de novo PHF5A variants cause craniofacial abnormalities and developmental delay

被引：0

作者：

Harms, Frederike ^{[1
]}

Dingemans, Alexander ^{[2
]}

Hempel, Maja ^{[1
,3
]}

Pfundt, Rolph ^{[2
]}

Bierhals, Tatjana ^{[1
]}

Casar, Christian ^{[4
]}

Mueller, Christian ^{[4
]}

Niermeijer, Jikke-Mien ^{[5
]}

Fischer, Jan ^{[6
]}

Jahn, Arne ^{[6
]}

Huebner, Christoph ^{[7
]}

Majore, Silvia ^{[8
]}

Agolini, Emanuele ^{[9
]}

Novelli, Antonio ^{[9
]}

van der Smagt, Jasper ^{[10
]}

Ernst, Robert ^{[10
]}

van Binsbergen, Ellen ^{[10
]}

Kamath, Arveen ^{[11
]}

Downie, Lilian ^{[12
,13
]}

Pais, Lynn ^{[14
]}

White, Sue ^{[12
,13
]}

de Vries, Bert B. A. ^{[2
]}

Kutsche, Kerstin ^{[1
]}

机构：

[1] Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany

[2] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, Nijmegen, Netherlands

[3] Univ Heidelberg Hosp, Inst Human Genet, Heidelberg, Germany

[4] Univ Med Ctr Hamburg Eppendorf, Bioinformat Core, Hamburg, Germany

[5] Elisabeth TweeSteden Hosp, Dept Neurol, Tilburg, Netherlands

[6] Tech Univ Dresden, Univ Hosp Carl Gustav Carus, Inst Clin Genet, Dresden, Germany

[7] Tech Univ Dresden, Univ Hosp Carl Gustav Carus, Dept Neuropaediatr, Dresden, Germany

[8] Sapienza Univ, San Camillo Forlanini Hosp, Div Med Genet, Dept Expt Med, Rome, Italy

[9] IRCCS, Bambino Gesu Children Hosp, Translat Cytogen Res Unit, Lab Med Genet, Rome, Italy

[10] Univ Utrecht, Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands

[11] Univ Hosp Wales, All Wales Med Genom Serv, Cardiff, Wales

[12] Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Parkville, Vic, Australia

[13] Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia

[14] Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, England

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P09.015.C

引用

页码：458 / 459

页数：2

共 50 条

[11] De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy
Sajan, Samin A.
Gradisch, Ralph
Vogel, Florian D.
Coffey, Alison J.
Salyakina, Daria
Soler, Diana
Jayakar, Parul
Jayakar, Anuj
Bianconi, Simona E.
Cooper, Annina H.
Liu, Shuxi
William, Nancy
Benkel-Herrenbrueck, Ira
Maiwald, Robert
Heller, Corina
Biskup, Saskia
Leiz, Steffen
Westphal, Dominik S.
Wagner, Matias
Clarke, Amy
Stockner, Thomas
Ernst, Margot
Kesari, Akanchha
Krenn, Martin
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 (08) : 912 - 919
[12] SET de novo frameshift variants associated with developmental delay and intellectual disabilities
Ruth Richardson
Miranda Splitt
Ruth Newbury-Ecob
Alice Hulbert
Joanna Kennedy
Astrid Weber
European Journal of Human Genetics, 2018, 26 : 1306 - 1311
[13] SET de novo frameshift variants associated with developmental delay and intellectual disabilities
Richardson, Ruth
Splitt, Miranda
Newbury-Ecob, Ruth
Hulbert, Alice
Kennedy, Joanna
Weber, Astrid
EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 (09) : 1306 - 1311
[14] De novo variants in KCNA3 cause developmental and epileptic encephalopathy
Soldovieri, Maria Virginia
Ambrosino, Paolo
Mosca, Ilaria
Servettini, Ilenio
Pietrunti, Francesca
Belperio, Georgio
Bast, Thomas
Benke, Paul
Dietel, Tobias
Ellard, Sian
Gardham, Alice
Hughes, Susan
Jain, Vain
Lichty, Angie
Louie, Raymond
Mehta, Sarju
Moore, Sandra
Platzer, Konrad
Prijoles, Eloise
Sauders, Carol J.
Schieving, Jolanda
Sullivan, Bonnie R.
Udell, Brian
van Bon, Bregje
Verhoeven, Judith S.
Syrbe, Steffen
Taglialatela, Maurizio
Lemke, Johannes
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 49 - 49
[15] De novo variants in KCNA3 cause developmental and epileptic encephalopathy
Lemke, J.
Soldovieri, M. V.
Ambrosino, P.
Mosca, I.
Servettini, I.
Pietrunti, F.
Belperio, G.
Syrbe, S.
Taglialatela, M.
EPILEPSIA, 2024, 65 : 38 - 39
[16] De novo variants in KCNA3 cause developmental and epileptic encephalopathy
Soldovieri, Maria Virginia
Ambrosino, Paolo
Mosca, Ilaria
Servettini, Ilenio
Pietrunti, Francesca
Belperio, Giorgio
Syrbe, Steffen
Taglialatela, Maurizio
Lemke, Johannes R.
ANNALS OF NEUROLOGY, 2024, 95 (02) : 365 - 376
[17] De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms
Powis, Z.
Petrik, I.
Cohen, J. S.
Escolar, D.
Burton, J.
van Ravenswaaij-Arts, C. M. A.
Sival, D. A.
Stegmann, A. P. A.
Kleefstra, T.
Pfundt, R.
Chikarmane, R.
Begtrup, A.
Huether, R.
Tang, S.
Shinde, D. N.
CLINICAL GENETICS, 2018, 93 (05) : 1030 - 1038
[18] De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children
Ahmad, Natalie
Fazeli, Walid
Schliesske, Sophia
Lesca, Gaetan
Gokce-Samar, Zeynep
Mekbib, Kedous Y.
Jin, Sheng Chih
Burton, Jennifer
Hoganson, George
Petersen, Andrea
Gracie, Sara
Granger, Leslie
Bartels, Enrika
Oppermann, Henry
Kundishora, Adam
Till, Marianne
Milleret-Pignot, Clara
Danger, Shane
Viskochil, David
Anderson, Katherine J.
Palculict, Timothy Blake
Schnur, Rhonda E.
Wentzensen, Ingrid M.
Tiller, George E.
Kahle, Kristopher T.
Kunz, Wolfram S.
Burkart, Sebastian
Simons, Matias
Sticht, Heinrich
Abou Jamra, Rami
Neuser, Sonja
PEDIATRIC NEUROLOGY, 2023, 148 : 164 - 171
[19] Double trouble? - Interpretation of two de novo variants in a case of syndromic developmental delay
Geuer, Sinje
Alt, Kerstin
Hartmann, Silke
EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 225 - 225
[20] De novo variants in the PABP domain of PABPC1 lead to developmental delay
Wegler, Meret
Jia, Xiangbin
Alders, Marielle
Bouman, Arjan
Chen, Jia
Duan, Xinyu
Lauzon, Julie L.
Mathijssen, Inge B.
Sticht, Heinrich
Syrbe, Steffen
Tan, Senwei
Guo, Hui
Abou Jamra, Rami
GENETICS IN MEDICINE, 2022, 24 (08) : 1761 - 1773

← 1 2 3 4 5 →