The diagnostic yield of CGH and WES in neurodevelopmental disorders.
Frontiers In Pediatrics
Alotibi, Raniah S RS; Sannan, Naif S NS; AlEissa, Mariam M; Aldriwesh, Marwh G MG; Al Tuwaijri, Abeer A; Akiel, Maaged A MA; Almutairi, Mashael M; Alsamer, Alhanouf A; Altharawi, Nouf N; Aljawfan, Ghadah G; Alotiabi, Badi B; AlBlawi, Mohammed A MA; Alfares, Ahmed A
Publication Date: 2023
Variant appearance in text: PAH: 1139C>T; Thr380Met
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Npj Genomic Medicine
Boonsawat, Paranchai P; Horn, Anselm H C AHC; Steindl, Katharina K; Baumer, Alessandra A; Joset, Pascal P; Kraemer, Dennis D; Bahr, Angela A; Ivanovski, Ivan I; Cabello, Elena M EM; Papik, Michael M; Zweier, Markus M; Oneda, Beatrice B; Sirleto, Pietro P; Burkhardt, Tilo T; Sticht, Heinrich H; Rauch, Anita A
Publication Date: 2022-07-29
Variant appearance in text: PAH: 1139C>T; Thr380Met
Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites.
American Journal Of Human Genetics
Bomba, Lorenzo L; Walter, Klaudia K; Guo, Qi Q; Surendran, Praveen P; Kundu, Kousik K; Nongmaithem, Suraj S; Karim, Mohd Anisul MA; Stewart, Isobel D ID; Langenberg, Claudia C; Danesh, John J; Di Angelantonio, Emanuele E; Roberts, David J DJ; Ouwehand, Willem H WH; , ; Dunham, Ian I; Butterworth, Adam S AS; Soranzo, Nicole N
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Jimd Reports
Martín-Rivada, Álvaro Á; Palomino Pérez, Laura L; Ruiz-Sala, Pedro P; Navarrete, Rosa R; Cambra Conejero, Ana A; Quijada Fraile, Pilar P; Moráis López, Ana A; Belanger-Quintana, Amaya A; Martín-Hernández, Elena E; Bellusci, Marcello M; Cañedo Villaroya, Elvira E; Chumillas Calzada, Silvia S; García Silva, María Teresa MT; Bergua Martínez, Ana A; Stanescu, Sinziana S; Martínez-Pardo Casanova, Mercedes M; Ruano, Miguel L F MLF; Ugarte, Magdalena M; Pérez, Belén B; Pedrón-Giner, Consuelo C
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.
Neurology
Schlüter, Agatha A; Rodríguez-Palmero, Agustí A; Verdura, Edgard E; Vélez-Santamaría, Valentina V; Ruiz, Montserrat M; Fourcade, Stéphane S; Planas-Serra, Laura L; Martínez, Juan José JJ; Guilera, Cristina C; Girós, Marisa M; Artuch, Rafael R; Yoldi, María Eugenia ME; O'Callaghan, Mar M; García-Cazorla, Angels A; Armstrong, Judith J; Marti, Itxaso I; Mondragón Rezola, Elisabet E; Redin, Claire C; Mandel, Jean Louis JL; Conejo, David D; Sierra-Córcoles, Concepción C; Beltrán, Sergi S; Gut, Marta M; Vázquez, Elida E; Del Toro, Mireia M; Troncoso, Mónica M; Pérez-Jurado, Luis A LA; Gutiérrez-Solana, Luis G LG; López de Munain, Adolfo A; Casasnovas, Carlos C; Aguilera-Albesa, Sergio S; Macaya, Alfons A; Pujol, Aurora A; ,
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT
Publication Date: 2020-02-11
Variant appearance in text: PAH: 1139C>T; Thr380Met
Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic.
International Journal Of Molecular Sciences
Zinchenko, Rena A RA; Makaov, Amin Kh AK; Marakhonov, Andrey V AV; Galkina, Varvara A VA; Kadyshev, Vitaly V VV; El'chinova, Galina I GI; Dadali, Elena L EL; Mikhailova, Lyudmila K LK; Petrova, Nika V NV; Petrina, Nina E NE; Vasilyeva, Tatyana A TA; Gundorova, Polina P; Polyakov, Alexander V AV; Alexandrova, Oksana Y OY; Kutsev, Sergey I SI; Ginter, Eugeny K EK
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Molecular Cytogenetics
Koumbaris, George G; Achilleos, Achilleas A; Nicolaou, Michalis M; Loizides, Charalambos C; Tsangaras, Kyriakos K; Kypri, Elena E; Mina, Petros P; Sismani, Carolina C; Velissariou, Voula V; Christopoulou, Georgia G; Constantoulakis, Pantelis P; Manolakos, Emmanouil E; Papoulidis, Ioannis I; Stambouli, Danai D; Ioannides, Marios M; Patsalis, Philippos P
Publication Date: 2019
Variant appearance in text: PAH: 1139C>T; Thr380Met
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: PAH: 1139C>T; Thr380Met; rs62642937
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Sheppard, Sarah S; Biswas, Sawona S; Li, Mindy H MH; Jayaraman, Vijayakumar V; Slack, Ian I; Romasko, Edward J EJ; Sasson, Ariella A; Brunton, Joshua J; Rajagopalan, Ramakrishnan R; Sarmady, Mahdi M; Abrudan, Jenica L JL; Jairam, Sowmya S; DeChene, Elizabeth T ET; Ying, Xiahoan X; Choi, Jiwon J; Wilkens, Alisha A; Raible, Sarah E SE; Scarano, Maria I MI; Santani, Avni A; Pennington, Jeffrey W JW; Luo, Minjie M; Conlin, Laura K LK; Devkota, Batsal B; Dulik, Matthew C MC; Spinner, Nancy B NB; Krantz, Ian D ID
Publication Date: 2018-12
Variant appearance in text: PAH: 1139C>T; Thr380Met
The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients.
Scientific Reports
Zhu, Tianwen T; Ye, Jun J; Han, Lianshu L; Qiu, Wenjuan W; Zhang, Huiwen H; Liang, Lili L; Gu, Xuefan X
Rhee, Eugene P EP; Yang, Qiong Q; Yu, Bing B; Liu, Xuan X; Cheng, Susan S; Deik, Amy A; Pierce, Kerry A KA; Bullock, Kevin K; Ho, Jennifer E JE; Levy, Daniel D; Florez, Jose C JC; Kathiresan, Sek S; Larson, Martin G MG; Vasan, Ramachandran S RS; Clish, Clary B CB; Wang, Thomas J TJ; Boerwinkle, Eric E; O'Donnell, Christopher J CJ; Gerszten, Robert E RE
Publication Date: 2016-07-25
Variant appearance in text: PAH: Thr380Met; rs62642937
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
Orphanet Journal Of Rare Diseases
Jeannesson-Thivisol, Elise E; Feillet, François F; Chéry, Céline C; Perrin, Pascal P; Battaglia-Hsu, Shyue-Fang SF; Herbeth, Bernard B; Cano, Aline A; Barth, Magalie M; Fouilhoux, Alain A; Mention, Karine K; Labarthe, François F; Arnoux, Jean-Baptiste JB; Maillot, François F; Lenaerts, Catherine C; Dumesnil, Cécile C; Wagner, Kathy K; Terral, Daniel D; Broué, Pierre P; de Parscau, Loïc L; Gay, Claire C; Kuster, Alice A; Bédu, Antoine A; Besson, Gérard G; Lamireau, Delphine D; Odent, Sylvie S; Masurel, Alice A; Guéant, Jean-Louis JL; Namour, Fares F
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Nature Genetics
Calvo, Sarah E SE; Tucker, Elena J EJ; Compton, Alison G AG; Kirby, Denise M DM; Crawford, Gabriel G; Burtt, Noel P NP; Rivas, Manuel M; Guiducci, Candace C; Bruno, Damien L DL; Goldberger, Olga A OA; Redman, Michelle C MC; Wiltshire, Esko E; Wilson, Callum J CJ; Altshuler, David D; Gabriel, Stacey B SB; Daly, Mark J MJ; Thorburn, David R DR; Mootha, Vamsi K VK
Publication Date: 2010-10
Variant appearance in text: PAH: 1139C>T; T380M; rs62642937