Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: PACS1: 607C>T; Arg203Trp
Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies-Experience from a Local Prenatal Diagnostic Laboratory.
Healthcare (Basel, Switzerland)
Lai, Theodora Hei Tung THT; Au, Leung Kuen Sandy LKS; Lau, Yuen Ting Eunice YTE; Lo, Hei Man HM; Chan, Kelvin Yuen Kwong KYK; Cheung, Ka Wang KW; Ma, Teresa Wei Ling TWL; Leung, Wing Cheong WC; Kong, Choi Wah CW; Shu, Wendy W; So, Po Lam PL; Kwong, Anna Ka Yee AKY; Mak, Christopher Chun Yu CCY; Lee, Mianne M; Chui, Martin Man Chun MMC; Chung, Brian Hon Yin BHY; Kan, Anita Sik Yau ASY
Publication Date: 2022-12-13
Variant appearance in text: PACS1: 607C>T; Arg203Trp
A Novel PACS1 Variant Associated With Schuurs-Hoeijmakers Syndrome Phenotype in an Indigenous Descendant in Brazil: A Case Report.
Cureus
Lucena, Pedro H PH; Nonaka, Carolina C; Armani-Franceschi, Giulia G; Carneiro, Pedro P; Sales, Henrique H; Lucena, Mariana M; Bandeira, Igor D ID; Solano, Bruno B; Lucena, Rita R
Publication Date: 2022-10
Variant appearance in text: PACS1: 607C>T; Arg203Trp
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients.
American Journal Of Medical Genetics. Part A
Bruno, Lucia Pia LP; Doddato, Gabriella G; Baldassarri, Margherita M; Rizzo, Caterina Lo CL; Resciniti, Sara S; Bruttini, Mirella M; Mirjam, Lista L; Zguro, Kristina K; Furini, Simone S; Mencarelli, Maria Antonietta MA; Renieri, Alessandra A; Ariani, Francesca F
Publication Date: 2022-10-09
Variant appearance in text: PACS1: 607C>T; Arg203Trp; rs398123009
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.
European Journal Of Human Genetics : Ejhg
van der Sanden, Bart P G H BPGH; Schobers, Gaby G; Corominas Galbany, Jordi J; Koolen, David A DA; Sinnema, Margje M; van Reeuwijk, Jeroen J; Stumpel, Connie T R M CTRM; Kleefstra, Tjitske T; de Vries, Bert B A BBA; Ruiterkamp-Versteeg, Martina M; Leijsten, Nico N; Kwint, Michael M; Derks, Ronny R; Swinkels, Hilde H; den Ouden, Amber A; Pfundt, Rolph R; Rinne, Tuula T; de Leeuw, Nicole N; Stegmann, Alexander P AP; Stevens, Servi J SJ; van den Wijngaard, Arthur A; Brunner, Han G HG; Yntema, Helger G HG; Gilissen, Christian C; Nelen, Marcel R MR; Vissers, Lisenka E L M LELM
Publication Date: 2022-09-16
Variant appearance in text: PACS1: 607C>T; Arg203Trp
Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches.
International Journal Of Molecular Sciences
Arnedo, María M; Ascaso, Ángela Á; Latorre-Pellicer, Ana A; Lucia-Campos, Cristina C; Gil-Salvador, Marta M; Ayerza-Casas, Ariadna A; Pablo, María Jesús MJ; Gómez-Puertas, Paulino P; Ramos, Feliciano J FJ; Bueno-Lozano, Gloria G; Pié, Juan J; Puisac, Beatriz B
Publication Date: 2022-08-25
Variant appearance in text: PACS1: 607C>T; Arg203Trp
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.
Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.
Nature Communications
Naslavsky, Michel S MS; Scliar, Marilia O MO; Yamamoto, Guilherme L GL; Wang, Jaqueline Yu Ting JYT; Zverinova, Stepanka S; Karp, Tatiana T; Nunes, Kelly K; Ceroni, José Ricardo Magliocco JRM; de Carvalho, Diego Lima DL; da Silva Simões, Carlos Eduardo CE; Bozoklian, Daniel D; Nonaka, Ricardo R; Dos Santos Brito Silva, Nayane N; da Silva Souza, Andreia A; de Souza Andrade, Heloísa H; Passos, Marília Rodrigues Silva MRS; Castro, Camila Ferreira Bannwart CFB; Mendes-Junior, Celso T CT; Mercuri, Rafael L V RLV; Miller, Thiago L A TLA; Buzzo, Jose Leonel JL; Rego, Fernanda O FO; Araújo, Nathalia M NM; Magalhães, Wagner C S WCS; Mingroni-Netto, Regina Célia RC; Borda, Victor V; Guio, Heinner H; Rojas, Carlos P CP; Sanchez, Cesar C; Caceres, Omar O; Dean, Michael M; Barreto, Mauricio L ML; Lima-Costa, Maria Fernanda MF; Horta, Bernardo L BL; Tarazona-Santos, Eduardo E; Meyer, Diogo D; Galante, Pedro A F PAF; Guryev, Victor V; Castelli, Erick C EC; Duarte, Yeda A O YAO; Passos-Bueno, Maria Rita MR; Zatz, Mayana M
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Human Genomics
Nassir, Nasna N; Bankapur, Asma A; Samara, Bisan B; Ali, Abdulrahman A; Ahmed, Awab A; Inuwa, Ibrahim M IM; Zarrei, Mehdi M; Safizadeh Shabestari, Seyed Ali SA; AlBanna, Ammar A; Howe, Jennifer L JL; Berdiev, Bakhrom K BK; Scherer, Stephen W SW; Woodbury-Smith, Marc M; Uddin, Mohammed M
Publication Date: 2021-11-21
Variant appearance in text: PACS1: R203W; rs398123009
Systematic Review and Bioinformatic Analysis of microRNA Expression in Autism Spectrum Disorder Identifies Pathways Associated With Cancer, Metabolism, Cell Signaling, and Cell Adhesion.
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
Plos Genetics
Audain, Enrique E; Wilsdon, Anna A; Breckpot, Jeroen J; Izarzugaza, Jose M G JMG; Fitzgerald, Tomas W TW; Kahlert, Anne-Karin AK; Sifrim, Alejandro A; Wünnemann, Florian F; Perez-Riverol, Yasset Y; Abdul-Khaliq, Hashim H; Bak, Mads M; Bassett, Anne S AS; Benson, D Woodrow DW; Berger, Felix F; Daehnert, Ingo I; Devriendt, Koenraad K; Dittrich, Sven S; Daubeney, Piers Ef PE; Garg, Vidu V; Hackmann, Karl K; Hoff, Kirstin K; Hofmann, Philipp P; Dombrowsky, Gregor G; Pickardt, Thomas T; Bauer, Ulrike U; Keavney, Bernard D BD; Klaassen, Sabine S; Kramer, Hans-Heiner HH; Marshall, Christian R CR; Milewicz, Dianna M DM; Lemaire, Scott S; Coselli, Joseph S JS; Mitchell, Michael E ME; Tomita-Mitchell, Aoy A; Prakash, Siddharth K SK; Stamm, Karl K; Stewart, Alexandre F R AFR; Silversides, Candice K CK; Siebert, Reiner R; Stiller, Brigitte B; Rosenfeld, Jill A JA; Vater, Inga I; Postma, Alex V AV; Caliebe, Almuth A; Brook, J David JD; Andelfinger, Gregor G; Hurles, Matthew E ME; Thienpont, Bernard B; Larsen, Lars Allan LA; Hitz, Marc-Phillip MP
Publication Date: 2021-07
Variant appearance in text: PACS1: 607C>T; Arg203Trp
Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.
Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Genome Medicine
Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A
Publication Date: 2021-03-17
Variant appearance in text: PACS1: 607C>T; Arg203Trp
A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: A Case Series of Ultrarare Genetic Cause and Novel Mutation Analysis in a Pilot Study.
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.
Npj Genomic Medicine
Fung, Jasmine L F JLF; Yu, Mullin H C MHC; Huang, Shushu S; Chung, Claudia C Y CCY; Chan, Marcus C Y MCY; Pajusalu, Sander S; Mak, Christopher C Y CCY; Hui, Vivian C C VCC; Tsang, Mandy H Y MHY; Yeung, Kit San KS; Lek, Monkol M; Chung, Brian H Y BHY
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ganesan, Shiva S; Galer, Peter D PD; Helbig, Katherine L KL; McKeown, Sarah E SE; O'Brien, Margaret M; Gonzalez, Alexander K AK; Felmeister, Alex S AS; Khankhanian, Pouya P; Ellis, Colin A CA; Helbig, Ingo I
Publication Date: 2020-12
Variant appearance in text: PACS1: 607C>T; Arg203Trp
mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.
Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
The multifunctional protein PACS-1 is required for HDAC2- and HDAC3-dependent chromatin maturation and genomic stability.
Oncogene
Mani, Chinnadurai C; Tripathi, Kaushlendra K; Luan, Shan S; Clark, David W DW; Andrews, Joel F JF; Vindigni, Alessandro A; Thomas, Gary G; Palle, Komaraiah K
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Gubbels, Cynthia S CS; VanNoy, Grace E GE; Madden, Jill A JA; Copenheaver, Deborah D; Yang, Sandra S; Wojcik, Monica H MH; Gold, Nina B NB; Genetti, Casie A CA; Stoler, Joan J; Parad, Richard B RB; Roumiantsev, Sergei S; Bodamer, Olaf O; Beggs, Alan H AH; Juusola, Jane J; Agrawal, Pankaj B PB; Yu, Timothy W TW
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: PACS1: 607C>T; Arg203Trp
A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.
Cold Spring Harbor Molecular Case Studies
Ji, Jianling J; Shen, Lishuang L; Bootwalla, Moiz M; Quindipan, Catherine C; Tatarinova, Tatiana T; Maglinte, Dennis T DT; Buckley, Jonathan J; Raca, Gordana G; Saitta, Sulagna C SC; Biegel, Jaclyn A JA; Gai, Xiaowu X
Publication Date: 2019-04
Variant appearance in text: PACS1: 607C>T; Arg203Trp
Schafer, Simon T ST; Paquola, Apua C M ACM; Stern, Shani S; Gosselin, David D; Ku, Manching M; Pena, Monique M; Kuret, Thomas J M TJM; Liyanage, Marvin M; Mansour, Abed AlFatah AA; Jaeger, Baptiste N BN; Marchetto, Maria C MC; Glass, Christopher K CK; Mertens, Jerome J; Gage, Fred H FH
Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
van der Donk, Roos R; Jansen, Sandra S; Schuurs-Hoeijmakers, Janneke H M JHM; Koolen, David A DA; Goltstein, Lia C M J LCMJ; Hoischen, Alexander A; Brunner, Han G HG; Kemmeren, Patrick P; Nellåker, Christoffer C; Vissers, Lisenka E L M LELM; de Vries, Bert B A BBA; Hehir-Kwa, Jayne Y JY
Publication Date: 2019-08
Variant appearance in text: PACS1: 607C>T; Arg203Trp
The evolution of a series of behavioral traits is associated with autism-risk genes in cavefish.
Bmc Evolutionary Biology
Yoshizawa, Masato M; Settle, Alexander A; Hermosura, Meredith C MC; Tuttle, Lillian J LJ; Cetraro, Nicolas N; Passow, Courtney N CN; McGaugh, Suzanne E SE
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
American Journal Of Human Genetics
Olson, Heather E HE; Jean-Marçais, Nolwenn N; Yang, Edward E; Heron, Delphine D; Tatton-Brown, Katrina K; van der Zwaag, Paul A PA; Bijlsma, Emilia K EK; Krock, Bryan L BL; Backer, E E; Kamsteeg, Erik-Jan EJ; Sinnema, Margje M; Reijnders, Margot R F MRF; Bearden, David D; Begtrup, Amber A; Telegrafi, Aida A; Lunsing, Roelineke J RJ; Burglen, Lydie L; Lesca, Gaetan G; Cho, Megan T MT; Smith, Lacey A LA; Sheidley, Beth R BR; Moufawad El Achkar, Christelle C; Pearl, Phillip L PL; Poduri, Annapurna A; Skraban, Cara M CM; Tarpinian, Jennifer J; Nesbitt, Addie I AI; Fransen van de Putte, Dietje E DE; Ruivenkamp, Claudia A L CAL; Rump, Patrick P; Chatron, Nicolas N; Sabatier, Isabelle I; De Bellescize, Julitta J; Guibaud, Laurent L; Sweetser, David A DA; Waxler, Jessica L JL; Wierenga, Klaas J KJ; , ; Donadieu, Jean J; Narayanan, Vinodh V; Ramsey, Keri M KM; , ; Nava, Caroline C; Rivière, Jean-Baptiste JB; Vitobello, Antonio A; Tran Mau-Them, Frédéric F; Philippe, Christophe C; Bruel, Ange-Line AL; Duffourd, Yannis Y; Thomas, Laurel L; Lelieveld, Stefan H SH; Schuurs-Hoeijmakers, Janneke J; Brunner, Han G HG; Keren, Boris B; Thevenon, Julien J; Faivre, Laurence L; Thomas, Gary G; Thauvin-Robinet, Christel C
Publication Date: 2018-05-03
Variant appearance in text: PACS1: 607C>T; Arg203Trp
Allele-specific expression in a family quartet with autism reveals mono-to-biallelic switch and novel transcriptional processes of autism susceptibility genes.
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Nature Communications
Reijnders, M R F MRF; Kousi, M M; van Woerden, G M GM; Klein, M M; Bralten, J J; Mancini, G M S GMS; van Essen, T T; Proietti-Onori, M M; Smeets, E E J EEJ; van Gastel, M M; Stegmann, A P A APA; Stevens, S J C SJC; Lelieveld, S H SH; Gilissen, C C; Pfundt, R R; Tan, P L PL; Kleefstra, T T; Franke, B B; Elgersma, Y Y; Katsanis, N N; Brunner, H G HG