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Works (11)

Beyond genetics: Deciphering the impact of missense variants in CAD deficiency

Journal of Inherited Metabolic Disease
2023-11 | Journal article
DOI: 10.1002/jimd.12667
Contributors: Francisco del Caño‐Ochoa; Bobby G. Ng; Antonio Rubio‐del‐Campo; Sonal Mahajan; Matthew P. Wilson; Marçal Vilar; Daisy Rymen; Paula Sánchez‐Pintos; Joanna Kenny; Myriam Ley Martos et al.
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Homozygous truncating variant inMAN2A2causes a novel congenital disorder of glycosylation with neurological involvement

Journal of Medical Genetics
2023-07 | Journal article
DOI: 10.1136/jmg-2022-108821
Contributors: Sonal Mahajan; Bobby George Ng; Lama AlAbdi; Paul Daniel James Earnest; Paulina Sosicka; Nisha Patel; Rana Helaby; Firdous Abdulwahab; Miao He; Fowzan S Alkuraya et al.
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GLUT1 is a highly efficient L-fucose transporter

Journal of Biological Chemistry
2023-01 | Journal article
DOI: 10.1016/j.jbc.2022.102738
Contributors: Bobby G. Ng; Paulina Sosicka; Zhijie Xia; Hudson H. Freeze
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Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation

Journal of Medical Genetics
2022-11 | Journal article
DOI: 10.1136/jmedgenet-2021-108177
Contributors: Shino Shimada; Bobby G Ng; Amy L White; Kim K Nickander; Coleman Turgeon; Kristen L Liedtke; Christina T Lam; Esperanza Font-Montgomery; Charles M Lourenco; Miao He et al.
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Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

Journal of Inherited Metabolic Disease
2020-11 | Journal article
DOI: 10.1002/jimd.12290
Contributors: Bobby G. Ng; Erik A. Eklund; Sergey A. Shiryaev; Yin Y. Dong; Mary‐Alice Abbott; Carla Asteggiano; Michael J. Bamshad; Eileen Barr; Jonathan A. Bernstein; Shabeed Chelakkadan et al.
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Expanding the molecular and clinical phenotypes of FUT8‐CDG

Journal of Inherited Metabolic Disease
2020-07 | Journal article
DOI: 10.1002/jimd.12221
Contributors: Bobby G. Ng; Hassan Dastsooz; Mohammad Silawi; Parham Habibzadeh; Shima B. Jahan; Mohammad A. F. Fard; Benjamin J. Halliday; Kimiyo Raymond; Maura R. Z. Ruzhnikov; Zahra Tabatabaei et al.
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Cell-based analysis ofCADvariants identifies individuals likely to benefit from uridine therapy

2020-03-12 | Preprint
DOI: 10.1101/2020.03.11.987651
Contributors: Francisco del Caño-Ochoa; Bobby G. Ng; Malak Abedalthagafi; Mohammed Almannai; Ronald D. Cohn; Gregory Costain; Orly Elpeleg; Henry Houlden; Ehsan Ghayoor Karimiani; Pengfei Liu et al.
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Mutations in the translocon‐associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation

Journal of Inherited Metabolic Disease
2019-09 | Journal article
DOI: 10.1002/jimd.12091
Contributors: Bobby G. Ng; Charles M. Lourenço; Marie‐Estelle Losfeld; Kati J. Buckingham; Martin Kircher; Deborah A. Nickerson; Jay Shendure; Michael J. Bamshad; Hudson H. Freeze
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ALG11‐CDG syndrome: Expanding the phenotype

American Journal of Medical Genetics Part A
2019-03 | Journal article
DOI: 10.1002/ajmg.a.61046
Contributors: Maria K. Haanpää; Bobby G. Ng; Natalie M. Gallant; Kathryn E. Singh; Candida Brown; Virginia Kimonis; Hudson H. Freeze; Eric A. Muller, II
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Cover Image, Volume 179A, Number 3, March 2019

American Journal of Medical Genetics Part A
2019-03 | Journal article
DOI: 10.1002/ajmg.a.61077
Contributors: Maria K. Haanpää; Bobby G. Ng; Natalie M. Gallant; Kathryn E. Singh; Candida Brown; Virginia Kimonis; Hudson H. Freeze; Eric A. Muller, II
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Encephalopathy caused by novel mutations in the CMP‐sialic acid transporter, SLC35A1

American Journal of Medical Genetics Part A
2017-11 | Journal article
DOI: 10.1002/ajmg.a.38412
Contributors: Bobby G. Ng; Carla G. Asteggiano; Martin Kircher; Kati J. Buckingham; Kimiyo Raymond; Deborah A. Nickerson; Jay Shendure; Michael J. Bamshad; Matthias Ensslen; Hudson H. Freeze
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