A systematic approach to mapping recessive disease genes in individuals from outbred populations
Hildebrandt, Friedhelm, Heeringa, Saskia F, Rüschendorf, Franz, Attanasio, Massimo, Nürnberg, Gudrun, Becker, Christian, Seelow, Dominik, Huebner, Norbert, Chernin, Gil, Vlangos, Christopher N, Zhou, Weibin, O'Toole, John F, Hoskins, Bethan E, Wolf, Matthias T F, Hinkes, Bernward G, Chaib, Hassan, Ashraf, Shazia, Schoeb, Dominik S, Ovunc, Bugsu, Allen, Susan J, Vega-Warner, Virginia, Wise, Eric, Harville, Heather M, Lyons, Robert H, Washburn, Joseph, Macdonald, James, Nürnberg, Peter, Otto, Edgar A
Published in PLoS genetics (01.01.2009)
Published in PLoS genetics (01.01.2009)
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Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency
Hay, Eleanor, Wilson, Louise C, Hoskins, Bethan, Samuels, Martin, Munot, Pinki, Rahman, Shamima
Published in European journal of human genetics : EJHG (01.10.2021)
Published in European journal of human genetics : EJHG (01.10.2021)
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Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis
Saisawat, Pawaree, Tasic, Velibor, Vega-Warner, Virginia, Kehinde, Elijah O., Günther, Barbara, Airik, Rannar, Innis, Jeffrey W., Hoskins, Bethan E., Hoefele, Julia, Otto, Edgar A., Hildebrandt, Friedhelm
Published in Kidney international (01.01.2012)
Published in Kidney international (01.01.2012)
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Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible
Hildebrandt, Friedhelm, Hinkes, Bernward, Wiggins, Roger C, Gbadegesin, Rasheed, Vlangos, Christopher N, Seelow, Dominik, Nürnberg, Gudrun, Garg, Puneet, Verma, Rakesh, Chaib, Hassan, Hoskins, Bethan E, Ashraf, Shazia, Becker, Christian, Hennies, Hans Christian, Goyal, Meera, Wharram, Bryan L, Schachter, Asher D, Mudumana, Sudha, Drummond, Iain, Kerjaschki, Dontscho, Waldherr, Rüdiger, Dietrich, Alexander, Ozaltin, Fatih, Bakkaloglu, Aysin, Cleper, Roxana, Basel-Vanagaite, Lina, Pohl, Martin, Griebel, Martin, Tsygin, Alexey N, Soylu, Alper, Müller, Dominik, Sorli, Caroline S, Bunney, Tom D, Katan, Matilda, Liu, Jinhong, Attanasio, Massimo, O'Toole, John F, Hasselbacher, Katrin, Mucha, Bettina, Otto, Edgar A, Airik, Rannar, Kispert, Andreas, Kelley, Grant G, Smrcka, Alan V, Gudermann, Thomas, Holzman, Lawrence B, Nürnberg, Peter
Published in Nature genetics (01.12.2006)
Published in Nature genetics (01.12.2006)
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Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse
Katsanis, Nicholas, Kulaga, Heather M, Leitch, Carmen C, Eichers, Erica R, Badano, Jose L, Lesemann, Alysa, Hoskins, Bethan E, Lupski, James R, Beales, Philip L, Reed, Randall R
Published in Nature genetics (01.09.2004)
Published in Nature genetics (01.09.2004)
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Journal Article
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
Katsanis, Nicholas, Ansley, Stephen J, Badano, Jose L, Blacque, Oliver E, Hill, Josephine, Hoskins, Bethan E, Leitch, Carmen C, Chul Kim, Jun, Ross, Alison J, Eichers, Erica R, Teslovich, Tanya M, Mah, Allan K, Johnsen, Robert C, Cavender, John C, Alan Lewis, Richard, Leroux, Michel R, Beales, Philip L
Published in Nature (09.10.2003)
Published in Nature (09.10.2003)
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Journal Article
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression
Leroux, Michel R, Katsanis, Nicholas, Kim, Jun Chul, Badano, Jose L, Sibold, Sonja, Esmail, Muneer A, Hill, Josephine, Hoskins, Bethan E, Leitch, Carmen C, Venner, Kerrie, Ansley, Stephen J, Ross, Alison J, Beales, Philip L
Published in Nature genetics (01.05.2004)
Published in Nature genetics (01.05.2004)
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Journal Article
Transcription Factor SIX5 Is Mutated in Patients with Branchio-Oto-Renal Syndrome
Hoskins, Bethan E., Cramer, Carl H., Silvius, Derek, Zou, Dan, Raymond, Richard M., Orten, Dana J., Kimberling, William J., Smith, Richard J.H., Weil, Dominique, Petit, Christine, Otto, Edgar A., Xu, Pin-Xian, Hildebrandt, Friedhelm
Published in American journal of human genetics (01.04.2007)
Published in American journal of human genetics (01.04.2007)
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Journal Article
Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
Katsanis, Nicholas, Ansley, Stephen J., Badano, Jose L., Eichers, Erica R., Lewis, Richard Alan, Hoskins, Bethan E., Scambler, Peter J., Davidson, William S., Beales, Philip L., Lupski, James R.
Published in Science (American Association for the Advancement of Science) (21.09.2001)
Published in Science (American Association for the Advancement of Science) (21.09.2001)
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Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy
O'Toole, John F, Liu, Yangjian, Davis, Erica E, Westlake, Christopher J, Attanasio, Massimo, Otto, Edgar A, Seelow, Dominik, Nurnberg, Gudrun, Becker, Christian, Nuutinen, Matti, Kärppä, Mikko, Ignatius, Jaakko, Uusimaa, Johanna, Pakanen, Salla, Jaakkola, Elisa, van den Heuvel, Lambertus P, Fehrenbach, Henry, Wiggins, Roger, Goyal, Meera, Zhou, Weibin, Wolf, Matthias T F, Wise, Eric, Helou, Juliana, Allen, Susan J, Murga-Zamalloa, Carlos A, Ashraf, Shazia, Chaki, Moumita, Heeringa, Saskia, Chernin, Gil, Hoskins, Bethan E, Chaib, Hassan, Gleeson, Joseph, Kusakabe, Takehiro, Suzuki, Takako, Isaac, R Elwyn, Quarmby, Lynne M, Tennant, Bryan, Fujioka, Hisashi, Tuominen, Hannu, Hassinen, Ilmo, Lohi, Hellevi, van Houten, Judith L, Rotig, Agnes, Sayer, John A, Rolinski, Boris, Freisinger, Peter, Madhavan, Sethu M, Herzer, Martina, Madignier, Florence, Prokisch, Holger, Nurnberg, Peter, Jackson, Peter K, Jackson, Peter, Khanna, Hemant, Katsanis, Nicholas, Hildebrandt, Friedhelm
Published in The Journal of clinical investigation (01.03.2010)
Published in The Journal of clinical investigation (01.03.2010)
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Journal Article
Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS)
Gbadegesin, Rasheed, Hinkes, Bernward G., Hoskins, Bethan E., Vlangos, Christopher N., Heeringa, Saskia F., Liu, Jinhong, Loirat, Chantal, Ozaltin, Fatih, Hashmi, Seema, Ulmer, Francis, Cleper, Roxanna, Ettenger, Robert, Antignac, Corinne, Wiggins, Roger C., Zenker, Martin, Hildebrandt, Friedhelm
Published in Nephrology, dialysis, transplantation (01.04.2008)
Published in Nephrology, dialysis, transplantation (01.04.2008)
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Journal Article
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome
PEREIRO, Ines, HOSKINS, Bethan E, MARSHALL, Jan D, COLLIN, Gayle B, NAGGERT, Jürgen K, PINEIRO-GALLEGO, Teresa, OITMAA, Eneli, KATSANIS, Nicholas, VALVERDE, Diana, BEALES, Philip L
Published in European journal of human genetics : EJHG (01.04.2011)
Published in European journal of human genetics : EJHG (01.04.2011)
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Journal Article
Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome
Beales, Philip L., Badano, Jose L., Ross, Alison J., Ansley, Stephen J., Hoskins, Bethan E., Kirsten, Brigitta, Mein, Charles A., Froguel, Philippe, Scambler, Peter J., Lewis, Richard Alan, Lupski, James R., Katsanis, Nicholas
Published in American journal of human genetics (01.05.2003)
Published in American journal of human genetics (01.05.2003)
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Journal Article
Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet–Biedl patients with two mutations at a second BBS locus
Badano, Jose L., Kim, Jun Chul, Hoskins, Bethan E., Lewis, Richard Alan, Ansley, Stephen J., Cutler, David J., Castellan, Claudio, Beales, Philip L., Leroux, Michel R., Katsanis, Nicholas
Published in Human molecular genetics (15.07.2003)
Published in Human molecular genetics (15.07.2003)
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Journal Article
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome
Heeringa, Saskia F., Vlangos, Christopher N., Chernin, Gil, Hinkes, Bernward, Gbadegesin, Rasheed, Liu, Jinhong, Hoskins, Bethan E., Ozaltin, Fatih, Hildebrandt, Friedhelm
Published in Nephrology, dialysis, transplantation (01.11.2008)
Published in Nephrology, dialysis, transplantation (01.11.2008)
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Journal Article
Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24
Ashraf, Shazia, Hoskins, Bethan E., Chaib, Hassan, Hoefele, Julia, Pasch, Andreas, Saisawat, Pawaree, Trefz, Friedrich, Hacker, Hans W., Nuernberg, Gudrun, Nuernberg, Peter, Otto, Edgar A., Hildebrandt, Friedhelm
Published in Nephrology, dialysis, transplantation (01.05.2010)
Published in Nephrology, dialysis, transplantation (01.05.2010)
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Journal Article
BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance
Katsanis, Nicholas, Eichers, Erica R., Ansley, Stephen J., Lewis, Richard Alan, Kayserili, Hülya, Hoskins, Bethan E., Scambler, Peter J., Beales, Philip L., Lupski, James R.
Published in American journal of human genetics (01.07.2002)
Published in American journal of human genetics (01.07.2002)
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Journal Article
Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations
Hoskins, Bethan E., Cramer, Carl H., Tasic, Velibor, Kehinde, Elijah O., Ashraf, Shazia, Bogdanovic, Radovan, Hoefele, Julia, Pohl, Martin, Hildebrandt, Friedhelm
Published in Nephrology, dialysis, transplantation (01.02.2008)
Published in Nephrology, dialysis, transplantation (01.02.2008)
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Journal Article
Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9
Mucha, Bettina, Ozaltin, Fatih, Hinkes, Bernward G, Hasselbacher, Katrin, Ruf, Rainer G, Schultheiss, Michael, Hangan, Daniela, Hoskins, Bethan E, Everding, Anne Schulze, Bogdanovic, Radovan, Seeman, Thomas, Hoppe, Bernd, Hildebrandt, Friedhelm
Published in Pediatric research (01.02.2006)
Published in Pediatric research (01.02.2006)
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Journal Article
Evaluation of multiplex capillary heteroduplex analysis: A rapid and sensitive mutation screening technique
Hoskins, Bethan E., Thorn, Anita, Scambler, Peter J., Beales, Philip L.
Published in Human mutation (01.08.2003)
Published in Human mutation (01.08.2003)
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