The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

Michael D. Fountain; Emmelien Aten; Megan T. Cho; Jane Juusola; Magdalena A. Walkiewicz; Joseph W. Ray; Fan Xia; Yaping Yang; Brett H. Graham; Carlos A. Bacino; Lorraine Potocki; Arie van Haeringen; Claudia A. L. Ruivenkamp; Pedro Mancias; Hope Northrup; Mary K. Kukolich; Marjan M. Weiss; Conny M. A. van Ravenswaaij-Arts; Inge B. Mathijssen; Sebastien Levesque; Naomi Meeks; Jill A. Rosenfeld; Danielle Lemke; Ada Hamosh; Suzanne K. Lewis; Simone Race; Laura L. Stewart; Beverly Hay; Andrea M. Lewis; Rita L. Guerreiro; Jose T. Bras; Marcia P. Martins; Gerarda Derksen-Lubsen; Els Peeters; Connie Stumpel; Sander Stegmann; Levinus A. Bok; Gijs W. E. Santen; Christian P. Schaaf

doi:10.1038/gim.2016.53

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

Michael D. Fountain, Emmelien Aten, Megan T. Cho, Jane Juusola, Magdalena A. Walkiewicz, Joseph W. Ray, Fan Xia, Yaping Yang, Brett H. Graham, Carlos A. Bacino, Lorraine Potocki, Arie van Haeringen, Claudia A. L. Ruivenkamp, Pedro Mancias, Hope Northrup, Mary K. Kukolich, Marjan M. Weiss, Conny M. A. van Ravenswaaij-Arts, Inge B. Mathijssen, Sebastien LevesqueNaomi Meeks, Jill A. Rosenfeld, Danielle Lemke, Ada Hamosh, Suzanne K. Lewis, Simone Race, Laura L. Stewart, Beverly Hay, Andrea M. Lewis, Rita L. Guerreiro, Jose T. Bras, Marcia P. Martins, Gerarda Derksen-Lubsen, Els Peeters, Connie Stumpel, Sander Stegmann, Levinus A. Bok, Gijs W. E. Santen^*, Christian P. Schaaf^*

^*Corresponding author for this work

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

Original language	English
Pages (from-to)	45-52
Number of pages	8
Journal	Genetics in Medicine
Volume	19
Issue number	1
DOIs	https://doi.org/10.1038/gim.2016.53
Publication status	Published - Jan 2017

Keywords

MAGEL2
neurodevelopment
Prader-Willi syndrome
Schaaf-Yang syndrome
PRADER-WILLI-SYNDROME
TRUNCATING MUTATIONS
FETAL PHENOTYPE
AUTISM
GENE

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10.1038/gim.2016.53

Cite this

Fountain, M. D., Aten, E., Cho, M. T., Juusola, J., Walkiewicz, M. A., Ray, J. W., Xia, F., Yang, Y., Graham, B. H., Bacino, C. A., Potocki, L., van Haeringen, A., Ruivenkamp, C. A. L., Mancias, P., Northrup, H., Kukolich, M. K., Weiss, M. M., van Ravenswaaij-Arts, C. M. A., Mathijssen, I. B., ... Schaaf, C. P. (2017). The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. Genetics in Medicine, 19(1), 45-52. https://doi.org/10.1038/gim.2016.53

Fountain, Michael D. ; Aten, Emmelien ; Cho, Megan T. ; Juusola, Jane ; Walkiewicz, Magdalena A. ; Ray, Joseph W. ; Xia, Fan ; Yang, Yaping ; Graham, Brett H. ; Bacino, Carlos A. ; Potocki, Lorraine ; van Haeringen, Arie ; Ruivenkamp, Claudia A. L. ; Mancias, Pedro ; Northrup, Hope ; Kukolich, Mary K. ; Weiss, Marjan M. ; van Ravenswaaij-Arts, Conny M. A. ; Mathijssen, Inge B. ; Levesque, Sebastien ; Meeks, Naomi ; Rosenfeld, Jill A. ; Lemke, Danielle ; Hamosh, Ada ; Lewis, Suzanne K. ; Race, Simone ; Stewart, Laura L. ; Hay, Beverly ; Lewis, Andrea M. ; Guerreiro, Rita L. ; Bras, Jose T. ; Martins, Marcia P. ; Derksen-Lubsen, Gerarda ; Peeters, Els ; Stumpel, Connie ; Stegmann, Sander ; Bok, Levinus A. ; Santen, Gijs W. E. ; Schaaf, Christian P. / The phenotypic spectrum of Schaaf-Yang syndrome : 18 new affected individuals from 14 families. In: Genetics in Medicine. 2017 ; Vol. 19, No. 1. pp. 45-52.

@article{191698bbeb7944f5b6252da603cc38bc,

title = "The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families",

keywords = "MAGEL2, neurodevelopment, Prader-Willi syndrome, Schaaf-Yang syndrome, PRADER-WILLI-SYNDROME, TRUNCATING MUTATIONS, FETAL PHENOTYPE, AUTISM, GENE",

author = "Fountain, {Michael D.} and Emmelien Aten and Cho, {Megan T.} and Jane Juusola and Walkiewicz, {Magdalena A.} and Ray, {Joseph W.} and Fan Xia and Yaping Yang and Graham, {Brett H.} and Bacino, {Carlos A.} and Lorraine Potocki and {van Haeringen}, Arie and Ruivenkamp, {Claudia A. L.} and Pedro Mancias and Hope Northrup and Kukolich, {Mary K.} and Weiss, {Marjan M.} and {van Ravenswaaij-Arts}, {Conny M. A.} and Mathijssen, {Inge B.} and Sebastien Levesque and Naomi Meeks and Rosenfeld, {Jill A.} and Danielle Lemke and Ada Hamosh and Lewis, {Suzanne K.} and Simone Race and Stewart, {Laura L.} and Beverly Hay and Lewis, {Andrea M.} and Guerreiro, {Rita L.} and Bras, {Jose T.} and Martins, {Marcia P.} and Gerarda Derksen-Lubsen and Els Peeters and Connie Stumpel and Sander Stegmann and Bok, {Levinus A.} and Santen, {Gijs W. E.} and Schaaf, {Christian P.}",

year = "2017",

month = jan,

doi = "10.1038/gim.2016.53",

language = "English",

volume = "19",

pages = "45--52",

journal = "Genetics in Medicine",

issn = "1098-3600",

publisher = "Nature Publishing Group",

number = "1",

}

Fountain, MD, Aten, E, Cho, MT, Juusola, J, Walkiewicz, MA, Ray, JW, Xia, F, Yang, Y, Graham, BH, Bacino, CA, Potocki, L, van Haeringen, A, Ruivenkamp, CAL, Mancias, P, Northrup, H, Kukolich, MK, Weiss, MM, van Ravenswaaij-Arts, CMA, Mathijssen, IB, Levesque, S, Meeks, N, Rosenfeld, JA, Lemke, D, Hamosh, A, Lewis, SK, Race, S, Stewart, LL, Hay, B, Lewis, AM, Guerreiro, RL, Bras, JT, Martins, MP, Derksen-Lubsen, G, Peeters, E, Stumpel, C , Stegmann, S, Bok, LA, Santen, GWE & Schaaf, CP 2017, 'The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families', Genetics in Medicine, vol. 19, no. 1, pp. 45-52. https://doi.org/10.1038/gim.2016.53

The phenotypic spectrum of Schaaf-Yang syndrome : 18 new affected individuals from 14 families. / Fountain, Michael D.; Aten, Emmelien; Cho, Megan T.; Juusola, Jane; Walkiewicz, Magdalena A.; Ray, Joseph W.; Xia, Fan; Yang, Yaping; Graham, Brett H.; Bacino, Carlos A.; Potocki, Lorraine; van Haeringen, Arie; Ruivenkamp, Claudia A. L.; Mancias, Pedro; Northrup, Hope; Kukolich, Mary K.; Weiss, Marjan M.; van Ravenswaaij-Arts, Conny M. A.; Mathijssen, Inge B.; Levesque, Sebastien; Meeks, Naomi; Rosenfeld, Jill A.; Lemke, Danielle; Hamosh, Ada; Lewis, Suzanne K.; Race, Simone; Stewart, Laura L.; Hay, Beverly; Lewis, Andrea M.; Guerreiro, Rita L.; Bras, Jose T.; Martins, Marcia P.; Derksen-Lubsen, Gerarda; Peeters, Els; Stumpel, Connie ; Stegmann, Sander; Bok, Levinus A.; Santen, Gijs W. E.; Schaaf, Christian P.

In: Genetics in Medicine, Vol. 19, No. 1, 01.2017, p. 45-52.

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

TY - JOUR

T1 - The phenotypic spectrum of Schaaf-Yang syndrome

T2 - 18 new affected individuals from 14 families

AU - Fountain, Michael D.

AU - Aten, Emmelien

AU - Cho, Megan T.

AU - Juusola, Jane

AU - Walkiewicz, Magdalena A.

AU - Ray, Joseph W.

AU - Xia, Fan

AU - Yang, Yaping

AU - Graham, Brett H.

AU - Bacino, Carlos A.

AU - Potocki, Lorraine

AU - van Haeringen, Arie

AU - Ruivenkamp, Claudia A. L.

AU - Mancias, Pedro

AU - Northrup, Hope

AU - Kukolich, Mary K.

AU - Weiss, Marjan M.

AU - van Ravenswaaij-Arts, Conny M. A.

AU - Mathijssen, Inge B.

AU - Levesque, Sebastien

AU - Meeks, Naomi

AU - Rosenfeld, Jill A.

AU - Lemke, Danielle

AU - Hamosh, Ada

AU - Lewis, Suzanne K.

AU - Race, Simone

AU - Stewart, Laura L.

AU - Hay, Beverly

AU - Lewis, Andrea M.

AU - Guerreiro, Rita L.

AU - Bras, Jose T.

AU - Martins, Marcia P.

AU - Derksen-Lubsen, Gerarda

AU - Peeters, Els

AU - Stumpel, Connie

AU - Stegmann, Sander

AU - Bok, Levinus A.

AU - Santen, Gijs W. E.

AU - Schaaf, Christian P.

PY - 2017/1

Y1 - 2017/1

KW - MAGEL2

KW - neurodevelopment

KW - Prader-Willi syndrome

KW - Schaaf-Yang syndrome

KW - PRADER-WILLI-SYNDROME

KW - TRUNCATING MUTATIONS

KW - FETAL PHENOTYPE

KW - AUTISM

KW - GENE

U2 - 10.1038/gim.2016.53

DO - 10.1038/gim.2016.53

M3 - Article

VL - 19

SP - 45

EP - 52

JO - Genetics in Medicine

JF - Genetics in Medicine

SN - 1098-3600

IS - 1

ER -