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Search Results - Otieno, Frederick G.
Search Results - Otieno, Frederick G.
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Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis
by
Martignetti, John A.
,
Tian, Lifeng
,
Li, Dong
,
Ramirez, Maria Celeste M.
,
Camacho-Vanegas, Olga
,
Camacho, Sandra Catalina
,
Guo, Yiran
,
Zand, Dina J.
,
Bernstein, Audrey M.
,
Masur, Sandra K.
,
Kim, Cecilia E.
,
Otieno, Frederick G.
,
Hou, Cuiping
,
Abdel-Magid, Nada
,
Tweddale, Ben
,
Metry, Denise
,
Fournet, Jean-Christophe
,
Papp, Eniko
,
McPherson, Elizabeth W.
,
Zabel, Carrie
,
Vaksmann, Guy
,
Morisot, Cyril
,
Keating, Brendan
,
Sleiman, Patrick M.
,
Cleveland, Jeffrey A.
,
Everman, David B.
,
Zackai, Elaine
,
Hakonarson, Hakon
Published in
American journal of human genetics
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Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder
by
Keller, Michael D., MD
,
Pandey, Rahul, PhD
,
Li, Dong, PhD
,
Glessner, Joseph, PhD
,
Tian, Lifeng, PhD
,
Henrickson, Sarah E., MD, PhD
,
Chinn, Ivan K., MD
,
Monaco-Shawver, Linda, BSc
,
Heimall, Jennifer, MD
,
Hou, Cuiping, BSc
,
Otieno, Frederick G., MS
,
Jyonouchi, Soma, MD
,
Calabrese, Leonard, DO
,
van Montfrans, Joris, MD
,
Orange, Jordan S., MD, PhD
,
Hakonarson, Hakon, MD, PhD
Published in
Journal of allergy and clinical immunology
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Whole-genome sequencing in an autism multiplex family
by
Shi, Lingling
,
Zhang, Xu
,
Golhar, Ryan
,
Otieno, Frederick G
,
He, Mingze
,
Hou, Cuiping
,
Kim, Cecilia
,
Keating, Brendan
,
Lyon, Gholson J
,
Wang, Kai
,
Hakonarson, Hakon
Published in
Molecular autism
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Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement
by
Wang, Kai
,
Kim, Cecilia
,
Bradfield, Jonathan
,
Guo, Yunfei
,
Toskala, Elina
,
Otieno, Frederick G
,
Hou, Cuiping
,
Thomas, Kelly
,
Cardinale, Christopher
,
Lyon, Gholson J
,
Golhar, Ryan
,
Hakonarson, Hakon
Published in
Genome medicine
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Strong synaptic transmission impact by copy number variations in schizophrenia
by
Glessner, Joseph T.
,
Reilly, Muredach P.
,
Kim, Cecilia E.
,
Takahashi, Nagahide
,
Albano, Anthony
,
Hou, Cuiping
,
Bradfield, Jonathan P.
,
Zhang, Haitao
,
Sleiman, Patrick M. A.
,
Flory, James H.
,
Imielinski, Marcin
,
Frackelton, Edward C.
,
Chiavacci, Rosetta
,
Thomas, Kelly A.
,
Garris, Maria
,
Otieno, Frederick G.
,
Davidson, Michael
,
Weiser, Mark
,
Reichenberg, Abraham
,
Davis, Kenneth L.
,
Friedman, Joseph I.
,
Cappola, Thomas P.
,
Margulies, Kenneth B.
,
Rader, Daniel J.
,
Grant, Struan F. A.
,
Buxbaum, Joseph D.
,
Gur, Raquel E.
,
Hakonarson, Hakon
,
Lupski, James R.
Published in
Proceedings of the National Academy of Sciences - PNAS
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AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate
by
Falk, Marni J.
,
Li, Dong
,
Gai, Xiaowu
,
McCormick, Elizabeth
,
Place, Emily
,
Lasorsa, Francesco M.
,
Otieno, Frederick G.
,
Hou, Cuiping
,
Kim, Cecilia E.
,
Abdel-Magid, Nada
,
Vazquez, Lyam
,
Mentch, Frank D.
,
Chiavacci, Rosetta
,
Liang, Jinlong
,
Liu, Xuanzhu
,
Jiang, Hui
,
Giannuzzi, Giulia
,
Marsh, Eric D.
,
Yiran, Guo
,
Tian, Lifeng
,
Palmieri, Ferdinando
,
Hakonarson, Hakon
Published in
JIMD Reports, Volume 14
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Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population
by
Matsunami, Nori
,
Hensel, Charles H
,
Baird, Lisa
,
Stevens, Jeff
,
Otterud, Brith
,
Leppert, Tami
,
Varvil, Tena
,
Hadley, Dexter
,
Glessner, Joseph T
,
Pellegrino, Renata
,
Kim, Cecilia
,
Thomas, Kelly
,
Wang, Fengxiang
,
Otieno, Frederick G
,
Ho, Karen
,
Christensen, Gerald B
,
Li, Dongying
,
Prekeris, Rytis
,
Lambert, Christophe G
,
Hakonarson, Hakon
,
Leppert, Mark F
Published in
Molecular autism
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Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate
by
Falk, Marni J.
,
Li, Dong
,
Gai, Xiaowu
,
McCormick, Elizabeth
,
Place, Emily
,
Lasorsa, Francesco M.
,
Otieno, Frederick G.
,
Hou, Cuiping
,
Kim, Cecilia E.
,
Abdel-Magid, Nada
,
Vazquez, Lyam
,
Mentch, Frank D.
,
Chiavacci, Rosetta
,
Liang, Jinlong
,
Liu, Xuanzhu
,
Jiang, Hui
,
Giannuzzi, Giulia
,
Marsh, Eric D.
,
Guo, Yiran
,
Tian, Lifeng
,
Palmieri, Ferdinando
,
Hakonarson, Hakon
Published in
JIMD Reports, Volume 14
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A novel mutation in the SLC25A12 gene causing mitochondrial aspartate/glutamate carrier 1 (AGC1) deficiency
by
Falk, Marni J.
,
Lasorsa, Francesco M.
,
Li, Dong
,
Gai, Xiaowu
,
McCormick, Elizabeth
,
Place, Emily
,
Otieno, Frederick G.
,
Hou, Cuiping
,
Kim, Cecilia E.
,
Abdel-Magid, Nada
,
Vazquez, Lyam
,
Mentch, Frank D.
,
Chiavacci, Rosetta
,
Liang, Jinlong
,
Fiermonte, Giuseppe
,
Liu, Xuanzhu
,
Jiang, Hui
,
Giannuzzi, Giulia
,
Marsh, Eric D.
,
Guo, Yiran
,
Tian, Lifeng
,
Palmieri, Ferdinando
,
Hakonarson, Hakon
Published in
Biochimica et biophysica acta. Bioenergetics
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