Phenotypes and genotypes in individuals with SMC1A variants

S Huisman; PA Mulder; E Redeker; Ingrid Bader; AM Bisgaard; A Brooks; A Cereda; C Cinca; D Clark; V Cormier-Daire; MA Deardorff; K Diderich; M Elting; A van Essen; D FitzPatrick; C Gervasini; G Gillessen-Kaesbach; KM Girisha; Y Hilhorst-Hofstee; S Hopman; D Horn; M Isrie; S Jansen; C Jespersgaard; FJ Kaiser; M Kaur; T Kleefstra; ID Krantz; P Lakeman; A Landlust; D Lessel; C Michot; J Moss; SE Noon; C Oliver; I Parenti; J Pie; FJ Ramos; C Rieubland; S Russo; A Selicorni; Z Tumer; R Vorstenbosch; TL Wenger; I van Balkom; S Piening; J Wierzba; RC Hennekam

doi:10.1002/ajmg.a.38279

Phenotypes and genotypes in individuals with SMC1A variants

S Huisman, PA Mulder, E Redeker, Ingrid Bader (Co-author), AM Bisgaard, A Brooks, A Cereda, C Cinca, D Clark, V Cormier-Daire, MA Deardorff, K Diderich, M Elting, A van Essen, D FitzPatrick, C Gervasini, G Gillessen-Kaesbach, KM Girisha, Y Hilhorst-Hofstee, S HopmanD Horn, M Isrie, S Jansen, C Jespersgaard, FJ Kaiser, M Kaur, T Kleefstra, ID Krantz, P Lakeman, A Landlust, D Lessel, C Michot, J Moss, SE Noon, C Oliver, I Parenti, J Pie, FJ Ramos, C Rieubland, S Russo, A Selicorni, Z Tumer, R Vorstenbosch, TL Wenger, I van Balkom, S Piening, J Wierzba, RC Hennekam

Department of Pediatrics

Research output: Contribution to journal › Original Article › peer-review

73 Citations (Web of Science)

Original language	English
Pages (from-to)	2108-2125
Journal	AM J MED GENET PART A
Volume	173
Issue number	8
DOIs	https://doi.org/10.1002/ajmg.a.38279
Publication status	Published - 2017

Keywords

DE-LANGE-SYNDROME
SEVERE INTELLECTUAL DISABILITY
SISTER-CHROMATID COHESION
HUMAN HOMOLOG
NIPPED-B
CORNELIA
MUTATIONS
NIPBL
EPILEPSY
SPECTRUM

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10.1002/ajmg.a.38279

Cite this

Huisman, S., Mulder, PA., Redeker, E., Bader, I., Bisgaard, AM., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, MA., Diderich, K., Elting, M., van Essen, A., FitzPatrick, D., Gervasini, C., Gillessen-Kaesbach, G., Girisha, KM., Hilhorst-Hofstee, Y., ... Hennekam, RC. (2017). Phenotypes and genotypes in individuals with SMC1A variants. AM J MED GENET PART A, 173(8), 2108-2125. https://doi.org/10.1002/ajmg.a.38279

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title = "Phenotypes and genotypes in individuals with SMC1A variants",

keywords = "DE-LANGE-SYNDROME, SEVERE INTELLECTUAL DISABILITY, SISTER-CHROMATID COHESION, HUMAN HOMOLOG, NIPPED-B, CORNELIA, MUTATIONS, NIPBL, EPILEPSY, SPECTRUM",

author = "S Huisman and PA Mulder and E Redeker and Ingrid Bader and AM Bisgaard and A Brooks and A Cereda and C Cinca and D Clark and V Cormier-Daire and MA Deardorff and K Diderich and M Elting and {van Essen}, A and D FitzPatrick and C Gervasini and G Gillessen-Kaesbach and KM Girisha and Y Hilhorst-Hofstee and S Hopman and D Horn and M Isrie and S Jansen and C Jespersgaard and FJ Kaiser and M Kaur and T Kleefstra and ID Krantz and P Lakeman and A Landlust and D Lessel and C Michot and J Moss and SE Noon and C Oliver and I Parenti and J Pie and FJ Ramos and C Rieubland and S Russo and A Selicorni and Z Tumer and R Vorstenbosch and TL Wenger and {van Balkom}, I and S Piening and J Wierzba and RC Hennekam",

note = "Bader: Paracelsus Med Univ Salzburg, Dept Pediat, Austria;",

year = "2017",

doi = "10.1002/ajmg.a.38279",

language = "English",

volume = "173",

pages = "2108--2125",

journal = "AM J MED GENET PART A",

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Huisman, S, Mulder, PA, Redeker, E, Bader, I, Bisgaard, AM, Brooks, A, Cereda, A, Cinca, C, Clark, D, Cormier-Daire, V, Deardorff, MA, Diderich, K, Elting, M, van Essen, A, FitzPatrick, D, Gervasini, C, Gillessen-Kaesbach, G, Girisha, KM, Hilhorst-Hofstee, Y, Hopman, S, Horn, D, Isrie, M, Jansen, S, Jespersgaard, C, Kaiser, FJ, Kaur, M, Kleefstra, T, Krantz, ID, Lakeman, P, Landlust, A, Lessel, D, Michot, C, Moss, J, Noon, SE, Oliver, C, Parenti, I, Pie, J, Ramos, FJ, Rieubland, C, Russo, S, Selicorni, A, Tumer, Z, Vorstenbosch, R, Wenger, TL, van Balkom, I, Piening, S, Wierzba, J & Hennekam, RC 2017, 'Phenotypes and genotypes in individuals with SMC1A variants', AM J MED GENET PART A, vol. 173, no. 8, pp. 2108-2125. https://doi.org/10.1002/ajmg.a.38279

TY - JOUR

T1 - Phenotypes and genotypes in individuals with SMC1A variants

AU - Huisman, S

AU - Mulder, PA

AU - Redeker, E

AU - Bader, Ingrid

AU - Bisgaard, AM

AU - Brooks, A

AU - Cereda, A

AU - Cinca, C

AU - Clark, D

AU - Cormier-Daire, V

AU - Deardorff, MA

AU - Diderich, K

AU - Elting, M

AU - van Essen, A

AU - FitzPatrick, D

AU - Gervasini, C

AU - Gillessen-Kaesbach, G

AU - Girisha, KM

AU - Hilhorst-Hofstee, Y

AU - Hopman, S

AU - Horn, D

AU - Isrie, M

AU - Jansen, S

AU - Jespersgaard, C

AU - Kaiser, FJ

AU - Kaur, M

AU - Kleefstra, T

AU - Krantz, ID

AU - Lakeman, P

AU - Landlust, A

AU - Lessel, D

AU - Michot, C

AU - Moss, J

AU - Noon, SE

AU - Oliver, C

AU - Parenti, I

AU - Pie, J

AU - Ramos, FJ

AU - Rieubland, C

AU - Russo, S

AU - Selicorni, A

AU - Tumer, Z

AU - Vorstenbosch, R

AU - Wenger, TL

AU - van Balkom, I

AU - Piening, S

AU - Wierzba, J

AU - Hennekam, RC

N1 - Bader: Paracelsus Med Univ Salzburg, Dept Pediat, Austria;

PY - 2017

Y1 - 2017

KW - DE-LANGE-SYNDROME

KW - SEVERE INTELLECTUAL DISABILITY

KW - SISTER-CHROMATID COHESION

KW - HUMAN HOMOLOG

KW - NIPPED-B

KW - CORNELIA

KW - MUTATIONS

KW - NIPBL

KW - EPILEPSY

KW - SPECTRUM

U2 - 10.1002/ajmg.a.38279

DO - 10.1002/ajmg.a.38279

M3 - Original Article

C2 - 28548707

SN - 1552-4825

VL - 173

SP - 2108

EP - 2125

JO - AM J MED GENET PART A

JF - AM J MED GENET PART A

IS - 8

ER -