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Biblio
Author
Title
Type
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Lupski, James R
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2024
Banks E
,
Francis V
,
Lin S-J
,
Kharfallah F
,
Fonov V
,
Levesque M
,
Han C
,
Kulasekaran G
,
Tuznik M
,
Bayati A
, et al.
Loss of symmetric cell division of apical neural progenitors drives -related developmental and epileptic encephalopathy.
medRxiv. 2024.
PubMed
Google Scholar
2023
Maroofian R
,
Kaiyrzhanov R
,
Cali E
,
Zamani M
,
Zaki MS
,
Ferla M
,
Tortora D
,
Sadeghian S
,
Saadi SMaryam
,
Abdullah U
, et al.
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Brain. 2023.
PubMed
Google Scholar
2022
Khalaf-Nazzal R
,
Fasham J
,
Inskeep KA
,
Blizzard LE
,
Leslie JS
,
Wakeling MN
,
Ubeyratna N
,
Mitani T
,
Griffith JL
,
Baker W
, et al.
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Am J Hum Genet. 2022.
PubMed
Google Scholar
2021
Le Coz C
,
Nguyen DN
,
Su C
,
Nolan BE
,
Albrecht AV
,
Xhani S
,
Sun D
,
Demaree B
,
Pillarisetti P
,
Khanna C
, et al.
Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients.
J Exp Med. 2021;218(7).
PubMed
Google Scholar
2019
Burk CM
,
Coffey KE
,
Mace EM
,
Bostwick BL
,
Chinn IK
,
Coban-Akdemir ZH
,
Jhangiani SN
,
Lupski JR
,
Ortiz D
,
Barnum JL
, et al.
Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation.
J Allergy Clin Immunol Pract. 2019.
PubMed
Google Scholar