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271
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Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases
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Jedraszak, Guillaume;
Jobic, Florence;
Receveur, Aline;
Bilan, Fré
dé
ric;
Gilbert‐
Dussardier, Brigitte;
Tiffany, Busa;
Missirian, Chantal;
Willems, Marjolaine;
Odent, Sylvie;
Lucas, Josette;
Dubourg, Christele;
Schaefer, Elise;
Scheidecker, Sophie;
Lespinasse, James;
Goldenberg, Alice;
Guerrot, Anne‐
Marie;
Joly‐
Helas, Gé
raldine;
Chambon, Pascal;
Le Caignec, Cé
dric;
David, Albert;
Coutton, Charles;
Satre, Vé
ronique;
Vieville, Gaë
lle;
Amblard, Florence;
Harbuz, Radu;
Sanlaville, Damien;
Till, Marianne;
Vincent‐
Delorme, Catherine;
Colson, Cindy;
Andrieux, Joris;
Naudion, Sophie;
Toutain, Jé
rome;
Rooryck, Caroline;
de Fré
minville, Bé
né
dicte;
Prieur, Fabienne;
Daire, Valé
rie Cormier;
Amram, Daniel;
Kleinfinger, Pascale;
Raabe‐
Meyer, Gisela;
Courage, Carolina;
Lemke, Johannes;
Stefanou, Eunice G.;
Loretta, Thomaidis;
Emmanouil, Manolakos;
Tz;
Constitutional Genetics Laboratory University Hospital of Amiens Amiens France;
Clinical Genetics Unit University Hospital of Amiens Amiens France;
Constitutional Genetics Laboratory University Hospital of Amiens Amiens France;
Genetics Laboratory University Hospital of Poitiers Poitiers France;
Medical Genetics Unit University Hospital of Poitiers Poitiers France;
Medical Genetics Unit University Hospital of Marseille Marseille France;
Cytogenetics Laboratory University Hospital of Marseille Marseille France;
Medical Genetics Laboratory University Hospital of Montpellier Montpellier France;
Medical Genetics Unit University Hospital of Rennes Rennes France;
Genetics Laboratory University Hospital of Rennes Rennes France;
Molecular & Genomic Institute Rennes France;
Clinical Genetics Unit University Hospital of Strasbourg Strasbourg France;
Medical Genetics Laboratory & INSERM U1112 Strasbourg France;
Clinical Genetics Unit Hospital of Chambé
ry Chambé
ry France;
(American Journal of Medical Genetics. Part A,
v.194,
2024,
pp.e63476)
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272
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The Pharmacogenomics Global Research Network Implementation Working Group: global collaboration to advance pharmacogenetic implementation
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Cavallari, Larisa H.;
Hicks, J. Kevin;
Patel, Jai N.;
Elchynski, Amanda L.;
Smith, D. Max;
Bargal, Salma A.;
Fleck, Ashley;
Aquilante, Christina L.;
Killam, Shayna R.;
Lemke, Lauren;
Ochi, Taichi;
Ramsey, Laura B.;
Haidar, Cyrine E.;
Ho, Teresa;
El Rouby, Nihal;
Monte, Andrew A.;
Allen, Josiah D.;
Beitelshees, Amber L.;
Bishop, Jeffrey R.;
Bousman, Chad;
Campbell, Ronald;
Cicali, Emily J.;
Cook, Kelsey J.;
Duong, Benjamin;
Tsermpini, Evangelia Eirini;
Girdwood, Sonya Tang;
Gregornik, David B.;
Grimsrud, Kristin N.;
Lamb, Nathan;
Lee, James C.;
Lopez, Rocio Ortiz;
Mazhindu, Tinashe Adrian;
Morris, Sarah A.;
Nagy, Mohamed;
Nguyen, Jenny;
Pasternak, Amy L.;
Petry, Natasha;
van Schaik, Ron H.N.;
Schultz, April;
Skaar, Todd C.;
Al Alshaykh, Hana;
Stevenson, James M.;
Stone, Rachael M.;
Tran, Nam K.;
Tuteja, Sony;
Woodahl, Erica L.;
Yuan, Li-Chi;
Lee, Craig R.;
Department of Pharmacotherapy and Translational Research and Center for Pharmacogenomics and Precision Medicine, University of Florida, Gainesville;
Department of Pathology, Moffitt Cancer Center, Tampa, Florida;
Atrium Health Levine Cancer Institute, Charlotte;
Department of Pharmacy, Arkansas Children’s Hospital, Little Rock, Arkansas;
MedStar Health, Columbia, Maryland;
Department of Medicine and Program for Personalized and Genomic Medicine, University of Maryland School of Medicine, Baltimore, Maryland;
Department of Pharmacy, Richard L. Roudebush Veterans Affairs Medical Center, Veteran Health Indiana, Indianapolis, Indiana;
Department of Pharmaceutical Sciences, University of Colorado Skaggs School of Pharmacy and Pharmaceutical Sciences, Aurora, Colorado;
L.S. Skaggs Institute for Health Innovation and Department of Biomedical and Pharmaceutical Sciences, University of Montana, Missoula, Montana;
Lifespan, Providence, Rhode Island, USA;
Department of Pharmacotherapy;
(Pharmacogenetics and genomics,
v.35,
2025,
pp.1-11)
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273
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Volume of subcortical brain regions in social anxiety disorder: mega-analytic results from 37 samples in the ENIGMA-Anxiety Working Group
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Groenewold, Nynke A.;
Bas-Hoogendam, Janna Marie;
Amod, Alyssa R.;
Laansma, Max A.;
Van Velzen, Laura S.;
Aghajani, Moji;
Hilbert, Kevin;
Oh, Hyuntaek;
Salas, Ramiro;
Jackowski, Andrea P.;
Pan, Pedro M.;
Salum, Giovanni A.;
Blair, James R.;
Blair, Karina S.;
Hirsch, Joy;
Pantazatos, Spiro P.;
Schneier, Franklin R.;
Talati, Ardesheer;
Roelofs, Karin;
Volman, Inge;
Blanco-Hinojo, Laura;
Cardoner, Narcí
s;
Pujol, Jesus;
Beesdo-Baum, Katja;
Ching, Christopher R. K.;
Thomopoulos, Sophia I.;
Jansen, Andreas;
Kircher, Tilo;
Krug, Axel;
Nenadić
, Igor;
Stein, Frederike;
Dannlowski, Udo;
Grotegerd, Dominik;
Lemke, Hannah;
Meinert, Susanne;
Winter, Alexandra;
Erb, Michael;
Kreifelts, Benjamin;
Gong, Qiyong;
Lui, Su;
Zhu, Fei;
Mwangi, Benson;
Soares, Jair C.;
Wu, Mon-Ju;
Bayram, Ali;
Canli, Mesut;
Tü
kel, Raş
it;
Westenberg, P. Michiel;
Heeren, Alexandre;
Cremers, Henk R.;
Hofmann, David;
Straube, Thomas;
Doruyter, Alexander;
;
(Molecular psychiatry,
v.28,
2023,
pp.1079-1089)
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274
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Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size
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Le Duc, Diana;
Giulivi, Cecilia;
Hiatt, Susan M;
Napoli, Eleonora;
Panoutsopoulos, Alexios;
Harlan De Crescenzo, Angelo;
Kotzaeridou, Urania;
Syrbe, Steffen;
Anagnostou, Evdokia;
Azage, Meron;
Bend, Renee;
Begtrup, Amber;
Brown, Natasha J;
Bü
ttner, Benjamin;
Cho, Megan T;
Cooper, Gregory M;
Doering, Jan H;
Dubourg, Christè
le;
Everman, David B;
Hildebrand, Michael S;
Santos, Francis Jeshira Reynoso;
Kellam, Barbara;
Keller-Ramey, Jennifer;
Lemke, Johannes R;
Liu, Shuxi;
Niyazov, Dmitriy;
Payne, Katelyn;
Person, Richard;
Qué
lin, Chloé
;
Schnur, Rhonda E;
Smith, Brooke T;
Strober, Jonathan;
Walker, Susan;
Wallis, Mathew;
Walsh, Laurence;
Yang, Sandra;
Yuen, Ryan K C;
Ziegler, Andreas;
Sticht, Heinrich;
Pride, Michael C;
Orosco, Lori;
Martí
nez-Cerdeñ
o, Veró
nica;
Silverman, Jill L;
Crawley, Jacqueline N;
Scherer, Stephen W;
Zarbalis, Konstantinos S;
Jamra, Rami;
Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany;
Department of Molecular Biosciences, School of Veterinary Medicine, University of California Davis, Davis, CA, USA;
HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, USA;
Department of Molecular Biosciences, School of Veterinary Medicine, University of California Davis, Davis, CA, USA;
Department of Pathology and Laboratory Medicine, University of California at Davis, Sacramento, CA, USA;
Department of Pathology and Laboratory Medicine, University of California at Davis, Sacramento, CA, USA;
Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, Heidelberg, Germany;
Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, Heidelberg, Germany;
Bloorview Rese;
(Brain : a journal of neurology,
v.142,
2019,
pp.2617-2630)
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275
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The Mid-Infrared Instrument for the<i>James Webb Space Telescope</i>, II: Design and Build
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Wright, G. S.;
Wright, David;
Goodson, G. B.;
Rieke, G. H.;
Aitink-Kroes, Gabby;
Amiaux, J.;
Aricha-Yanguas, Ana;
Azzollini, Ruymá
n;
Banks, Kimberly;
Barrado-Navascues, D.;
Belenguer-Davila, T.;
Bloemmart, J. A. D. L.;
Bouchet, Patrice;
Brandl, B. R.;
Colina, L.;
Detre, Ö
rs;
Diaz-Catala, Eva;
Eccleston, Paul;
Friedman, Scott D.;
Garcí
a-Marí
n, Macarena;
Gü
del, Manuel;
Glasse, Alistair;
Glauser, Adrian M.;
Greene, T. P.;
Groezinger, Uli;
Grundy, Tim;
Hastings, Peter;
Henning, Th.;
Hofferbert, Ralph;
Hunter, Faye;
Jessen, N. C.;
Justtanont, K.;
Karnik, Avinash R.;
Khorrami, Mori A.;
Krause, Oliver;
Labiano, Alvaro;
Lagage, P.-O.;
Langer, Ulrich;
Lemke, Dietrich;
Lim, Tanya;
Lorenzo-Alvarez, Jose;
Mazy, Emmanuel;
McGowan, Norman;
Meixner, M. E.;
Morris, Nigel;
Morrison, Jane E.;
Mü
ller, Friedrich;
Nø rgaard-Nielson, H.-U.;
Olofsson, Gö
ran;
O’Sullivan, Brian;
Pel, J.-W.;
Penanen, Konstantin;
Pet;
;
(Publications of the Astronomical Society of the Pacific,
v.127,
2015,
pp.595-611)
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276
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4MOST: the 4-metre multi-object spectroscopic telescope project in the assembly, integration, and test phase
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de Jong, Roelof;
Bellido-Tirado, Olga;
Brynnel, Joar .;
Ezzati Amini, Aida;
Frey, Steffen;
Fü
ßlein, Christine;
Gä
bler, Miklos;
Giannone, Domenico;
Johl, Diana;
Kuba, Silke;
Lemke, Ulrike;
Micheva, Genoveva;
Saviauk, Allar;
Steinmetz, Matthias;
Walcher, Jakob C.;
Winkler, Roland;
Lind, Karin;
Loveday, Jonathan;
Feltzing, Sofia;
McMahon, Richard;
Mainieri, Vincenzo;
Pirard, Jean-Franç
ois;
Bensby, Thomas;
Bergemann, Maria;
Chiappini, Cristina;
Christlieb, Norbert;
Cioni, Maria-Rosa;
Comparat, Johan;
Driver, Simon;
Hook, Isobel;
Irwin, Mike;
Kneib, Jean-Paul;
Liske, Jochen;
Merloni, Andrea;
Minchev, Ivan;
Richard, Johan;
Starkenburg, Else;
Sullivan, Mark;
Worley, Clare;
Gaessler, Wolfgang;
Laurent, Florance;
Pragt, Johan;
Remillieux, Alban;
Rothmaier, Florian;
Smedley, Scott;
Stilz, Ingo;
Walton, Nicholas;
Alexander, David M.;
Church, Ross;
Croom, Scott;
Davies, Luke J.;
Heneka, Caroline;
Kacharov, Nikolay;
Knoche, J&o;
;
(Ground-based and Airborne Instrumentation for Astronomy IX,
v.2021,
2021,
pp.40)
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277
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De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures
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Horn, Susanne;
Au, Margaret;
Basel-Salmon, Lina;
Bayrak-Toydemir, Pinar;
Chapin, Alexander;
Cohen, Lior;
Elting, Mariet W;
Graham Jr, John M;
Gonzaga-Jauregui, Claudia;
Konen, Osnat;
Holzer, Max;
Lemke, Johannes;
Miller, Christine E;
Rey, Linda K;
Wolf, Nicole I;
Weiss, Marjan M;
Waisfisz, Quinten;
Mirzaa, Ghayda M;
Wieczorek, Dagmar;
Sticht, Heinrich;
Abou Jamra, Rami;
Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany;
Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California, USA;
Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel;
Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA;
ARUP Laboratories, Salt Lake City, UT, USA;
ARUP Laboratories, Salt Lake City, UT, USA;
Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel;
Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Clinical Genetics, De Boelelaan 1117, Amsterdam, The Netherlands;
Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California, USA;
Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY, USA;
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel;
Departmen;
(Brain : a journal of neurology,
v.142,
2019,
pp.3351-3359)