GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

Elisabeth M Lodder; Pasquelena De Nittis; Charlotte D Koopman; Wojciech Wiszniewski; Carolina Fischinger Moura de Souza; Najim Lahrouchi; Nicolas Guex; Valerio Napolioni; Federico Tessadori; Leander Beekman; Eline A Nannenberg; Lamiae Boualla; Nico A Blom; Wim de Graaff; Maarten Kamermans; Dario Cocciadiferro; Natascia Malerba; Barbara Mandriani; Zeynep Hande Coban Akdemir; Richard J Fish; Mohammad K Eldomery; Ilham Ratbi; Arthur A M Wilde; Teun de Boer; William F Simonds; Marguerite Neerman-Arbez; V Reid Sutton; Fernando Kok; James R Lupski; Alexandre Reymond; Connie R Bezzina; Jeroen Bakkers; Giuseppe Merla

doi:10.1016/j.ajhg.2016.08.011

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

Elisabeth M Lodder, Pasquelena De Nittis, Charlotte D Koopman, Wojciech Wiszniewski, Carolina Fischinger Moura de Souza, Najim Lahrouchi, Nicolas Guex, Valerio Napolioni, Federico Tessadori, Leander Beekman, Eline A Nannenberg, Lamiae Boualla, Nico A Blom, Wim de Graaff, Maarten Kamermans, Dario Cocciadiferro, Natascia Malerba, Barbara Mandriani, Zeynep Hande Coban Akdemir, Richard J FishMohammad K Eldomery, Ilham Ratbi, Arthur A M Wilde, Teun de Boer, William F Simonds, Marguerite Neerman-Arbez, V Reid Sutton, Fernando Kok, James R Lupski, Alexandre Reymond, Connie R Bezzina, Jeroen Bakkers, Giuseppe Merla

Hubrecht Institute

Onderzoeksoutput: Bijdrage aan wetenschappelijk tijdschrift/periodieke uitgave › Artikel › Wetenschappelijk › peer review

Originele taal-2	Engels
Pagina's (van-tot)	786
Tijdschrift	American Journal of Human Genetics
Volume	99
Nummer van het tijdschrift	3
DOI's	https://doi.org/10.1016/j.ajhg.2016.08.011
Status	Gepubliceerd - 01 sep. 2016

Toegang tot document

10.1016/j.ajhg.2016.08.011

Citeer dit

Lodder, E. M., De Nittis, P., Koopman, C. D., Wiszniewski, W., Moura de Souza, C. F., Lahrouchi, N., Guex, N., Napolioni, V., Tessadori, F., Beekman, L., Nannenberg, E. A., Boualla, L., Blom, N. A., de Graaff, W., Kamermans, M., Cocciadiferro, D., Malerba, N., Mandriani, B., Coban Akdemir, Z. H., ... Merla, G. (2016). GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability. American Journal of Human Genetics, 99(3), 786. https://doi.org/10.1016/j.ajhg.2016.08.011

@article{673e5ade15634baa947e4b3aa4878472,

title = "GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability",

author = "Lodder, {Elisabeth M} and {De Nittis}, Pasquelena and Koopman, {Charlotte D} and Wojciech Wiszniewski and {Moura de Souza}, {Carolina Fischinger} and Najim Lahrouchi and Nicolas Guex and Valerio Napolioni and Federico Tessadori and Leander Beekman and Nannenberg, {Eline A} and Lamiae Boualla and Blom, {Nico A} and {de Graaff}, Wim and Maarten Kamermans and Dario Cocciadiferro and Natascia Malerba and Barbara Mandriani and {Coban Akdemir}, {Zeynep Hande} and Fish, {Richard J} and Eldomery, {Mohammad K} and Ilham Ratbi and Wilde, {Arthur A M} and {de Boer}, Teun and Simonds, {William F} and Marguerite Neerman-Arbez and Sutton, {V Reid} and Fernando Kok and Lupski, {James R} and Alexandre Reymond and Bezzina, {Connie R} and Jeroen Bakkers and Giuseppe Merla",

year = "2016",

month = sep,

day = "1",

doi = "10.1016/j.ajhg.2016.08.011",

language = "English",

volume = "99",

pages = "786",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "3",

}

Lodder, EM, De Nittis, P, Koopman, CD, Wiszniewski, W, Moura de Souza, CF, Lahrouchi, N, Guex, N, Napolioni, V, Tessadori, F, Beekman, L, Nannenberg, EA, Boualla, L, Blom, NA, de Graaff, W, Kamermans, M, Cocciadiferro, D, Malerba, N, Mandriani, B, Coban Akdemir, ZH, Fish, RJ, Eldomery, MK, Ratbi, I, Wilde, AAM, de Boer, T, Simonds, WF, Neerman-Arbez, M, Sutton, VR, Kok, F, Lupski, JR, Reymond, A, Bezzina, CR, Bakkers, J & Merla, G 2016, 'GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability', American Journal of Human Genetics, vol. 99, nr. 3, blz. 786. https://doi.org/10.1016/j.ajhg.2016.08.011

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability. / Lodder, Elisabeth M; De Nittis, Pasquelena; Koopman, Charlotte D et al.

In: American Journal of Human Genetics, Vol. 99, Nr. 3, 01.09.2016, blz. 786.

Onderzoeksoutput: Bijdrage aan wetenschappelijk tijdschrift/periodieke uitgave › Artikel › Wetenschappelijk › peer review

TY - JOUR

T1 - GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

AU - Lodder, Elisabeth M

AU - De Nittis, Pasquelena

AU - Koopman, Charlotte D

AU - Wiszniewski, Wojciech

AU - Moura de Souza, Carolina Fischinger

AU - Lahrouchi, Najim

AU - Guex, Nicolas

AU - Napolioni, Valerio

AU - Tessadori, Federico

AU - Beekman, Leander

AU - Nannenberg, Eline A

AU - Boualla, Lamiae

AU - Blom, Nico A

AU - de Graaff, Wim

AU - Kamermans, Maarten

AU - Cocciadiferro, Dario

AU - Malerba, Natascia

AU - Mandriani, Barbara

AU - Coban Akdemir, Zeynep Hande

AU - Fish, Richard J

AU - Eldomery, Mohammad K

AU - Ratbi, Ilham

AU - Wilde, Arthur A M

AU - de Boer, Teun

AU - Simonds, William F

AU - Neerman-Arbez, Marguerite

AU - Sutton, V Reid

AU - Kok, Fernando

AU - Lupski, James R

AU - Reymond, Alexandre

AU - Bezzina, Connie R

AU - Bakkers, Jeroen

AU - Merla, Giuseppe

PY - 2016/9/1

Y1 - 2016/9/1

U2 - 10.1016/j.ajhg.2016.08.011

DO - 10.1016/j.ajhg.2016.08.011

M3 - Article

C2 - 27588455

SN - 0002-9297

VL - 99

SP - 786

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 3

ER -