De novo variants in PPFIA2 in individuals with neurodevelopmental disorders - evidence for the first α-liprinopathy

被引：0

作者：

Brunet, Theresa ^{[1
,2
,3
]}

Zech, Michael ^{[1
,3
,4
]}

Schatz, Ulrich ^{[1
,3
]}

Adamovicova, Miriam ^{[5
]}

Wagner, Matias ^{[1
,2
,3
,4
]}

Graf, Elisabeth ^{[1
,3
]}

Berutti, Riccardo ^{[1
,3
,4
]}

Weigand-Brunnhoelzl, Heike ^{[2
]}

Jech, Robert ^{[6
,7
]}

Meitinger, Thomas ^{[1
,3
]}

Winkelmann, Juliane ^{[1
,3
,4
,8
,9
]}

Brugger, Melanie ^{[1
,3
]}

机构：

[1] Tech Univ Munich, Inst Human Genet, Sch Med, Klinikum Rechts Isar, Munich, Germany

[2] LMU Univ Munich, Dept Pediat Neurol & Dev Med, Dr v Hauner Childrens Hosp, Munich, Germany

[3] Bavarian Genomes Network Rare Disorders, Munich, Germany

[4] Helmholtz Zentrum Munchen, Inst Neurogen, Neuherberg, Germany

[5] Thomayer Hosp, Dept Paediat Neurol, Prague, Czech Republic

[6] Charles Univ Prague, Dept Neurol, Fac Med 1, Prague, Czech Republic

[7] Charles Univ Prague, Gen Univ Hosp Prague, Prague, Czech Republic

[8] Tech Univ Munich, Lehrstuhl Neurogenet, Munich, Germany

[9] Munich Cluster Syst Neurol, Munich, Germany

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：

P09.038.B

引用

页码：467 / 467

页数：1

共 50 条

[31] Clinical and Neuropsychological Phenotyping of Individuals With Somatic Variants in Neurodevelopmental Disorders
Mo, Alisa
Walsh, Christopher A.
NEUROLOGY-GENETICS, 2025, 11 (02)
[32] De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly
Ye, Yizhou
Cho, Megan T.
Retterer, Kyle
Alexander, Nora
Ben-Omran, Tawfeg
Al-Mureikhi, Mariam
Cristian, Ingrid
Wheeler, Patricia G.
Crain, Carrie
Zand, Dina
Weinstein, Veronique
Vernon, Hilary J.
McClellan, Rebecca
Krishnamurthy, Vidya
Vitazka, Patrik
Milian, Francisca
Chung, Wendy K.
COLD SPRING HARBOR MOLECULAR CASE STUDIES, 2015, 1 (01):
[33] De novo mutations in regulatory elements cause neurodevelopmental disorders
Short, P.
McRae, J.
Gallone, G.
Gerety, S.
Wright, C.
Firth, H.
FitzPatrick, D.
Barrett, J.
Hurles, M.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 41 - 42
[34] The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders
Turner, Tychele N.
Eichler, Evan E.
TRENDS IN NEUROSCIENCES, 2019, 42 (02) : 115 - 127
[35] Prediction of Neurodevelopmental Disorders Based on De Novo Coding Variation
Chow, Julie C.
Hormozdiari, Fereydoun
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, 2023, 53 (03) : 963 - 976
[36] Prediction of Neurodevelopmental Disorders Based on De Novo Coding Variation
Julie C. Chow
Fereydoun Hormozdiari
Journal of Autism and Developmental Disorders, 2023, 53 : 963 - 976
[37] Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
Kosmicki, Jack A.
Samocha, Kaitlin E.
Howrigan, Daniel P.
Sanders, Stephan J.
Slowikowski, Kamil
Lek, Monkol
Karczewski, Konrad J.
Cutler, David J.
Devlin, Bernie
Roeder, Kathryn
Buxbaum, Joseph D.
Neale, Benjamin M.
MacArthur, Daniel G.
Wall, Dennis P.
Robinson, Elise B.
Daly, Mark J.
NATURE GENETICS, 2017, 49 (04) : 504 - +
[38] De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues
Smits, Daphne J. J.
Schot, Rachel
Popescu, Cristiana A. A.
Dias, Kerith-Rae
Ades, Lesley
Briere, Lauren C. C.
Sweetser, David A. A.
Kushima, Itaru
Aleksic, Branko
Khan, Suliman
Karageorgou, Vasiliki
Ordonez, Natalia
Sleutels, Frank J. G. T.
van der Kaay, Danielle C. M.
Van Mol, Christine
Van Esch, Hilde
Bertoli-Avella, Aida M. M.
Roscioli, Tony
Mancini, Grazia M. S.
HUMAN GENETICS, 2023, 142 (07) : 949 - 964
[39] Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
Jack A Kosmicki
Kaitlin E Samocha
Daniel P Howrigan
Stephan J Sanders
Kamil Slowikowski
Monkol Lek
Konrad J Karczewski
David J Cutler
Bernie Devlin
Kathryn Roeder
Joseph D Buxbaum
Benjamin M Neale
Daniel G MacArthur
Dennis P Wall
Elise B Robinson
Mark J Daly
Nature Genetics, 2017, 49 : 504 - 510
[40] De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities
Bina, Roya
Matalon, Dena
Fregeau, Brieana
Tarsitano, Jacqueline Joani
Aukrust, Ingvild
Houge, Gunnar
Bend, Renee
Warren, Hannah
Stevenson, Roger E.
Stuurman, Kyra Eva
Barkovich, A. James
Sherr, Elliott H.
JOURNAL OF MEDICAL GENETICS, 2020, 57 (07) : 461 - 465

← 1 2 3 4 5 →