Publications by authors named "Susan L Christian"

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The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles.
Mary Kusenda, Vladimir Vacic, Dheeraj Malhotra, Linda Rodgers, Kevin Pavon, Susan L Christian

J Child Neurol· December 2015

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PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
Laura A Jansen, Ghayda M Mirzaa, Gisele E Ishak, Brian J O'Roak, Joseph B Hiatt, Susan L Christian

Brain· June 2015

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Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.
Alex R Paciorkowski, Judy Weisenberg, Joshua B Kelley, Adam Spencer, Emily Tuttle, Susan L Christian

Eur J Hum Genet· May 2014

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De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.
Thomas D Cushion, Alex R Paciorkowski, Daniela T Pilz, Jonathan G L Mullins, Laurie E Seltzer, Susan L Christian

Am J Hum Genet· April 2014

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Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Samin A Sajan, Liliana Fernandez, Sahar Esmaeeli Nieh, Eric Rider, Polina Bukshpun, Susan L Christian

PLoS Genet· March 2014

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Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.
Alex R Paciorkowski, Kim Keppler-Noreuil, Luther Robinson, Christopher Sullivan, Samin Sajan, Susan L Christian

Am J Med Genet A· July 2013

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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
Jean-Baptiste Rivière, Bregje W M van Bon, Alexander Hoischen, Stanislav S Kholmanskikh, Brian J O'Roak, Christian Gilissen, Susan L Christian

Nat Genet· February 2012

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Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.
Alex R Paciorkowski, Liu Lin Thio, Jill A Rosenfeld, Marzena Gajecka, Christina A Gurnett, Susan L Christian

Eur J Hum Genet· December 2011

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Duplication 16p11.2 in a child with infantile seizure disorder.
Jirair K Bedoyan, Ravinesh A Kumar, Jyotsna Sudi, Faye Silverstein, Todd Ackley, Susan L Christian

Am J Med Genet A· June 2010

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Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.
Piero Pavone, Martino Ruggieri, Ilaria Lombardo, Jyotsna Sudi, Roberta Biancheri, Susan L Christian

Eur J Pediatr· April 2010

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A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism.
Ravinesh A Kumar, Jyotsna Sudi, Timothy D Babatz, Camille W Brune, Donald Oswald, Susan L Christian

J Med Genet· February 2010

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Copy number and sequence variants implicate APBA2 as an autism candidate gene.
Timothy D Babatz, Ravinesh A Kumar, Jyotsna Sudi, William B Dobyns, Susan L Christian

Autism Res· December 2009

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Microduplications of 16p11.2 are associated with schizophrenia.
Shane E McCarthy, Vladimir Makarov, George Kirov, Anjene M Addington, Jon McClellan, Susan L Christian

Nat Genet· November 2009

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A 2-base pair deletion polymorphism in the partial duplication of the alpha7 nicotinic acetylcholine gene (CHRFAM7A) on chromosome 15q14 is associated with schizophrenia.
Melissa L Sinkus, Michael J Lee, Judith Gault, Judith Logel, Margaret Short, Susan L Christian

Brain Res· September 2009

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Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.
Eric Marsh, Carl Fulp, Ernest Gomez, Ilya Nasrallah, Jeremy Minarcik, Susan L Christian

Brain· June 2009

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Genetics of autism spectrum disorders.
Ravinesh A Kumar, Susan L Christian

Curr Neurol Neurosci Rep· May 2009

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Association and mutation analyses of 16p11.2 autism candidate genes.
Ravinesh A Kumar, Christian R Marshall, Judith A Badner, Timothy D Babatz, Zohar Mukamel, Susan L Christian

PLoS One· April 2009

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Transmission disequilibrium testing of the chromosome 15q11-q13 region in autism.
Soo-Jeong Kim, Camille W Brune, Emily O Kistner, Susan L Christian, Eric H Courchesne

Am J Med Genet B Neuropsychiatr Genet· October 2008

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Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
Juliane Najm, Denise Horn, Isabella Wimplinger, Jeffrey A Golden, Victor V Chizhikov, Susan L Christian

Nat Genet· September 2008

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Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
William B Dobyns, Ghayda Mirzaa, Susan L Christian, Kristin Petras, Jessica Roseberry

Am J Med Genet A· July 2008

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Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Susan L Christian, Camille W Brune, Jyotsna Sudi, Ravinesh A Kumar, Shaung Liu

Biol Psychiatry· June 2008

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Recurrent 16p11.2 microdeletions in autism.
Ravinesh A Kumar, Samer KaraMohamed, Jyotsna Sudi, Donald F Conrad, Camille Brune, Susan L Christian

Hum Mol Genet· February 2008

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No evidence for association between 19 cholinergic genes and bipolar disorder.
Jiajun Shi, Eiji Hattori, Hongwei Zou, Judith A Badner, Susan L Christian

Am J Med Genet B Neuropsychiatr Genet· September 2007

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Autism as a paradigmatic complex genetic disorder.
Jeremy Veenstra-Vanderweele, Susan L Christian, Edwin H Cook

Annu Rev Genomics Hum Genet· November 2004

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Linkage disequilibrium of the brain-derived neurotrophic factor Val66Met polymorphism in children with a prepubertal and early adolescent bipolar disorder phenotype.
Barbara Geller, Judith A Badner, Rebecca Tillman, Susan L Christian, Kristine Bolhofner

Am J Psychiatry· September 2004

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