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HGG Advances|April 5, 2021
The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lipSarah W Curtis, Daniel Chang, Myoung Keun Lee, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 12, 2021
A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic ParaplegiaDerek E Neilson, Michael Zech, Robert B Hufnagel, et al.
Biorxiv : the Preprint Server for Biology|March 3, 2025
Identification of functional non-coding variants associated with orofacial cleftPriyanka Kumari, Ryan Z Friedman, Lira Pi, et al.
Nature Communications|July 16, 2025
Identification of functional non-coding variants associated with orofacial cleftPriyanka Kumari, Ryan Z Friedman, Sarah W Curtis, et al.
Biorxiv : the Preprint Server for Biology|July 15, 2024
Functional analysis of <i>ESRP1/2</i> gene variants and <i>CTNND1</i> isoforms in orofacial cleft pathogenesisCaroline Caetano da Silva, Claudio Macias Trevino, Jason Mitchell, et al.
American Journal of Medical Genetics. Part A|March 7, 2013
Replication of genome wide association identified candidate genes confirm the role of common and rare variants in PAX7 and VAX1 in the etiology of nonsyndromic CL(P)Azeez Butali, Satoshi Suzuki, Margaret E Cooper, et al.
Communications Biology|August 23, 2024
Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesisCaroline Caetano da Silva, Claudio Macias Trevino, Jason Mitchell, et al.
American Journal of Medical Genetics. Part A|October 3, 2025
Identification of Novel and Rare Gene Variants in Cleft Lip/Palate Patients From Kuwaiti Consanguineous Families by Exome SequencingLateefa Alkharafi, Suzanne Al-Bustan, Sumaya Alkanderi, et al.
American Journal of Medical Genetics. Part A|February 19, 2015
Expanding the genetic and phenotypic spectrum of popliteal pterygium disordersElizabeth J Leslie, James O'Sullivan, Michael L Cunningham, et al.
Medrxiv : the Preprint Server for Health Sciences|September 16, 2024
Genome-wide association studies of Down syndrome associated congenital heart defectsElizabeth R Feldman, Yunqi Li, David J Cutler, et al.
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