Browse by Journal Title

2024

Evaluation of polygenic scoring methods in five biobanks shows larger variation between biobanks than methods and finds benefits of ensemble learning.
Monti, R., Eick, L., Hudjashov, G., Läll, K., Kanoni, S., Wolford, B.N., Wingfield, B., Pain, O., Wharrie, S., Jermy, B., McMahon, A., Hartonen, T., Heyne, H., Mars, N., Lambert, S., Hveem, K., Inouye, M., van Heel, D.A., Mägi, R., Marttinen, P., Ripatti, S., Ganna, A. and Lippert, C.
American Journal of Human Genetics 111 (7): 1431-1447. 11 July 2024

2023

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

2022

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

2021

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Duncan, A.R., Polovitskaya, M.M., Gaitán-Peñas, H., Bertelli, S., VanNoy, G.E., Grant, P.E., O'Donnell-Luria, A., Valivullah, Z., Lovgren, A.K., England, E.M., Agolini, E., Madden, J.A., Schmitz-Abe, K., Kritzer, A., Hawley, P., Novelli, A., Alfieri, P., Colafati, G.S., Wieczorek, D., Platzer, K., Luppe, J., Koch-Hogrebe, M., Abou Jamra, R., Neira-Fresneda, J., Lehman, A., Boerkoel, C.F., Seath, K., Clarke, L., van Ierland, Y., Argilli, E., Sherr, E.H., Maiorana, A., Diel, T., Hempel, M., Bierhals, T., Estévez, R., Jentsch, T.J., 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., Majmundar, A.J., Khan, K., Lim, T.Y., Shril, S., Jin, G., Musgrove, J., Wang, M., Ahram, D.F., Aggarwal, V.S., Bier, L.E., Heinzen, E.L., Onuchic-Whitford, A.C., Mann, N., Buerger, F., Schneider, R., Deutsch, K., Kitzler, T.M., Klämbt, V., Kolb, A., Mao, Y., Moufawad El Achkar, C., Mitrotti, A., Martino, J., Beck, B.B., Altmüller, J., Benz, M.R., Yano, S., Mikati, M.A., Gunduz, T., Cope, H., Shashi, V., Trachtman, H., Bodria, M., Caridi, G., Pisani, I., Fiaccadori, E., AbuMaziad, A.S., Martinez-Agosto, J.A., Yadin, O., Zuckerman, J., Kim, A., John-Kroegel, U., Tyndall, A.V., Parboosingh, J.S., Innes, A.M., Bierzynska, A., Koziell, A.B., Muorah, M., Saleem, M.A., Hoefele, J., Riedhammer, K.M., Gharavi, A.G., Jobanputra, V., Pierce-Hoffman, E., Seaby, E.G., O'Donnell-Luria, A., Rehm, H.L., Mane, S., D'Agati, V.D., Pollak, M.R., Ghiggeri, G.M., Lifton, R.P., Goldstein, D.B., Davis, E.E., Hildebrandt, F. and Sanna-Cherchi, S.
American Journal of Human Genetics 108 (2): 357-367. 4 February 2021

2020

A recurrent gain-of-function mutation in CLCN6, encoding the ClC-6 Cl-/H+-exchanger, causes early-onset neurodegeneration.
Polovitskaya, M.M., Barbini, C., Martinelli, D., Harms, F.L., Cole, F.S., Calligari, P., Bocchinfuso, G., Stella, L., Ciolfi, A., Niceta, M., Rizza, T., Shinawi, M., Sisco, K., Johannsen, J., Denecke, J., Carrozzo, R., Wegner, D.J., Kutsche, K., 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., Humbatova, A., Liu, Y., Qin, W., Lee, M., Cesarato, N., Kortüm, F., Kumar, S., Romano, M.T., Dai, S., Mo, R., Sivalingam, S., Motameny, S., Wu, Y., Wang, X., Niu, X., Geng, S., Bornholdt, D., Kroisel, P.M., Tadini, G., Walter, S.D., Hauck, F., Girisha, K.M., Calza, A.M., Bottani, A., Altmüller, J., Buness, A., Yang, S., Sun, X., Ma, L., Kutsche, K., Grzeschik, K.H., Betz, R.C. and Lin, Z.
American Journal of Human Genetics 107 (1): 34-45. 2 July 2020

2019

De novo mutations in FOXJ1 result in a motile ciliopathy with hydrocephalus and randomization of left/right body asymmetry.
Wallmeier, J., Frank, D., Shoemark, A., Nöthe-Menchen, T., Cindric, S., Olbrich, H., Loges, N.T., Aprea, I., Dougherty, G.W., Pennekamp, P., Kaiser, T., Mitchison, H.M., Hogg, C., Carr, S.B., Zariwala, M.A., Ferkol, T., Leigh, M.W., Davis, S.D., Atkinson, J., Dutcher, S.K., Knowles, M.R., Thiele, H., Altmüller, J., Krenz, H., Wöste, M., Brentrup, A., Ahrens, F., Vogelberg, C., 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., Yamamoto, G.L., Garbes, L., Keupp, K., Beleza-Meireles, A., Moreno, C.A., Valadares, E.R., de Sousa, S.B., Maia, S., Saraiva, J., Honjo, R.S., Kim, C.A., Cabral de Menezes, H., Lausch, E., Lorini, P.V., Lamounier, A., Carniero, T.C.B., Giunta, C., Rohrbach, M., Janner, M., Semler, O., Beleggia, F., Li, Y., Yigit, G., Reintjes, N., Altmüller, J., Nürnberg, P., Cavalcanti, D.P., Zabel, B., Warman, M.L., Bertola, D.R., 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., Nguyen, T.T.M., Baratang, N., Raju, P.K., Knaus, A., Ellard, S., Jones, G., Lace, B., Rousseau, J., Ajeawung, N.F., Kamei, A., Minase, G., Akasaka, M., Araya, N., Koshimizu, E., van den Ende, J., Erger, F., Altmüller, J., Krumina, Z., Strautmanis, J., Inashkina, I., Stavusis, J., El-Gharbawy, A., Sebastian, J., Puri, R.D., Kulshrestha, S., Verma, I.C., Maier, E.M., Haack, T.B., Israni, A., Baptista, J., Gunning, A., Rosenfeld, J.A, Liu, P., Joosten, M., Rocha, M.E., Hashem, M.O., Aldhalaan, H.M., Alkuraya, F.S., Miyatake, S., Matsumoto, N., Krawitz, P.M., Rossignol, E., 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., Schneeberger, P.E., Kortüm, F., Altmüller, J., Santos-Simarro, F., Baker, L., Keller-Ramey, J., White, S.M., Campeau, P.M., 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., Dworschak, G.C., Frese, S., Japp, A.S., Schuster, P., Wenzlitschke, N., Yilmaz, Ö., Lopes, F.M., Pryalukhin, A., Schierbaum, L., van der Zanden, L.F.M., Kause, F., Schneider, R., Taranta-Janusz, K., Szczepańska, M., Pawlaczyk, K., Newman, W.G., Beaman, G.M., Stuart, H.M., Cervellione, R.M., Feitz, W.F.J., van Rooij, I.A.L.M., Schreuder, M.F., Steffens, M., Weber, S., Merz, W.M., Feldkötter, M., Hoppe, B., Thiele, H., Altmüller, J., Berg, C., Kristiansen, G., Ludwig, M., Reutter, H., Woolf, A.S., Hildebrandt, F., Grote, P., Zaniew, M., 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., Rustad, C.F., Riess, A., Đukić, D., Hsieh, T.C., Jobani, I., Prescott, T., Bevot, A., Erger, F., Houge, G., Redfors, M., Altmueller, J., Stokowy, T., Gilissen, C., Kubisch, C., Scarano, E., Mazzanti, L., Fiskerstrand, T., Krawitz, P.M., Lessel, D. and Netzer, C.
American Journal of Human Genetics 104 (4): 749-757. 4 April 2019

2018

The genetic ancestry of modern Indus Valley populations from Northwest India.
Pathak, A.K., Kadian, A., Kushniarevich, A., Montinaro, F., Mondal, M., Ongaro, L., Singh, M., Kumar, P., Rai, N., Parik, J., Metspalu, E., Rootsi, S., Pagani, L., Kivisild, T., Metspalu, M., 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., Verboon, J.M., Kazerounian, S., Guo, M.H., Yuan, D., Ludwig, L.S., Handsaker, R.E., Abdulhay, N.J., Fiorini, C., Genovese, G., Lim, E.T., Cheng, A., Cummings, B.B., Chao, K.R., Beggs, A.H., Genetti, C.A., Sieff, C.A., Newburger, P.E., Niewiadomska, E., Matysiak, M., Vlachos, A., Lipton, J.M., Atsidaftos, E., Glader, B., Narla, A., Gleizes, P.E., O'Donohue, M.F., Montel-Lehry, N., Amor, D.J., McCarroll, S.A., O'Donnell-Luria, A.H., Gupta, N., Gabriel, S.B., MacArthur, D.G., Lander, E.S., Lek, M., Da Costa, L., Nathan, D.G., Korostelev, A.A., Do, R., 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., Tafazzoli, A., Mattern, M., Sivalingam, S., Wolf, S., Rupp, A., Thiele, H., Altmüller, J., Nürnberg, P., Ellwanger, J., Gambon, R., Baumer, Al., Kohlschmidt, N., Metze, D., Holdenrieder, S., Paus, R., Lütjohann, D., Frank, J., Geyer, M., Bertolini, M., 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., Bandulik, S., Mammen, C., Tarailo-Graovac, M., Holm, R., Baumann, M., König, J., Lee, J.J.Y., Drögemöller, B., Imminger, K., Beck, B.B., Altmüller, J., Thiele, H., Waldegger, S., Van't Hoff, W., Kleta, R., Warth, R., van Karnebeek, C.D.M., Vilsen, B., 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., Becker, K., Huang, H., Dixon-Salazar, T., Chai, G., Salpietro, V., Al-Gazali, L., Waisfisz, Q., Wang, H., Vaux, K.K., Stanley, V., Manole, A., Akpulat, U., Weiss, M.M., Efthymiou, S., Hanna, M.G., Minetti, C., Striano, P., Pisciotta, L., De Grandis, E., Altmüller, J., Weixler, L., Nürnberg, P., Thiele, H., Yis, U., Okur, T.D., Polat, A.I., Amiri, N., Doosti, M., Karimani, E.G., Toosi, M.B., Haddad, G., Karakaya, M., Wirth, B., van Hagen, J.M., Wolf, N.I., Maroofian, R., Houlden, H., 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., Sarlós, K., Logan, C.V., Thakur, R.S., Parry, D.A., Bizard, A.H., Leitch, A., Cleal, L., Ali, N.S., Al-Owain, M.A., Allen, W., Altmüller, J., Aza-Carmona, M., Barakat, B.A.Y., Barraza-García, J., Begtrup, A., Bogliolo, M., Cho, M.T., Cruz-Rojo, J., Dhahrabi, H.A.M., Elcioglu, N.H., Gorman, G.S., Jobling, R., Kesterton, I., Kishita, Y., Kohda, M., Le Quesne Stabej, P., Malallah, A.J., Nürnberg, P., Ohtake, A., Okazaki, Y., Pujol, R., Ramirez, M.J., Revah-Politi, A., Shimura, M., Stevens, P., Taylor, R.W., Turner, L., Williams, H., Wilson, C., Yigit, G., Zahavich, L., Alkuraya, F.S., Surralles, J., Iglesias, A., Murayama, K., Wollnik, B., Dattani, M., Heath, K.E., 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., Vergarajauregui, S., Endele, S., Popp, B., Büttner, C., Ekici, A.B., Gerard, M., Bramswig, N.C., Albrecht, B., Clayton-Smith, J., Morton, J., Tomkins, S., Low, K., Weber, A., Wenzel, M., Altmüller, J., Li, Y., Wollnik, B., Hoganson, G., Plona, M.R., Cho, M.T., Thiel, C.T., Lüdecke, H.J., Strom, T.M., Calpena, E., Wilkie, A.O.M., Wieczorek, D., Engel, F.B. and Reis, A.
American Journal of Human Genetics 102 (3): 468-479. 1 March 2018

2017

De novo mutations in SLC25A24 cause a craniosynostosis syndrome with hypertrichosis, progeroid appearance, and mitochondrial dysfunction.
Ehmke, N., Graul-Neumann, L., Smorag, L., Koenig, R., Segebrecht, L., Magoulas, P., Scaglia, F., Kilic, E., Hennig, A.F., Adolphs, N., Saha, N., Fauler, B., Kalscheuer, V.M., Hennig, F., Altmüller, J., Netzer, C., Thiele, H., Nürnberg, P., Yigit, G., Jäger, M., Hecht, J., Krüger, U., Mielke, T., Krawitz, P.M., Horn, D., Schuelke, M., Mundlos, S., Bacino, C.A., Bonnen, P.E., Wollnik, B., 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., Kirkness, E.F., Lippert, C., Biggs, W.H., Fabani, M., Guzman, E., Ramakrishnan, S., Lavrenko, V., Kakaradov, B., Hou, C., Hicks, B., Heckerman, D., Och, F.J., Caskey, C.T., 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., Piard, J., Bonnard, C., Alfadhel, M., Lim, S., Bisteau, X., Blouin, S., Ali, N.A.B., Ng, A.Y.J., Lu, H., Tohari, S., Talib, S.Z.A., van Hul, N., Caldez, M.J., Van Maldergem, L., Yigit, G., Kayserili, H., Youssef, S.A., Coppola, V., de Bruin, A., Tessarollo, L., Choi, H., Rupp, V., Roetzer, K., Roschger, P., Klaushofer, K., Altmüller, J., Roy, S., Venkatesh, B., Ganger, R., Grill, F., Ben Chehida, F., Wollnik, B., Altunoglu, U., Al Kaissi, A., Reversade, B. and Kaldis, P.
American Journal of Human Genetics 101 (3): 391-403. 7 September 2017

2016

Exome sequencing identifies biallelic MSH3 germline mutations as a recessive subtype of colorectal adenomatous polyposis.
Adam, R., Spier, I., Zhao, B., Kloth, M., Marquez, J., Hinrichsen, I., Kirfel, J., Tafazzoli, A., Horpaopan, S., Uhlhaas, S., Stienen, D., Friedrichs, N., Altmüller, J., Laner, A., Holzapfel, S., Peters, S., Kayser, K., Thiele, H., Holinski-Feder, E., Marra, G., Kristiansen, G., Nöthen, M.M., Büttner, R., Möslein, G., Betz, R.C., Brieger, A., 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., Shiratori, H., Dougherty, G.W., Edelbusch, C., Hjeij, R., Loges, N.T., Menchen, T., Olbrich, H., Pennekamp, P., Raidt, J., Werner, C., Minegishi, K., Shinohara, K., Asai, Y., Takaoka, K., Lee, C., Griese, M., Memari, Y., Durbin, R., Kolb-Kokocinski, A., Sauer, S., Wallingford, J.B., 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., Distelmaier, F., Alhaddad, B., Hempel, M., Iuso, A., Küpper, C., Mühlhausen, C., Kovacs-Nagy, R., Satanovskij, R., Graf, E., Berutti, R., Eckstein, G., Durbin, R., Sauer, S., Hoffmann, G.F., Strom, T.M., Santer, R., Meitinger, T., Klopstock, T., Prokisch, H. and Haack, T.B.
American Journal of Human Genetics 98 (2): 358-362. 4 February 2016

2015

Loss-of-function GAS8 mutations cause primary ciliary dyskinesia and disrupt the nexin-dynein regulatory complex.
Olbrich, H., Cremers, C., Loges, N.T., Werner, C., Nielsen, K.G., Marthin, J.K., Philipsen, M., Wallmeier, J., Pennekamp, P., Menchen, T., Edelbusch, C., Dougherty, G.W., Schwartz, O., Thiele, H., Altmüller, J., 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, Kleppa, M.J., Schulz, J., Kohl, S., Sharma, A., Chen, J., Shril, S., Hwang, D.Y., Weiss, A.C., Kaminski, M.M., Shukrun, R., Kemper, M.J., Lehnhardt, A., Beetz, R., Sanna-Cherchi, S., Verbitsky, M., Gharavi, A.G., Stuart, H.M., Feather, S.A., Goodship, J.A., Goodship, T.H.J., Woolf, A.S., Westra, S.J., Doody, D.P., Bauer, S.B., Lee, R.S., Adam, R.M., Lu, W., Reutter, H.M., Kehinde, E.O., Mancini, E.J., Lifton, R.P., Tasic, V., Lienkamp, S.S., Jüppner, H., 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., Hotze, M., Brand, S., Büning, C., Cormican, P., Corvin, A., Ellinghaus, D., Ellinghaus, E., Esparza-Gordillo, J., Fölster-Holst, R., Franke, A., Gieger, C., Hubner, N., Illig, T., Irvine, A.D., Kabesch, M., Lee, Y.A.E., Lieb, W., Marenholz, I., McLean, W.H.I., Morris, D.W., Mrowietz, U., Nair, R., Nöthen, M.M., Novak, N., O'Regan, G.M., Schreiber, S., Smith, C., Strauch, K., Stuart, P.E., Trembath, R., Tsoi, L.C., Weichenthal, M., Barker, J., Elder, J.T., Weidinger, S., Cordell, H.J. and Brown, S.J.
American Journal of Human Genetics 96 (1): 104-120. 8 January 2015

2014

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
Ehmke, N., Caliebe, A., Koenig, R., Kant, S.G., Stark, Z., Cormier-Daire, V., Wieczorek, D., Gillessen-Kaesbach, G., Hoff, K., Kawalia, A., Thiele, H., Altmüller, J., Fischer-Zirnsak, B., Knaus, A., Zhu, N., Heinrich, V., Huber, C., Harabula, I., Spielmann, M., Horn, D., Kornak, U., Hecht, J., Krawitz, P.M., Nürnberg, P., Siebert, R., 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., Battaglia, A., Szczepanski, S., Kaygusuz, E., Toliat, M.R., Sakakibara, S., Altmüller, J., Thiele, H., Nürnberg, G., Moosa, S., Yigit, G., Beleggia, F., Tinschert, S., Clayton-Smith, J., Vasudevan, P., Urquhart, J.E., Donnai, D., Fryer, A., Percin, F., Brancati, F., Dobbie, A., Smigiel, R., Gillessen-Kaesbach, G., Wollnik, B., Noegel, A.A., 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., Manickaraj, A.K., Mercer, C.L., Gerety, S.S., Hitz, M.P., Lindsay, S., D'Alessandro, L.C.A., Swaminathan, G.J., Bentham, J., Arndt, A.K., Low, J., Breckpot, J., Gewillig, M., Thienpont, B., Abdul-Khaliq, H., Harnack, C., Hoff, K., Kramer, H.H., Schubert, S., Siebert, R., Toka, O., Cosgrove, C., Watkins, H., Lucassen, A.M., O'Kelly, I.M., Salmon, A.P., Bu'Lock, F.A., Granados-Riveron, J., Setchfield, K., Thornborough, C., Brook, J.D., Mulder, B., Klaassen, S., Bhattacharya, S., Devriendt, K., Fitzpatrick, D.F., Wilson, D.I., Mital, S. and Hurles, M.E.
American Journal of Human Genetics 94 (4): 574-585. 3 April 2014

Mutations in POGLUT1, encoding protein o-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.
Basmanav, F.B., Oprisoreanu, A.M., Pasternack, S.M., Thiele, H., Fritz, G., Wenzel, J., Größer, L., Wehner, M., Wolf, S., Fagerberg, C., Bygum, A., Altmüller, J., Rütten, A., Parmentier, L., El Shabrawi-Caelen, L., Hafner, C., Nürnberg, P., Kruse, R., Schoch, S., Hanneken, S. and Betz, R.C.
American Journal of Human Genetics 94 (1): 135-143. 2 January 2014

2013

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
Koehler, K., Malik, M., Mahmood, S., Gießelmann, S., Beetz, C., Hennings, J.C., Huebner, A.K., Grahn, A., Reunert, J., Nürnberg, G., Thiele, H., Altmüller, J., Nürnberg, P., Mumtaz, R., Babovic-Vuksanovic, D., Basel-Vanagaite, L., Borck, G., Brämswig, J., Mühlenberg, R., Sarda, P., Sikiric, A., Anyane-Yeboa, K., Zeharia, A., Ahmad, A., Coubes, C., Wada, Y., Marquardt, T., Vanderschaeghe, D., Van Schaftingen, E., Kurth, I., Huebner, A. and Hübner, C.A.
American Journal of Human Genetics 93 (4): 727-734. 3 October 2013

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

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
Bögershausen, N., Shahrzad, N., Chong, J.X., von Kleist-Retzow, J.C., Stanga, D., Li, Y., Bernier, F.P., Loucks, C.M., Wirth, R., Puffenberger, E.G., Hegele, R.A., Schreml, J., Lapointe, G., Keupp, K., Brett, C.L., Anderson, R., Hahn, A., Innes, A.M., Suchowersky, O., Mets, M.B., Nürnberg, G., McLeod, D.R., Thiele, H., Waggoner, D., Altmüller, J., Boycott, K.M., Schoser, B., Nürnberg, P., Ober, C., Heller, R., Parboosingh, J.S., Wollnik, B., Sacher, M. and Lamont, R.E.
American Journal of Human Genetics 93 (1): 181-190. 11 July 2013

2012

Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity.
Lopez-Herrera, G., Tampella, G., Pan-Hammarström, Q., Herholz, P., Trujillo-Vargas, C.M., Phadwal, K., Simon, A.K., Moutschen, M., Etzioni, A., Mory, A., Srugo, I., Melamed, D., Hultenby, K., Liu, C., Baronio, M., Vitali, M., Philippet, P., Dideberg, V., Aghamohammadi, A., Rezaei, N., Enright, V., Du, L., Salzer, U., Eibel, H., Pfeifer, D., Veelken, H., Stauss, H., Lougaris, V., Plebani, A., Gertz, E.M., Schäffer, A.A., Hammarström, L. and Grimbacher, B.
American Journal of Human Genetics 90 (6): 986-1001. 8 June 2012

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

2011

ST3GAL3 mutations impair the development of higher cognitive functions.
Hu, H., Eggers, K., Chen, W., Garshasbi, M., Motazacker, M.M., Wrogemann, K., Kahrizi, K., Tzschach, A., Hosseini, M., Bahman, I., Hucho, T., Muehlenhoff, M., Gerardy-Schahn, R., Najmabadi, H., 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., Lainez, S., Will, C., Terryn, S., Guenzel, D., Debaix, H., Sommer, K., Kopplin, K., Thumfart, J., Kampik, N.B., Querfeld, U., Willnow, T.E., Nemec, V., Wagner, C.A., Hoenderop, J.G., Devuyst, O., Knoers, N.V., Bindels, R.J., Meij, I.C. and Mueller, D.
American Journal of Human Genetics 88 (3): 333-343. 11 March 2011

2010

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

2009

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
Gueneau, L., Bertrand, A.T., Jais, J.P., Salih, M.A., Stojkovic, T., Wehnert, M., Hoeltzenbein, M., Spuler, S., Saitoh, S., Verschueren, A., Tranchant, C., Beuvin, M., Lacene, E., Romero, N.B., Heath, S., Zelenika, D., Voit, T., Eymard, B., 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., Mueller, T., Krabichler, B., Schranz, M., Becker, C., Rueschendorf, F., Nuernberg, P., Rossier, B., Vujic, M., Booth, I.W., Holmberg, C., Wijmenga, C., Grigelioniene, G., Kneepkens, C.M., Rosipal, S., Mistrik, M., Kappler, M., Michaud, L., Doczy, L.C., Siu, V.M., Krantz, M., Zoller, H., Utermann, G. and Janecke, A.R.
American Journal of Human Genetics 84 (2): 188-196. 13 February 2009

2008

PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption.
Decker, E., Stellzig-Eisenhauer, A., Fiebig, B.S., Rau, C., Kress, W., Saar, K., Rueschendorf, F., Huebner, N., 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., Hodgkinson, K.A., Haywood, A.F., Connors, S., French, V.M., Drenckhahn, J.D., Kupprion, C., Ramadanova, K., Thierfelder, L., McKenna, W., Gallagher, B., Morris-Larkin, L., Bassett, A.S., 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., Lao, O., Saar, K., Brauer, S., Wang, X., Nuernberg, P., Trent, R.J. and Stoneking, M.
American Journal of Human Genetics 82 (1): 194-198. 10 January 2008

2007

A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.
Motazacker, M.M., Rost, B.R., Hucho, T., Garshasbi, M., Kahrizi, K., Ullmann, R., Abedini, S.S., Nieh, S.E., Amini, S.H., Goswami, C., Tzschach, A., Jensen, L.R., Schmitz, D., Ropers, H.H., 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., Sun, Y., Michaud, S., Zheng, Y., Ligon, K.L., Ligon, A.H., Sander, T., Korf, B.R., Lu, W., Harris, D.J., Gusella, J.F., Maas, R.L., Quade, B.J., Cole, A.J., 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., Caridi, G., Weng, P.L., Dagnino, M., Seri, M., Konka, A., Somenzi, D., Carrea, A., Izzi, C., Casu, D., Allegri, L., Schmidt-Ott, K.M., Barasch, J., Scolari, F., Ravazzolo, R., Ghiggeri, G.M. and Gharavi, A.G.
American Journal of Human Genetics 80 (3): 539-549. March 2007

2006

Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.
Bergmann, C., Senderek, J., Anhuf, D., Thiel, C.T., Ekici, A.B., Poblete-Gutierrez, P., van Steensel, M., Seelow, D., Nuernberg, G., Schild, H.H., Nuernberg, P., Reis, A., 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., Martin, L., Hennies, H.C., Mueller, F., Van Driessche, K., Karpushova, A., Stevens, W., Colombo, R., Renne, T., Drouet, C., 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., Grabowska, A., Merida-Long, L.B., Latawiec, E., Schneider, H.E., Lipton, J.M., Vlachos, A., Atsidaftos, E., Ball, S.E., Orfali, K.A., Niewiadomska, E., Da Costa, L., Tchernia, G., Niemeyer, C., Meerpohl, J.J., Stahl, J., Schratt, G., Glader, B., Backer, K., Wong, C., Nathan, D.G., 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., Plovie, E.R., Ellinor, P.T., Grossmann, K.S., Shin, J.T., Wichter, T., Basson, C.T., Lerman, B.B., Sasse-Klaassen, S., Thierfelder, L., 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., Schaller, A., Seelow, D., Pandey, A.V., Waldegger, S., Lesslauer, A., Vitzthum, H., Suzuki, Y., Luk, J.M., Becker, C., Schlingmann, K.P., Schmid, M., Rodriguez-Soriano, J., Ariceta, G., Cano, F., Enriquez, R., Jueppner, H., Bakkaloglu, S.A., Hediger, M.A., Gallati, S., Neuhauss, S.C.F., 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., Gong, M., Schulz, H., Rüschendorf, F., Stein, A., Pfeiffer, C., Ballarini, A., Gahr, M., 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., Itin, P., Ishida-Yamamoto, A., Holland, K., Huson, S., Geiger, D., Hennies, H.C., Indelman, M., Bercovich, D., Uitto, J., Bergman, R., McGrath, J.A., Richard, G. and Sprecher, E.
American Journal of Human Genetics 79 (4): 724-730. October 2006

2005

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., Kaneva, R., Jamra, R.A., Diaz, G.O., Ohlraun, S., Milanova, V., Lee, Y.A., Rivas, F., Mayoral, F., Fuerst, R., Flaquer, A., Windemuth, C., Gay, E., Sanz, S., Gonzalez, M.J., Gil, S., Cabaleiro, F., del Rio, F., Perez, F., Haro, J., Kostov, C., Chorbov, V., Nikolova-Hill, A., Stoyanova, V., Onchev, G., Kremensky, I., Strauch, K., Schulze, T.G., Nuernberg, P., Gaebel, W., Klimke, A., Auburger, G., Wienker, T.F., Kalaydjieva, L., Propping, P., Cichon, S., Jablensky, A., 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., Horn, D., Zabel, B., Ekici, A.B., Salinas, K., Gebhart, E., Rueschendorf, F., Sticht, H., Spranger, J., Mueller, D., Zweier, C., Schmitt, M.E., 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., Hanneken, S., Ritzmann, S., Becker, T., Freudenberg, J., Brockschmidt, F.F., Flaquer, A., Freudenberg-Hua, Y., Jamra, R.A., Metzen, C., Heyn, U., Schweiger, N., Betz, R.C., Blaumeiser, B., Hampe, J., Schreiber, S., Schulze, T.G., Hennies, H.C., Schumacher, J., Propping, P., Ruzicka, T., Cichon, S., Wienker, T.F., Kruse, R. and Noethen, M.M.
American Journal of Human Genetics 77 (1): 140-148. July 2005

2004

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.
Uhlenberg, B., Schuelke, M., Rueschendorf, F., Ruf, N., Kaindl, A.M., Henneke, M., Thiele, H., Stoltenburg-Didinger, G., Aksu, F., Topaloglu, H., Nuernberg, P., Huebner, C., 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., Rauch, A., Seifert, W., Schumi, C., Moser, E., Al-Taji, E., Tariverdian, G., Chrzanowska, K.H., Krajewska-Walasek, M., Rajab, A., Giugliani, R., Neumann, T.E., Eckl, K.M., Karbasiyan, M., 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., Snoeckx, R., Pfister, M., Zenner, H.P., Blin, N., Di Stazio, M., Ferrara, A., Lanzara, C., Ficarella, R., Declau, F., Pusch, C.M., Nuernberg, P., Melchionda, S., Zelante, L., Ballana, E., Estivill, X., Van Camp, G., Gasparini, P. and Savoia, A.
American Journal of Human Genetics 74 (4): 770-776. April 2004

2002

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.
Otto, E., Hoefele, J., Ruf, R., Mueller, A.M., Hiller, K.S., Wolf, M.T.F., Schuermann, M.J., Becker, A., Birkenhaeger, R., Sudbrak, R., Hennies, H.C., 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., Otto, E., Becker, A., Saar, K., Rueschendorf, F., Polak, B.C., Ala-Mello, S., Hoefele, J., Wiedensohler, A., Haller, M., Omran, H., Nuernberg, P. and Hildebrandt, F.
American Journal of Human Genetics 70 (5): 1240-1246. May 2002

2001

A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.
Escayg, A., Heils, A., MacDonald, B.T., Haug, K., 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., Singh, J.R., Sarhadi, V.K., Singh, D., Reis, A., Rueschendorf, F., Becker-Follmann, J., 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., Kuester, W., Lestringant, G.G., Schulze, B., Hinz, B., Frossard, P.M., 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., Morera, B., del Valle, G., Heuss, D., Kayser, C., Berghoff, M., Villegas, R., Hernandez, E., Mendez, M., Hennies, H.C., Neundoerfer, B., Barrantes, R., 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., Blumenfeld, A., Gill, S.P., Leyne, M., Mull, J., Cuajungco, M.P., Liebert, C.B., Chadwick, B., Idelson, M., Reznik, L., Robbins, C.M., Makalowska, I., Brownstein, M.J., Krappmann, D., Scheidereit, C., Maayan, C., Axelrod, F.B. and Gusella, J.F.
American Journal of Human Genetics 68 : 598-605. 1 January 2001

2000

Splitting schizophrenia: Periodic catatonia-susceptibility locus on chromosome 15q15.
Stoeber, G., Saar, K., Rueschendorf, F., Meyer, J., Nuernberg, G., Jatzke, S., Franzek, E., Reis, A., Lesch, K.P., 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., Rueschendorf, F., Windemuth, C., Schmitt-Egenolf, M., Stadelmann, A., Nuernberg, G., Staender, M., Wienker, T.F., 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., Betz, R.C., Lee, Y.A., Wienker, T.F., Reis, A., Kleen, H., Propping, P., 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., Lee, Y.A., Bygum, A., Brandrup, F., Bernal, A.I., Toribio, J., Alvarez, J.I., Kukuk, G.M., Ibsen, H.H.W., Rasmussen, H.B., Wienker, T.F., Reis, A., Propping, P., Kruse, R., 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., De Waard, M., Lee, D.D., Bichet, D., Wolf, P., Mayer, T., Johnston, J., Baloh, R., 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., Hoffmeyer, S., Mischung, C., Gille, C., Ehlers, C., Kuecuekceylan, N., Abdel-Nour, M., Gewies, A., Peters, H., Kaufmann, D., Buske, A., 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., Mueller-Myhsok, B., Busjahn, A., Avi, L.B., Bähring, S., Baron, H., Heath, S.C., Uhlmann, R., Faulhaber, H.D., Shpitzen, S., Aydin, A., Reshef, A., Rosenthal, M., Eliav, O., Muhl, A., Lowe, A., Schurr, D., Harats, D., Jeschke, E., Friedlander, Y., Schuster, H., Luft, F.C. and Leitersdorf, E.
American Journal of Human Genetics 66 (1): 157-166. 1 January 2000

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

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

1999

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

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

Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14-q22.
Jung, M., Poepping, I., Perrot, A., Ellmer, A.E., Wienker, T.F., Dietz, R., 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., Saar, K., Morgan, N.V., Altay, C., Leegwater, P.A., de Winter, J.P., Komatsu, K., Evans, G.R., Wegner, R.D., Reis, A., Joenje, H., Arwert, F., Mathew, C.G., 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., Schreiber, S., Shaw, S.H., Lau, K.F., Bridger, S., Macpherson, A.J., Cardon, L.R., Sakul, H., Harris, T.J., Buckler, A., Hall, J., Stokkers, P., van Deventer, S.J., Nuernberg, P., Mirza, M.M., Lee, J.C., Lennard-Jones, J.E., 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., Jung, M., Smits, A.P.T., van Beersum, S., Rueschendorf, F., van Steensel, M., Veenstra, M., Tuerlings, J.H.A.M., Mariman, E.C.M., Brunner, H.G., Wienker, T.F., Reis, A., 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., Saar, K., van den Heuvel, L.P.W.J., Nuernberg, G., Vollmer, M., Hildebrandt, F., Reis, A., Monnens, L.A.H. and Knoers, N.V.A.M.
American Journal of Human Genetics 64 : 180-188. 1 January 1999

1998

The gene for human fibronectin glomerulopathy maps to 1q32, in the region of the regulation of complement activation gene cluster.
Vollmer, M., Jung, M., Rueschendorf, F., Ruf, R., Wienker, T.F., Reis, A., 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., Dittrich, B., Gross, S., Lich, C., Faerber, C., Buchholz, T., Smith, E., Reis, A., Buerger, J., Noethen, M.M., Barth-Witte, U., Janssen, B., Abeliovich, D., Lerer, I., van den Ouweland, A.M.W., Halley, D.J.J., Schrander-Stumpel, C., Smeets, H., Meinecke, P., Malcolm, S., Gardner, A., Lalande, M., Nicholls, R.D., Friend, K., Schulze, A., Matthijs, G., Kokkonen, H., Hilbert, P., Van Maldergem, L., Glover, G., Carbonell, P., Willems, P., 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., Kuester, W., Wiebe, V., 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., Saar, K., Hewitt, G., Rueschendorf, F., Phillips, H., Colley, A., Sillence, D., 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., Easton, D.F., Stratton, M., Narod, S., Goldgar, D., Devilee, P., Bishop, D.T., Weber, B., Lenoir, G., Chang-Claude, J., Sobol, H., Teare, M.D., Struewing, J., Arason, A., Scherneck, S., Peto, J., Rebbeck, T.R., Tonin, P., Neuhausen, S., Barkardottir, R., Eyfjord, J., Lynch, H., Ponder, B.A.J., Gayther, S.A., Birch, J.M., Lindblom, A., Stoppa-Lyonnet, D., Bignon, Y., Borg, A., Hamann, U., Haites, N., Scott, R.J., Maugard, C.M., Vasen, H., Seitz, S., Cannon-Albright, L.A., 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., Nuernberg, P., Ritter, H., Fahsold, R., Leistner, W., Kaufmann, D. and Krone, W.
American Journal of Human Genetics 62 (2): 269-277. 6 February 1998

1997

The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone receptor gene.
Nuernberg, P., Tinschert, S., Mrug, M., Hampe, J., Mueller, C.R., Fuhrmann, E., 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., Hennies, H.C., Jung, M., Jenkins, T., Wienker, T.F., Hull, P., Spurdle, A., Kuester, W., 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., Buiting, K., Dittrich, B., Gross, S., Lich, C., Sperling, K., 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., Chrzanowska, K.H., Stumm, M., Jung, M., Nuernberg, G., Wienker, T.F., Seemanova, E., Wegner, R.D., Reis, A. and Sperling, K.
American Journal of Human Genetics 60 (3): 605-610. March 1997

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

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

1995

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

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

1994

Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus.
Bichet, D.G., Birnbaumer, M., Lonergan, M., Arthus, M.F., Rosenthal, W., Goodyer, P., Nivet, H., Benoit, S., Giampietro, P., Simonetti, S., Fish, A., Whitley, C.B., Jaeger, P., Gertner, J., New, M., DiBona, F.J., Kaplan, B.S., Robertson, G.L., Hendy, G.N., 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., Sampietro, M., Rohde, K., Rochette, J., Weatherall, D.J., 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., Dittrich, B., Greger, V., Buiting, K., Lalande, M., Gillessen-Kaesbach, G., Anvret, M. and Horsthemke, B.
American Journal of Human Genetics 54 : 741-747. 1 January 1994

1993

Independent origin of identical cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy.
Watkins, H., Thierfelder, L.H., Anan, R., Jarcho, J., Matsumori, A., McKenna, W., 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., Bishop, D.T., Ford, D., Crockford, G.P., 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., Schuster, H., 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., Bender, E., Rohde, K., Reis, A., Wiseman, R., Futreal, A., Krause, H., Prokoph, H., Werner, S. and Scherneck, S.
American Journal of Human Genetics 52 (4): 789-791. April 1993

1992

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