Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with...
Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores
About this item
Full title
Author / Creator
Ishorst, Nina , Henschel, Leonie , Thieme, Frederic , Drichel, Dmitriy , Sivalingam, Sugirthan , Mehrem, Sarah L. , Fechtner, Ariane C. , Fazaal, Julia , Welzenbach, Julia , Heimbach, André , Maj, Carlo , Borisov, Oleg , Hausen, Jonas , Raff, Ruth , Hoischen, Alexander , Dixon, Michael , Rada‐Iglesias, Alvaro , Bartusel, Michaela , Rojas‐Martinez, Augusto , Aldhorae, Khalid , Braumann, Bert , Kruse, Teresa , Kirschneck, Christian , Spanier, Gerrit , Reutter, Heiko , Nowak, Stefanie , Gölz, Lina , Knapp, Michael , Buness, Andreas , Krawitz, Peter , Nöthen, Markus M. , Nothnagel, Michael , Becker, Tim , Ludwig, Kerstin U. and Mangold, Elisabeth
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
Background
Nonsyndromic cleft lip with/without cleft palate (nsCL/P) is a congenital malformation of multifactorial etiology. Research has identified >40 genome‐wide significant risk loci, which explain less than 40% of nsCL/P heritability. Studies show that some of the hidden heritability is explained by rare penetrant variants.
Methods
T...
Alternative Titles
Full title
Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores
Authors, Artists and Contributors
Author / Creator
Henschel, Leonie
Thieme, Frederic
Drichel, Dmitriy
Sivalingam, Sugirthan
Mehrem, Sarah L.
Fechtner, Ariane C.
Fazaal, Julia
Welzenbach, Julia
Heimbach, André
Maj, Carlo
Borisov, Oleg
Hausen, Jonas
Raff, Ruth
Hoischen, Alexander
Dixon, Michael
Rada‐Iglesias, Alvaro
Bartusel, Michaela
Rojas‐Martinez, Augusto
Aldhorae, Khalid
Braumann, Bert
Kruse, Teresa
Kirschneck, Christian
Spanier, Gerrit
Reutter, Heiko
Nowak, Stefanie
Gölz, Lina
Knapp, Michael
Buness, Andreas
Krawitz, Peter
Nöthen, Markus M.
Nothnagel, Michael
Becker, Tim
Ludwig, Kerstin U.
Mangold, Elisabeth
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_205be1f83d914d678ac7257527a61a58
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_205be1f83d914d678ac7257527a61a58
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.2109
