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Lab Research
Genetics of Human Congenital Craniofacia
Primary Cilia
Tubulins
Cholesterol
ENU Mutagenesis
Publications
People
Links
Home
Lab Research
Genetics of Human Congenital Craniofacia
Primary Cilia
Tubulins
Cholesterol
ENU Mutagenesis
Publications
People
Links
More
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Stottmann Lab Papers
2024
A distal global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development
2023
Successful therapeutic intervention in new mouse models of
frizzled 2
-associated congenital malformations
Development
ARF1-r
elated disorder: phenotypic and molecular spectrum
Journal of Medical Genetics
POLR1A
variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies
American Journal of Human Genetics
A mutational hotspot in
AMOTL1
defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
American Journal of Medical Genetics
2022
Bi-allelic
CAMSAP1
variants cause a clinically recognizable neuronal migration disorder.
American Journal of Human Genetics
PPP2R1A
neurodevelopmental disorder is associated with congenital heart defects.
American Journal of Medical Genetics
A recurrent, de novo pathogenic variant in
ARPC4
disrupts actin filament formation and causes microcephaly and speech delay.
HGG Advances
Robin sequence without cleft palate: Genetic diagnoses and management implications.
American Journal of Medical Genetics
Genetic and phenotypic heterogeneity in
KIAA0753
-related ciliopathies
American Journal of Medical Genetics
Full Pubmed Report
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