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Sineni, Claire J.
21  results:
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1

Mutations inMINAR2encoding membrane integral NOTCH2-associa..:

Bademci, Guney ; Lachgar-Ruiz, María ; Deokar, Mangesh...
Proceedings of the National Academy of Sciences.  119 (2022)  26 - p. , 2022
Link: https://doi.org/10.1073/..
 
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2

A founder noncodingGALTvariant interfering with splicing ca..:

Latchman, Kumarie ; Brown, Jeanette ; Sineni, Claire J....
Journal of Inherited Metabolic Disease.  43 (2020)  6 - p. 1199-1204 , 2020
Link: https://doi.org/10.1002/..
 
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3

Novel variant p.E269K confirms causative role of PLS1 mutat..:

Diaz‐Horta, Oscar ; Bademci, Guney ; Tokgoz‐Yilmaz, Suna...
Clinical Genetics.  96 (2019)  6 - p. 575-578 , 2019
Link: https://doi.org/10.1111/..
 
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4

Identification of Main Genetic Causes Responsible for Non-S..:

Figueroa-Ildefonso, Erick ; Bademci, Guney ; Rajabli, Farid...
Genes.  10 (2019)  8 - p. 581 , 2019
Link: https://doi.org/10.3390/..
 
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5

A truncating CLDN9 variant is associated with autosomal rec..:

Sineni, Claire J. ; Yildirim-Baylan, Muzeyyen ; Guo, Shengru...
Human Genetics.  138 (2019)  10 - p. 1071-1075 , 2019
Link: https://doi.org/10.1007/..
 
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6

Identification of candidate gene FAM183A and novel pathogen..:

McSherry, Megan ; Masih, Katherine E. ; Elcioglu, Nursel H....
PLOS ONE.  13 (2018)  11 - p. e0208324 , 2018
Link: https://doi.org/10.1371/..
 
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7

FOXF2is required for cochlear development in humans and mic:

Bademci, Guney ; Abad, Clemer ; Incesulu, Armagan...
Human Molecular Genetics.  28 (2018)  8 - p. 1286-1297 , 2018
Link: https://doi.org/10.1093/..
 
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8

Mutations in MINAR2 encoding membrane integral NOTCH2-assoc..:

Bademci, Guney ; Lachgar-Ruiz, María ; Deokar, Mangesh...
http://nectar.northampton.ac.uk/16974/1/Bademci_etal_PNAS_2022_Mutations_in_MINAR2_encoding_membrane_integral_NOTCH2_associated_receptor_2_cause_deafness_in_humans_and_mice.pdf.  , 2022
Link: http://nectar.northampto..
 
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9

Mutations in MINAR2 encoding membrane integral NOTCH2-assoc..:

Bademci, Guney ; Lachgar-Ruiz, María ; Deokar, Mangesh...
Bademci , G , Lachgar-Ruiz , M , Deokar , M , Zafeer , M F , Abad , C , Yildirim Baylan , M , Ingham , N J , Chen , J , Sineni , C J , Vadgama , N , Karakikes , I , Guo , S , Duman , D , Singh , N , Harlalka , G , Jain , S P , Chioza , B A , Walz , K , Steel , K P , Nasir , J & Tekin , M 2022 , ' Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice ' , Proceedings of the National Academy of Sciences of the United States of America , vol. 119 , no. 26 , e2204084119 , pp. e2204084119 . https://doi.org/10.1073/pnas.2204084119.  , 2022
Link: https://kclpure.kcl.ac.u..
 
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10

Mutations in MINAR2 encoding membrane integral NOTCH2-assoc..:

Bademci, Guney ; Lachgar-Ruiz, María ; Deokar, Mangesh...
Bademci , G , Lachgar-Ruiz , M , Deokar , M , Zafeer , M F , Abad , C , Yildirim Baylan , M , Ingham , N J , Chen , J , Sineni , C J , Vadgama , N , Karakikes , I , Guo , S , Duman , D , Singh , N , Harlalka , G , Jain , S P , Chioza , B A , Walz , K , Steel , K P , Nasir , J & Tekin , M 2022 , ' Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice ' , Proceedings of the National Academy of Sciences of the United States of America , vol. 119 , no. 26 , e2204084119 , pp. e2204084119 . https://doi.org/10.1073/pnas.2204084119.  , 2022
Link: https://kclpure.kcl.ac.u..
 
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11

Mutations in MINAR2 encoding membrane integral NOTCH2-assoc..:

Bademci, Guney ; Lachgar-Ruiz, María ; Deokar, Mangesh...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9245706/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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12

Mutations in MINAR2 encoding membrane integral NOTCH2-assoc..:

Bademci, Guney ; Lachgar-Ruiz, María ; Deokar, Mangesh...
Bademci , G , Lachgar-Ruiz , M , Deokar , M , Zafeer , M F , Abad , C , Baylan , M Y , Ingham , N , Chen , J , Sineni , C , Vadgama , N , Karakikes , I , Guo , S , Duman , D , Singh , N , Harlalka , G , Chioza , B , Walz , K , Steel , K P , Nasir , J & Tekin , M 2022 , ' Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice ' , Proceedings of the National Academy of Sciences of the United States of America , vol. 119 , no. 26 , e2204084119 . https://doi.org/10.1073/pnas.2204084119.  , 2022
Link: https://pure.northampton..
 
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13

Long-range cis-regulatory elements controlling GDF6 express..:

Bademci, Guney ; Abad, Clemer ; Cengiz, Filiz B...
Bademci , G , Abad , C , Cengiz , F B , Seyhan , S , Incesulu , A , Guo , S , Fitoz , S , Atli , E I , Gosstola , N C , Demir , S , Colbert , B M , Seyhan , G C , Sineni , C J , Duman , D , Gurkan , H , Morton , C C , Dykxhoorn , D M , Walz , K & Tekin , M 2020 , ' Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development ' , Journal of Clinical Investigation . https://doi.org/10.1172/JCI136951.  , 2020
Link: https://research.manches..
 
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14

Long-range cis-regulatory elements controlling GDF6 express..:

Bademci, Guney ; Abad, Clemer ; Cengiz, Filiz B...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7410044/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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15

Long-range cis-regulatory elements controlling GDF6 express..:

Cengiz, FİLİZ BAŞAK ; Abad, Clemer ; Bademci, Guney...
6c658639-5534-47bd-84de-38d22289d916.  , 2020
Link: https://doi.org/10.1172/..
 
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