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
Novel homozygous variant in the TPO gene associated with congenital hypothyroidism and mild-intellectual disability.
Human Genome Variation
Khan, Amjad A; Umair, Muhammad M; Sharaf, Rania Abdulfattah RA; Khan, Muhammad Ismail MI; Ullah, Amir A; Abbas, Safdar S; Shaheen, Nargis N; Bilal, Muhammad M; Ahamd, Farooq F
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
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
American Journal Of Human Genetics
Paine, Ingrid I; Posey, Jennifer E JE; Grochowski, Christopher M CM; Jhangiani, Shalini N SN; Rosenheck, Sarah S; Kleyner, Robert R; Marmorale, Taylor T; Yoon, Margaret M; Wang, Kai K; Robison, Reid R; Cappuccio, Gerarda G; Pinelli, Michele M; Magli, Adriano A; Coban Akdemir, Zeynep Z; Hui, Joannie J; Yeung, Wai Lan WL; Wong, Bibiana K Y BKY; Ortega, Lucia L; Bekheirnia, Mir Reza MR; Bierhals, Tatjana T; Hempel, Maja M; Johannsen, Jessika J; Santer, René R; Aktas, Dilek D; Alikasifoglu, Mehmet M; Bozdogan, Sevcan S; Aydin, Hatip H; Karaca, Ender E; Bayram, Yavuz Y; Ityel, Hadas H; Dorschner, Michael M; White, Janson J JJ; Wilichowski, Ekkehard E; Wortmann, Saskia B SB; Casella, Erasmo B EB; Kitajima, Joao Paulo JP; Kok, Fernando F; Monteiro, Fabiola F; Muzny, Donna M DM; Bamshad, Michael M; Gibbs, Richard A RA; Sutton, V Reid VR; , ; Van Esch, Hilde H; Brunetti-Pierri, Nicola N; Hildebrandt, Friedhelm F; Brautbar, Ariel A; Van den Veyver, Ignatia B IB; Glass, Ian I; Lessel, Davor D; Lyon, Gholson J GJ; Lupski, James R JR
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: TPO: R540X; rs121908082
A Homozygous Nonsense Thyroid Peroxidase Mutation (R540X) Consistently Causes Congenital Hypothyroidism in Two Siblings Born to a Consanguineous Family.
Journal Of Clinical Research In Pediatric Endocrinology
The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation.
The Journal Of Clinical Endocrinology And Metabolism
Sriphrapradang, Chutintorn C; Tenenbaum-Rakover, Yardena Y; Weiss, Mia M; Barkoff, Marla S MS; Admoni, Osnat O; Kawthar, Dallasheh D; Caltabiano, Gianluigi G; Pardo, Leonardo L; Dumitrescu, Alexandra M AM; Refetoff, Samuel S