R. Stottmann

发表

Mutation mapping and identification by whole-genome sequencing

B. Paw, W. Goessling, I. Adzhubei, 2012, Genome research.

Gpr63 is a modifier of microcephaly in Ttc21b mouse mutants

D. Prows, W. Gibbons, J. Snedeker, 2019, PLoS genetics.

Gpr63 is a novel modifier of microcephaly in Ttc21b mouse mutants

D. Prows, W. Gibbons, J. Snedeker, 2018, bioRxiv.

Nubp2 is required for cranial neural crest survival in the mouse

R. Stottmann, David F Paulding, Andrew Distasio, 2019, bioRxiv.

Nubp2 is required for cranial neural crest survival in the mouse.

P. Chaturvedi, R. Stottmann, David F Paulding, 2019, Developmental biology.

A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse.

Amy Bernard, D. Beier, M. Donlin, 2013, Human molecular genetics.

The BMP antagonist Noggin promotes cranial and spinal neurulation by distinct mechanisms.

J. Klingensmith, Murim Choi, R. Stottmann, 2006, Developmental biology.

BMP receptor IA is required in mammalian neural crest cells for development of the cardiac outflow tract and ventricular myocardium

J. Klingensmith, Murim Choi, Y. Mishina, 2004, Development.

Altered cholesterol biosynthesis causes precocious neurogenesis in the developing mouse forebrain

R. Kelley, A. Driver, R. Stottmann, 2016, Neurobiology of Disease.

Bone morphogenetic protein signaling is required in the dorsal neural folds before neurulation for the induction of spinal neural crest cells and dorsal neurons

J. Klingensmith, R. Stottmann, 2011, Developmental dynamics : an official publication of the American Association of Anatomists.

Toward a systems‐level understanding of the Hedgehog signaling pathway: defining the complex, robust, and fragile

S. Lachke, R. Stottmann, P. Tran, 2013, Wiley interdisciplinary reviews. Systems biology and medicine.

COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.

Alyssa A. Tran, Denise G. Lanza, J. Rosenfeld, 2021, American journal of human genetics.

Conservation and regulatory associations of a wide affinity range of mouse transcription factor binding sites.

Esther T. Chan, T. Hughes, M. Berger, 2010, Genomics.

Glycosylphosphatidylinositol biosynthesis and remodeling are required for neural tube closure, heart development, and cranial neural crest cell survival

R. Stottmann, M. Lukacs, Praneet Chatuverdi, 2019, eLife.

Cholesterol Metabolism Is Required for Intracellular Hedgehog Signal Transduction In Vivo

J. Moran, D. Beier, R. Kelley, 2011, PLoS genetics.

A tissue-specific role for intraflagellar transport genes during craniofacial development

S. Brugmann, Ching-Fang Chang, Elizabeth N Schock, 2017, PloS one.

The ciliary baton: orchestrating neural crest cell development.

S. Brugmann, Ching-Fang Chang, Elizabeth N Schock, 2015, Current topics in developmental biology.

Ttc21b is required to restrict sonic hedgehog activity in the developing mouse forebrain.

D. Beier, R. Stottmann, A. Turbé-Doan, 2009, Developmental biology.

Faculty Opinions recommendation of Brca1 is required for embryonic development of the mouse cerebral cortex to normal size by preventing apoptosis of early neural progenitors.

D. Beier, R. Stottmann, 2009 .

The Bone Morphogenetic Protein Antagonist Noggin Regulates Mammalian Cardiac Morphogenesis

J. Klingensmith, Murim Choi, Yu-Ping Yang, 2007, Circulation research.

PPP2R1A neurodevelopmental disorder is associated with congenital heart defects

B. Pode-Shakked, O. Barel, R. Hopkin, 2022, American journal of medical genetics. Part A.

Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey

H. Saal, R. Hopkin, R. Stottmann, 2020, American journal of medical genetics. Part A.

A de novo missense mutation in TUBA1A results in reduced neural progenitor survival and differentiation

H. Saal, C. Mayhew, A. Driver, 2017, bioRxiv.

Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder

J. Lupski, W. Dobyns, D. Curiel, 2022, American journal of human genetics.

Chordin and noggin promote organizing centers of forebrain development in the mouse.

Ryan M. Anderson, J. Klingensmith, R. Stottmann, 2002, Development.

Primary cilia-dependent Gli processing in neural crest cells is required for early tongue development

R. Hegde, Ching-Fang Chang, Ya-Ting Chang, 2016 .

A Novel Mutation in Cse1l Disrupts Brain and Eye Development with Specific Effects on Pax6 Expression

S. Lachke, R. Stottmann, R. Waclaw, 2021, Journal of developmental biology.

Focusing Forward Genetics: A Tripartite ENU Screen for Neurodevelopmental Mutations in the Mouse

J. Moran, D. Beier, E. Driver, 2011, Genetics.

Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence

C. Angeletti, R. Zhai, R. Hopkin, 2019, Experimental Neurology.

COPB2 haploinsufficiency causes a coatopathy with osteoporosis and developmental delay

Alyssa A. Tran, Denise G. Lanza, J. Rosenfeld, 2020, bioRxiv.

Successful therapeutic intervention in new mouse models of frizzled 2-associated congenital malformations.

Cassandra R Diegel, B. Williams, R. Stottmann, 2023, Development.

Endogenous bone morphogenetic protein antagonists regulate mammalian neural crest generation and survival

Ryan M. Anderson, J. Klingensmith, Murim Choi, 2006, Developmental dynamics : an official publication of the American Association of Anatomists.

Correction: A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice

H. Omran, R. Stottmann, Z. Abdelhamed, 2021, Disease Models & Mechanisms.

A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice

H. Omran, R. Stottmann, Z. Abdelhamed, 2020, Disease Models & Mechanisms.

A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice

H. Omran, R. Stottmann, Z. Abdelhamed, 2020, bioRxiv.

The BMP antagonists Chordin and Noggin have essential but redundant roles in mouse mandibular outgrowth.

J. Klingensmith, R. Stottmann, R. Anderson, 2001, Developmental biology.

Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice

D. Lindquist, Q. Lu, Z. Khuchua, 2017, Human molecular genetics.

Using human sequencing to guide craniofacial research

H. Saal, C. Prows, R. Hufnagel, 2018, bioRxiv.

Differential requirements of tubulin genes in mammalian forebrain development

D. Beier, H. Saal, A. Timms, 2018, bioRxiv.

Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly

K. Sund, K. Kaufman, E. Schorry, 2017, bioRxiv.

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

P. Striano, M. Fornerod, N. Brunetti‐Pierri, 2019, American journal of human genetics.

THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia

J. Shah, D. Beier, B. Yoder, 2008, Nature Genetics.

Dkk1 inhibition normalizes limb phenotypes in a mouse model of Fzd2 associated omodysplasia Robinow syndromes

Cassandra R Diegel, B. Williams, R. Stottmann, 2022, bioRxiv.

A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia.

S. Brugmann, K. Sund, H. Saal, 2015, Human Molecular Genetics.

Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient

D. Gilbert, R. Hufnagel, R. Stottmann, 2016, Genes.

Everolimus Stabilizes Podocyte Microtubules via Enhancing TUBB2B and DCDC2 Expression

L. Klein-Hitpass, S. Weber, P. Nalbant, 2015, PloS one.

Robin sequence without cleft palate: Genetic diagnoses and management implications

Brian S. Pan, H. Saal, R. Hopkin, 2021, American journal of medical genetics. Part A.

Glycosylphosphatidylinositol Biosynthesis and Remodeling are Required for Neural Crest Cell, Cardiac and Neural Development

R. Stottmann, M. Lukacs, Praneet Chatuverdi, 2019, bioRxiv.

Ttc21b Is Required in Bergmann Glia for Proper Granule Cell Radial Migration

A. Driver, R. Stottmann, Christopher Shumrick, 2017, bioRxiv.

Ttc21b is required in Bergmann glia during postnatal cerebellar development

A. Driver, R. Stottmann, Christopher Shumrick, 2017 .

A forward genetic screen in mice identifies mutants with abnormal cortical patterning.

D. Beier, A. Furley, Seungshin Ha, 2015, Cerebral cortex.

The Mouse MC13 Mutant Is a Novel ENU Mutation in Collagen Type II, Alpha 1

R. Stottmann, Chelsea Menke, Megan Cionni, 2014, PloS one.

ENU Mutagenesis in the Mouse

D. Beier, R. Stottmann, 2014, Current protocols in mouse biology.

ENU Mutagenesis in the Mouse

D. Beier, R. Stottmann, 2003, Current protocols in human genetics.

Using ENU mutagenesis for phenotype-driven analysis of the mouse.

D. Beier, R. Stottmann, 2010, Methods in enzymology.

A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature

S. Scherer, R. Pfundt, H. Hakonarson, 2023, American journal of medical genetics. Part A.

Unique spatiotemporal requirements for intraflagellar transport genes during forebrain development

S. Brugmann, Ching-Fang Chang, Elizabeth N Schock, 2017, PloS one.

A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice

D. Beier, J. Goto, F. Mangano, 2018, Development.

Grhl2 is required in nonneural tissues for neural progenitor survival and forebrain development

M. Bulyk, Trevor Siggers, D. Beier, 2015, Genesis.

Identification of a Van der Woude syndrome mutation in the cleft palate 1 mutant mouse

B. Bjork, D. Beier, R. Stottmann, 2010, Genesis.

SNP2RFLP: a computational tool to facilitate genetic mapping using benchtop analysis of SNPs

Wesley A. Beckstead, S. Sunyaev, B. Bjork, 2008, Mammalian Genome.

A heterozygous mutation in tubulin, beta 2B ( Tubb2b ) causes cognitive deficits and hippocampal disorganization

C. Vorhees, A. Driver, R. Stottmann, 2017, Genes, brain, and behavior.

Novel genetic tools facilitate the study of cortical neuron migration

R. Stottmann, Chelsea Menke, Megan Cionni, 2016, Mammalian Genome.

Novel genetic tools facilitate the study of cortical neuron migration

R. Stottmann, Chelsea Menke, Megan Cionni, 2015, Mammalian Genome.

Distribution of TAG‐1 and synaptophysin in the developing cerebellar cortex: Relationship to Purkinje cell dendritic development

R. Stottmann, R. Rivas, Rolf W. Stottmann, 1998, The Journal of comparative neurology.

A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay

H. Mefford, F. Brancati, M. McDonald, 2021, HGG advances.

A novel mutation in the gene encoding noggin is not causative in human neural tube defects.

J. Klingensmith, M. Hauser, T. George, 2002, Journal of neurogenetics.

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.

Lisa A. Lansdon, O. Devinsky, R. Jech, 2023, American journal of human genetics.

The Impact of CRISPR/Cas9-Based Genomic Engineering on Biomedical Research and Medicine.

D. Go, R. Stottmann, 2016, Current molecular medicine.

P. Fergelot, F. Alkuraya, P. Bayrak-Toydemir, 2023, Journal of Medical Genetics.

Genetic and phenotypic heterogeneity in KIAA0753‐related ciliopathies

D. Doherty, R. Stottmann, K. Weaver, 2021, American journal of medical genetics. Part A.

CNS Glycosylphosphatidylinositol Deficiency Results in Delayed White Matter Development, Ataxia, and Premature Death in a Novel Mouse Model

R. Stottmann, M. Lukacs, 2019, bioRxiv.