De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy

MNJ Sa; H Venselaar; L Wiel; A Trimouille; E Lasseaux; S Naudion; D Lacombe; A Piton; C Vincent-Delorme; C Zweier; A Reis; R Trollmann; A Ruiz; E Gabau; A Vetro; R Guerrini; S Bakhtiari; MC Kruer; DJ Amor; MS Cooper; EK Bijlsma; Stefan Barakat; Marieke van Dooren; Marjon van Slegtenhorst; R Pfundt; C Gilissen; M Willemsen; BBA de Vries; APM de Brouwer; DA (David) Koolen

doi:10.1038/s41436-019-0703-y

De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy

MNJ Sa, H Venselaar, L Wiel, A Trimouille, E Lasseaux, S Naudion, D Lacombe, A Piton, C Vincent-Delorme, C Zweier, A Reis, R Trollmann, A Ruiz, E Gabau, A Vetro, R Guerrini, S Bakhtiari, MC Kruer, DJ Amor, MS CooperEK Bijlsma, Stefan Barakat, Marieke van Dooren, Marjon van Slegtenhorst, R Pfundt, C Gilissen, M Willemsen, BBA de Vries, APM de Brouwer, DA (David) Koolen

Clinical Genetics

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

20 Citations (Scopus)

Original language	English
Pages (from-to)	797-802
Number of pages	6
Journal	Genetics in Medicine
Volume	22
Issue number	4
DOIs	https://doi.org/10.1038/s41436-019-0703-y
Publication status	Published - 2020

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EMC MGC-02-96-01
EMC OR-01

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10.1038/s41436-019-0703-y

Cite this

Sa, MNJ., Venselaar, H., Wiel, L., Trimouille, A., Lasseaux, E., Naudion, S., Lacombe, D., Piton, A., Vincent-Delorme, C., Zweier, C., Reis, A., Trollmann, R., Ruiz, A., Gabau, E., Vetro, A., Guerrini, R., Bakhtiari, S., Kruer, MC., Amor, DJ., ... Koolen, DA. (2020). De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy. Genetics in Medicine, 22(4), 797-802. https://doi.org/10.1038/s41436-019-0703-y

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title = "De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy",

author = "MNJ Sa and H Venselaar and L Wiel and A Trimouille and E Lasseaux and S Naudion and D Lacombe and A Piton and C Vincent-Delorme and C Zweier and A Reis and R Trollmann and A Ruiz and E Gabau and A Vetro and R Guerrini and S Bakhtiari and MC Kruer and DJ Amor and MS Cooper and EK Bijlsma and Stefan Barakat and {van Dooren}, Marieke and {van Slegtenhorst}, Marjon and R Pfundt and C Gilissen and M Willemsen and {de Vries}, BBA and {de Brouwer}, APM and Koolen, {DA (David)}",

year = "2020",

doi = "10.1038/s41436-019-0703-y",

language = "English",

volume = "22",

pages = "797--802",

journal = "Genetics in Medicine",

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Sa, MNJ, Venselaar, H, Wiel, L, Trimouille, A, Lasseaux, E, Naudion, S, Lacombe, D, Piton, A, Vincent-Delorme, C, Zweier, C, Reis, A, Trollmann, R, Ruiz, A, Gabau, E, Vetro, A, Guerrini, R, Bakhtiari, S, Kruer, MC, Amor, DJ, Cooper, MS, Bijlsma, EK, Barakat, S , van Dooren, M , van Slegtenhorst, M, Pfundt, R, Gilissen, C, Willemsen, M, de Vries, BBA, de Brouwer, APM & Koolen, DA 2020, 'De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy', Genetics in Medicine, vol. 22, no. 4, pp. 797-802. https://doi.org/10.1038/s41436-019-0703-y

TY - JOUR

T1 - De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy

AU - Sa, MNJ

AU - Venselaar, H

AU - Wiel, L

AU - Trimouille, A

AU - Lasseaux, E

AU - Naudion, S

AU - Lacombe, D

AU - Piton, A

AU - Vincent-Delorme, C

AU - Zweier, C

AU - Reis, A

AU - Trollmann, R

AU - Ruiz, A

AU - Gabau, E

AU - Vetro, A

AU - Guerrini, R

AU - Bakhtiari, S

AU - Kruer, MC

AU - Amor, DJ

AU - Cooper, MS

AU - Bijlsma, EK

AU - Barakat, Stefan

AU - van Dooren, Marieke

AU - van Slegtenhorst, Marjon

AU - Pfundt, R

AU - Gilissen, C

AU - Willemsen, M

AU - de Vries, BBA

AU - de Brouwer, APM

AU - Koolen, DA (David)

PY - 2020

Y1 - 2020

U2 - 10.1038/s41436-019-0703-y

DO - 10.1038/s41436-019-0703-y

M3 - Article

C2 - 31776469

SN - 1098-3600

VL - 22

SP - 797

EP - 802

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 4

ER -