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A

Antonicka, Hana and Weraarpachai, Woranontee and Szigety, Katherine M. and Kopajtich, Robert and Gibson, James B. and Hove, Johan L. K. Van and Friederich, Marisa W. and Lopriore, Piervito and Neuhofer, Christiane and Hove, Roxanne A. Van and Cole, Michel A. and Reisdorph, Richard and Peterson, James T. and Dempsey, Katherine J. and Ganetzky, Rebecca D. and Mancuso, Michelangelo and Prokisch, Holger and Shoubridge, Eric A. (2025) Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early-to late-onset Leigh syndrome. AMERICAN JOURNAL OF HUMAN GENETICS, 112 (7). pp. 1699-1710. ISSN 0002-9297, 1537-6605

B

Basmanav, F. Buket and Oprisoreanu, Ana-Maria and Pasternack, Sandra M. and Thiele, Holger and Fritz, Guenter and Wenzel, Joerg and Groesser, Leopold and Wehner, Maria and Wolf, Sabrina and Fagerberg, Christina and Bygum, Anette and Altmueller, Janine and Ruetten, Arno and Parmentier, Laurent and El Shabrawi-Caelen, Laila and Hafner, Christian and Nuernberg, Peter and Kruse, Roland and Schoch, Susanne and Hanneken, Sandra and Betz, Regina C. (2014) Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease. AMERICAN JOURNAL OF HUMAN GENETICS, 94 (1). pp. 135-143. ISSN 0002-9297, 1537-6605

Bohring, Axel and Stamm, Thomas and Spaich, Christiane and Haase, Claudia and Spree, Kerstin and Hehr, Ute and Hoffmann, Mandy and Ledig, Susanne and Sel, Saadettin and Wieacker, Peter and Roepke, Albrecht (2009) WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes. AMERICAN JOURNAL OF HUMAN GENETICS, 85 (1). pp. 97-105. ISSN 0002-9297

D

Decker, Eva and Stellzig-Eisenhauer, Angelika and Fiebig, Britta S. and Rau, Christiane and Kress, Wolfram and Saar, Kathrin and Rueschendorf, Franz and Hubner, Norbert and Grimm, Tiemo and Weber, Bernhard H. F. (2008) PTHR1 Loss-of-Function Mutations in Familial, Nonsyndromic Primary Failure of Tooth Eruption. AMERICAN JOURNAL OF HUMAN GENETICS, 83 (6). pp. 781-786. ISSN 0002-9297, 1537-6605

H

Heller, A. and Starke, H. and Loncarevic, I. F. and Senger, G. and Chudoba, I. and Claussen, U. and Liehr, T. (1999) Molecular cytogenetic characterization of a highly aberrant plasmocytoma case with 24-color FISH, CGH, multicolor banding (MCB) and region specific FISH probes. AMERICAN JOURNAL OF HUMAN GENETICS, 65 (4suppl). A130. ISSN 0002-9297, 1537-6605

J

Janssen, Andreas and Min, Seok H. and Molday, Laurie L. and Tanimoto, Naoyuki and Seeliger, Mathias W. and Hauswirth, William W. and Molday, Robert S. and Weber, Bernhard H. F. (2008) Effect of late-stage therapy on disease progression in AAV-mediated rescue of photoreceptor cells in the retinoschisin-deficient mouse. MOLECULAR THERAPY, 16 (6). pp. 1010-1017. ISSN 1525-0016, 1525-0024

L

Langmann, Thomas and Di Gioia, Silvio Alessandro and Rau, Isabella and Stoehr, Heidi and Maksimovic, Nela S. and Corbo, Joseph C. and Renner, Agnes B. and Zrenner, Eberhart and Kumaramanickavel, Govindasamy and Karlstetter, Marcus and Arsenijevic, Yvan and Weber, Bernhard H. F. and Gal, Andreas and Rivolta, Carlo (2010) Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa. AMERICAN JOURNAL OF HUMAN GENETICS, 87 (3). pp. 376-381. ISSN 0002-9297, 1537-6605

Lessel, Ivana and Baresic, Anja and Chinn, Ivan K. and May, Jonathan and Goenka, Anu and Chandler, Kate E. and Posey, Jennifer E. and Afenjar, Alexandra and Averdunk, Luisa and Bedeschi, Maria Francesca and Besnard, Thomas and Brager, Rae and Brick, Lauren and Brugger, Melanie and Brunet, Theresa and Byrne, Susan and de la Calle-Martin, Oscar and Capra, Valeria and Cardenas, Paul and Chappe, Celine and Chong, Hey J. and Cogne, Benjamin and Conboy, Erin and Cope, Heidi and Courtin, Thomas and Deb, Wallid and Dilena, Robertino and Dubourg, Christele and Elgizouli, Magdeldin and Fernandes, Erica and Fitzgerald, Kristi K. and Gangi, Silvana and George-Abraham, Jaya K. and Gucsavas-Calikoglu, Muge and Haack, Tobias B. and Hadonou, Medard and Hanker, Britta and Huning, Irina and Iascone, Maria and Isidor, Bertrand and Jarvela, Irma and Jin, Jay J. and Jorge, Alexander A. L. and Josifova, Dragana and Kalinauskiene, Ruta and Kamsteeg, Erik-Jan and Keren, Boris and Kessler, Elena and Koelbel, Heike and Kozenko, Mariya and Kubisch, Christian and Kuechler, Alma and Leal, Suzanne M. and Leppala, Juha and Luu, Sharon M. and Lyon, Gholson J. and Madan-Khetarpal, Suneeta and Mancardi, Margherita and Marchi, Elaine and Mehta, Lakshmi and Menendez, Beatriz and Morel, Chantal F. and Harasink, Sue Moyer and Nevay, Dayna-Lynn and Nigro, Vincenzo and Odent, Sylvie and Oegema, Renske and Pappas, John and Pastore, Matthew T. and Perilla-Young, Yezmin and Platzer, Konrad and Powell-Hamilton, Nina and Rabin, Rachel and Rekab, Aisha and Rezende, Raissa C. and Robert, Leema and Romano, Ferruccio and Scala, Marcello and Poths, Karin and Schrauwen, Isabelle and Sebastian, Jessica and Short, John and Sidlow, Richard and Sullivan, Jennifer and Szakszon, Katalin and Tan, Queenie K. G. and Wagner, Matias and Wieczorek, Dagmar and Yuan, Bo and Maeding, Nicole and Strunk, Dirk and Begtrup, Amber and Banka, Siddharth and Lupski, James R. and Tolosa, Eva and Lessel, Davor (2025) DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders. AMERICAN JOURNAL OF HUMAN GENETICS, 112 (2). pp. 394-413. ISSN 0002-9297, 1537-6605

Liehr, T. and Heller, A. and Starke, H. and Lemke, J. and Wirth, J. and Senger, G. and Chudoba, I. and Rocchi, M. and Claussen, U. (1999) Multicolor banding (MCB) of human chromosomes 1, 5 and 13 based on region specific YAC clones and microdissection libraries. AMERICAN JOURNAL OF HUMAN GENETICS, 65 (4suppl). A9. ISSN 0002-9297, 1537-6605

Lines, Matthew A. and Huang, Lijia and Schwartzentruber, Jeremy and Douglas, Stuart L. and Lynch, Danielle C. and Beaulieu, Chandree and Guion-Almeida, Maria Leine and Zechi-Ceide, Roseli Maria and Gener, Blanca and Gillessen-Kaesbach, Gabriele and Nava, Caroline and Baujat, Genevieve and Horn, Denise and Kini, Usha and Caliebe, Almuth and Alanay, Yasemin and Utine, Gulen Eda and Lev, Dorit and Kohlhase, Jurgen and Grix, Arthur W. and Lohmann, Dietmar R. and Hehr, Ute and Boehm, Detlef and Majewski, Jacek and Bulman, Dennis E. and Wieczorek, Dagmar and Boycott, Kym M. (2012) Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly. AMERICAN JOURNAL OF HUMAN GENETICS, 90 (2). pp. 369-377. ISSN 0002-9297, 1537-6605

M

Michalk, Anne and Stricker, Sigmar and Becker, Jutta and Rupps, Rosemarie and Pantzar, Tapio and Miertus, Jan and Botta, Giovanni and Naretto, Valeria G. and Janetzki, Catrin and Yaqoob, Nausheen and Ott, Claus-Eric and Seelow, Dominik and Wieczorek, Dagmar and Fiebig, Britta and Wirth, Brunhilde and Hoopmann, Markus and Walther, Marisa and Koerber, Friederike and Blankenburg, Markus and Mundlos, Stefan and Heller, Raoul and Hoffmann, Katrin (2008) Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. AMERICAN JOURNAL OF HUMAN GENETICS, 82 (2). pp. 464-476. ISSN 0002-9297, 1537-6605

P

Pasutto, Francesca and Matsumoto, Tomoya and Mardin, Christian Y. and Sticht, Heinrich and Brandstaetter, Johann H. and Michels-Rautenstrauss, Karin and Weisschuh, Nicole and Gramer, Eugen and Ramdas, Wishal D. and van Koolwijk, Leonieke M. E. and Klaver, Caroline C. W. and Vingerling, Johannes R. and Weber, Bernhard H. F. and Kruse, Friedrich E. and Rautenstrauss, Bernd and Barde, Yves-Alain and Reis, Andre (2009) Heterozygous NTF4 Mutations Impairing Neurotrophin-4 Signaling in Patients with Primary Open-Angle Glaucoma. AMERICAN JOURNAL OF HUMAN GENETICS, 85 (4). pp. 447-456. ISSN 0002-9297, 1537-6605

U

Ugalde-Morales, Emilio and Wilf, Rona and Pluta, John and Ploner, Alexander and Fan, Mengyao and Damra, Mohammad and Aben, Katja K. and Anson-Cartwright, Lynn and Chen, Chu and Cortessis, Victoria K. and Daneshmand, Siamak and Ferlin, Alberto and Gamulin, Marija and Gietema, Jourik A. and Gonzalez-Niera, Anna and Grotmol, Tom and Hamilton, Robert J. and Harland, Mark and Haugen, Trine B. and Hauser, Russ and Hildebrandt, Michelle A. T. and Karlsson, Robert and Kiemeney, Lambertus A. and Kim, Jung and Lessel, Davor and Lothe, Ragnhild A. and Loveday, Chey and Chanock, Stephen J. and Mcglynn, Katherine A. and Meijer, Coby and Nead, Kevin T. and Nsengimana, Jeremie and Popovic, Maja and Rafnar, Thorunn and Richiardi, Lorenzo and Rocca, Maria S. and Schwartz, Stephen M. and Skotheim, Rolf I. and Stefansson, Kari and Stewart, Douglas R. and Turnbull, Clare and Vaughn, David J. and Winge, Sofia B. and Zheng, Tongzhang and Monteiro, Alvaro N. and Almstrup, Kristian and Kanetsky, Peter A. and Nathanson, Katherine L. and Wiklund, Fredrik (2025) Identification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study. AMERICAN JOURNAL OF HUMAN GENETICS, 112 (3). pp. 630-643. ISSN 0002-9297, 1537-6605

W

Weaver, K. Nicole and Watt, Kristin E. Noack and Hufnagel, Robert B. and Acedo, Joaquin Navajas and Linscott, Luke L. and Sund, Kristen L. and Bender, Patricia L. and Koenig, Rainer and Lourenco, Charles M. and Hehr, Ute and Hopkin, Robert J. and Lohmann, Dietmar R. and Trainor, Paul A. and Wieczorek, Dagmar and Saal, Howard M. (2015) Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. AMERICAN JOURNAL OF HUMAN GENETICS, 96 (5). pp. 765-774. ISSN 0002-9297, 1537-6605

Wieczorek, Dagmar and Newman, William G. and Wieland, Thomas and Berulava, Tea and Kaffe, Maria and Falkenstein, Daniela and Beetz, Christian and Graf, Elisabeth and Schwarzmayr, Thomas and Douzgou, Sofia and Clayton-Smith, Jill and Daly, Sarah B. and Williams, Simon G. and Bhaskar, Sanjeev S. and Urquhart, Jill E. and Anderson, Beverley and O'Sullivan, James and Boute, Odile and Gundlach, Jasmin and Czeschik, Johanna Christina and van Essen, Anthonie J. and Hazan, Filiz and Park, Sarah and Hing, Anne and Kuechler, Alma and Lohmann, Dietmar R. and Ludwig, Kerstin U. and Mangold, Elisabeth and Steenpass, Laura and Zeschnigk, Michael and Lemke, Johannes R. and Lourenco, Charles Marques and Hehr, Ute and Prott, Eva-Christina and Waldenberger, Melanie and Boehmer, Anne C. and Horsthemke, Bernhard and O'Keefe, Raymond T. and Meitinger, Thomas and Bum, John and Luedecke, Hermann-Josef and Strom, Tim M. (2014) Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome. AMERICAN JOURNAL OF HUMAN GENETICS, 95 (6). pp. 698-707. ISSN 0002-9297, 1537-6605