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Lab Research
Genetics of Human Congenital Craniofacia
Primary Cilia
Tubulins
Cholesterol
ENU Mutagenesis
Publications
People
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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
2026
Recessive
AARS1
variants perturb human and mouse development
Microtubule-stabilizing drugs suppress convulsions in a
C. elegans
model of CAMSAP disorders
Cse1l
is critical for cell survival, craniofacial and cardiac development
Challenges and opportunities for understanding the genetic causes of congenital anomalies
Bi-allelic
INTU
variants define a ciliopathy disorder characterized by orofacial, digital and cardiac anomalies
Ttc21b
is required for proper proliferation of neural progenitor cells
2025
De novo heterozygous
ZFX
frameshift variant in a female with an X-linked neurodevelopmental disorder
Detection of the heterozygous recurrent
MAX
p.(Arg60Gln) variant in two females confirms and expands the phenotypic spectrum of polydactyly-macrocephaly syndrome
Mouse variants in
Taf1c
result in reduced survival to birth
Dmxl1
is required for survival in the mouse to organogenesis stages of development
Genetic analysis and functional assessment of a
TGFBR2
variant in micrognathia and cleft palate
Differential contribution of P73+ Cajal-Retzius cells and Reelin to cortical morphogenesis
Expanding the phenotypic spectrum of
CSN2KA1
-associated Okur-Chung neurodevelopmental syndrome
2024
Long-read sequencing and optical genome mapping identify causative gene disruptions in noncoding sequence in to patients with neurologic disease and known chromosome abnormalities
Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes
SMPD4
-mediated sphingolipid metabolism regulates brain and primary cilia development
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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