Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
SNP-PCR genotyping links alterations in the GABAA receptor (GABRG3: rs208129) and RELN (rs73670) genes to autism spectrum disorder among peadiatric Iraqi Arabs.
Molecular Biology Reports
Ali, Zainab A ZA; Yasseen, Akeel A AA; McAllister, Katherine A KA; Al-Dujailli, Arafat A; Al-Karaqully, Ahmed J AJ; Jumaah, Alaa S AS
A systematic review of common genetic variation and biological pathways in autism spectrum disorder.
Bmc Neuroscience
Rodriguez-Gomez, Diego Alejandro DA; Garcia-Guaqueta, Danna Paola DP; Charry-Sánchez, Jesús David JD; Sarquis-Buitrago, Elias E; Blanco, Mariana M; Velez-van-Meerbeke, Alberto A; Talero-Gutiérrez, Claudia C
Association of Allelic Variants of the Reelin Gene with Autistic Spectrum Disorder: A Systematic Review and Meta-Analysis of Candidate Gene Association Studies.
International Journal Of Environmental Research And Public Health
Hernández-García, Ignacio I; Chamorro, Antonio-Javier AJ; Ternavasio-de la Vega, Hugo Guillermo HG; Carbonell, Cristina C; Marcos, Miguel M; Mirón-Canelo, José-Antonio JA
Genetic Variation and Autism: A Field Synopsis and Systematic Meta-Analysis.
Brain Sciences
Lee, Jinhee J; Son, Min Ji MJ; Son, Chei Yun CY; Jeong, Gwang Hun GH; Lee, Keum Hwa KH; Lee, Kwang Seob KS; Ko, Younhee Y; Kim, Jong Yeob JY; Lee, Jun Young JY; Radua, Joaquim J; Eisenhut, Michael M; Gressier, Florence F; Koyanagi, Ai A; Stubbs, Brendon B; Solmi, Marco M; Rais, Theodor B TB; Kronbichler, Andreas A; Dragioti, Elena E; Vasconcelos, Daniel Fernando Pereira DFP; Silva, Felipe Rodolfo Pereira da FRPD; Tizaoui, Kalthoum K; Brunoni, André Russowsky AR; Carvalho, Andre F AF; Cargnin, Sarah S; Terrazzino, Salvatore S; Stickley, Andrew A; Smith, Lee L; Thompson, Trevor T; Shin, Jae Il JI; Fusar-Poli, Paolo P
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
Epilepsia Open
Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S
Publication Date: 2019-09
Variant appearance in text: RELN: 2989C>T; Leu997Phe
Sex-Specific Genetic Susceptibility to Adverse Neurodevelopmental Outcome in Offspring of Pregnancies at Risk of Early Preterm Delivery.
American Journal Of Perinatology
Varner, Michael W MW; Costantine, Maged M MM; Jablonski, Kathleen A KA; Rouse, Dwight J DJ; Mercer, Brian M BM; Leveno, Kenneth J KJ; Reddy, Uma M UM; Buhimschi, Catalin C; Wapner, Ronald J RJ; Sorokin, Yoram Y; Thorp, John M JM; Ramin, Susan M SM; Malone, Fergal D FD; Carpenter, Marshall M; O'sullivan, Mary J MJ; Peaceman, Alan M AM; Dudley, Donald J DJ; Caritis, Steve N SN; ,
Imaging genetics in neurodevelopmental psychopathology.
American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Klein, Marieke M; van Donkelaar, Marjolein M; Verhoef, Ellen E; Franke, Barbara B
Association study between autistic-like traits and polymorphisms in the autism candidate regions RELN, CNTNAP2, SHANK3, and CDH9/10.
Molecular Autism
Jonsson, Lina L; Zettergren, Anna A; Pettersson, Erik E; Hovey, Daniel D; Anckarsäter, Henrik H; Westberg, Lars L; Lichtenstein, Paul P; Lundström, Sebastian S; Melke, Jonas J
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Association of polymorphisms in neuroprotection and oxidative stress genes and neurodevelopmental outcomes after preterm birth.
Obstetrics And Gynecology
Costantine, Maged M MM; Clark, Erin A S EA; Lai, Yinglei Y; Rouse, Dwight J DJ; Spong, Catherine Y CY; Mercer, Brian M BM; Sorokin, Yoram Y; Thorp, John M JM; Ramin, Susan M SM; Malone, Fergal D FD; Carpenter, Marshall M; Miodovnik, Menachem M; O'Sullivan, Mary J MJ; Peaceman, Alan M AM; Caritis, Steve N SN