IRS - Lillebælt Hospital, Research Unit of Human Genetics (Vejle) - Research output

2025

MUC1-associated autosomal dominant tubulointerstitial kidney disease: prevalence in kidney failure of undetermined aetiology and clinical insights from Danish families

Granhøj, J., Lildballe, D. L., Pedersen, K. V., Tougaard, B. G., Sokol, M., Aagaard, M. M., Petersen, A. H., Kristensen, T., Djursby, M., Birn, H. & Rasmussen, M., Jan 2025, In: Clinical Kidney Journal. 18, 1, 11 p., sfae355.

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Surgical treatment of keratinocyte carcinoma in Danish hospitals 2007-2021: Time trends and impact of patient and tumor characteristics on treatment choices

Holdam, A. S. K., Rahr, H. B., Frostberg, E., Rønlund, K. & Koudahl, V., Mar 2025, In: Journal of Plastic, Reconstructive and Aesthetic Surgery. 102, p. 11-19

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What the clinician needs to know about laboratory analyses of circulating tumor DNA

Jacobsen, C. M., Canto, L. M. D., Kahns, S., Hansen, T. F. & Andersen, R. F., 25. Jan 2025, (E-pub ahead of print) In: Clinical Colorectal Cancer.

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2024

A de novo FBN1 missense variant associated with a severe phenotype of early onset Marfan syndrome

Markholt, S., Skaerbaek, J., Munk, K., Andersen, B. N., Lilballe, D. L., Blechingberg, J., Petersen, J. P., Bjerre, J. V., Gregersen, P. A. & Kyng, K. J., Dec 2024, In: Progress in Pediatric Cardiology. 75, 5 p., 101751.

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Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma

Gram, S. B., Brusgaard, K., Lei, U., Sommerlund, M., Vinding, G. R., Sleire, S. O. K., Christensen, A. H., Fast, S. P., Bach, R., Bygum, A. & Ousager, L. B., 4. Dec 2024, (E-pub ahead of print) In: JAMA Dermatology.

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DNA methylation profile of inflammatory breast cancer and its impact on prognosis and outcome

Faldoni, F. L. C., Bizinelli, D., Souza, C. P., Santana, I. V. V., Marques, M. M. C., Rainho, C. A., Marchi, F. A. & Rogatto, S. R., 6. Jul 2024, In: Clinical Epigenetics. 16, 15 p., 89.

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Drug-Drug Interactions in the Treatment of Cancer-Associated Venous Thromboembolism with Direct Oral Anticoagulants

Hellfritzsch, M., Henriksen, J. N., Holt, M. I. & Grove, E. L., 2024, In: Seminars in Thrombosis and Hemostasis. 50, 3, p. 489-498

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Early radiologic and metabolic tumour response assessment during combined chemo-radiotherapy for locally advanced NSCLC

Tvilum, M., Knap, M. M., Hoffmann, L., Khalil, A. A., Appelt, A. L., Haraldsen, A., Alber, M., Grau, C., Schmidt, H. H., Kandi, M., Holt, M. I., Lutz, C. M. & Møller, D. S., Mar 2024, In: Clinical and Translational Radiation Oncology . 45, 8 p., 100737.

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Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder

Elkhateeb, N., Crookes, R., Spiller, M., Pavinato, L., Palermo, F., Brusco, A., Parker, M., Park, S.-M., Mendes, A. C., Saraiva, J. M., Hammer, T. B., Nazaryan-Petersen, L., Barakat, T. S., Wilke, M., Bhoj, E., Ahrens-Nicklas, R. C., Li, D., Nomakuchi, T., Brilstra, E. H. & Hunt, D. & 51 others, Johnson, D., Mansour, S., Oprych, K., Mehta, S. G., Platzer, K., Schnabel, F., Kiep, H., Faust, H., Prinzing, G., Wiltrout, K., Radley, J. A., Serrano Russi, A. H., Atallah, I., Campos-Xavier, B., Amor, D. J., Morgan, A. T., Fagerberg, C., Andersen, U. A., Brasch-Andersen, C., Bijlsma, E. K., Bird, L. M., Mullegama, S. V., Green, A., Isidor, B., Cogné, B., Kenny, J., Lynch, S. A., Quin, S., Low, K., Herget, T., Kortüm, F., Levy, R. J., Morrison, J. L., Wheeler, P. G., Narumanch, T., Peron, K., Matthews, N., Uhlman, J., Bell, L., Pang, L., Scurr, I., Belles, R. S., Salbert, B. A., Schaefer, G. B., Green, S., Ros, A., Rodríguez-Palmero, A., Višnjar, T., Writzl, K., Vasudevan, P. C. & Balasubramanian, M., Mar 2025, In: Genetics in Medicine. 27, 3, 101348.

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Gastrointestinal manifestations in patients with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a systematic review with analysis of individual patient data

Skat-Rørdam, P. A., Kaya, Y., Qvist, N., Hansen, T. O., Jensen, T. D., Karstensen, J. G. & Jelsig, A. M., 22. Jul 2024, In: Hereditary Cancer in Clinical Practice. 22, 9 p., 12.

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Germline DNA Damage Repair Gene Alterations in Patients with Metachronous Breast and Colorectal Cancer

Villacis, R. A. R., Côrtes, L., Basso, T. R., do Canto, L. M., Souza, J. S., Aagaard, M. M., da Cruz Formiga, M. N., Aguiar, S., Achatz, M. I. & Rogatto, S. R., Oct 2024, In: International Journal of Molecular Sciences . 25, 19, 15 p., 10275.

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HOXA1 3′UTR Methylation Is a Potential Prognostic Biomarker in Oral Squamous cell Carcinoma

Sorroche, B. P., Miranda, K. C., Beltrami, C. M., Arantes, L. M. R. B., Kowalski, L. P., Marchi, F. A., Rogatto, S. R. & Almeida, J. D., Mar 2024, In: Cancers. 16, 5, 14 p., 874.

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Inflammatory breast cancer microenvironment repertoire based on DNA methylation data deconvolution reveals actionable targets to enhance the treatment efficacy

Calanca, N., Faldoni, F. L. C., Souza, C. P., Souza, J. S., de Souza Alves, B. E., Soares, M. B. P., Wong, D. V. T., Lima-Junior, R. C. P., Marchi, F. A., Rainho, C. A. & Rogatto, S. R., 5. Aug 2024, In: Journal of Translational Medicine. 22, 13 p., 735.

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Lapatinib antitumor effect is associated with PI3K and MAPK pathway: An analysis in human and canine prostate cancer cells

Fonseca-Alves, C. E., Leis-Filho, A. F., Lacerda, Z. A., de Faria Lainetti, P., Amorim, R. L. & Rogatto, S. R., Apr 2024, In: PLOS ONE. 19, 4 , 15 p., e0297043.

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Maternal coffee consumption and biomarkers of reproductive health in young, adult sons: a cohort study

Langergaard, M. J., Ernst, A., Bech, B. H., Tøttenborg, S. S., Brix, N., Toft, G., Gaml-Sørensen, A., Hougaard, K. S., Arendt, L. H., Bonde, J. P. E. & Ramlau-Hansen, C. H., Dec 2024, In: Reproductive Toxicology. 130, 8 p., 108689.

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Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data

Frederiksen, J. H., Birkedal, U., Bachmann, S., Eliesen, E. V., Rasmussen, L. J., Pedersen, K. V., Al-Zehhawi, L., Boonen, S. E., Krogh, L., Rønlund, K., Graversen, L., Assenholt, J., Schmiegelow, K., Wadt, K., Gerdes, A. M. & Hansen, T. V. O., Nov 2024, In: Molecular Genetics and Genomic Medicine. 12, 11, 7 p., e70026.

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Reverse Phenotypes of Patients with Genetically Confirmed Liddle Syndrome

Granhøj, J., Nøhr, T. K., Hinrichs, G. R., Rasmussen, M. & Svenningsen, P., May 2024, In: Clinical Journal of the American Society of Nephrology. 19, 5, p. 610-619

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The role of genomic disorders in chronic kidney failure of undetermined aetiology ≤50 years

Granhøj, J., Pedersen, K. V., Aagaard, M. M., Graakjaer, J. A., Lildballe, D. L., Birn, H. & Rasmussen, M., Jul 2024, In: Clinical Kidney Journal. 17, 7, 9 p., sfae166.

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2023

Adult patient diagnosed with NADSYN1 associated congenital NAD deficiency and analysis of NAD levels to be published in: European Journal of Medical Genetics

Erbs, E., Brasen, C. L., Lund, A. M. & Rasmussen, M., Mar 2023, In: European Journal of Medical Genetics. 66, 3, 104698.

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An Assessment of the Penile Squamous Cell Carcinoma Surfaceome for Biomarker and Therapeutic Target Discovery

Grass, G. D., Ercan, D., Obermayer, A. N., Shaw, T., Stewart, P. A., Chahoud, J., Dhillon, J., Lopez, A., Johnstone, P. A. S., Rogatto, S. R., Spiess, P. E. & Eschrich, S. A., Jul 2023, In: Cancers. 15, 14, 15 p., 3636.

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Co-Occurrence of Germline Genomic Variants and Copy Number Variations in Hereditary Breast and Colorectal Cancer Patients

Côrtes, L., Basso, T. R., Villacis, R. A. R., Souza, J. D. S., Jørgensen, M. M. A., Achatz, M. I. & Rogatto, S. R., 3. Aug 2023, In: Genes. 14, 8, 12 p., 1580.

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DNA methylation-based depiction of the immune microenvironment and immune-associated long non-coding RNAs in oral cavity squamous cell carcinomas

Calanca, N., Francisco, A. L. N., Bizinelli, D., Kuasne, H., Barros Filho, M. C., Flores, B. C. T., Pinto, C. A. L., Rainho, C. A., Soares, M. B. P., Marchi, F. A., Kowalski, L. P. & Rogatto, S. R., Nov 2023, In: Biomedicine & Pharmacotherapy. 167, 14 p., 115559.

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DNA rare copy number alterations in Reinke's Edema

Móz, L. E. S., Martins, R. H. G., Lapa, R. M. L., Villacis, R. A. R., dos Reis, P. P. & Rogatto, S. R., Mar 2023, In: Brazilian Journal of Otorhinolaryngology. 89, 2, p. 279-284

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Hypophosphatasia as a plausible cause of vitamin B6 associated mouth pain: A case-report

Andersen, E. S., Rasmussen, M. & Brasen, C. L., 1. Apr 2023, In: Scandinavian Journal of Pain. 23, 2, p. 416-418

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Identification of a novel pathogenic deep intronic variant in PTEN resulting in pseudoexon inclusion in a patient with juvenile polyps

Jelsig, A. M., Rønlund, K., Gede, L. B., Frederiksen, J. H., Karstensen, J. G., Birkedal, U. & van Overeem Hansen, T., Oct 2023, In: Journal of Human Genetics. 68, p. 721-724

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National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark

Lildballe, D. L., Frederiksen, A. L., Schönewolf-Greulich, B., Brasch-Andersen, C., Lautrup, C. K., Karstensen, H. G., Pedersen, I. S., Sunde, L., Risom, L., Rasmussen, M., Bertelsen, M., Andersen, M. K., Rendtorff, N. D., Gregersen, P. A., Tørring, P. M., Hammer-Hansen, S., Boonen, S. E., Lindquist, S. G., Hammer, T. B. & Diness, B. R., Dec 2023, In: European Journal of Medical Genetics. 66, 12, 5 p., 104872.

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POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum

Rossi, A., Blok, L. S., Neuser, S., Klöckner, C., Platzer, K., Faivre, L. O., Weigand, H., Dentici, M. L., Tartaglia, M., Niceta, M., Alfieri, P., Srivastava, S., Coulter, D., Smith, L., Vinorum, K., Cappuccio, G., Brunetti-Pierri, N., Torun, D., Arslan, M. & Lauridsen, M. F. & 23 others, Murch, O., Irving, R., Lynch, S. A., Mehta, S. G., Carmichael, J., Zonneveld-Huijssoon, E., de Vries, B., Kleefstra, T., Johannesen, K. M., Westphall, I. T., Hughes, S. S., Smithson, S., Evans, J., Dudding-Byth, T., Simon, M., van Binsbergen, E., Herkert, J. C., Beunders, G., Oppermann, H., Bakal, M., Møller, R. S., Rubboli, G. & Bayat, A., Aug 2023, In: Clinical Genetics. 104, 2, p. 186-197

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Precision medicine applied to metastatic colorectal cancer using tumor-derived organoids and in-vitro sensitivity testing: a phase 2, single-center, open-label, and non-comparative study

Jensen, L. H., Rogatto, S. R., Lindebjerg, J., Havelund, B., Abildgaard, C., do Canto, L. M., Vagn-Hansen, C., Dam, C., Rafaelsen, S. & Hansen, T. F., 5. May 2023, In: Journal of Experimental and Clinical Cancer Research (Online). 42, 9 p., 115.

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PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants

Muranen, T. A., Morra, A., Khan, S., Barnes, D. R., Bolla, M. K., Dennis, J., Keeman, R., Leslie, G., Parsons, M. T., Wang, Q., Ahearn, T. U., Aittomäki, K., Andrulis, I. L., Arun, B. K., Behrens, S., Bialkowska, K., Bojesen, S. E., Camp, N. J., Chang-Claude, J. & Czene, K. & 31 others, Devilee, P., HEBON Investigators, Domchek, S. M., Dunning, A. M., Engel, C., Evans, D. G., Gago-Dominguez, M., García-Closas, M., Gerdes, A. M., Glendon, G., Guénel, P., Hahnen, E., Hamann, U., Hanson, H., Hooning, M. J., Hoppe, R., Izatt, L., Jakubowska, A., James, P. A., Kristensen, V. N., Lalloo, F., Lindeman, G. J., Mannermaa, A., Margolin, S., Neuhausen, S. L., Newman, W. G., Peterlongo, P., Phillips, K. A., Pujana, M. A., Rønlund, K. & Thomassen, M., 12. May 2023, In: npj Breast Cancer. 9, 15 p., 37.

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ProTarget: a Danish Nationwide Clinical Trial on Targeted Cancer Treatment based on genomic profiling - a national, phase 2, prospective, multi-drug, non-randomized, open-label basket trial

Kringelbach, T., Højgaard, M., Rohrberg, K., Spanggaard, I., Laursen, B. E., Ladekarl, M., Haslund, C. A., Harsløf, L., Belcaid, L., Gehl, J., Søndergaard, L., Eefsen, R. L., Hansen, K. H., Kodahl, A. R., Jensen, L. H., Holt, M. I., Oellegaard, T. H., Yde, C. W., Ahlborn, L. B. & Lassen, U., 22. Feb 2023, In: BMC Cancer. 23, 182.

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Sertoli-Leydig cell tumor: A clinicopathological analysis in a comprehensive, national cohort

Bekker, P., Miland-Samuelsen, A. R., Smerdel, M. P., Schnack, T. H., Lauszus, F. F. & Karstensen, S. H., 4. Dec 2023, In: International Journal of Gynecological Cancer. 33, 12, p. 1921-1927

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Serum testosterone and prostate cancer in men with germline BRCA1/2 pathogenic variants

Dias, A., Brook, M. N., Bancroft, E. K., Page, E. C., Chamberlain, A., Saya, S., Amin, J., Mikropoulos, C., Taylor, N., Myhill, K., Thomas, S., Saunders, E., Dadaev, T., Leongamornlert, D., Jensen, T. D., Evans, D. G., Cybulski, C., Liljegren, A., Teo, S. H. & Side, L. & 3 others, The IMPACT study collaborators and Steering Committee, Kote‐Jarai, Z. & Eeles, R. A., May 2023, In: BJUI Compass. 4, 3, p. 361-373

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2022

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

Barnes, D. R., Silvestri, V., Leslie, G., McGuffog, L., Dennis, J., Yang, X., Adlard, J., Agnarsson, B. A., Ahmed, M., Aittomäki, K., Andrulis, I. L., Arason, A., Arnold, N., Auber, B., Azzollini, J., Balmaña, J., Barkardottir, R. B., Barrowdale, D., Barwell, J. & Belotti, M. & 35 others, Benitez, J., Berthet, P., Boonen, S. E., Borg, Å., Bozsik, A., Brady, A. F., Brennan, P., Brewer, C., Brunet, J., Bucalo, A., Buys, S. S., Caldés, T., Caligo, M. A., Campbell, I., Cassingham, H., Christensen, L. L., Cini, G., Claes, K. B. M., Cook, J., Coppa, A., Cortesi, L., Damante, G., Darder, E., Davidson, R., de la Hoya, M., Hansen, T. V. O., Kruse, T. A., Pedersen, I. S., Rønlund, K., Thomassen, M., GEMO Study Collaborators, Kristensen, L. K., Jensen, U. B., Lautrup, C. K. & Høgh Petersen, A., Jan 2022, In: National Cancer Institute. Journal (Online). 114, 1, p. 109-122 djab147.

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Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

Hakkaart, C., Pearson, J. F., Marquart, L., Dennis, J., Wiggins, G. A. R., Barnes, D. R., Robinson, B. A., Mace, P. D., Aittomäki, K., Andrulis, I. L., Arun, B. K., Azzollini, J., Balmaña, J., Barkardottir, R. B., Belhadj, S., Berger, L., Blok, M. J., Boonen, S. E., Borde, J. & Bradbury, A. R. & 35 others, Brunet, J., Buys, S. S., Caligo, M. A., Campbell, I., Chung, W. K., Claes, K. B. M., Collonge-Rame, M. A., Cook, J., Cosgrove, C., Couch, F. J., Daly, M. B., Dandiker, S., Davidson, R., de la Hoya, M., de Putter, R., Delnatte, C., Dhawan, M., Diez, O., Ding, Y. C., Domchek, S. M., Donaldson, A., Eason, J., Easton, D. F., Ehrencrona, H., Engel, C., Evans, D. G., Hansen, T. V. O., Pedersen, I. S., Rønlund, K., Thomassen, M., GEMO Study Collaborators, EMBRACE Collaborators, SWE-BRCA Investigators, kConFab Investigators & HEBON Investigators, 6. Oct 2022, In: Communications Biology. 5, 1 p., 1061.

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Epidemiological, Clinical, and Genomic Profile in Head and Neck Cancer Patients and Their Families

Chulam, T. C., Bertonha, F. B., Villacis, R. A. R., Filho, J. G., Kowalski, L. P. & Rogatto, S. R., Dec 2022, In: Biomedicines. 10, 12, 3278.

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Family history is important to identify patients with monogenic causes of adult-onset chronic kidney disease

Granhøj, J., Godskesen Tougaard, B., Lildballe, D. L. & Rasmussen, M., Jan 2022, In: Nephron. 146, 1, p. 49-57

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Interplay Between Immune and Cancer-Associated Fibroblasts: A Path to Target Metalloproteinases in Penile Cancer

Cury, S. S., Kuasne, H., Souza, J. D. S., Muñoz, J. J. M., da Silva, J. P., Lopes, A., Scapulatempo-Neto, C., Faria, E. F., Delaissé, J. M., Marchi, F. A. & Rogatto, S. R., 19. Jul 2022, In: Frontiers in Oncology. 12, 13 p., 935093.

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miR-22 and miR-205 Drive Tumor Aggressiveness of Mucoepidermoid Carcinomas of Salivary Glands

Naakka, E., Barros-Filho, M. C., Adnan-Awad, S., Al-Samadi, A., Marchi, F. A., Kuasne, H., Korelin, K., Suleymanova, I., Brown, A. L., Scapulatempo-Neto, C., Lourenço, S. V., Castilho, R. M., Kowalski, L. P., Mäkitie, A., Araújo, V. C., Leivo, I., Rogatto, S. R., Salo, T. & Passador-Santos, F., 9. Feb 2022, In: Frontiers in Oncology. 11, 13 p., 786150.

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Mutational Signature and Integrative Genomic Analysis of Human Papillomavirus-Associated Penile Squamous Cell Carcinomas from Latin American Patients

Canto, L. M. D., da Silva, J. M., Castelo-Branco, P. V., da Silva, I. M., Nogueira, L., Fonseca-Alves, C. E., Khayat, A., Birbrair, A. & Pereira, S. R., Jul 2022, In: Cancers. 14, 14, 20 p., 3514.

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Nye arvelige polyposesyndromer som differentialdiagnose hos patienten med tarmpolypper

Translated title of the contribution: New hereditary polyposis syndromes in the patient with intestinal polypsJelsig, A. M., Jespersen, N., Karstensen, J. G., Ketabi, Z., Rønlund, K., Sund, L., Thorlacius-Ussing, O., Wadt, K., Qvist, N. & Lautrup, C. K., 2022, In: Ugeskrift for Læger. 2022, 6, V02210148.

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Single-cell and bulk RNA sequencing reveal ligands and receptors associated with worse overall survival in serous ovarian cancer

Carvalho, R. F., do Canto, L. M., Abildgaard, C., Aagaard, M. M., Tronhjem, M. S., Waldstrøm, M., Jensen, L. H., Steffensen, K. D. & Rogatto, S. R., Dec 2022, In: Cell Communication and Signaling. 20, 19 p., 176.

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Survival benefits for non-small cell lung cancer patients treated with adaptive radiotherapy

Møller, D. S., Lutz, C. M., Khalil, A. A., Alber, M., Holt, M. I., Kandi, M., Schmidt, H. H., Tvilum, M., Appelt, A., Knap, M. M. & Hoffmann, L., Mar 2022, In: Radiotherapy & Oncology. 168, p. 234-240

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Systemic conditions associated with increased risk to develop oral squamous cell carcinoma: Systematic review and meta-analysis

Dos Santos, E. S., Pérez-de-Oliveira, M. E., Normando, A. G. C., Gueiros, L. A. M., Rogatto, S. R., Vargas, P. A., Lopes, M. A., da Silva Guerra, E. N., Leme, A. F. P. & Santos-Silva, A. R., Dec 2022, In: Head & Neck. 44, 12, p. 2925-2937

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The Long Non-Coding RNA SNHG12 as a Mediator of Carboplatin Resistance in Ovarian Cancer via Epigenetic Mechanisms

Abildgaard, C., Do Canto, L. M., Rainho, C. A., Marchi, F. A., Calanca, N., Waldstrøm, M., Steffensen, K. D. & Rogatto, S. R., 1. Apr 2022, In: Cancers. 14, 7, 18 p., 1664.

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TP53 Pathogenic Variants in Early-Onset Breast Cancer Patients Fulfilling Hereditary Breast and Ovary Cancer and Li-Fraumeni-like Syndromes

da Silva, P. F. F., Goveia, R. M., Teixeira, T. B., Gamba, B. F., de Lima, A. P., Rogatto, S. R. & Silveira-Lacerda, E. D. P., May 2022, In: Biomolecules. 12, 5, 9 p., 640.

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Trypanosoma cruzi Genomic Variability: Array Comparative Genomic Hybridization Analysis of Clone and Parental Strain

Cortez, D. R., Lima, F. M., Reis-Cunha, J. L., Bartholomeu, D. C., Villacis, R. A. R., Rogatto, S. R., Costa-Martins, A. G., Marchiano, F. S., do Carmo, R. A., da Silveira, J. F. & Marini, M. M., 25. Mar 2022, In: Frontiers in Cellular and Infection Microbiology. 12, 17 p., 760830.

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von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance

Louise M Binderup, M., Smerdel, M., Borgwadt, L., Beck Nielsen, S. S., Madsen, M. G., Møller, H. U., Kiilgaard, J. F., Friis-Hansen, L., Harbud, V., Cortnum, S., Owen, H., Gimsing, S., Friis Juhl, H. A., Munthe, S., Geilswijk, M., Rasmussen, Å. K., Møldrup, U., Graumann, O., Donskov, F. & Grønbæk, H. & 11 others, Stausbøl-Grøn, B., Schaffalitzky de Muckadell, O., Knigge, U., Dam, G., Wadt, K. A., Bøgeskov, L., Bagi, P., Lund, L., Stochholm, K., Ousager, L. B. & Sunde, L., Aug 2022, In: European Journal of Medical Genetics. 65, 8, 12 p., 104538.

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2021

14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients

Eno, C. C., Graakjaer, J., Svaneby, D., Nizon, M., Kianmahd, J., Signer, R., Martinez-Agosto, J. A. & Quintero-Rivera, F., May 2021, In: American Journal of Medical Genetics Part A. 185, 5, p. 1519-1524

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Association between human leukocyte antigens (HLAs) and human neutrophil antigens (HNAs) and autoimmune neutropenia of infancy in Danish patients

Nielsen, K. R., Bojsen, S. R., Masmas, T. N., Fjordside, A. L., Baech, J., Haunstrup, T. M. & Steffensen, R., May 2021, In: Pediatric Allergy and Immunology. 32, 4, p. 756-761

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Cell-based non-invasive prenatal diagnosis in a pregnancy at risk of cystic fibrosis

Jeppesen, L. D., Hatt, L., Singh, R., Ravn, K., Kølvraa, M., Schelde, P., Uldbjerg, N., Vogel, I. & Lildballe, D. L., Jan 2021, In: Prenatal Diagnosis. 41, 2, p. 234-240

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IRS - Lillebælt Hospital, Research Unit of Human Genetics (Vejle)

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