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Author/Creator Houcinat, N.

1. Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data. Issue 2 (1st March 2017)

Authors:
Nambot, S.; Gavrilov, D.; Thevenon, J.; Bruel, A.L.; Bainbridge, M.; Rio, M.; Goizet, C.; Rötig, A.; Jaeken, J.; Niu, N.; Xia, F.; Vital, A.; Houcinat, N.; Mochel, F.; Kuentz, P.; Lehalle, D.; Duffourd, Y.; Rivière, J.B.; Thauvin‐Robinet, C.; Beaudet, A.L.
Journal:
Clinical genetics
Issue:
Volume 92:Issue 2(2017)
Page Start:
188
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents. (26th June 2015)

Authors:
Houcinat, N.; Llanas, B.; Moutton, S.; Toutain, J.; Cailley, D.; Arveiler, B.; Combe, C.; Lacombe, D.; Rooryck, C.
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 11(2015:Nov.)
Page Start:
2714
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features. Issue 6 (14th April 2018)

Authors:
Moutton, S.; Bruel, A.‐L.; Assoum, M.; Chevarin, M.; Sarrazin, E.; Goizet, C.; Guerrot, A.‐M.; Charollais, A.; Charles, P.; Heron, D.; Faudet, A.; Houcinat, N.; Vitobello, A.; Tran‐Mau‐Them, F.; Philippe, C.; Duffourd, Y.; Thauvin‐Robinet, C.; Faivre, L.
Journal:
Clinical genetics
Issue:
Volume 93:Issue 6(2018)
Page Start:
1172
Record Type:
Journal Article
View Content:
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5. Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly. Issue 1 (2nd March 2018)

Authors:
Bruel, A.‐L.; Thevenon, J.; Huet, F.; Jean‐Marcais, N.; Odent, S.; Dubourg, C.; Lehalle, D.; Tran Mau‐Them, F.; Philippe, C.; Moutton, S.; Houcinat, N.; Gay, S.; Guibaud, L.; Duffourd, Y.; Rivière, J.‐B.; Faivre, L.; Thauvin‐Robinet, C.
Journal:
Clinical genetics
Issue:
Volume 94:Issue 1(2018)
Page Start:
182
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗