechanisms_in_early-onset_osteoporosis/26919550?file=48964903, 2020
    • Emeli Pontén, Epidemiological and genetic studies of childhood cancer etiology, 2018-
    • Anna Hammarsjö, EXPANDING THE GENETIC AND PHENOTYPIC SPECTRUM OF SKELETAL DYSPLASIAS, 2018
    • Vasilios Zachariadis, Molecular studies of prognostic and etiological factors in childhood leukemia, 2015
    • Martin Paucar, Genotype-phenotype characterization of familial hyperkinetic movement disorders : emphasis on ataxia and brain calcifications., 2015
    • Tobias Laurell, Genetic studies of congenital upper limb anomalies, 2014
    • Fredrika Gauffin, PROGNOSTIC MOLECULAR MARKERS OF CHILDHOOD LEUKEMIA, 2010
    • Sara Sjögren, Epidemiological and clinical studies of constitutional mismatch repair deficiency syndromes (CMMRD).
    • Jesper Ottosson

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