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Susan  L Christian
Susan L Christian
Email verificata su seattlechildrens.org
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Citata da
Citata da
Anno
New loci associated with kidney function and chronic kidney disease
A Köttgen, C Pattaro, CA Böger, C Fuchsberger, M Olden, NL Glazer, ...
Nature genetics 42 (5), 376-384, 2010
8792010
Recurrent 16p11. 2 microdeletions in autism
RA Kumar, S KaraMohamed, J Sudi, DF Conrad, C Brune, JA Badner, ...
Human molecular genetics 17 (4), 628-638, 2008
8152008
Microduplications of 16p11. 2 are associated with schizophrenia
SE McCarthy, V Makarov, G Kirov, AM Addington, J McClellan, S Yoon, ...
Nature genetics 41 (11), 1223-1227, 2009
8132009
Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region
JS Sutcliffe, M Nakao, S Christian, KH Örstavik, N Tommerup, ...
Nature genetics 8 (1), 52-58, 1994
4791994
Autism as a paradigmatic complex genetic disorder
J Veenstra-VanderWeele, SL Christian, EH Cook, Jr
Annu. Rev. Genomics Hum. Genet. 5, 379-405, 2004
3862004
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder
SL Christian, CW Brune, J Sudi, RA Kumar, S Liu, S Karamohamed, ...
Biological psychiatry 63 (12), 1111-1117, 2008
3682008
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia
LA Jansen, GM Mirzaa, GE Ishak, BJ O'Roak, JB Hiatt, WH Roden, ...
Brain 138 (6), 1613-1628, 2015
3582015
Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11–q13)
SL Christian, JA Fantes, SK Mewborn, B Huang, DH Ledbetter
Human Molecular Genetics 8 (6), 1025-1037, 1999
3341999
Methylation-specif ic PCR simplifies imprinting analysis
T Kubota, S Das, SL Christian, SB Baylin, JG Herman, DH Ledbetter
Nature genetics 16 (1), 16-17, 1997
3321997
Polymorphisms at the G72/G30 gene locus, on 13q33, are associated with bipolar disorder in two independent pedigree series
E Hattori, C Liu, JA Badner, TI Bonner, SL Christian, M Maheshwari, ...
The American Journal of Human Genetics 72 (5), 1131-1140, 2003
3262003
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum
J Najm, D Horn, I Wimplinger, JA Golden, VV Chizhikov, J Sudi, ...
Nature genetics 40 (9), 1065-1067, 2008
3202008
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
JB Rivière, BWM Van Bon, A Hoischen, SS Kholmanskikh, BJ O'Roak, ...
Nature genetics 44 (4), 440-444, 2012
3052012
Linkage Disequilibrium of the Brain-Derived Neurotrophic Factor Val66Met Polymorphism in Children With a Prepubertal and Early Adolescent Bipolar Disorder …
B Geller, JA Badner, R Tillman, SL Christian, K Bolhofner, EH Cook Jr
American Journal of Psychiatry 161 (9), 1698-1700, 2004
2542004
Genetics of autism spectrum disorders
RA Kumar, SL Christian
Current neurology and neuroscience reports 9 (3), 188-197, 2009
2092009
The Spectrum of Mutations in UBE3A Causing Angelman Syndrome
P Fang, E Lev-Lehman, TF Tsai, T Matsuura, CS Benton, JS Sutcliffe, ...
Human molecular genetics 8 (1), 129-135, 1999
2081999
Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.
SL Christian, WP Robinson, B Huang, A Mutirangura, MR Line, M Nakao, ...
American journal of human genetics 57 (1), 40, 1995
2071995
Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females
E Marsh, C Fulp, E Gomez, I Nasrallah, J Minarcik, J Sudi, SL Christian, ...
Brain 132 (6), 1563-1576, 2009
1992009
Disruption of contactin 4 in three subjects with autism spectrum disorder
J Roohi, C Montagna, DH Tegay, LE Palmer, C DeVincent, JC Pomeroy, ...
Journal of medical genetics 46 (3), 176-182, 2009
1842009
Singleton deletions throughout the genome increase risk of bipolar disorder
D Zhang, L Cheng, Y Qian, N Alliey-Rodriguez, JR Kelsoe, T Greenwood, ...
Molecular psychiatry 14 (4), 376-380, 2009
1712009
Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination
WP Robinson, BD Kuchinka, F Bernasconi, MB Petersen, A Schulze, ...
Human molecular genetics 7 (6), 1011-1019, 1998
1481998
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