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Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus
Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus
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Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus

Fadista, João ; Lund, Marie ; Skotte, Line ; Geller, Frank ; Nandakumar, Priyanka ; Chatterjee, Sumantra ; Matsson, Hans ; Granström, Anna Löf ; Wester, Tomas ; Salo, Perttu ; Virtanen, Valtter ; Carstensen, Lisbeth ; Bybjerg-Grauholm, Jonas ; Hougaard, David Michael ; Pakarinen, Mikko ; Perola, Markus ; Nordenskjöld, Agneta ; Chakravarti, Aravinda ; Melbye, Mads ; Feenstra, Bjarke

European journal of human genetics : EJHG, 2018-04, Vol.26 (4), p.561-569 [Peer Reviewed Journal]

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Genome-wide association analyses identify variants in developmental genes associated with hypospadias
Genome-wide association analyses identify variants in developmental genes associated with hypospadias
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Genome-wide association analyses identify variants in developmental genes associated with hypospadias

Geller, F ; Feenstra, B ; Carstensen, L ; Pers, T.H ; Rooij, I.A.L.M. van ; Korberg, I.B ; Choudhry, S ; Karjalainen, J.M ; Schnack, T.H ; Hollegaard, M.V ; Feitz, W.F.J ; Roeleveld, N ; Hougaard, D.M ; Hirschhorn, J.N ; Franke, L ; Baskin, L.S ; Nordenskjold, A ; Zanden, L.F.M. van der ; Melbye, M

Nature genetics, 2014, Vol.46 (9), p.957-963 [Peer Reviewed Journal]

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3
Suboptimal Psychosocial Outcomes in Patients With Congenital Adrenal Hyperplasia: Epidemiological Studies in a Nonbiased National Cohort in Sweden
Suboptimal Psychosocial Outcomes in Patients With Congenital Adrenal Hyperplasia: Epidemiological Studies in a Nonbiased National Cohort in Sweden
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Suboptimal Psychosocial Outcomes in Patients With Congenital Adrenal Hyperplasia: Epidemiological Studies in a Nonbiased National Cohort in Sweden

Strandqvist, A ; Falhammar, H ; Lichtenstein, P ; Hirschberg, A. L ; Wedell, A ; Norrby, C ; Nordenskjöld, A ; Frisén, L ; Nordenström, A

The journal of clinical endocrinology and metabolism, 2014-04, Vol.99 (4), p.1425-1432 [Peer Reviewed Journal]

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4
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development
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ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development

Zhang, R ; Knapp, M ; Suzuki, K ; Kajioka, D ; Schmidt, J.M ; Winkler, J ; Yilmaz, O ; Pleschka, M ; Cao, J ; Kockum, C.C ; Barker, G ; Holmdahl, G ; Beaman, G ; Keene, D ; Woolf, A.S ; Cervellione, R.M ; Cheng, W ; Wilkins, S ; Gearhart, J.P ; Sirchia, F ; Grazia, M. Di ; Ebert, A.K ; Rosch, W ; Ellinger, J ; Jenetzky, E ; Zwink, N ; Feitz, W.F.J ; Marcelis, C.L ; Schumacher, J ; Martinon-Torres, F ; Hibberd, M.L ; Khor, C.C ; Heilmann-Heimbach, S ; Barth, S ; Boyadjiev, S.A ; Brusco, A ; Ludwig, M ; Newman, W ; Nordenskjold, A ; Yamada, G ; Odermatt, B ; Reutter, H

Scientific reports, 2017, Vol.7 (1), p.42170-42170 [Peer Reviewed Journal]

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5
Type of Mutation and Surgical Procedure Affect Long-Term Quality of Life for Women with Congenital Adrenal Hyperplasia
Type of Mutation and Surgical Procedure Affect Long-Term Quality of Life for Women with Congenital Adrenal Hyperplasia
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Type of Mutation and Surgical Procedure Affect Long-Term Quality of Life for Women with Congenital Adrenal Hyperplasia

Nordenskjöld, Agneta ; Holmdahl, Gundela ; Frisén, Louise ; Falhammar, Henrik ; Filipsson, Helena ; Thorén, Marja ; Janson, Per Olof ; Hagenfeldt, Kerstin

The journal of clinical endocrinology and metabolism, 2008-02, Vol.93 (2), p.380-386 [Peer Reviewed Journal]

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6
Common variants in DGKK are strongly associated with risk of hypospadias
Common variants in DGKK are strongly associated with risk of hypospadias
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Common variants in DGKK are strongly associated with risk of hypospadias

Zanden, L.F. van der ; Rooij, I.A.L.M. van ; Feitz, W.F.J ; Knight, J ; Donders, A.R.T ; Renkema, K.Y ; Bongers, M.H.F ; Vermeulen, S ; Kiemeney, L.A.L.M ; Veltman, J.A ; Arias Vasquez, A ; Zhang, X ; Markljung, E ; Qiao, L ; Baskin, L.S ; Nordenskjold, A ; Roeleveld, N ; Franke, B ; Knoers, N.V.A.M

Nature genetics, 2011, Vol.43 (1), p.48-50 [Peer Reviewed Journal]

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7
Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias
Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias
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Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias

Soderhall, C ; Korberg, I.B ; Thai, H.T ; Cao, J ; Chen, Y ; Zhang, X ; Shulu, Z ; Zanden, L.F.M. van der ; Rooij, I.A.L.M. van ; Frisen, L ; Roeleveld, N ; Markljung, E ; Kockum, I ; Nordenskjold, A

European journal of human genetics : EJHG, 2015, Vol.23 (4), p.516-522 [Peer Reviewed Journal]

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8
Current models of care for disorders of sex development - results from an International survey of specialist centres
Current models of care for disorders of sex development - results from an International survey of specialist centres
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Current models of care for disorders of sex development - results from an International survey of specialist centres

Kyriakou, Andreas ; Dessens, Arianne ; Bryce, Jillian ; Iotova, Violeta ; Juul, Anders ; Krawczynski, Maciej ; Nordenskjöld, Agneta ; Rozas, Marta ; Sanders, Caroline ; Hiort, Olaf ; Ahmed, S Faisal

Orphanet journal of rare diseases, 2016-11-21, Vol.11 (1), p.155-155 [Peer Reviewed Journal]

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9
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene
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Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene

Lundin, Johanna ; Markljung, Ellen ; Baranowska Körberg, Izabella ; Hofmeister, Wolfgang ; Cao, Jia ; Nilsson, Daniel ; Holmdahl, Gundela ; Barker, Gillian ; Anderberg, Magnus ; Vukojević, Vladana ; Lindstrand, Anna ; Nordenskjöld, Agneta

Molecular genetics & genomic medicine, 2019-06, Vol.7 (6), p.e666-n/a [Peer Reviewed Journal]

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10
Identification of three novel FGF16 mutations in X‐linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease
Identification of three novel FGF16 mutations in X‐linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease
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Identification of three novel FGF16 mutations in X‐linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease

Laurell, Tobias ; Nilsson, Daniel ; Hofmeister, Wolfgang ; Lindstrand, Anna ; Ahituv, Nadav ; Vandermeer, Julia ; Amilon, Anders ; Annerén, Göran ; Arner, Marianne ; Pettersson, Maria ; Jäntti, Nina ; Rosberg, Hans‐Eric ; Cattini, Peter A ; Nordenskjöld, Agneta ; Mäkitie, Outi ; Grigelioniene, Giedre ; Nordgren, Ann

Molecular genetics & genomic medicine, 2014-09, Vol.2 (5), p.402-411 [Peer Reviewed Journal]

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