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 | 898 | 2010 |
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 | 826 | 2008 |
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 | 819 | 2009 |
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 | 481 | 1994 |
Autism as a paradigmatic complex genetic disorder J Veenstra-VanderWeele, SL Christian, EH Cook, Jr Annu. Rev. Genomics Hum. Genet. 5 (1), 379-405, 2004 | 386 | 2004 |
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 | 375 | 2008 |
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 | 366 | 2015 |
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 | 338 | 1999 |
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 | 335 | 1997 |
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 | 329 | 2003 |
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 | 323 | 2008 |
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 | 308 | 2012 |
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 | 256 | 2004 |
Genetics of autism spectrum disorders RA Kumar, SL Christian Current neurology and neuroscience reports 9 (3), 188-197, 2009 | 212 | 2009 |
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 | 211 | 1995 |
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 | 205 | 1999 |
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 | 201 | 2009 |
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 | 188 | 2009 |
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 | 174 | 2009 |
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 | 149 | 1998 |