换一批Predominant and novel de novo variants in 29 individuals withALG13deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions
作者：
Ng, Bobby G. [1]
;
Eklund, Erik A. [2]
;
Shiryaev, Sergey A. [3]
;
Dong, Yin Y. [4]
;
Abbott, Mary-Alice [5]
;
Asteggiano, Carla [6]
;
Bamshad, Michael J. [7]
;
Barr, Eileen [8]
;
Bernstein, Jonathan A. [9]
;
Chelakkadan, Shabeed [10]
;
Christodoulou, John [11]
;
Chung, Wendy K. [12]
;
Ciliberto, Michael A. [13]
;
Cousin, Janice [14]
;
Gardiner, Fiona [15]
;
Ghosh, Suman [16]
;
Graf, William D. [17]
;
Grunewald, Stephanie [18]
;
Hammond, Katherine [19]
;
Hauser, Natalie S. [20]
;
Hoganson, George E. [21]
;
Houck, Kimberly M. [22]
;
Kohler, Jennefer N. [23]
;
Morava, Eva [24]
;
Larson, Austin A. [25]
;
Liu, Pengfei [26]
;
Madathil, Sujana [27]
;
McCormack, Colleen [28]
;
Meeks, Naomi J. L. [29]
;
Miller, Rebecca [30]
;
Monaghan, Kristin G. [31]
;
Nickerson, Deborah A. [32]
;
Palculict, Timothy Blake [33]
;
Papazoglu, Gabriela Magali ;
Pletcher, Beth A. ;
Scheffer, Ingrid E. ;
Schenone, Andrea Beatriz ;
Schnur, Rhonda E. ;
Si, Yue ;
Rowe, Leah J. ;
Russi, Alvaro H. Serrano ;
Russo, Rossana Sanchez ;
Thabet, Farouq ;
Tuite, Allysa ;
Villanueva, Maria Mercedes ;
Wang, Raymond Y. ;
Webster, Richard, I ;
Wilson, Dorcas ;
Zalan, Alice ;
Wolfe, Lynne A. ;
Rosenfeld, Jill A. ;
Rhodes, Lindsay ;
Freeze, Hudson H.
作者单位：
Sanford Burnham Prebys Med Discovery Inst, Sanford Childrens Hlth Res Ctr, Human Genet Program, La
[1]
Univ Oxford, Nuffield Dept Clin Neurosci, Oxford, England
[2]
Univ Massachusetts, Med Sch Baystate, Baystate Childrens Hosp, Dept Pediat, Springfield, MA USA
[3]
Natl Univ Cordoba, Children Hosp, Sch Med, CEMECO,CONICET, Cordoba, Argentina
[4]
Univ Washington, Dept Pediat, Seattle, WA 98195 USA
[5]
Emory Univ, Dept Human Genet, Atlanta, GA 30322 USA
[6]
Stanford Univ, Sch Med, Stanford, CA 94305 USA
[7]
Monash Childrens Hosp, Melbourne, Vic, Australia
[8]
Royal Childrens Hosp, Murdoch Childrens Res Inst, Brain & Mitochondrial Res Grp, Melbourne, Vic
[9]
Columbia Univ, Dept Pediat, New York, NY 10027 USA
[10]
Univ Iowa Hosp & Clin, Dept Pediat, Iowa City, IA 52242 USA
[11]
NHGRI, Sect Human Biochem Genet, Bethesda, MD 20892 USA
[12]
Univ Melbourne, Austin Hlth, Melbourne, Vic, Australia
[13]
Univ Florida, Coll Med, Dept Pediat, Div Pediat Neurol, Gainesville, FL USA
[14]
Univ Connecticut, Dept Pediat, Div Pediat Neurol, Connecticut Childrens, Farmington, CT USA
[15]
UCL, Great Ormond St Hosp, NIHR Biomed Res Ctr, Metab Med Dept,Inst Child Hlth, London, England
[16]
Univ Alabama Birmingham, Dept Pediat, Div Pediat Neurol, Birmingham, AL USA
[17]
Inova Fairfax Hosp Falls Church, Div Med Genom, Inova Translat Med Inst, Falls Church, VA USA
[18]
Univ Illinois, Dept Pediat, Chicago, IL USA
[19]
Baylor Coll Med, Dept Pediat, Sect Neurol & Dev Neurosci, Houston, TX 77030 USA
[20]
Mayo Clin, Dept Clin Genom, Rochester, MN USA
[21]
Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO USA
[22]
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[23]
GeneDx Inc Lab, Gaithersburg, MD USA
[24]
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA
[25]
Rutgers New Jersey Med Sch, Dept Pediat, Newark, NJ USA
[26]
Lab Neuroquim Dr NA Chamoles FESEN, Buenos Aires, DF, Argentina
[27]
Univ Southern Calif, Childrens Hosp Los Angeles, Div Med Genet, Los Angeles, CA 90007 USA
[28]
MercyOne Pediat Neurol, Des Moines, IA USA
[29]
Childrens Hosp Orange Cty, Div Metab Disorders, Orange, CA 92668 USA
[30]
Childrens Hosp, TY Nelson Dept Neurol & Neurosurg, Westmead, NSW, Australia
[31]
Netcare Sunninghill Hosp, Sandton, South Africa
[32]
NIH, Undiagnosed Dis Program, Common Fund, Bldg 10, Bethesda, MD 20892 USA
[33]
发布时间
2022-09-10
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