S. Christian

S. Christian, E. Cook, E. Courchesne, 2008, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14

D. Ledbetter, S. Christian, W. Dobyns, 2001, Journal of medical genetics.

Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria

Joseph T. Glessner, S. Christian, J. Glessner, 2013, PLoS genetics.

Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome.

D. Ledbetter, J. Sutcliffe, S. Christian, 1996, American journal of medical genetics.

Report of the fourth international workshop on human chromosome 15 mapping 1997

D. J. Driscoll, S. Christian, T. Lerner, 1999, Cytogenetic and Genome Research.

Intrauterine Growth Retardation Associated with Maternal Uniparental Disomy for Chromosome 6 Unmasked by Congenital Adrenal Hyperplasia

D. Ledbetter, S. Christian, M. New, 1999, Pediatric Research.

Identification of a novel paternally expressed transcript adjacent to snRPN in the Prader-Willi syndrome critical region.

D. Ledbetter, J. Sutcliffe, S. Christian, 1996, Genome research.

CYTOGENETIC AND AGE‐DEPENDENT RISK FACTORS ASSOCIATED WITH UNIPARENTAL DISOMY 15

D. Ledbetter, S. Christian, S. Schuffenhauer, 1996, Prenatal diagnosis.

Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15

D. Ledbetter, S. Christian, S. Schuffenhauer, 2000, Clinical Genetics.

Microcephaly, sensorineural deafness and Currarino triad with duplication–deletion of distal 7q

S. Christian, N. Nowak, W. Dobyns, 2009, European Journal of Pediatrics.

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

J. Rosenfeld, W. Chung, L. Shaffer, 2011, European Journal of Human Genetics.

Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.

S. Christian, J. Golden, E. Marsh, 2009, Brain : a journal of neurology.

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2

L. Shaffer, E. Zackai, S. Christian, 2008, American journal of medical genetics. Part A.

PRENATAL DIAGNOSIS OF AN INFANT WITH MOSAIC TRISOMY 16 OF PATERNAL ORIGIN

D. Ledbetter, S. Christian, D. Sherer, 1996, Prenatal diagnosis.

PRENATAL DIAGNOSIS OF UNIPARENTAL DISOMY 15 FOLLOWING TRISOMY 15 MOSAICISM

D. Ledbetter, U. Surti, S. Christian, 1996, Prenatal diagnosis.

A variety of genetic mechanisms are associated with the Prader-Willi syndrome.

D. Ledbetter, S. Christian, T. Woodage, 1994, American journal of medical genetics.

The spectrum of mutations in UBE3A causing Angelman syndrome.

D. Ledbetter, J. Sutcliffe, S. Christian, 1999, Human molecular genetics.

Neuronally-expressed necdin gene: an imprinted candidate gene in Prader-Willi syndrome

D. Ledbetter, J. Sutcliffe, S. Christian, 1997, The Lancet.

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

S. Scherer, J. Sutcliffe, D. Geschwind, 2009, PloS one.

De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.

Laurie E. Seltzer, William B Dobyns, S. Christian, 2014, American journal of human genetics.

Fine mapping supports previous linkage evidence for a bipolar disorder susceptibility locus on 13q32.

S. Christian, E. Gershon, J. Badner, 2001, American journal of medical genetics.

Introduction to Genetics

S. Christian, W. Dobyns, Soma Das, 2012 .

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

D. Ledbetter, S. Christian, J. Fantes, 1999, Human molecular genetics.

Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome.

D. Ledbetter, S. Christian, P. Simi, 1997, American journal of human genetics.

Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes

D. Ledbetter, S. Christian, J. Crolla, 1996, Human Genetics.

Disruption of contactin 4 in three subjects with autism spectrum disorder

S. Christian, N. Nowak, E. Hatchwell, 2008, Journal of Medical Genetics.

Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination.

D. Ledbetter, S. Christian, S. Schuffenhauer, 1998, Human molecular genetics.

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

D. Ledbetter, J. Sutcliffe, S. Christian, 1994, Nature Genetics.

An evaluation of the assembly of an approximately 15-Mb region on human chromosome 13q32-q33 linked to bipolar disorder and schizophrenia.

S. Christian, A. Chakravarti, E. Gershon, 2002, Genomics.

Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb.

D. Ledbetter, J. Sutcliffe, S. Christian, 1998, Genome research.

The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region.

J. Bressler, D. Ledbetter, J. Sutcliffe, 1997, Genome research.

Autism as a paradigmatic complex genetic disorder.

Edwin H Cook, S. Christian, E. Cook, 2004, Annual review of genomics and human genetics.

Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q

D. Ledbetter, S. Christian, V. Dyomin, 2002, Journal of medical genetics.

Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.

D. Ledbetter, U. Surti, S. Christian, 1995, American journal of human genetics.

Two 22q telomere deletions serendipitously detected by FISH.

D. Ledbetter, S. Christian, P. Huttenlocher, 1998, Journal of medical genetics.

Methylation-specific PCR simplifies imprinting analysis.

D. Ledbetter, S. Christian, J. Herman, 1997 .

No evidence for association between 19 cholinergic genes and bipolar disorder

S. Christian, Chunyu Liu, E. Gershon, 2007, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism

Ravinesh A. Kumar, S. Christian, E. Cook, 2009, Journal of Medical Genetics.

Methylation-specif ic PCR simplifies imprinting analysis

D. Ledbetter, S. Christian, J. Herman, 1997, Nature genetics.

Genetics of autism spectrum disorders

Ravinesh A. Kumar, S. Christian, Susan L Christian, 2009, Current neurology and neuroscience reports.

Robertsonian (15q;15q) translocation in a child with Angelman syndrome: evidence of uniparental disomy.

Golder N Wilson, D. Ledbetter, S. Christian, 1996, American journal of medical genetics.

Duplication 16p11.2 in a child with infantile seizure disorder

Ravinesh A. Kumar, S. Christian, D. M. Martin, 2010, American journal of medical genetics. Part A.

Linkage disequilibrium of the brain-derived neurotrophic factor Val66Met polymorphism in children with a prepubertal and early adolescent bipolar disorder phenotype.

S. Christian, E. Cook, J. Badner, 2004, The American journal of psychiatry.

A 2-base pair deletion polymorphism in the partial duplication of the α7 nicotinic acetylcholine gene (CHRFAM7A) on chromosome 15q14 is associated with schizophrenia

S. Christian, J. Gault, R. Freedman, 2009, Brain Research.

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

William B Dobyns, Polina Bukshpun, Christopher Sullivan, 2013, American journal of medical genetics. Part A.

The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles

H. Peeters, J. Sebat, D. Malhotra, 2015, Journal of child neurology.

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.

Joseph B Hiatt, J. Shendure, B. O’Roak, 2015, Brain : a journal of neurology.

PI 3 K / AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

Joseph B Hiatt, J. Shendure, B. O’Roak, 2015 .

Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus.

D. Ledbetter, S. Christian, B. Rich, 1999, The Journal of pediatrics.

DNannotator: annotation software tool kit for regional genomic sequences

Chunyu Liu, Tu H. Nguyen, Tom I. Bonner, 2003, Nucleic Acids Res..

Copy number and sequence variants implicate APBA2 as an autism candidate gene

Ravinesh A. Kumar, S. Christian, W. Dobyns, 2009, Autism research : official journal of the International Society for Autism Research.

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature

E. Zackai, S. Christian, L. Medne, 2014, American journal of medical genetics. Part A.

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

S. Christian, D. Horn, J. Golden, 2008, Nature genetics.

X Chromosome-Inactivation Patterns in 31 Individuals with PHACE Syndrome

S. Christian, C. Sullivan, W. Dobyns, 2012, Molecular Syndromology.

Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation

S. Christian, W. Dobyns, B. Paschal, 2013, European Journal of Human Genetics.

Fine mapping provides further linkage evidence for a Bipolar disorder susceptibility locus on 13q32

S. Christian, Chunyu Liu, E. Gershon, 2000 .

Report of the fourth international workshop on human chromosome 15 mapping 1997.

D. J. Driscoll, S. Christian, T. Lerner, 1999, Cytogenetics and cell genetics.

Parental decisions following prenatal diagnosis of sex chromosome aneuploidy: a trend over time

S. Christian, R. D. Wilson, R. Wilson, 2000, Prenatal diagnosis.

A 5-year-old white girl with Prader-Willi syndrome and a submicroscopic deletion of chromosome 15q11q13.

D. Ledbetter, S. Christian, M. Butler, 1996, American journal of medical genetics.