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Pål R. Njølstad

Pål R. Njølstad

D-Index & Metrics

Medicine

D-Index
81
Citations
24732
World Ranking
16614
National Ranking
83

Overview

Pål R. Njølstad is affiliated with the University of Bergen in Norway and has contributed extensively to the fields of medicine, biochemistry, genetics, and molecular biology. Their work spans various subfields including genetics, pediatrics, perinatology and child health, molecular biology, surgery, and endocrinology with a focus on diabetes and metabolism.

Their research addresses key topics such as birth, development, and health; pancreatic function and diabetes; diabetes and associated disorders; genetic associations and epidemiology; pregnancy and preeclampsia studies; genetics and neurodevelopmental disorders; and metabolism related to diabetes and cancer.

Among recent papers, notable publications include:

  • Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects, 2022, Nature Genetics
  • ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents, 2022, Pediatric Diabetes
  • The genetic architecture of sporadic and multiple consecutive miscarriage, 2020, Nature Communications
  • European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation, 2023, Nature Communications
  • The Norwegian Mother, Father, and Child cohort study (MoBa) genotyping data resource: MoBaPsychGen pipeline v.1, 2022, bioRxiv (Cold Spring Harbor Laboratory)

Frequently collaborating with other researchers, Njølstad's main co-authors include Ole A. Andreassen, Stefan Johansson, Per Magnus, Alexandra Havdahl, and Marc Vaudel.

Their work has been published predominantly in the following venues:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Nature Genetics
  • Pancreatology
  • Nature Communications
  • BMC Medicine

Best Publications

  • Activating Mutations in the Gene Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and Permanent Neonatal Diabetes

    Anna L Gloyn;Ewan R. Pearson;Jennifer F. Antcliff;Peter Proks

  • The genetic architecture of type 2 diabetes

    Christian Fuchsberger;Christian Fuchsberger;Jason A. Flannick;Jason A. Flannick;Tanya M. Teslovich;Anubha Mahajan

  • Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

    Ewan R Pearson;Isabelle Flechtner;Pål R Njølstad;Maciej T Malecki

  • Physical activity attenuates the influence of FTO variants on obesity risk: A meta-analysis of 218,166 adults and 19,268 children

    Tuomas O. Kilpeläinen;Lu Qi;Soren Brage;Stephen J. Sharp

  • Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

    Nicole M Warrington;Robin N Beaumont;Momoko Horikoshi;Felix R Day

  • Neonatal diabetes mellitus due to complete glucokinase deficiency.

    Pål R. Njølstad;Oddmund Søvik;Antonio Cuesta-Muñoz;Lise Bjørkhaug

  • Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

    Jason Flannick;Jason Flannick;Gudmar Thorleifsson;Nicola L. Beer;Nicola L. Beer;Suzanne B R Jacobs

  • A Novel Syndrome of Diabetes Mellitus, Renal Dysfunction and Genital Malformation Associated with a Partial Deletion of the Pseudo-POU Domain of Hepatocyte Nuclear Factor-1β

    Tom H. Lindner;Pål R. Njølstad;Pål R. Njølstad;Yukio Horikawa;Leif Bostad

  • Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

    Valérie Turcot;Yingchang Lu;Yingchang Lu;Heather M Highland;Heather M Highland;Claudia Schurmann

  • Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.

    Jørn V. Sagen;Helge Ræder;Eba Hathout;Naim Shehadeh

  • Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction.

    Helge Raeder;Stefan Johansson;Pål I Holm;Pål I Holm;Ingfrid S Haldorsen

  • ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents

    Andrew T. Hattersley;Siri A. W. Greeley;Michel Polak;Oscar Rubio-Cabezas

  • Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population.

    Karol Estrada;Karol Estrada;Ingvild Aukrust;Ingvild Aukrust;Lise Bjørkhaug;Noël P. Burtt

  • The genetic abnormality in the beta cell determines the response to an oral glucose load.

    A Stride;M Vaxillaire;T Tuomi;F Barbetti

  • Continuing stability of center differences in pediatric diabetes care: Do advances in diabetes treatment improve outcome? the hvidoere study group on childhood diabetes

    Carine De Beaufort;Peter G.F. Swift;Chas T. skinner;Henk Jan Aanstoot

  • Mutations in the Insulin Gene can Cause MODY and Autoantibody-Negative Type 1 Diabetes

    Anders Molven;Anders Molven;Monika Ringdal;Monika Ringdal;Anita M. Nordbø;Anita M. Nordbø;Helge Ræder

  • A Comprehensive Screen for TWIST Mutations in Patients with Craniosynostosis Identifies a New Microdeletion Syndrome of Chromosome Band 7p21.1

    David Johnson;Sharon W. Horsley;Dominique M. Moloney;Michael Oldridge

  • Familial Hyperinsulinemic Hypoglycemia Caused by a Defect in the SCHAD Enzyme of Mitochondrial Fatty Acid Oxidation

    Anders Molven;Guri E. Matre;Marinus Duran;Ronald J. Wanders

  • The genetic architecture of type 2 diabetes

    Christian Fuchsberger;Jason Flannick;Tanya M. Teslovich;Anubha Mahajan

  • Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

    Jason Flannick;Gudmar Thorleifsson;Nicola L. Beer;Suzanne B. R. Jacobs

Frequent Co-Authors

Anders Molven
Anders Molven University of Bergen
Stefan Johansson
Stefan Johansson University of Bergen
Andrew P. Morris
Andrew P. Morris University of Liverpool
Torben Hansen
Torben Hansen University of Copenhagen
Leif Groop
Leif Groop Lund University
Oluf Pedersen
Oluf Pedersen University of Copenhagen
Andrew T. Hattersley
Andrew T. Hattersley University of Exeter
Cecilia M. Lindgren
Cecilia M. Lindgren University of Oxford
Graeme I. Bell
Graeme I. Bell University of Chicago

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