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1 . Academic Journal
Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report
저자
by
Denis M. Nyaga
;
Michael S. Hildebrand
;
Guillem deValles‐Ibáñez
;
Ngaire F. Keenan
;
Zimeng Ye
, et al.
소스
Epilepsia Open, Vol 9, Iss 2, Pp 758-764 (2024)
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7 . Academic Journal
STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci
저자
by
Harriet Dashnow
;
Brent S. Pedersen
;
Laurel Hiatt
;
Joe Brown
;
Sarah J. Beecroft
, et al.
소스
Genome Biology, Vol 23, Iss 1, Pp 1-20 (2022)
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7 . Academic Journal
Mutations of the DNA repair gene PNKP in a patient with microcephaly, seizures, and developmental delay (MCSZ) presenting with a high-grade brain tumor
저자
by
Bingcheng Jiang
;
Cameron Murray
;
Bonnie L. Cole
;
J. N. Mark Glover
;
Gordon K. Chan
, et al.
소스
Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022)
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7 . Academic Journal
Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery
저자
by
Karen L. Oliver
;
Colin A. Ellis
;
Ingrid E. Scheffer
;
Shiva Ganesan
;
Costin Leu
, et al.
소스
EBioMedicine, Vol 81, Iss , Pp 104079- (2022)
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7 . Academic Journal
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism
저자
by
Francesco Miceli
;
Charissa Millevert
;
Maria Virginia Soldovieri
;
Ilaria Mosca
;
Paolo Ambrosino
, et al.
소스
EBioMedicine, Vol 81, Iss , Pp 104130- (2022)
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7 . Academic Journal
Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families
저자
by
Jennifer S. Jeffrey
;
Janet Leathem
;
Chontelle King
;
Heather C. Mefford
;
Kirsty Ross
, et al.
소스
Epilepsia Open, Vol 6, Iss 1, Pp 149-159 (2021)
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7 . Academic Journal
A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay
저자
by
Dianne Laboy Cintron
;
Alison M. Muir
;
Abbey Scott
;
Marie McDonald
;
Kristin G. Monaghan
, et al.
소스
HGG Advances, Vol 3, Iss 1, Pp 100072- (2022)
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7 . Academic Journal
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
저자
by
Hui Guo
;
Elisa Bettella
;
Paul C. Marcogliese
;
Rongjuan Zhao
;
Jonathan C. Andrews
, et al.
소스
Nature Communications, Vol 10, Iss 1, Pp 1-17 (2019)
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7 . Academic Journal
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
저자
by
Vincenzo Salpietro
;
Christine L. Dixon
;
Hui Guo
;
Oscar D. Bello
;
Jana Vandrovcova
, et al.
소스
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
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7 . Academic Journal
SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families
저자
by
Diana M. Cornejo-Sanchez
;
Anushree Acharya
;
Thashi Bharadwaj
;
Lizeth Marin-Gomez
;
Pilar Pereira-Gomez
, et al.
소스
Genes, Vol 13, Iss 5, p 754 (2022)
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