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Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4.
Strathmann, E.A. and Hölker, I. and Tschernoster, N. and Hosseinibarkooie, S. and Come, J. and Martinat, C. and Altmüller, J. and Wirth, B.
American Journal of Human Genetics 110 (3): 442-459. 2 March 2023

Familial long-read sequencing increases yield of de novo mutations.
Noyes, M.D. and Harvey, W.T. and Porubsky, D. and Sulovari, A. and Li, R. and Rose, N.R. and Audano, P.A. and Munson, K.M. and Lewis, A.P. and Hoekzema, K. and Mantere, T. and Graves-Lindsay, T.A. and Sanders, A.D. and Goodwin, S. and Kramer, M. and Mokrab, Y. and Zody, M.C. and Hoischen, A. and Korbel, J.O. and McCombie, W.R. and Eichler, E.E.
American Journal of Human Genetics 109 (4): 631-646. 7 April 2022

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Duncan, A.R. and Polovitskaya, M.M. and Gaitán-Peñas, H. and Bertelli, S. and VanNoy, G.E. and Grant, P.E. and O'Donnell-Luria, A. and Valivullah, Z. and Lovgren, A.K. and England, E.M. and Agolini, E. and Madden, J.A. and Schmitz-Abe, K. and Kritzer, A. and Hawley, P. and Novelli, A. and Alfieri, P. and Colafati, G.S. and Wieczorek, D. and Platzer, K. and Luppe, J. and Koch-Hogrebe, M. and Abou Jamra, R. and Neira-Fresneda, J. and Lehman, A. and Boerkoel, C.F. and Seath, K. and Clarke, L. and van Ierland, Y. and Argilli, E. and Sherr, E.H. and Maiorana, A. and Diel, T. and Hempel, M. and Bierhals, T. and Estévez, R. and Jentsch, T.J. and Pusch, M. and Agrawal, P.B.
American Journal of Human Genetics 108 (8): 1450-1465. 5 August 2021

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Weng, P.L. and Majmundar, A.J. and Khan, K. and Lim, T.Y. and Shril, S. and Jin, G. and Musgrove, J. and Wang, M. and Ahram, D.F. and Aggarwal, V.S. and Bier, L.E. and Heinzen, E.L. and Onuchic-Whitford, A.C. and Mann, N. and Buerger, F. and Schneider, R. and Deutsch, K. and Kitzler, T.M. and Klämbt, V. and Kolb, A. and Mao, Y. and Moufawad El Achkar, C. and Mitrotti, A. and Martino, J. and Beck, B.B. and Altmüller, J. and Benz, M.R. and Yano, S. and Mikati, M.A. and Gunduz, T. and Cope, H. and Shashi, V. and Trachtman, H. and Bodria, M. and Caridi, G. and Pisani, I. and Fiaccadori, E. and AbuMaziad, A.S. and Martinez-Agosto, J.A. and Yadin, O. and Zuckerman, J. and Kim, A. and John-Kroegel, U. and Tyndall, A.V. and Parboosingh, J.S. and Innes, A.M. and Bierzynska, A. and Koziell, A.B. and Muorah, M. and Saleem, M.A. and Hoefele, J. and Riedhammer, K.M. and Gharavi, A.G. and Jobanputra, V. and Pierce-Hoffman, E. and Seaby, E.G. and O'Donnell-Luria, A. and Rehm, H.L. and Mane, S. and D'Agati, V.D. and Pollak, M.R. and Ghiggeri, G.M. and Lifton, R.P. and Goldstein, D.B. and Davis, E.E. and Hildebrandt, F. and Sanna-Cherchi, S.
American Journal of Human Genetics 108 (2): 357-367. 4 February 2021

A recurrent gain-of-function mutation in CLCN6, encoding the ClC-6 Cl-/H+-exchanger, causes early-onset neurodegeneration.
Polovitskaya, M.M. and Barbini, C. and Martinelli, D. and Harms, F.L. and Cole, F.S. and Calligari, P. and Bocchinfuso, G. and Stella, L. and Ciolfi, A. and Niceta, M. and Rizza, T. and Shinawi, M. and Sisco, K. and Johannsen, J. and Denecke, J. and Carrozzo, R. and Wegner, D.J. and Kutsche, K. and Tartaglia, M. and Jentsch, T.J.
American Journal of Human Genetics 107 (6): 1062-1077. 3 December 2020

Mutations in SREBF1, encoding sterol regulatory element binding transcription factor 1, cause autosomal-dominant IFAP syndrome.
Wang, H. and Humbatova, A. and Liu, Y. and Qin, W. and Lee, M. and Cesarato, N. and Kortüm, F. and Kumar, S. and Romano, M.T. and Dai, S. and Mo, R. and Sivalingam, S. and Motameny, S. and Wu, Y. and Wang, X. and Niu, X. and Geng, S. and Bornholdt, D. and Kroisel, P.M. and Tadini, G. and Walter, S.D. and Hauck, F. and Girisha, K.M. and Calza, A.M. and Bottani, A. and Altmüller, J. and Buness, A. and Yang, S. and Sun, X. and Ma, L. and Kutsche, K. and Grzeschik, K.H. and Betz, R.C. and Lin, Z.
American Journal of Human Genetics 107 (1): 34-45. 2 July 2020

De novo mutations in FOXJ1 result in a motile ciliopathy with hydrocephalus and randomization of left/right body asymmetry.
Wallmeier, J. and Frank, D. and Shoemark, A. and Nöthe-Menchen, T. and Cindric, S. and Olbrich, H. and Loges, N.T. and Aprea, I. and Dougherty, G.W. and Pennekamp, P. and Kaiser, T. and Mitchison, H.M. and Hogg, C. and Carr, S.B. and Zariwala, M.A. and Ferkol, T. and Leigh, M.W. and Davis, S.D. and Atkinson, J. and Dutcher, S.K. and Knowles, M.R. and Thiele, H. and Altmüller, J. and Krenz, H. and Wöste, M. and Brentrup, A. and Ahrens, F. and Vogelberg, C. and Morris-Rosendahl, D.J. and Omran, H.
American Journal of Human Genetics 105 (5): 1030-1039. 7 November 2019

Autosomal-recessive mutations in MESD cause osteogenesis imperfecta.
Moosa, S. and Yamamoto, G.L. and Garbes, L. and Keupp, K. and Beleza-Meireles, A. and Moreno, C.A. and Valadares, E.R. and de Sousa, S.B. and Maia, S. and Saraiva, J. and Honjo, R.S. and Kim, C.A. and Cabral de Menezes, H. and Lausch, E. and Lorini, P.V. and Lamounier, A. and Carniero, T.C.B. and Giunta, C. and Rohrbach, M. and Janner, M. and Semler, O. and Beleggia, F. and Li, Y. and Yigit, G. and Reintjes, N. and Altmüller, J. and Nürnberg, P. and Cavalcanti, D.P. and Zabel, B. and Warman, M.L. and Bertola, D.R. and Wollnik, B. and Netzer, C.
American Journal of Human Genetics 105 (4): 836-843. 3 October 2019

Mutations in PIGB cause an inherited GPI biosynthesis defect with an axonal neuropathy and metabolic abnormality in severe cases.
Murakami, Y. and Nguyen, T.T.M. and Baratang, N. and Raju, P.K. and Knaus, A. and Ellard, S. and Jones, G. and Lace, B. and Rousseau, J. and Ajeawung, N.F. and Kamei, A. and Minase, G. and Akasaka, M. and Araya, N. and Koshimizu, E. and van den Ende, J. and Erger, F. and Altmüller, J. and Krumina, Z. and Strautmanis, J. and Inashkina, I. and Stavusis, J. and El-Gharbawy, A. and Sebastian, J. and Puri, R.D. and Kulshrestha, S. and Verma, I.C. and Maier, E.M. and Haack, T.B. and Israni, A. and Baptista, J. and Gunning, A. and Rosenfeld, J.A and Liu, P. and Joosten, M. and Rocha, M.E. and Hashem, M.O. and Aldhalaan, H.M. and Alkuraya, F.S. and Miyatake, S. and Matsumoto, N. and Krawitz, P.M. and Rossignol, E. and Kinoshita, T. and Campeau, P.M.
American Journal of Human Genetics 105 (2): 384-394. 1 August 2019

Gain-of-function mutations in KCNN3 encoding the small-conductance Ca(2+)-activated K(+) channel SK3 cause Zimmermann-Laband syndrome.
Bauer, C.K. and Schneeberger, P.E. and Kortüm, F. and Altmüller, J. and Santos-Simarro, F. and Baker, L. and Keller-Ramey, J. and White, S.M. and Campeau, P.M. and Gripp, K.W. and Kutsche, K.
American Journal of Human Genetics 104 (6): 1139-1157. 6 June 2019

Rare variants in BNC2 are implicated in autosomal-dominant congenital lower urinary-tract obstruction.
Kolvenbach, C.M. and Dworschak, G.C. and Frese, S. and Japp, A.S. and Schuster, P. and Wenzlitschke, N. and Yilmaz, Ö. and Lopes, F.M. and Pryalukhin, A. and Schierbaum, L. and van der Zanden, L.F.M. and Kause, F. and Schneider, R. and Taranta-Janusz, K. and Szczepańska, M. and Pawlaczyk, K. and Newman, W.G. and Beaman, G.M. and Stuart, H.M. and Cervellione, R.M. and Feitz, W.F.J. and van Rooij, I.A.L.M. and Schreuder, M.F. and Steffens, M. and Weber, S. and Merz, W.M. and Feldkötter, M. and Hoppe, B. and Thiele, H. and Altmüller, J. and Berg, C. and Kristiansen, G. and Ludwig, M. and Reutter, H. and Woolf, A.S. and Hildebrandt, F. and Grote, P. and Zaniew, M. and Odermatt, B. and Hilger, A.C.
American Journal of Human Genetics 104 (5): 994-1006. 2 May 2019

The discovery of a LEMD2-associated nuclear envelopathy with early progeroid appearance suggests advanced applications for AI-driven facial phenotyping.
Marbach, F. and Rustad, C.F. and Riess, A. and Đukić, D. and Hsieh, T.C. and Jobani, I. and Prescott, T. and Bevot, A. and Erger, F. and Houge, G. and Redfors, M. and Altmueller, J. and Stokowy, T. and Gilissen, C. and Kubisch, C. and Scarano, E. and Mazzanti, L. and Fiskerstrand, T. and Krawitz, P.M. and Lessel, D. and Netzer, C.
American Journal of Human Genetics 104 (4): 749-757. 4 April 2019

The genetic ancestry of modern Indus Valley populations from Northwest India.
Pathak, A.K. and Kadian, A. and Kushniarevich, A. and Montinaro, F. and Mondal, M. and Ongaro, L. and Singh, M. and Kumar, P. and Rai, N. and Parik, J. and Metspalu, E. and Rootsi, S. and Pagani, L. and Kivisild, T. and Metspalu, M. and Chaubey, G. and Villems, R.
American Journal of Human Genetics 103 (6): 918-929. 6 December 2018

The genetic landscape of diamond-blackfan anemia.
Ulirsch, J.C. and Verboon, J.M. and Kazerounian, S. and Guo, M.H. and Yuan, D. and Ludwig, L.S. and Handsaker, R.E. and Abdulhay, N.J. and Fiorini, C. and Genovese, G. and Lim, E.T. and Cheng, A. and Cummings, B.B. and Chao, K.R. and Beggs, A.H. and Genetti, C.A. and Sieff, C.A. and Newburger, P.E. and Niewiadomska, E. and Matysiak, M. and Vlachos, A. and Lipton, J.M. and Atsidaftos, E. and Glader, B. and Narla, A. and Gleizes, P.E. and O'Donohue, M.F. and Montel-Lehry, N. and Amor, D.J. and McCarroll, S.A. and O'Donnell-Luria, A.H. and Gupta, N. and Gabriel, S.B. and MacArthur, D.G. and Lander, E.S. and Lek, M. and Da Costa, L. and Nathan, D.G. and Korostelev, A.A. and Do, R. and Sankaran, V.G. and Gazda, H.T.
American Journal of Human Genetics 103 (6): 930-947. 6 December 2018

Bi-allelic mutations in LSS, encoding lanosterol synthase, cause autosomal-recessive hypotrichosis simplex.
Romano, M.T. and Tafazzoli, A. and Mattern, M. and Sivalingam, S. and Wolf, S. and Rupp, A. and Thiele, H. and Altmüller, J. and Nürnberg, P. and Ellwanger, J. and Gambon, R. and Baumer, Al. and Kohlschmidt, N. and Metze, D. and Holdenrieder, S. and Paus, R. and Lütjohann, D. and Frank, J. and Geyer, M. and Bertolini, M. and Kokordelis, P. and Betz, R.C.
American Journal of Human Genetics 103 (5): 777-785. 1 November 2018

Germline de novo mutations in ATP1A1 cause renal hypomagnesemia, refractory seizures, and intellectual disability.
Schlingmann, K.P. and Bandulik, S. and Mammen, C. and Tarailo-Graovac, M. and Holm, R. and Baumann, M. and König, J. and Lee, J.J.Y. and Drögemöller, B. and Imminger, K. and Beck, B.B. and Altmüller, J. and Thiele, H. and Waldegger, S. and Van't Hoff, W. and Kleta, R. and Warth, R. and van Karnebeek, C.D.M. and Vilsen, B. and Bockenhauer, D. and Konrad, M.
American Journal of Human Genetics 103 (5): 808-816. 1 November 2018

Biallelic mutations in ADPRHL2, encoding ADP-ribosylhydrolase 3, lead to a degenerative pediatric stress-induced epileptic ataxia syndrome.
Ghosh, S.G. and Becker, K. and Huang, H. and Dixon-Salazar, T. and Chai, G. and Salpietro, V. and Al-Gazali, L. and Waisfisz, Q. and Wang, H. and Vaux, K.K. and Stanley, V. and Manole, A. and Akpulat, U. and Weiss, M.M. and Efthymiou, S. and Hanna, M.G. and Minetti, C. and Striano, P. and Pisciotta, L. and De Grandis, E. and Altmüller, J. and Weixler, L. and Nürnberg, P. and Thiele, H. and Yis, U. and Okur, T.D. and Polat, A.I. and Amiri, N. and Doosti, M. and Karimani, E.G. and Toosi, M.B. and Haddad, G. and Karakaya, M. and Wirth, B. and van Hagen, J.M. and Wolf, N.I. and Maroofian, R. and Houlden, H. and Cirak, S. and Gleeson, J.G.
American Journal of Human Genetics 103 (3): 431-439. 6 September 2018

Mutations in TOP3A cause a bloom syndrome-like disorder.
Martin, C.A. and Sarlós, K. and Logan, C.V. and Thakur, R.S. and Parry, D.A. and Bizard, A.H. and Leitch, A. and Cleal, L. and Ali, N.S. and Al-Owain, M.A. and Allen, W. and Altmüller, J. and Aza-Carmona, M. and Barakat, B.A.Y. and Barraza-García, J. and Begtrup, A. and Bogliolo, M. and Cho, M.T. and Cruz-Rojo, J. and Dhahrabi, H.A.M. and Elcioglu, N.H. and Gorman, G.S. and Jobling, R. and Kesterton, I. and Kishita, Y. and Kohda, M. and Le Quesne Stabej, P. and Malallah, A.J. and Nürnberg, P. and Ohtake, A. and Okazaki, Y. and Pujol, R. and Ramirez, M.J. and Revah-Politi, A. and Shimura, M. and Stevens, P. and Taylor, R.W. and Turner, L. and Williams, H. and Wilson, C. and Yigit, G. and Zahavich, L. and Alkuraya, F.S. and Surralles, J. and Iglesias, A. and Murayama, K. and Wollnik, B. and Dattani, M. and Heath, K.E. and Hickson, I.D. and Jackson, A.P.
American Journal of Human Genetics 103 (2): 221-231. 2 August 2018

Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome.
Vasileiou, G. and Vergarajauregui, S. and Endele, S. and Popp, B. and Büttner, C. and Ekici, A.B. and Gerard, M. and Bramswig, N.C. and Albrecht, B. and Clayton-Smith, J. and Morton, J. and Tomkins, S. and Low, K. and Weber, A. and Wenzel, M. and Altmüller, J. and Li, Y. and Wollnik, B. and Hoganson, G. and Plona, M.R. and Cho, M.T. and Thiel, C.T. and Lüdecke, H.J. and Strom, T.M. and Calpena, E. and Wilkie, A.O.M. and Wieczorek, D. and Engel, F.B. and Reis, A.
American Journal of Human Genetics 102 (3): 468-479. 1 March 2018

De novo mutations in SLC25A24 cause a craniosynostosis syndrome with hypertrichosis, progeroid appearance, and mitochondrial dysfunction.
Ehmke, N. and Graul-Neumann, L. and Smorag, L. and Koenig, R. and Segebrecht, L. and Magoulas, P. and Scaglia, F. and Kilic, E. and Hennig, A.F. and Adolphs, N. and Saha, N. and Fauler, B. and Kalscheuer, V.M. and Hennig, F. and Altmüller, J. and Netzer, C. and Thiele, H. and Nürnberg, P. and Yigit, G. and Jäger, M. and Hecht, J. and Krüger, U. and Mielke, T. and Krawitz, P.M. and Horn, D. and Schuelke, M. and Mundlos, S. and Bacino, C.A. and Bonnen, P.E. and Wollnik, B. and Fischer-Zirnsak, B. and Kornak, U.
American Journal of Human Genetics 101 (5): 833-843. 2 November 2017

Profiling of short-tandem-repeat disease alleles in 12,632 human whole genomes.
Tang, H. and Kirkness, E.F. and Lippert, C. and Biggs, W.H. and Fabani, M. and Guzman, E. and Ramakrishnan, S. and Lavrenko, V. and Kakaradov, B. and Hou, C. and Hicks, B. and Heckerman, D. and Och, F.J. and Caskey, C.T. and Venter, J.C. and Telenti, A.
American Journal of Human Genetics 101 (5): 700-715. 2 November 2017

CDK10 mutations in humans and mice cause severe growth retardation, spine malformations, and developmental delays.
Windpassinger, C. and Piard, J. and Bonnard, C. and Alfadhel, M. and Lim, S. and Bisteau, X. and Blouin, S. and Ali, N.A.B. and Ng, A.Y.J. and Lu, H. and Tohari, S. and Talib, S.Z.A. and van Hul, N. and Caldez, M.J. and Van Maldergem, L. and Yigit, G. and Kayserili, H. and Youssef, S.A. and Coppola, V. and de Bruin, A. and Tessarollo, L. and Choi, H. and Rupp, V. and Roetzer, K. and Roschger, P. and Klaushofer, K. and Altmüller, J. and Roy, S. and Venkatesh, B. and Ganger, R. and Grill, F. and Ben Chehida, F. and Wollnik, B. and Altunoglu, U. and Al Kaissi, A. and Reversade, B. and Kaldis, P.
American Journal of Human Genetics 101 (3): 391-403. 7 September 2017

Exome sequencing identifies biallelic MSH3 germline mutations as a recessive subtype of colorectal adenomatous polyposis.
Adam, R. and Spier, I. and Zhao, B. and Kloth, M. and Marquez, J. and Hinrichsen, I. and Kirfel, J. and Tafazzoli, A. and Horpaopan, S. and Uhlhaas, S. and Stienen, D. and Friedrichs, N. and Altmüller, J. and Laner, A. and Holzapfel, S. and Peters, S. and Kayser, K. and Thiele, H. and Holinski-Feder, E. and Marra, G. and Kristiansen, G. and Nöthen, M.M. and Büttner, R. and Möslein, G. and Betz, R.C. and Brieger, A. and Lifton, R.P. and Aretz, S.
American Journal of Human Genetics 99 (2): 337-51. 4 August 2016

TTC25 deficiency results in defects of the outer dynein arm docking machinery and primary ciliary dyskinesia with left-right body asymmetry randomization.
Wallmeier, J. and Shiratori, H. and Dougherty, G.W. and Edelbusch, C. and Hjeij, R. and Loges, N.T. and Menchen, T. and Olbrich, H. and Pennekamp, P. and Raidt, J. and Werner, C. and Minegishi, K. and Shinohara, K. and Asai, Y. and Takaoka, K. and Lee, C. and Griese, M. and Memari, Y. and Durbin, R. and Kolb-Kokocinski, A. and Sauer, S. and Wallingford, J.B. and Hamada, H. and Omran, H.
American Journal of Human Genetics 99 (2): 460-469. 4 August 2016

Bi-allelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy.
Kremer, L.S. and Distelmaier, F. and Alhaddad, B. and Hempel, M. and Iuso, A. and Küpper, C. and Mühlhausen, C. and Kovacs-Nagy, R. and Satanovskij, R. and Graf, E. and Berutti, R. and Eckstein, G. and Durbin, R. and Sauer, S. and Hoffmann, G.F. and Strom, T.M. and Santer, R. and Meitinger, T. and Klopstock, T. and Prokisch, H. and Haack, T.B.
American Journal of Human Genetics 98 (2): 358-362. 4 February 2016

Loss-of-function GAS8 mutations cause primary ciliary dyskinesia and disrupt the nexin-dynein regulatory complex.
Olbrich, H. and Cremers, C. and Loges, N.T. and Werner, C. and Nielsen, K.G. and Marthin, J.K. and Philipsen, M. and Wallmeier, J. and Pennekamp, P. and Menchen, T. and Edelbusch, C. and Dougherty, G.W. and Schwartz, O. and Thiele, H. and Altmüller, J. and Rommelmann, F. and Omran, H.
American Journal of Human Genetics 97 (4): 546-54. 1 October 2015

Mutations in TBX18 cause dominant urinary tract malformations via transcriptional dysregulation of ureter development.
Vivante, Asaf and Kleppa, M.J. and Schulz, J. and Kohl, S. and Sharma, A. and Chen, J. and Shril, S. and Hwang, D.Y. and Weiss, A.C. and Kaminski, M.M. and Shukrun, R. and Kemper, M.J. and Lehnhardt, A. and Beetz, R. and Sanna-Cherchi, S. and Verbitsky, M. and Gharavi, A.G. and Stuart, H.M. and Feather, S.A. and Goodship, J.A. and Goodship, T.H.J. and Woolf, A.S. and Westra, S.J. and Doody, D.P. and Bauer, S.B. and Lee, R.S. and Adam, R.M. and Lu, W. and Reutter, H.M. and Kehinde, E.O. and Mancini, E.J. and Lifton, R.P. and Tasic, V. and Lienkamp, S.S. and Jüppner, H. and Kispert, A. and Hildebrandt, F.
American Journal of Human Genetics 97 (2): 291-301. 6 August 2015

Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.
Baurecht, H. and Hotze, M. and Brand, S. and Büning, C. and Cormican, P. and Corvin, A. and Ellinghaus, D. and Ellinghaus, E. and Esparza-Gordillo, J. and Fölster-Holst, R. and Franke, A. and Gieger, C. and Hubner, N. and Illig, T. and Irvine, A.D. and Kabesch, M. and Lee, Y.A.E. and Lieb, W. and Marenholz, I. and McLean, W.H.I. and Morris, D.W. and Mrowietz, U. and Nair, R. and Nöthen, M.M. and Novak, N. and O'Regan, G.M. and Schreiber, S. and Smith, C. and Strauch, K. and Stuart, P.E. and Trembath, R. and Tsoi, L.C. and Weichenthal, M. and Barker, J. and Elder, J.T. and Weidinger, S. and Cordell, H.J. and Brown, S.J.
American Journal of Human Genetics 96 (1): 104-120. 8 January 2015

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
Ehmke, N. and Caliebe, A. and Koenig, R. and Kant, S.G. and Stark, Z. and Cormier-Daire, V. and Wieczorek, D. and Gillessen-Kaesbach, G. and Hoff, K. and Kawalia, A. and Thiele, H. and Altmüller, J. and Fischer-Zirnsak, B. and Knaus, A. and Zhu, N. and Heinrich, V. and Huber, C. and Harabula, I. and Spielmann, M. and Horn, D. and Kornak, U. and Hecht, J. and Krawitz, P.M. and Nürnberg, P. and Siebert, R. and Manzke, H. and Mundlos, S.
American Journal of Human Genetics 95 (6): 763-70. 4 December 2014

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
Hussain, M.S. and Battaglia, A. and Szczepanski, S. and Kaygusuz, E. and Toliat, M.R. and Sakakibara, S. and Altmüller, J. and Thiele, H. and Nürnberg, G. and Moosa, S. and Yigit, G. and Beleggia, F. and Tinschert, S. and Clayton-Smith, J. and Vasudevan, P. and Urquhart, J.E. and Donnai, D. and Fryer, A. and Percin, F. and Brancati, F. and Dobbie, A. and Smigiel, R. and Gillessen-Kaesbach, G. and Wollnik, B. and Noegel, A.A. and Newman, W.G. and Nürnberg, P.
American Journal of Human Genetics 95 (5): 622-632. 6 November 2014

Rare variants in NR2F2 cause congenital heart defects in humans.
Al Turki, S. and Manickaraj, A.K. and Mercer, C.L. and Gerety, S.S. and Hitz, M.P. and Lindsay, S. and D'Alessandro, L.C.A. and Swaminathan, G.J. and Bentham, J. and Arndt, A.K. and Low, J. and Breckpot, J. and Gewillig, M. and Thienpont, B. and Abdul-Khaliq, H. and Harnack, C. and Hoff, K. and Kramer, H.H. and Schubert, S. and Siebert, R. and Toka, O. and Cosgrove, C. and Watkins, H. and Lucassen, A.M. and O'Kelly, I.M. and Salmon, A.P. and Bu'Lock, F.A. and Granados-Riveron, J. and Setchfield, K. and Thornborough, C. and Brook, J.D. and Mulder, B. and Klaassen, S. and Bhattacharya, S. and Devriendt, K. and Fitzpatrick, D.F. and Wilson, D.I. and Mital, S. and Hurles, M.E.
American Journal of Human Genetics 94 (4): 574-585. 3 April 2014

Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.
Arndt, A.K. and Schaefer, S. and Drenckhahn, J.D. and Sabeh, M.K. and Plovie, E.R. and Caliebe, A. and Klopocki, E. and Musso, G. and Werdich, A.A. and Kalwa, H. and Heinig, M. and Padera, R.F. and Wassilew, K. and Bluhm, J. and Harnack, C. and Martitz, J. and Barton, P.J. and Greutmann, M. and Berger, F. and Huebner, N. and Siebert, R. and Kramer, H.H. and Cook, S.A. and Macrae, C.A. and Klaassen, S.
American Journal of Human Genetics 93 (1): 67-77. 11 July 2013

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
Baumann, M. and Giunta, C. and Krabichler, B. and Rueschendorf, F. and Zoppi, N. and Colombi, M. and Bittner, R.E. and Quijano-Roy, S. and Muntoni, F. and Cirak, S. and Schreiber, G. and Zou, Y. and Hu, Y. and Romero, N.B. and Carlier, R.Y. and Amberger, A. and Deutschmann, A. and Straub, V. and Rohrbach, M. and Steinmann, B. and Rostasy, K. and Karall, D. and Boennemann, C.G. and Zschocke, J. and Fauth, C.
American Journal of Human Genetics 90 (2): 201-216. 10 February 2012

ST3GAL3 mutations impair the development of higher cognitive functions.
Hu, H. and Eggers, K. and Chen, W. and Garshasbi, M. and Motazacker, M.M. and Wrogemann, K. and Kahrizi, K. and Tzschach, A. and Hosseini, M. and Bahman, I. and Hucho, T. and Muehlenhoff, M. and Gerardy-Schahn, R. and Najmabadi, H. and Ropers, H.H. and Kuss, A.W.
American Journal of Human Genetics 89 (3): 407-414. 9 September 2011

CNNM2, encoding a basolateral protein required for renal Mg(2+) handling, is mutated in dominant hypomagnesemia.
Stuiver, M. and Lainez, S. and Will, C. and Terryn, S. and Guenzel, D. and Debaix, H. and Sommer, K. and Kopplin, K. and Thumfart, J. and Kampik, N.B. and Querfeld, U. and Willnow, T.E. and Nemec, V. and Wagner, C.A. and Hoenderop, J.G. and Devuyst, O. and Knoers, N.V. and Bindels, R.J. and Meij, I.C. and Mueller, D.
American Journal of Human Genetics 88 (3): 333-343. 11 March 2011

Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications.
Ballantyne, K.N. and Goedbloed, M. and Fang, R. and Schaap, O. and Lao, O. and Wollstein, A. and Choi, Y. and van Duijn, K. and Vermeulen, M. and Brauer, S. and Decorte, R. and Poetsch, M. and von Wurmb-Schwark, N. and de Knijff, P. and Labuda, D. and Vezina, H. and Knoblauch, H. and Lessig, R. and Roewer, L. and Ploski, R. and Dobosz, T. and Henke, L. and Henke, J. and Furtado, M.R. and Kayser, M.
American Journal of Human Genetics 87 (3): 341-353. 10 September 2010

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
Gueneau, L. and Bertrand, A.T. and Jais, J.P. and Salih, M.A. and Stojkovic, T. and Wehnert, M. and Hoeltzenbein, M. and Spuler, S. and Saitoh, S. and Verschueren, A. and Tranchant, C. and Beuvin, M. and Lacene, E. and Romero, N.B. and Heath, S. and Zelenika, D. and Voit, T. and Eymard, B. and Ben Yaou, R. and Bonne, G.
American Journal of Human Genetics 85 (3): 338-353. September 2009

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.
Heinz-Erian, P. and Mueller, T. and Krabichler, B. and Schranz, M. and Becker, C. and Rueschendorf, F. and Nuernberg, P. and Rossier, B. and Vujic, M. and Booth, I.W. and Holmberg, C. and Wijmenga, C. and Grigelioniene, G. and Kneepkens, C.M. and Rosipal, S. and Mistrik, M. and Kappler, M. and Michaud, L. and Doczy, L.C. and Siu, V.M. and Krantz, M. and Zoller, H. and Utermann, G. and Janecke, A.R.
American Journal of Human Genetics 84 (2): 188-196. 13 February 2009

PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption.
Decker, E. and Stellzig-Eisenhauer, A. and Fiebig, B.S. and Rau, C. and Kress, W. and Saar, K. and Rueschendorf, F. and Huebner, N. and Grimm, T. and Weber, B.H.
American Journal of Human Genetics 83 (6): 781-786. 12 December 2008

Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.
Merner, N.D. and Hodgkinson, K.A. and Haywood, A.F. and Connors, S. and French, V.M. and Drenckhahn, J.D. and Kupprion, C. and Ramadanova, K. and Thierfelder, L. and McKenna, W. and Gallagher, B. and Morris-Larkin, L. and Bassett, A.S. and Parfrey, P.S. and Young, T.L.
American Journal of Human Genetics 82 (4): 809-821. 11 April 2008

Genome-wide analysis indicates more Asian than Melanesian ancestry of Polynesians.
Kayser, M. and Lao, O. and Saar, K. and Brauer, S. and Wang, X. and Nuernberg, P. and Trent, R.J. and Stoneking, M.
American Journal of Human Genetics 82 (1): 194-198. 10 January 2008

A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.
Motazacker, M.M. and Rost, B.R. and Hucho, T. and Garshasbi, M. and Kahrizi, K. and Ullmann, R. and Abedini, S.S. and Nieh, S.E. and Amini, S.H. and Goswami, C. and Tzschach, A. and Jensen, L.R. and Schmitz, D. and Ropers, H.H. and Najmabadi, H. and Kuss, A.W.
American Journal of Human Genetics 81 (4): 792-798. October 2007

Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice.
Leach, N.T. and Sun, Y. and Michaud, S. and Zheng, Y. and Ligon, K.L. and Ligon, A.H. and Sander, T. and Korf, B.R. and Lu, W. and Harris, D.J. and Gusella, J.F. and Maas, R.L. and Quade, B.J. and Cole, A.J. and Kelz, M.B. and Morton, C.C.
American Journal of Human Genetics 80 (4): 792-799. April 2007

Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33.
Sanna-Cherchi, S. and Caridi, G. and Weng, P.L. and Dagnino, M. and Seri, M. and Konka, A. and Somenzi, D. and Carrea, A. and Izzi, C. and Casu, D. and Allegri, L. and Schmidt-Ott, K.M. and Barasch, J. and Scolari, F. and Ravazzolo, R. and Ghiggeri, G.M. and Gharavi, A.G.
American Journal of Human Genetics 80 (3): 539-549. March 2007

Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.
Bergmann, C. and Senderek, J. and Anhuf, D. and Thiel, C.T. and Ekici, A.B. and Poblete-Gutierrez, P. and van Steensel, M. and Seelow, D. and Nuernberg, G. and Schild, H.H. and Nuernberg, P. and Reis, A. and Frank, J. and Zerres, K.
American Journal of Human Genetics 79 (6): 1105-1109. December 2006

Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III.
Cichon, S. and Martin, L. and Hennies, H.C. and Mueller, F. and Van Driessche, K. and Karpushova, A. and Stevens, W. and Colombo, R. and Renne, T. and Drouet, C. and Bork, K. and Noethen, M.M.
American Journal of Human Genetics 79 (6): 1098-1104. December 2006

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.
Gazda, H.T. and Grabowska, A. and Merida-Long, L.B. and Latawiec, E. and Schneider, H.E. and Lipton, J.M. and Vlachos, A. and Atsidaftos, E. and Ball, S.E. and Orfali, K.A. and Niewiadomska, E. and Da Costa, L. and Tchernia, G. and Niemeyer, C. and Meerpohl, J.J. and Stahl, J. and Schratt, G. and Glader, B. and Backer, K. and Wong, C. and Nathan, D.G. and Beggs, A.H. and Sieff, C.A.
American Journal of Human Genetics 79 (6): 1110-1118. December 2006

Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.
Heuser, A. and Plovie, E.R. and Ellinor, P.T. and Grossmann, K.S. and Shin, J.T. and Wichter, T. and Basson, C.T. and Lerman, B.B. and Sasse-Klaassen, S. and Thierfelder, L. and MacRae, C.A. and Gerull, B.
American Journal of Human Genetics 79 (6): 1081-1088. December 2006

Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement.
Konrad, M. and Schaller, A. and Seelow, D. and Pandey, A.V. and Waldegger, S. and Lesslauer, A. and Vitzthum, H. and Suzuki, Y. and Luk, J.M. and Becker, C. and Schlingmann, K.P. and Schmid, M. and Rodriguez-Soriano, J. and Ariceta, G. and Cano, F. and Enriquez, R. and Jueppner, H. and Bakkaloglu, S.A. and Hediger, M.A. and Gallati, S. and Neuhauss, S.C.F. and Nuernberg, P. and Weber, S.
American Journal of Human Genetics 79 (5): 949-957. 1 November 2006

Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.
Lee-Kirsch, M.A. and Gong, M. and Schulz, H. and Rüschendorf, F. and Stein, A. and Pfeiffer, C. and Ballarini, A. and Gahr, M. and Hubner, N. and Linne, M.
American Journal of Human Genetics 79 (4): 731-737. October 2006

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: Two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
Lugassy, J. and Itin, P. and Ishida-Yamamoto, A. and Holland, K. and Huson, S. and Geiger, D. and Hennies, H.C. and Indelman, M. and Bercovich, D. and Uitto, J. and Bergman, R. and McGrath, J.A. and Richard, G. and Sprecher, E.
American Journal of Human Genetics 79 (4): 724-730. October 2006

The effect of single-nucleotide polymorphism marker selection on patterns of haplotype blocks and haplotype frequency estimates.
Nothnagel, M. and Rohde, K.
American Journal of Human Genetics 77 (6): 988-998. 1 December 2005

Genomewide scan and fine-mapping linkage studies in four European samples with bipolar affective disorder suggest a new susceptibility locus on chromosome 1p35-p36 and provides further evidence of loci on chromosome 4q31 and 6q24.
Schumacher, J. and Kaneva, R. and Jamra, R.A. and Diaz, G.O. and Ohlraun, S. and Milanova, V. and Lee, Y.A. and Rivas, F. and Mayoral, F. and Fuerst, R. and Flaquer, A. and Windemuth, C. and Gay, E. and Sanz, S. and Gonzalez, M.J. and Gil, S. and Cabaleiro, F. and del Rio, F. and Perez, F. and Haro, J. and Kostov, C. and Chorbov, V. and Nikolova-Hill, A. and Stoyanova, V. and Onchev, G. and Kremensky, I. and Strauch, K. and Schulze, T.G. and Nuernberg, P. and Gaebel, W. and Klimke, A. and Auburger, G. and Wienker, T.F. and Kalaydjieva, L. and Propping, P. and Cichon, S. and Jablensky, A. and Rietschel, M. and Noethen, M.M.
American Journal of Human Genetics 77 (6): 1102-1111. 1 December 2005

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.
Thiel, C.T. and Horn, D. and Zabel, B. and Ekici, A.B. and Salinas, K. and Gebhart, E. and Rueschendorf, F. and Sticht, H. and Spranger, J. and Mueller, D. and Zweier, C. and Schmitt, M.E. and Reis, A. and Rauch, A.
American Journal of Human Genetics 77 (5): 795-806. 1 November 2005

Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia.
Hillmer, A.M. and Hanneken, S. and Ritzmann, S. and Becker, T. and Freudenberg, J. and Brockschmidt, F.F. and Flaquer, A. and Freudenberg-Hua, Y. and Jamra, R.A. and Metzen, C. and Heyn, U. and Schweiger, N. and Betz, R.C. and Blaumeiser, B. and Hampe, J. and Schreiber, S. and Schulze, T.G. and Hennies, H.C. and Schumacher, J. and Propping, P. and Ruzicka, T. and Cichon, S. and Wienker, T.F. and Kruse, R. and Noethen, M.M.
American Journal of Human Genetics 77 (1): 140-148. July 2005

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.
Uhlenberg, B. and Schuelke, M. and Rueschendorf, F. and Ruf, N. and Kaindl, A.M. and Henneke, M. and Thiele, H. and Stoltenburg-Didinger, G. and Aksu, F. and Topaloglu, H. and Nuernberg, P. and Huebner, C. and Weschke, B. and Gaertner, J.
American Journal of Human Genetics 75 (2): 251-260. August 2004

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.
Hennies, H.C. and Rauch, A. and Seifert, W. and Schumi, C. and Moser, E. and Al-Taji, E. and Tariverdian, G. and Chrzanowska, K.H. and Krajewska-Walasek, M. and Rajab, A. and Giugliani, R. and Neumann, T.E. and Eckl, K.M. and Karbasiyan, M. and Reis, A. and Horn, D.
American Journal of Human Genetics 75 (1): 138-145. July 2004

Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).
Donaudy, F. and Snoeckx, R. and Pfister, M. and Zenner, H.P. and Blin, N. and Di Stazio, M. and Ferrara, A. and Lanzara, C. and Ficarella, R. and Declau, F. and Pusch, C.M. and Nuernberg, P. and Melchionda, S. and Zelante, L. and Ballana, E. and Estivill, X. and Van Camp, G. and Gasparini, P. and Savoia, A.
American Journal of Human Genetics 74 (4): 770-776. April 2004

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.
Otto, E. and Hoefele, J. and Ruf, R. and Mueller, A.M. and Hiller, K.S. and Wolf, M.T.F. and Schuermann, M.J. and Becker, A. and Birkenhaeger, R. and Sudbrak, R. and Hennies, H.C. and Nuernberg, P. and Hildebrandt, F.
American Journal of Human Genetics 71 (5): 1161-1167. November 2002

Mapping of gene loci for nephronophthisis type 4 and Senior-Loken syndrome, to chromosome 1p36.
Schuermann, M.J. and Otto, E. and Becker, A. and Saar, K. and Rueschendorf, F. and Polak, B.C. and Ala-Mello, S. and Hoefele, J. and Wiedensohler, A. and Haller, M. and Omran, H. and Nuernberg, P. and Hildebrandt, F.
American Journal of Human Genetics 70 (5): 1240-1246. May 2002

A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.
Escayg, A. and Heils, A. and MacDonald, B.T. and Haug, K. and Sander, T. and Meisler, M.H.
American Journal of Human Genetics 68 : 866-873. 1 April 2001

A novel form of "central pouchlike" cataract, with sutural opacities, maps to chromosome 15q21-22.
Vanita, A. and Singh, J.R. and Sarhadi, V.K. and Singh, D. and Reis, A. and Rueschendorf, F. and Becker-Follmann, J. and Jung, M. and Sperling, K.
American Journal of Human Genetics 68 (2): 509-514. February 2001

Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity.
Krebsova, A. and Kuester, W. and Lestringant, G.G. and Schulze, B. and Hinz, B. and Frossard, P.M. and Reis, A. and Hennies, H.C.
American Journal of Human Genetics 69 (1): 216-222. 1 January 2001

A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.
Leal, A. and Morera, B. and del Valle, G. and Heuss, D. and Kayser, C. and Berghoff, M. and Villegas, R. and Hernandez, E. and Mendez, M. and Hennies, H.C. and Neundoerfer, B. and Barrantes, R. and Reis, A. and Rautenstrauss, B.
American Journal of Human Genetics 68 : 269-274. 1 January 2001

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.
Slaugenhaupt, S.A. and Blumenfeld, A. and Gill, S.P. and Leyne, M. and Mull, J. and Cuajungco, M.P. and Liebert, C.B. and Chadwick, B. and Idelson, M. and Reznik, L. and Robbins, C.M. and Makalowska, I. and Brownstein, M.J. and Krappmann, D. and Scheidereit, C. and Maayan, C. and Axelrod, F.B. and Gusella, J.F.
American Journal of Human Genetics 68 : 598-605. 1 January 2001

Splitting schizophrenia: Periodic catatonia-susceptibility locus on chromosome 15q15.
Stoeber, G. and Saar, K. and Rueschendorf, F. and Meyer, J. and Nuernberg, G. and Jatzke, S. and Franzek, E. and Reis, A. and Lesch, K.P. and Wienker, T.F. and Beckmann, H.
American Journal of Human Genetics 67 : 1201-1207. 1 November 2000

Genomewide scan in German families reveals evidence for a novel psoriasis-susceptibility locus on chromosome 19p13.
Lee, Y.A. and Rueschendorf, F. and Windemuth, C. and Schmitt-Egenolf, M. and Stadelmann, A. and Nuernberg, G. and Staender, M. and Wienker, T.F. and Reis, A. and Traupe, H.
American Journal of Human Genetics 67 (4): 1020-1024. 1 October 2000

Localization of a gene for syndactyly type 1 to chromosome 2q34-q36.
Bosse, K. and Betz, R.C. and Lee, Y.A. and Wienker, T.F. and Reis, A. and Kleen, H. and Propping, P. and Cichon, S. and Noethen, M.M.
American Journal of Human Genetics 67 : 492-497. 1 August 2000

A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3.
Betz, R.C. and Lee, Y.A. and Bygum, A. and Brandrup, F. and Bernal, A.I. and Toribio, J. and Alvarez, J.I. and Kukuk, G.M. and Ibsen, H.H.W. and Rasmussen, H.B. and Wienker, T.F. and Reis, A. and Propping, P. and Kruse, R. and Cichon, S. and Noethen, M.M.
American Journal of Human Genetics 66 : 1979-1983. 1 June 2000

Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.
Escayg, A. and De Waard, M. and Lee, D.D. and Bichet, D. and Wolf, P. and Mayer, T. and Johnston, J. and Baloh, R. and Sander, T. and Meisler, M.H.
American Journal of Human Genetics 66 (5): 1531-1539. 1 May 2000

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
Fahsold, R. and Hoffmeyer, S. and Mischung, C. and Gille, C. and Ehlers, C. and Kuecuekceylan, N. and Abdel-Nour, M. and Gewies, A. and Peters, H. and Kaufmann, D. and Buske, A. and Tinschert, S. and Nuernberg, P.
American Journal of Human Genetics 66 (3): 790-818. March 2000

A cholesterol-lowering gene maps to chromosome 13q.
Knoblauch, H. and Mueller-Myhsok, B. and Busjahn, A. and Avi, L.B. and Bähring, S. and Baron, H. and Heath, S.C. and Uhlmann, R. and Faulhaber, H.D. and Shpitzen, S. and Aydin, A. and Reshef, A. and Rosenthal, M. and Eliav, O. and Muhl, A. and Lowe, A. and Schurr, D. and Harats, D. and Jeschke, E. and Friedlander, Y. and Schuster, H. and Luft, F.C. and Leitersdorf, E.
American Journal of Human Genetics 66 (1): 157-166. 1 January 2000

Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large venezuelan pedigree.
Omran, H. and Fernandez, C. and Jung, M. and Haeffner, K. and Fargier, B. and Villaquiran, A. and Waldherr, R. and Gretz, N. and Brandis, M. and Rueschendorf, F. and Reis, A. and Hildebrandt, F.
American Journal of Human Genetics 66 (1): 118-127. 1 January 2000

Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity.
Saar, K. and Al-Gazali, L. and Sztriha, L. and Rueschendorf, F. and Nur-E-Kamal, M. and Reis, A. and Bayoumi, R.
American Journal of Human Genetics 65 : 1666-1671. 1 December 1999

Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14-q22.
Jung, M. and Poepping, I. and Perrot, A. and Ellmer, A.E. and Wienker, T.F. and Dietz, R. and Reis, A. and Osterziel, K.J.
American Journal of Human Genetics 65 (4): 1068-1077. October 1999

The Fanconi anemia group E gene, FANCE, maps to chromosome 6p.
Waisfisz, Q. and Saar, K. and Morgan, N.V. and Altay, C. and Leegwater, P.A. and de Winter, J.P. and Komatsu, K. and Evans, G.R. and Wegner, R.D. and Reis, A. and Joenje, H. and Arwert, F. and Mathew, C.G. and Pronk, J.C. and Digweed, M.
American Journal of Human Genetics 64 : 1400-1405. 1 May 1999

A genomewide analysis provides evidence for novel linkages in inflammatory bowel disease in a large European cohort.
Hampe, J. and Schreiber, S. and Shaw, S.H. and Lau, K.F. and Bridger, S. and Macpherson, A.J. and Cardon, L.R. and Sakul, H. and Harris, T.J. and Buckler, A. and Hall, J. and Stokkers, P. and van Deventer, S.J. and Nuernberg, P. and Mirza, M.M. and Lee, J.C. and Lennard-Jones, J.E. and Mathew, C.G. and Curran, M.E.
American Journal of Human Genetics 64 (3): 808-816. March 1999

Limb mammary syndrome: A new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27.
van Bokhoven, H. and Jung, M. and Smits, A.P.T. and van Beersum, S. and Rueschendorf, F. and van Steensel, M. and Veenstra, M. and Tuerlings, J.H.A.M. and Mariman, E.C.M. and Brunner, H.G. and Wienker, T.F. and Reis, A. and Ropers, H.H. and Hamel, B.C.J.
American Journal of Human Genetics 64 (2): 538-546. February 1999

Hereditary isolated renal magnesium loss maps to chromosome 11q23.
Meij, I.C. and Saar, K. and van den Heuvel, L.P.W.J. and Nuernberg, G. and Vollmer, M. and Hildebrandt, F. and Reis, A. and Monnens, L.A.H. and Knoers, N.V.A.M.
American Journal of Human Genetics 64 : 180-188. 1 January 1999

The gene for human fibronectin glomerulopathy maps to 1q32, in the region of the regulation of complement activation gene cluster.
Vollmer, M. and Jung, M. and Rueschendorf, F. and Ruf, R. and Wienker, T.F. and Reis, A. and Krapf, R. and Hildebrandt, F.
American Journal of Human Genetics 63 (6): 1724-1731. December 1998

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: Implications for imprint-switch models, genetic counseling, and prenatal diagnosis.
Buiting, K. and Dittrich, B. and Gross, S. and Lich, C. and Faerber, C. and Buchholz, T. and Smith, E. and Reis, A. and Buerger, J. and Noethen, M.M. and Barth-Witte, U. and Janssen, B. and Abeliovich, D. and Lerer, I. and van den Ouweland, A.M.W. and Halley, D.J.J. and Schrander-Stumpel, C. and Smeets, H. and Meinecke, P. and Malcolm, S. and Gardner, A. and Lalande, M. and Nicholls, R.D. and Friend, K. and Schulze, A. and Matthijs, G. and Kokkonen, H. and Hilbert, P. and Van Maldergem, L. and Glover, G. and Carbonell, P. and Willems, P. and Gillessen-Kaesbach, G. and Horsthemke, B.
American Journal of Human Genetics 63 (1): 170-180. July 1998

Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis.
Hennies, H.C. and Kuester, W. and Wiebe, V. and Krebsova, A. and Reis, A.
American Journal of Human Genetics 62 (5): 1052-1061. May 1998

Gene localization for an autosomal dominant familial periodic fever to 12p13.
Mulley, J. and Saar, K. and Hewitt, G. and Rueschendorf, F. and Phillips, H. and Colley, A. and Sillence, D. and Reis, A. and Wilson, M.
American Journal of Human Genetics 62 (4): 884-889. April 1998

Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families.
Ford, D. and Easton, D.F. and Stratton, M. and Narod, S. and Goldgar, D. and Devilee, P. and Bishop, D.T. and Weber, B. and Lenoir, G. and Chang-Claude, J. and Sobol, H. and Teare, M.D. and Struewing, J. and Arason, A. and Scherneck, S. and Peto, J. and Rebbeck, T.R. and Tonin, P. and Neuhausen, S. and Barkardottir, R. and Eyfjord, J. and Lynch, H. and Ponder, B.A.J. and Gayther, S.A. and Birch, J.M. and Lindblom, A. and Stoppa-Lyonnet, D. and Bignon, Y. and Borg, A. and Hamann, U. and Haites, N. and Scott, R.J. and Maugard, C.M. and Vasen, H. and Seitz, S. and Cannon-Albright, L.A. and Schofield, A. and Zelada-Hedman, M.
American Journal of Human Genetics 62 (3): 676-689. March 1998

Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors.
Hoffmeyer, S. and Nuernberg, P. and Ritter, H. and Fahsold, R. and Leistner, W. and Kaufmann, D. and Krone, W.
American Journal of Human Genetics 62 (2): 269-277. 6 February 1998

The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone receptor gene.
Nuernberg, P. and Tinschert, S. and Mrug, M. and Hampe, J. and Mueller, C.R. and Fuhrmann, E. and Braun, H.S. and Reis, A.
American Journal of Human Genetics 61 (4): 918-923. October 1997

Localization of the gene causing keratolytic winter erythema to chromosome 8p22-p23, and evidence for a founder effect in south african afrikaans-speakers.
Starfield, M. and Hennies, H.C. and Jung, M. and Jenkins, T. and Wienker, T.F. and Hull, P. and Spurdle, A. and Kuester, W. and Ramsay, M. and Reis, A.
American Journal of Human Genetics 61 (2): 370-378. August 1997

Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.
Buerger, J. and Buiting, K. and Dittrich, B. and Gross, S. and Lich, C. and Sperling, K. and Horsthemke, B. and Reis, A.
American Journal of Human Genetics 61 (1): 88-93. July 1997

The gene for the ataxia telangiectasia variant, nijmegen breakage syndrome, maps to a 1 cm interval on chromosome 8q21.
Saar, K. and Chrzanowska, K.H. and Stumm, M. and Jung, M. and Nuernberg, G. and Wienker, T.F. and Seemanova, E. and Wegner, R.D. and Reis, A. and Sperling, K.
American Journal of Human Genetics 60 (3): 605-610. March 1997

Analysis of genetic linkage and somatic loss of heterozygosity in affected pairs of first-degree relatives.
Rohde, K. and Teare, M.D. and Koref, M.S.
American Journal of Human Genetics 61 : 418-422. 1 January 1997

Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.
Meyer-Kleine, C. and Steinmeyer, K. and Ricker, K. and Jentsch, T.J. and Koch, M.C.
American Journal of Human Genetics 57 (6): 1325-1334. December 1995

Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus.
Bichet, D.G. and Birnbaumer, M. and Lonergan, M. and Arthus, M.F. and Rosenthal, W. and Goodyer, P. and Nivet, H. and Benoit, S. and Giampietro, P. and Simonetti, S. and Fish, A. and Whitley, C.B. and Jaeger, P. and Gertner, J. and New, M. and DiBona, F.J. and Kaplan, B.S. and Robertson, G.L. and Hendy, G.N. and Fujiwara, T.M. and Morgan, K.
American Journal of Human Genetics 55 (2): 278-286. August 1994

Detection of a major gene for heterocellular hereditary persistence of fetal hemoglobin after accounting for genetic modifiers.
Thein, S.L. and Sampietro, M. and Rohde, K. and Rochette, J. and Weatherall, D.J. and Lathrop, G.M. and Demenais, F.
American Journal of Human Genetics 54 (2): 214-228. February 1994

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.
Reis, A. and Dittrich, B. and Greger, V. and Buiting, K. and Lalande, M. and Gillessen-Kaesbach, G. and Anvret, M. and Horsthemke, B.
American Journal of Human Genetics 54 : 741-747. 1 January 1994

Independent origin of identical cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy.
Watkins, H. and Thierfelder, L.H. and Anan, R. and Jarcho, J. and Matsumori, A. and McKenna, W. and Seidman, J.G. and Seidman, C.E.
American Journal of Human Genetics 53 (6): 1180-1185. December 1993

Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families.
Easton, D. and Bishop, D.T. and Ford, D. and Crockford, G.P. and Scherneck, S. and Zimmerman, W.
American Journal of Human Genetics 52 (4): 678-701. April 1993

Polymorphic haplotypes and recombination rates at the LDL receptor gene locus in subjects with and without familial hypercholesterolemia who are from different populations.
Miserez, A.R. and Schuster, H. and Chiodetti, N. and Keller, U.
American Journal of Human Genetics 52 (4): 808-826. April 1993

Linkage analysis in German breast cancer families with early onset of the disease, using highly polymorphic markers from the chromosome 17q11-q24 region.
Zimmermann, W. and Bender, E. and Rohde, K. and Reis, A. and Wiseman, R. and Futreal, A. and Krause, H. and Prokoph, H. and Werner, S. and Scherneck, S.
American Journal of Human Genetics 52 (4): 789-791. April 1993

Structure and chromosomal localization of the human antidiuretic hormone receptor gene.
Seibold, A. and Brabet, P. and Rosenthal, W. and Birnbaumer, M.
American Journal of Human Genetics 51 (5): 1078-1083. November 1992

Letter

A gene for an autosomal dominant scleroatrophic syndrome predisposing to skin cancer (Huriez Syndrome) maps to chromosome 4q23.
Lee, Y.A. and Stevens, H.P. and Delaporte, E. and Wahn, U. and Reis, A.
American Journal of Human Genetics 66 : 326-330. 1 January 2000

Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form is linked to chromosome 11q13-q21.
Grohmann, K. and Wienker, T.F. and Saar, K. and Rudnik-Schoeneborn, S. and Stoltenburg-Didinger, G. and Rossi, R. and Novelli, G. and Nuernberg, G. and Pfeufer, A. and Wirth, B. and Reis, A. and Zerres, K. and Huebner, C.
American Journal of Human Genetics 65 : 1459-1462. 1 November 1999

Deletion at 12p in a japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a turkish family.
Bähring, S. and Nagai, T. and Toka, H.R. and Nitz, I. and Toka, O. and Aydin, A. and Muhl, A. and Wienker, T.F. and Schuster, H. and Luft, F.C.
American Journal of Human Genetics 60 : 732-735. 1 January 1997

The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1.
Stumm, M. and Gatti, R.A. and Reis, A. and Udar, N. and Chrzanowska, K. and Seemanova, E. and Sperling, K. and Wegner, R.D.
American Journal of Human Genetics 57 (4): 960-962. October 1995