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Henrik Okkels

Aalborg University

42

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Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing.

2021 Journal of Assisted Reproduction and Genetics
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First reported CABP2-related non-syndromic hearing loss in Northern Europe.

2021 Molecular Genetics & Genomic Medicine
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Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database (Genetics in Medicine, (2020), 22, 1, (15-25), 10.1038/s41436-019-0596-9)

2020 Genetics in Medicine
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Cell-based non-invasive prenatal testing (cbNIPT): an alternative to chorionic villus sampling to confirm diagnosis of unaffected fetuses following preimplantation genetic testing for monogenic disorders (PGT-M)

2020 Human Reproduction
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A systematic review on concurrent aneuploidy screening and preimplantation genetic testing for hereditary disorders: what is the prevalence of aneuploidy and is there a clinical effect from aneuploidy screening?

2020 Acta Obstetricia et Gynecologica Scandinavica
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New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients

2020 Frontiers in Genetics
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Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database (vol 22, pg 15, 2020)

2020 Genetics in Medicine
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41. EARLY EXPERIENCES WITH TESTING FOR ANEUPLOIDY IN PREIMPLANTATION GENETIC TESTING FOR INHERITED DISORDERS

2019 Reproductive Biomedicine Online
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Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome. A case report

2019 Human Reproduction
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First reported Northern European with CABP2-related non-syndromic hearing loss

2019 European Journal of Human Genetics
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