Suleiman, Jehan;Riedhammer, Korbinian M;Jicinsky, Timothy;Mundt, Melinda;Werner, Laurie;Gusic, Mirjana;Burgemeister, Anna L;Alsaif, Hessa S;Abdulrahim, Maha;Moghrabi, Nabil N;Nicolas-Jilwan, Manal;AlSayed, Moeenaldeen;Bi, Weimin;Sampath, Srirangan;Alkuraya, Fowzan S;El-Hattab, Ayman W
Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.
Hum Mutat
2019
40
11
1985-1992

Zweier, Markus;Begemann, Anaïs;McWalter, Kirsty;Cho, Megan T;Abela, Lucia;Banka, Siddharth;Behring, Bettina;Berger, Andrea;Brown, Chester W;Carneiro, Maryline;Chen, Jiani;Cooper, Gregory M;Finnila, Candice R;Guillen Sacoto, Maria J;Henderson, Alex;Hüffmeier, Ulrike;Joset, Pascal;Kerr, Bronwyn;Lesca, Gaetan;Leszinski, Gloria S;McDermott, John Henry;Meltzer, Meira R;Monaghan, Kristin G;Mostafavi, Roya;Ounap, Katrin;Plecko, Barbara;Powis, Zöe;Purcarin, Gabriela;Reimand, Tiia;Riedhammer, Korbinian M;Schreiber, John M;Sirsi, Deepa;Wierenga, Klaas J;Wojcik, Monica H;Papuc, Sorina M;Steindl, Katharina;Sticht, Heinrich;Rauch, Anita
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.
Eur J Hum Genet
2019
27
5
747-759

Götzl, Julia K;Brendel, Matthias;Werner, Georg;Parhizkar, Samira;Sebastian Monasor, Laura;Kleinberger, Gernot;Colombo, Alessio-Vittorio;Deussing, Maximilian;Wagner, Matias;Winkelmann, Juliane;Diehl-Schmid, Janine;Levin, Johannes;Fellerer, Katrin;Reifschneider, Anika;Bultmann, Sebastian;Bartenstein, Peter;Rominger, Axel;Tahirovic, Sabina;Smith, Scott T;Madore, Charlotte;Butovsky, Oleg;Capell, Anja;Haass, Christian
Opposite microglial activation stages upon loss of PGRN or TREM2 result in reduced cerebral glucose metabolism.
EMBO Mol Med
2019
11
6

Murakami, Masanori;Rhayem, Yara;Kunzke, Thomas;Sun, Na;Feuchtinger, Annette;Ludwig, Philippe;Strom, Tim Matthias;Gomez-Sanchez, Celso;Knösel, Thomas;Kirchner, Thomas;Williams, Tracy Ann;Reincke, Martin;Walch, Axel Karl;Beuschlein, Felix
In situ metabolomics of aldosterone-producing adenomas.
JCI Insight
2019
4
17

Zech, Michael;Lam, Daniel D;Winkelmann, Juliane
Update on KMT2B-Related Dystonia.
Curr Neurol Neurosci Rep
2019
19
11

Bentley, Amy R;Sung, Yun J;Brown, Michael R;Winkler, Thomas W;Kraja, Aldi T;Ntalla, Ioanna;Schwander, Karen;Chasman, Daniel I;Lim, Elise;Deng, Xuan;Guo, Xiuqing;Liu, Jingmin;Lu, Yingchang;Cheng, Ching-Yu;Sim, Xueling;Vojinovic, Dina;Huffman, Jennifer E;Musani, Solomon K;Li, Changwei;Feitosa, Mary F;Richard, Melissa A;Noordam, Raymond;Baker, Jenna;Chen, Guanjie;Aschard, Hugues;Bartz, Traci M;Ding, Jingzhong;Dorajoo, Rajkumar;Manning, Alisa K;Rankinen, Tuomo;Smith, Albert V;Tajuddin, Salman M;Zhao, Wei;Graff, Mariaelisa;Alver, Maris;Boissel, Mathilde;Chai, Jin Fang;Chen, Xu;Divers, Jasmin;Evangelou, Evangelos;Gao, Chuan;Goel, Anuj;Hagemeijer, Yanick;Harris, Sarah E;Hartwig, Fernando P;He, Meian;Horimoto, Andrea R V R;Hsu, Fang-Chi;Hung, Yi-Jen;Jackson, Anne U;Kasturiratne, Anuradhani;Komulainen, Pirjo;Kühnel, Brigitte;Leander, Karin;Lin, Keng-Hung;Luan, Jian'an;Lyytikäinen, Leo-Pekka;Matoba, Nana;Nolte, Ilja M;Pietzner, Maik;Prins, Bram;Riaz, Muhammad;Robino, Antonietta;Said, M Abdullah;Schupf, Nicole;Scott, Robert A;Sofer, Tamar;Stančáková, Alena;Takeuchi, Fumihiko;Tayo, Bamidele O;van der Most, Peter J;Varga, Tibor V;Wang, Tzung-Dau;Wang, Yajuan;Ware, Erin B;Wen, Wanqing;Xiang, Yong-Bing;Yanek, Lisa R;Zhang, Weihua;Zhao, Jing Hua;Adeyemo, Adebowale;Afaq, Saima;Amin, Najaf;Amini, Marzyeh;Arking, Dan E;Arzumanyan, Zorayr;Aung, Tin;Ballantyne, Christie;Barr, R Graham;Bielak, Lawrence F;Boerwinkle, Eric;Bottinger, Erwin P;Broeckel, Ulrich;Brown, Morris;Cade, Brian E;Campbell, Archie;Canouil, Mickaël;Charumathi, Sabanayagam;Chen, Yii-Der Ida;Christensen, Kaare;Concas, Maria Pina;Connell, John M;de Las Fuentes, Lisa;de Silva, H Janaka;de Vries, Paul S;Doumatey, Ayo;Duan, Qing;Eaton, Charles B;Eppinga, Ruben N;Faul, Jessica D;Floyd, James S;Forouhi, Nita G;Forrester, Terrence;Friedlander, Yechiel;Gandin, Ilaria;Gao, He;Ghanbari, Mohsen;Gharib, Sina A;Gigante, Bruna;Giulianini, Franco;Grabe, Hans J;Gu, C Charles;Harris, Tamara B;Heikkinen, Sami;Heng, Chew-Kiat;Hirata, Makoto;Hixson, James E;Ikram, M Arfan;Jia, Yucheng;Joehanes, Roby;Johnson, Craig;Jonas, Jost Bruno;Justice, Anne E;Katsuya, Tomohiro;Khor, Chiea Chuen;Kilpeläinen, Tuomas O;Koh, Woon-Puay;Kolcic, Ivana;Kooperberg, Charles;Krieger, Jose E;Kritchevsky, Stephen B;Kubo, Michiaki;Kuusisto, Johanna;Lakka, Timo A;Langefeld, Carl D;Langenberg, Claudia;Launer, Lenore J;Lehne, Benjamin;Lewis, Cora E;Li, Yize;Liang, Jingjing;Lin, Shiow;Liu, Ching-Ti;Liu, Jianjun;Liu, Kiang;Loh, Marie;Lohman, Kurt K;Louie, Tin;Luzzi, Anna;Mägi, Reedik;Mahajan, Anubha;Manichaikul, Ani W;McKenzie, Colin A;Meitinger, Thomas;Metspalu, Andres;Milaneschi, Yuri;Milani, Lili;Mohlke, Karen L;Momozawa, Yukihide;Morris, Andrew P;Murray, Alison D;Nalls, Mike A;Nauck, Matthias;Nelson, Christopher P;North, Kari E;O'Connell, Jeffrey R;Palmer, Nicholette D;Papanicolau, George J;Pedersen, Nancy L;Peters, Annette;Peyser, Patricia A;Polasek, Ozren;Poulter, Neil;Raitakari, Olli T;Reiner, Alex P;Renström, Frida;Rice, Treva K;Rich, Stephen S;Robinson, Jennifer G;Rose, Lynda M;Rosendaal, Frits R;Rudan, Igor;Schmidt, Carsten O;Schreiner, Pamela J;Scott, William R;Sever, Peter;Shi, Yuan;Sidney, Stephen;Sims, Mario;Smith, Jennifer A;Snieder, Harold;Starr, John M;Strauch, Konstantin;Stringham, Heather M;Tan, Nicholas Y Q;Tang, Hua;Taylor, Kent D;Teo, Yik Ying;Tham, Yih Chung;Tiemeier, Henning;Turner, Stephen T;Uitterlinden, Andre G;van Heemst, Diana;Waldenberger, Melanie;Wang, Heming;Wang, Lan;Wang, Lihua;Wei, Wen Bin;Williams, Christine A;Wilson, Gregory;Wojczynski, Mary K;Yao, Jie;Young, Kristin;Yu, Caizheng;Yuan, Jian-Min;Zhou, Jie;Zonderman, Alan B;Becker, Diane M;Boehnke, Michael;Bowden, Donald W;Chambers, John C;Cooper, Richard S;de Faire, Ulf;Deary, Ian J;Elliott, Paul;Esko, Tõnu;Farrall, Martin;Franks, Paul W;Freedman, Barry I;Froguel, Philippe;Gasparini, Paolo;Gieger, Christian;Horta, Bernardo L;Juang, Jyh-Ming Jimmy;Kamatani, Yoichiro;Kammerer, Candace M;Kato, Norihiro;Kooner, Jaspal S;Laakso, Markku;Laurie, Cathy C;Lee, I-Te;Lehtimäki, Terho;Magnusson, Patrik K E;Oldehinkel, Albertine J;Penninx, Brenda W J H;Pereira, Alexandre C;Rauramaa, Rainer;Redline, Susan;Samani, Nilesh J;Scott, James;Shu, Xiao-Ou;van der Harst, Pim;Wagenknecht, Lynne E;Wang, Jun-Sing;Wang, Ya Xing;Wareham, Nicholas J;Watkins, Hugh;Weir, David R;Wickremasinghe, Ananda R;Wu, Tangchun;Zeggini, Eleftheria;Zheng, Wei;Bouchard, Claude;Evans, Michele K;Gudnason, Vilmundur;Kardia, Sharon L R;Liu, Yongmei;Psaty, Bruce M;Ridker, Paul M;van Dam, Rob M;Mook-Kanamori, Dennis O;Fornage, Myriam;Province, Michael A;Kelly, Tanika N;Fox, Ervin R;Hayward, Caroline;van Duijn, Cornelia M;Tai, E Shyong;Wong, Tien Yin;Loos, Ruth J F;Franceschini, Nora;Rotter, Jerome I;Zhu, Xiaofeng;Bierut, Laura J;Gauderman, W James;Rice, Kenneth;Munroe, Patricia B;Morrison, Alanna C;Rao, Dabeeru C;Rotimi, Charles N;Cupples, L Adrienne
Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.
Nat Genet
2019
51
4
636-648

Feichtinger, René G;Mucha, Bettina E;Hengel, Holger;Orfi, Zakaria;Makowski, Christine;Dort, Junio;D'Anjou, Guy;Nguyen, Thi Tuyet Mai;Buchert, Rebecca;Juenger, Hendrik;Freisinger, Peter;Baumeister, Sarah;Schoser, Benedikt;Ahting, Uwe;Keimer, Reinhard;Nguyen, Cam-Tu Emilie;Fabre, Paul;Gauthier, Julie;Miguet, Marguerite;Lopes, Fátima;AlHakeem, Afnan;Alhashem, Amal;Tabarki, Brahim;Kandaswamy, Krishna Kumar;Bauer, Peter;Steinbacher, Peter;Prokisch, Holger;Sturm, Marc;Strom, Tim M;Ellezam, Benjamin;Mayr, Johannes A;Schöls, Ludger;Michaud, Jacques L;Campeau, Philippe M;Haack, Tobias B;Dumont, Nicolas A
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.
Genet Med
2019
21
11
2521-2531

Noordam, Raymond;Bos, Maxime M;Wang, Heming;Winkler, Thomas W;Bentley, Amy R;Kilpeläinen, Tuomas O;de Vries, Paul S;Sung, Yun Ju;Schwander, Karen;Cade, Brian E;Manning, Alisa;Aschard, Hugues;Brown, Michael R;Chen, Han;Franceschini, Nora;Musani, Solomon K;Richard, Melissa;Vojinovic, Dina;Aslibekyan, Stella;Bartz, Traci M;de Las Fuentes, Lisa;Feitosa, Mary;Horimoto, Andrea R;Ilkov, Marjan;Kho, Minjung;Kraja, Aldi;Li, Changwei;Lim, Elise;Liu, Yongmei;Mook-Kanamori, Dennis O;Rankinen, Tuomo;Tajuddin, Salman M;van der Spek, Ashley;Wang, Zhe;Marten, Jonathan;Laville, Vincent;Alver, Maris;Evangelou, Evangelos;Graff, Maria E;He, Meian;Kühnel, Brigitte;Lyytikäinen, Leo-Pekka;Marques-Vidal, Pedro;Nolte, Ilja M;Palmer, Nicholette D;Rauramaa, Rainer;Shu, Xiao-Ou;Snieder, Harold;Weiss, Stefan;Wen, Wanqing;Yanek, Lisa R;Adolfo, Correa;Ballantyne, Christie;Bielak, Larry;Biermasz, Nienke R;Boerwinkle, Eric;Dimou, Niki;Eiriksdottir, Gudny;Gao, Chuan;Gharib, Sina A;Gottlieb, Daniel J;Haba-Rubio, José;Harris, Tamara B;Heikkinen, Sami;Heinzer, Raphael;Hixson, James E;Homuth, Georg;Ikram, M Arfan;Komulainen, Pirjo;Krieger, Jose E;Lee, Jiwon;Liu, Jingmin;Lohman, Kurt K;Luik, Annemarie I;Mägi, Reedik;Martin, Lisa W;Meitinger, Thomas;Metspalu, Andres;Milaneschi, Yuri;Nalls, Mike A;O'Connell, Jeff;Peters, Annette;Peyser, Patricia;Raitakari, Olli T;Reiner, Alex P;Rensen, Patrick C N;Rice, Treva K;Rich, Stephen S;Roenneberg, Till;Rotter, Jerome I;Schreiner, Pamela J;Shikany, James;Sidney, Stephen S;Sims, Mario;Sitlani, Colleen M;Sofer, Tamar;Strauch, Konstantin;Swertz, Morris A;Taylor, Kent D;Uitterlinden, Andre G;van Duijn, Cornelia M;Völzke, Henry;Waldenberger, Melanie;Wallance, Robert B;van Dijk, Ko Willems;Yu, Caizheng;Zonderman, Alan B;Becker, Diane M;Elliott, Paul;Esko, Tõnu;Gieger, Christian;Grabe, Hans J;Lakka, Timo A;Lehtimäki, Terho;North, Kari E;Penninx, Brenda W J H;Vollenweider, Peter;Wagenknecht, Lynne E;Wu, Tangchun;Xiang, Yong-Bing;Zheng, Wei;Arnett, Donna K;Bouchard, Claude;Evans, Michele K;Gudnason, Vilmundur;Kardia, Sharon;Kelly, Tanika N;Kritchevsky, Stephen B;Loos, Ruth J F;Pereira, Alexandre C;Province, Mike;Psaty, Bruce M;Rotimi, Charles;Zhu, Xiaofeng;Amin, Najaf;Cupples, L Adrienne;Fornage, Myriam;Fox, Ervin F;Guo, Xiuqing;Gauderman, W James;Rice, Kenneth;Kooperberg, Charles;Munroe, Patricia B;Liu, Ching-Ti;Morrison, Alanna C;Rao, Dabeeru C;van Heemst, Diana;Redline, Susan
Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration.
Nat Commun
2019
10
1

Fountain, Michael D.;Oleson, David S.;Rech, Megan E.;Segebrecht, Lara;Hunter, Jill;McCarthy, John M.;Lupo, Philip J.;Holtgrewe, Manuel;Moran, Rocio;Rosenfeld, Jill A.;Isidor, Bertrand;Le Caignec, Cedric;Saenz, Margarita S.;Pedersen, Robert C.;Morgan, Thomas M.;Pfotenhauer, Jean P.;Xia, Fan;Bi, Weimin;Kang, Sung-Hae L.;Patel, Ankita;Krantz, Ian D.;Raible, Sarah E.;Smith, Wendy;Cristian, Ingrid;Torti, Erin;Juusola, Jane;Milian, Francisca;Wentzensen, Ingrid M.;Person, Richard E.;Kury, Sebastien;Bezieau, Stephane;Uguen, Kevin;Ferec, Claude;Munnich, Arnold;van Haelst, Mieke;Lichtenbelt, Klaske D.;van Gassen, Koen;Hagelstrom, Tanner;Chawla, Aditi;Perry, Denise L.;Taft, Ryan J.;Jones, Marilyn;Masser-Frye, Diane;Dyment, David;Venkateswaran, Sunita;Li, Chumei;Escobar, Luis F.;Horn, Denise;Spillmann, Rebecca C.;Pena, Loren;Wierzba, Jolanta;Strom, Tim M.;Parenti, Ilaria;Kaiser, Frank J.;Ehmke, Nadja;Schaaf, Christian P.
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
Genet Med
2019
21
8
1797-1807

Beygo, Jasmin;Buerger, Joachim;Strom, Tim M.;Kaya, Sabine;Buiting, Karin
Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment
Eur J Hum Genet
2019
27
6
903-908