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Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions. [electronic resource] by
- Saha, Madhurima
- Mitsuhashi, Satomi
- Jones, Michael D
- Manko, Kelsey
- Reddy, Hemakumar M
- Bruels, Christine C
- Cho, Kyung-Ah
- Pacak, Christina A
- Draper, Isabelle
- Kang, Peter B
Producer: 20180108
In:
Human molecular genetics vol. 26
Availability: No items available.
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Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt. [electronic resource] by
- Reddy, Hemakumar M
- Hamed, Sherifa A
- Lek, Monkol
- Mitsuhashi, Satomi
- Estrella, Elicia
- Jones, Michael D
- Mahoney, Lane J
- Duncan, Anna R
- Cho, Kyung-Ah
- Macarthur, Daniel G
- Kunkel, Louis M
- Kang, Peter B
Producer: 20170703
In:
Muscle & nerve vol. 54
Availability: No items available.
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8.
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Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites. [electronic resource] by
- Bruels, Christine C
- Li, Chengcheng
- Mendoza, Tonatiuh
- Khan, Jamillah
- Reddy, Hemakumar M
- Estrella, Elicia A
- Ghosh, Partha S
- Darras, Basil T
- Lidov, Hart G W
- Pacak, Christina A
- Kunkel, Louis M
- Modave, François
- Draper, Isabelle
- Kang, Peter B
Producer: 20190508
In:
Molecular genetics & genomic medicine vol. 7
Availability: No items available.
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9.
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The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. [electronic resource] by
- Reddy, Hemakumar M
- Cho, Kyung-Ah
- Lek, Monkol
- Estrella, Elicia
- Valkanas, Elise
- Jones, Michael D
- Mitsuhashi, Satomi
- Darras, Basil T
- Amato, Anthony A
- Lidov, Hart Gw
- Brownstein, Catherine A
- Margulies, David M
- Yu, Timothy W
- Salih, Mustafa A
- Kunkel, Louis M
- MacArthur, Daniel G
- Kang, Peter B
Producer: 20170524
In:
Journal of human genetics vol. 62
Availability: No items available.
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10.
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Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. [electronic resource] by
- Saha, Madhurima
- Reddy, Hemakumar M
- Salih, Mustafa A
- Estrella, Elicia
- Jones, Michael D
- Mitsuhashi, Satomi
- Cho, Kyung-Ah
- Suzuki-Hatano, Silveli
- Rizzo, Skylar A
- Hamad, Muddathir H
- Mukhtar, Maowia M
- Hamed, Ahlam A
- Elseed, Maha A
- Lek, Monkol
- Valkanas, Elise
- MacArthur, Daniel G
- Kunkel, Louis M
- Pacak, Christina A
- Draper, Isabelle
- Kang, Peter B
Producer: 20190917
In:
Physiological genomics vol. 50
Availability: No items available.
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Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. [electronic resource] by
- Cummings, Beryl B
- Marshall, Jamie L
- Tukiainen, Taru
- Lek, Monkol
- Donkervoort, Sandra
- Foley, A Reghan
- Bolduc, Veronique
- Waddell, Leigh B
- Sandaradura, Sarah A
- O'Grady, Gina L
- Estrella, Elicia
- Reddy, Hemakumar M
- Zhao, Fengmei
- Weisburd, Ben
- Karczewski, Konrad J
- O'Donnell-Luria, Anne H
- Birnbaum, Daniel
- Sarkozy, Anna
- Hu, Ying
- Gonorazky, Hernan
- Claeys, Kristl
- Joshi, Himanshu
- Bournazos, Adam
- Oates, Emily C
- Ghaoui, Roula
- Davis, Mark R
- Laing, Nigel G
- Topf, Ana
- Kang, Peter B
- Beggs, Alan H
- North, Kathryn N
- Straub, Volker
- Dowling, James J
- Muntoni, Francesco
- Clarke, Nigel F
- Cooper, Sandra T
- Bönnemann, Carsten G
- MacArthur, Daniel G
Producer: 20170626
In:
Science translational medicine vol. 9
Availability: No items available.
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