| # | Title | Journal | Year | Citations |
|---|
| 1 | Biomarkers of mitochondrial content in skeletal muscle of healthy young human subjects | Journal of Physiology | 2012 | 920 |
| 2 | Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement | Nature Reviews Endocrinology | 2018 | 388 |
| 3 | Diagnosis and management of Silver–Russell syndrome: first international consensus statement | Nature Reviews Endocrinology | 2017 | 336 |
| 4 | Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability | Nature Genetics | 2014 | 280 |
| 5 | Tissue-Specific Amino Acid Transporter Partners ACE2 and Collectrin Differentially Interact With Hartnup Mutations | Gastroenterology | 2009 | 239 |
| 6 | Evidence of residual disease in cryopreserved ovarian cortex from female patients with leukemia | Fertility and Sterility | 2010 | 216 |
| 7 | The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation | Journal of Inherited Metabolic Disease | 2015 | 186 |
| 8 | The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype | Journal of Inherited Metabolic Disease | 2015 | 175 |
| 9 | Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations | Brain | 2007 | 162 |
| 10 | Prevalence, incidence, and age at diagnosis in Marfan Syndrome | Orphanet Journal of Rare Diseases | 2015 | 130 |
| 11 | Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease | Clinical Genetics | 2013 | 128 |
| 12 | An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study | Human Mutation | 2010 | 108 |
| 13 | Mutations in C10orf11, a Melanocyte-Differentiation Gene, Cause Autosomal-Recessive Albinism | American Journal of Human Genetics | 2013 | 103 |
| 14 | The incidence of SCN1A‐related Dravet syndrome in Denmark is 1:22,000: A population‐based study from 2004 to 2009 | Epilepsia | 2015 | 103 |
| 15 | Risk‐reducing mastectomy and salpingo‐oophorectomy in unaffected BRCA mutation carriers: uptake and timing* | Clinical Genetics | 2010 | 102 |
| 16 | Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of theIFITM5c.−14C>T mutation in all patients | Journal of Medical Genetics | 2013 | 101 |
| 17 | Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence | Acta Paediatrica, International Journal of Paediatrics | 2008 | 100 |
| 18 | Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants | Genetics in Medicine | 2020 | 82 |
| 19 | Succinate‐CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients | Journal of Inherited Metabolic Disease | 2016 | 79 |
| 20 | The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants | Wellcome Open Research | 2018 | 75 |
| 21 | A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype | American Journal of Medical Genetics, Part A | 2015 | 73 |
| 22 | Autism and developmental disability caused by KCNQ3 gain‐of‐function variants | Annals of Neurology | 2019 | 73 |
| 23 | Aberrant expression of miR‐218 and miR‐204 in human mesial temporal lobe epilepsy and hippocampal sclerosis—Convergence on axonal guidance | Epilepsia | 2014 | 71 |
| 24 | Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting | American Journal of Human Genetics | 2011 | 70 |
| 25 | Alzheimer disease‐like clinical phenotype in a family with FTDP‐17 caused by a MAPT R406W mutation | European Journal of Neurology | 2008 | 69 |
| 26 | Phenotypes and genotypes in individuals with SMC1A variants | American Journal of Medical Genetics, Part A | 2017 | 69 |
| 27 | Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome | Journal of Medical Genetics | 2010 | 65 |
| 28 | Cysteamine Toxicity in Patients with Cystinosis | Journal of Pediatrics | 2011 | 61 |
| 29 | Hyperglucagonemia correlates with plasma levels of non-branched-chain amino acids in patients with liver disease independent of type 2 diabetes | American Journal of Physiology - Renal Physiology | 2018 | 61 |
| 30 | Impact of age at onset and newborn screening on outcome in organic acidurias | Journal of Inherited Metabolic Disease | 2016 | 60 |
| 31 | CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria | American Journal of Human Genetics | 2015 | 58 |
| 32 | Cardiac involvement in myotonic dystrophy: a nationwide cohort study | European Heart Journal | 2014 | 56 |
| 33 | Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland — Experience and development of a routine program for expanded newborn screening | Molecular Genetics and Metabolism | 2012 | 55 |
| 34 | Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis | Clinical Genetics | 2016 | 55 |
| 35 | Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome | Journal of Medical Genetics | 2011 | 54 |
| 36 | Aortic events in a nationwide Marfan syndrome cohort | Clinical Research in Cardiology | 2017 | 54 |
| 37 | Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients | Journal of Medical Genetics | 2018 | 54 |
| 38 | Brain derived neurotrophic factor (BDNF) and autism spectrum disorders (ASD) in childhood | European Journal of Paediatric Neurology | 2015 | 52 |
| 39 | Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders | Journal of Inherited Metabolic Disease | 2016 | 52 |
| 40 | Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability | Molecular Cytogenetics | 2014 | 51 |
| 41 | Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia | American Journal of Human Genetics | 2018 | 51 |
| 42 | Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up | HemaSphere | 2019 | 51 |
| 43 | Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination | Human Mutation | 2016 | 50 |
| 44 | Mutations inCOA3cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature | Journal of Medical Genetics | 2015 | 49 |
| 45 | Current perspectives on recommendations for BRCA genetic testing in ovarian cancer patients | European Journal of Cancer | 2016 | 49 |
| 46 | A germline chromothripsis event stably segregating in 11 individuals through three generations | Genetics in Medicine | 2016 | 48 |
| 47 | Chelating principles in Menkes and Wilson diseases | Journal of Inorganic Biochemistry | 2019 | 45 |
| 48 | Early Craniofacial Morphology and Growth in Children with Bilateral Complete Cleft Lip and Palate | Cleft Palate-Craniofacial Journal | 2004 | 43 |
| 49 | Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands | Journal of Inherited Metabolic Disease | 2007 | 43 |
| 50 | Maintenance of EGFR and EGFRvIII expressions in an in vivo and in vitro model of human glioblastoma multiforme | Experimental Cell Research | 2011 | 42 |
