A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome

Frank Rutsch; Mary Macdougall; Changming Lu; Insa Buers; Olga Mamaeva; Yvonne Nitschke; Gillian i. Rice; Heidi Erlandsen; Hans gerd Kehl; Holger Thiele; Peter Nürnberg; Wolfgang Höhne; Yanick j. Crow; Annette Feigenbaum; Raoul c. Hennekam

doi:10.1016/j.ajhg.2014.12.014

A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome

Frank Rutsch, Mary Macdougall, Changming Lu, Insa Buers, Olga Mamaeva, Yvonne Nitschke, Gillian i. Rice, Heidi Erlandsen, Hans gerd Kehl, Holger Thiele, Peter Nürnberg, Wolfgang Höhne, Yanick j. Crow, Annette Feigenbaum, Raoul c. Hennekam

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

Original language	English
Pages (from-to)	275-282
Journal	American Journal of Human Genetics
Volume	96
Issue number	2
Early online date	22 Jan 2015
DOIs	https://doi.org/10.1016/j.ajhg.2014.12.014
Publication status	Published - 1 Feb 2015

Access to Document

10.1016/j.ajhg.2014.12.014

http://linkinghub.elsevier.com/retrieve/pii/S0002929714005205

Cite this

Rutsch, Frank ; Macdougall, Mary ; Lu, Changming ; Buers, Insa ; Mamaeva, Olga ; Nitschke, Yvonne ; Rice, Gillian i. ; Erlandsen, Heidi ; Kehl, Hans gerd ; Thiele, Holger ; Nürnberg, Peter ; Höhne, Wolfgang ; Crow, Yanick j. ; Feigenbaum, Annette ; Hennekam, Raoul c. / A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome. In: American Journal of Human Genetics. 2015 ; Vol. 96, No. 2. pp. 275-282.

@article{f49acb11fdc64b95a0692363f9e6321e,

title = "A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome",

author = "Frank Rutsch and Mary Macdougall and Changming Lu and Insa Buers and Olga Mamaeva and Yvonne Nitschke and Gillian i. Rice and Heidi Erlandsen and Hans gerd Kehl and Holger Thiele and Peter N{\"u}rnberg and Wolfgang H{\"o}hne and Yanick j. Crow and Annette Feigenbaum and Raoul c. Hennekam",

year = "2015",

month = feb,

day = "1",

doi = "10.1016/j.ajhg.2014.12.014",

language = "English",

volume = "96",

pages = "275--282",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "2",

}

A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome. / Rutsch, Frank; Macdougall, Mary; Lu, Changming; Buers, Insa; Mamaeva, Olga; Nitschke, Yvonne; Rice, Gillian i.; Erlandsen, Heidi; Kehl, Hans gerd; Thiele, Holger; Nürnberg, Peter; Höhne, Wolfgang; Crow, Yanick j.; Feigenbaum, Annette; Hennekam, Raoul c.

In: American Journal of Human Genetics, Vol. 96, No. 2, 01.02.2015, p. 275-282.

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

TY - JOUR

T1 - A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome

AU - Rutsch, Frank

AU - Macdougall, Mary

AU - Lu, Changming

AU - Buers, Insa

AU - Mamaeva, Olga

AU - Nitschke, Yvonne

AU - Rice, Gillian i.

AU - Erlandsen, Heidi

AU - Kehl, Hans gerd

AU - Thiele, Holger

AU - Nürnberg, Peter

AU - Höhne, Wolfgang

AU - Crow, Yanick j.

AU - Feigenbaum, Annette

AU - Hennekam, Raoul c.

PY - 2015/2/1

Y1 - 2015/2/1

U2 - 10.1016/j.ajhg.2014.12.014

DO - 10.1016/j.ajhg.2014.12.014

M3 - Article

VL - 96

SP - 275

EP - 282

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 2

ER -