Publications by authors named "Laura Roos"

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Maternal age and the risk of fetal aneuploidy: A nationwide cohort study of more than 500 000 singleton pregnancies in Denmark from 2008 to 2017.
Line Elmerdahl Frederiksen, Sofie Møller Ølgaard, Laura Roos, Olav Bjørn Petersen, Line Rode

Acta Obstet Gynecol Scand· February 2024

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Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, Laura Sønderberg Roos

Nat Commun· January 2024

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Preimplantation genetic testing in two Danish couples affected by Peutz-Jeghers syndrome.
Anna Byrjalsen, Laura Roos, Tue Diemer, John Gásdal Karstensen, Kristine Løssl

Scand J Gastroenterol· March 2023

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Epidemiology of ectopia lentis and outcomes after surgery in a Danish population.
Asrin Rasul, Laura Roos, Kristian Groth, Per Riise, Daniella Bach-Holm

J Cataract Refract Surg· December 2022

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Genetic disease is a common cause of bilateral childhood cataract in Denmark.
Line Kessel, Daniella Bach-Holm, Moug Al-Bakri, Laura Roos, Allan Lund

Ophthalmic Genet· December 2021

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Causes of poor eye contact in infants: a population-based study.
Mette Levinsen, Malene Landbo Børresen, Laura Roos, Karen Grønskov, Line Kessel

BMC Ophthalmol· November 2021

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[Preimplantation genetic testing].
Kristina Løssl, Jane Gasseholm Bentzen, Morten Rønn Petersen, Laura Sønderberg Roos, Kristín Rós Kjartansdóttir

Ugeskr Laeger· November 2021

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Direct to consumer genetic testing in Denmark-public knowledge, use, and attitudes.
Anne-Marie Gerdes, Line Nicolaisen, Egil Husum, Janne Bayer Andersen, Martin Dræbye Gantzhorn, Laura Roos

Eur J Hum Genet· May 2021

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[Genetic screening of adopted individuals].
Tanja Røhmer Wriedt, Anne-Marie Axø Gerdes, Laura Kristine Roos, Sophia Hammer-Hansen, Maja Bejerholm Christensen

Ugeskr Laeger· March 2021

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[Genetic screening of prospective parents].
Vibe Madsen Smed, Olav Bennike Bjørn Petersen, Anne-Marie Axø Gerdes, Birgitte Rode Diness, Laura Sønderberg Roos

Ugeskr Laeger· March 2021

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Prevalence and causes of infantile nystagmus in a large population-based Danish cohort.
Karen Hvid, Kamilla Rothe Nissen, Allan Bayat, Laura Roos, Karen Grønskov

Acta Ophthalmol· August 2020

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[Preimplantation genetic testing for aneuploidy].
Viktoria Holmqvist, Laura Kristine Soenderberg Roos, Kristin Ros Kjartansdottir, Morten Dunø, Morten Rønn Petersen

Ugeskr Laeger· May 2019

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Is MED13L-related intellectual disability a recognizable syndrome?
Pernille Mathiesen Tørring, Martin Jakob Larsen, Charlotte Brasch-Andersen, Lotte Nylandsted Krogh, Maria Kibæk, Laura Roos

Eur J Med Genet· February 2019

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Risk of Adverse Pregnancy Outcomes at Advanced Maternal Age.
Line Elmerdahl Frederiksen, Andreas Ernst, Nis Brix, Lea Lykke Braskhøj Lauridsen, Laura Roos

Obstet Gynecol· March 2018

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Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene.
Allan Bayat, Maria Kirchhoff, Camilla G Madsen, Laura Roos, Sven Kreiborg

Clin Dysmorphol· July 2017

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Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark.
Laura Roos, Hanne Jensen, Karen Grønskov, René Holst, Zeynep Tümer

Ophthalmic Epidemiol· October 2016

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[Pontocerebellar hypoplasia is a rare cause of floppy infant syndrome].
Susanne Christiansen, Laura Kirstine Sønderberg Roos, Maria J Miranda

Ugeskr Laeger· September 2015

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Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function.
Laura Roos, Birgitte Bertelsen, Pernille Harris, Anette Bygum, Hanne Jensen

BMC Med Genet· June 2015

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Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion.
Nicolas Chatron, Véronique Haddad, Joris Andrieux, Julie Désir, Odile Boute, Laura Roos

Am J Med Genet A· May 2015

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The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
Cynthia J Curry, Jill A Rosenfeld, Erica Grant, Karen W Gripp, Carol Anderson, Laura Roos

Am J Med Genet A· August 2013

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[The genetic background for the eye malformations anophthalmia and microphthalmia].
Laura Sønderberg Roos, Karen Grønskov, Hanne Jensen, Zeynep Tümer

Ugeskr Laeger· March 2012

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A duplication encompassing the SHOX gene and the downstream evolutionarily conserved sequences.
Laura Roos, Karen Brøndum Nielsen, Zeynep Tümer

Am J Med Genet A· December 2009

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