The genetics of cerebellar malformations

Por Aldinger, Kimberly A., Doherty, Dan
Publicado no Semin Fetal Neonatal Med (2016)

Comparative DNA methylation among females with neurodevelopmental disorders and seizures identifies TAC1 as a MeCP2 target gene

Por Aldinger, Kimberly A, Plummer, Jasmine T, Levitt, Pat
Publicado em 2013

Model organisms inform the search for the genes and developmental pathology underlying malformations of the human hindbrain

Por Aldinger, Kimberly A., Elsen, Gina E., Prince, Victoria E., Millen, Kathleen J.
Publicado em 2009

Patterns of Risk for Multiple Co‐Occurring Medical Conditions Replicate Across Distinct Cohorts of Children with Autism Spectrum Disorder

Por Aldinger, Kimberly A., Lane, Christianne J., Veenstra‐VanderWeele, Jeremy, Levitt, Pat
Publicado no Autism Res (2015)

Genetic Variation and Population Substructure in Outbred CD-1 Mice: Implications for Genome-Wide Association Studies

Por Aldinger, Kimberly A., Sokoloff, Greta, Rosenberg, David M., Palmer, Abraham A., Millen, Kathleen J.
Publicado em 2009

Recessive Developmental Delay, Small Stature, Microcephaly and Brain Calcifications with Locus on Chromosome 2

Por Rajab, Anna, Aldinger, Kimberly A., El-Shirbini, Hisham Ali, Dobyns, William B., Ross, M. Elizabeth
Publicado em 2009

Phenotypic and genetic analysis of the cerebellar mutant tmgc26, a new ENU-induced ROR-alpha allele

Por Swanson, Douglas, Steshina, Ekaterina Y., Wakenight, Paul, Aldinger, Kimberly A., Goldowitz, Daniel, Millen, Kathleen J., Chizhikov, Victor V.
Publicado em 2010

The spontaneous ataxic mouse mutant tippy is characterized by a novel Purkinje cell morphogenesis and degeneration phenotype

Por Shih, Evelyn K., Sekerková, Gabriella, Ohtsuki, Gen, Aldinger, Kimberly A., Chizhikov, Victor V., Hansel, Christian, Mugnaini, Enrico, Millen, Kathleen J.
Publicado no Cerebellum (2015)

Lmx1a regulates fates and location of cells originating from the cerebellar rhombic lip and telencephalic cortical hem

Por Chizhikov, Victor V., Lindgren, Anne G., Mishima, Yuriko, Roberts, Richard W., Aldinger, Kimberly A., Miesegaes, George R., Currle, D. Spencer, Monuki, Edwin S., Millen, Kathleen J.
Publicado em 2010

Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations

Por Aldinger, Kimberly A., Mendelsohn, Nancy J., Chung, Brian H.Y., Zhang, Wenjuan, Cohn, Daniel H., Fernandez, Bridget, Alkuraya, Fowzan S., Dobyns, William B., Curry, Cynthia J.
Publicado no J Med Genet (2015)

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation

Por Aldinger, Kimberly A, Lehmann, Ordan J, Hudgins, Louanne, Chizhikov, Victor V, Bassuk, Alexander G, Ades, Lesley C, Krantz, Ian D, Dobyns, William B, Millen, Kathleen J
Publicado em 2009

A Novel Rasopathy Caused by Recurrent De Novo Missense Mutations In PPP1CB Closely Resembles Noonan Syndrome with Loose Anagen Hair

Por Gripp, Karen W., Aldinger, Kimberly A., Bennett, James T., Baker, Laura, Tusi, Jessica, Powell-Hamilton, Nina, Stabley, Deborah, Sol-Church, Katia, Timms, Andrew E., Dobyns, William B.
Publicado no Am J Med Genet A (2016)

Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms

Por Haldipur, Parthiv, Dang, Derek, Aldinger, Kimberly A, Janson, Olivia K, Guimiot, Fabien, Adle-Biasette, Homa, Dobyns, William B, Siebert, Joseph R, Russo, Rosa, Millen, Kathleen J
Publicado no eLife (2017)

Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion

Por Aldinger, Kimberly A., Kogan, Jillene, Kimonis, Virginia, Fernandez, Bridget, Horn, Denise, Klopocki, Eva, Chung, Brian, Toutain, Annick, Weksberg, Rosanna, Millen, Kathleen J., Barkovich, A. James, Dobyns, William B.
Publicado em 2012

Genomic Survey of Prepulse Inhibition in Mouse Chromosome Substitution Strains

Por Leussis, Melanie P., Frayne, Megan L., Saito, Mai, Berry, Erin M., Aldinger, Kimberly A., Rockwell, Graham N., Hammer, Ronald P., Baskin-Hill, Annie E., Singer, Jonathan B., Nadeau, Joseph H., Sklar, Pamela, Petryshen, Tracey L.
Publicado em 2009

Pleiotropic Mechanisms Indicated for Sex Differences in Autism

Por Mitra, Ileena, Tsang, Kathryn, Ladd-Acosta, Christine, Croen, Lisa A., Aldinger, Kimberly A., Hendren, Robert L., Traglia, Michela, Lavillaureix, Alinoë, Zaitlen, Noah, Oldham, Michael C., Levitt, Pat, Nelson, Stanley, Amaral, David G., Herz-Picciotto, Irva, Fallin, M. Daniele, Weiss, Lauren A.
Publicado no PLoS Genet (2016)

Association and Mutation Analyses of 16p11.2 Autism Candidate Genes

Por Kumar, Ravinesh A., Marshall, Christian R., Badner, Judith A., Babatz, Timothy D., Mukamel, Zohar, Aldinger, Kimberly A., Sudi, Jyotsna, Brune, Camille W., Goh, Gerald, KaraMohamed, Samer, Sutcliffe, James S., Cook, Edwin H., Geschwind, Daniel H., Dobyns, William B., Scherer, Stephen W., Christian, Susan L.
Publicado em 2009

Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy

Por Aldinger, Kimberly A., Mosca, Stephen J., Tétreault, Martine, Dempsey, Jennifer C., Ishak, Gisele E., Hartley, Taila, Phelps, Ian G., Lamont, Ryan E., O’Day, Diana R., Basel, Donald, Gripp, Karen W., Baker, Laura, Stephan, Mark J., Bernier, Francois P., Boycott, Kym M., Majewski, Jacek, Parboosingh, Jillian S., Innes, A. Micheil, Doherty, Dan
Publicado em 2014

Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy

Por Aldinger, Kimberly A., Mosca, Stephen J., Tétreault, Martine, Dempsey, Jennifer C., Ishak, Gisele E., Hartley, Taila, Phelps, Ian G., Lamont, Ryan E., O’Day, Diana R., Basel, Donald, Gripp, Karen W., Baker, Laura, Stephan, Mark J., Bernier, Francois P., Boycott, Kym M., Majewski, Jacek, Parboosingh, Jillian S., Innes, A. Micheil, Doherty, Dan
Publicado em 2014

Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity

Por Jalali, Ali, Aldinger, Kimberly A., Chary, Ajit, Mclone, David G., Bowman, Robin M., Le, Luan Cong, Jardine, Phillip, Newbury-Ecob, Ruth, Mallick, Andrew, Jafari, Nadereh, Russell, Eric J., Curran, John, Nguyen, Pam, Ouahchi, Karim, Lee, Charles, Dobyns, William B., Millen, Kathleen J., Pina-Neto, Joao M., Kessler, John A., Bassuk, Alexander G.
Publicado em 2008