Publications:

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A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy.

Cold Spring Harbor Molecular Case Studies

C Cömert, L Brick, D Ang, J Palmfeldt, BF Meaney, M Kozenko, C Georgopoulos, P Fernandez-Guerra, P Bross

Publication Date: 2020-06

Variant appearance in text: ACADS: 625G>A

PMID: 32532876

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Riboflavin Deficiency-Implications for General Human Health and Inborn Errors of Metabolism.

International Journal Of Molecular Sciences

S Mosegaard, G Dipace, P Bross, J Carlsen, N Gregersen, RKJ Olsen

Publication Date: 2020-05-28

Variant appearance in text: ACADS: 625G>A

PMID: 32481712

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Pervasive Inter-Individual Variation in Allele-Specific Expression in Monozygotic Twins.

Frontiers In Genetics

R da Silva Francisco Junior, C Dos Santos Ferreira, JC Santos E Silva, D Terra Machado, Y Côrtes Martins, V Ramos, G Simões Carnivali, AB Garcia, E Medina-Acosta

Publication Date: 2019

Variant appearance in text: rs1799958

PMID: 31850058

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Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.

Frontiers In Genetics

T Wang, J Ma, Q Zhang, A Gao, Q Wang, H Li, J Xiang, B Wang

Publication Date: 2019

Variant appearance in text: ACADS: 625G>A

PMID: 31737040

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New Ratios for Performance Improvement for Identifying Acyl-CoA Dehydrogenase Deficiencies in Expanded Newborn Screening: A Retrospective Study.

Frontiers In Genetics

B Wang, Q Zhang, A Gao, Q Wang, J Ma, H Li, T Wang

Publication Date: 2019

Variant appearance in text: ACADS: 625G>A

PMID: 31620161

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Investigation of new candidate genes in retinoblastoma using the TruSight One "clinical exome" gene panel.

Molecular Genetics & Genomic Medicine

D Akdeniz, SB Tuncer, R Kebudi, B Celik, G Kuru, S Kilic, O Sukruoglu Erdogan, M Avsar, S Buyukkapu Bay, S Tuncer, H Yazici

Publication Date: 2019-08

Variant appearance in text: ACADS: Gly209Ser; rs1799958

PMID: 31207142

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Dynamic modelling of an ACADS genotype in fatty acid oxidation - Application of cellular models for the analysis of common genetic variants.

Plos One

K Matejka, F Stückler, M Salomon, R Ensenauer, E Reischl, L Hoerburger, H Grallert, G Kastenmüller, A Peters, H Daniel, J Krumsiek, FJ Theis, H Hauner, H Laumen

Publication Date: 2019

Variant appearance in text: ACADS: 625G>A; G209S; rs1799958

PMID: 31120904

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Fatty acid oxidation disorders.

Annals Of Translational Medicine

JL Merritt, M Norris, S Kanungo

Publication Date: 2018-12

Variant appearance in text: ACADS: 625G>A

PMID: 30740404

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Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Scientific Reports

D Tang, M Fakiola, G Syn, D Anderson, HJ Cordell, ESH Scaman, E Davis, SJ Miles, T McLeay, SE Jamieson, T Lassmann, JM Blackwell

Publication Date: 2018-07-19

Variant appearance in text: ACADS: 625G>A; Gly209Ser; rs1799958

PMID: 30026549

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An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.

Bmc Medical Genetics

J Lisyová, J Chandoga, P Jungová, M Repiský, M Knapková, M Machková, S Dluholucký, D Behúlová, J Šaligová, Ľ Potočňáková, M Lysinová, D Böhmer

Publication Date: 2018-04-20

Variant appearance in text: SCAD: 625G>A; rs1799958

PMID: 29678161

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Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population.

Nature Communications

NA Yousri, KA Fakhro, A Robay, JL Rodriguez-Flores, RP Mohney, H Zeriri, T Odeh, SA Kader, EK Aldous, G Thareja, M Kumar, A Al-Shakaki, OM Chidiac, YA Mohamoud, JG Mezey, JA Malek, RG Crystal, K Suhre

Publication Date: 2018-01-23

Variant appearance in text: ACADS: Gly209Ser; rs1799958

PMID: 29362361

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Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review.

Korean Journal Of Pediatrics

SJ An, SZ Kim, GH Kim, HW Yoo, HH Lim

Publication Date: 2016-11

Variant appearance in text: ACADS: 625G>A

PMID: 28018444

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[An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics

JQ Tan, DY Chen, ZT Li, JW Huang, TZ Yan, R Cai

Publication Date: 2016-10

Variant appearance in text: ACADS: 625G>A; Gly209Ser

PMID: 27751224

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Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death.

Plos One

MV Zaragoza, L Fung, E Jensen, F Oh, K Cung, LA McCarthy, CK Tran, V Hoang, SA Hakim, A Grosberg

Publication Date: 2016

Variant appearance in text: ACADS: 625G>A; rs1799958

PMID: 27182706

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Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation.

Bba Clinical

R Tonin, A Caciotti, S Funghini, E Pasquini, SD Mooney, B Cai, E Proncopio, MA Donati, F Baronio, I Bettocchi, A Cassio, G Biasucci, A Bordugo, G la Marca, R Guerrini, A Morrone

Publication Date: 2016-06

Variant appearance in text: SCAD: Gly209Ser

PMID: 27051597

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Disease variants in genomes of 44 centenarians.

Molecular Genetics & Genomic Medicine

Y Freudenberg-Hua, J Freudenberg, V Vacic, A Abhyankar, AK Emde, D Ben-Avraham, N Barzilai, D Oschwald, E Christen, J Koppel, B Greenwald, RB Darnell, S Germer, G Atzmon, P Davies

Publication Date: 2014-09

Variant appearance in text: ACADS: G209S; rs1799958

PMID: 25333069

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Metabolic heritability at birth: implications for chronic disease research.

Human Genetics

KK Ryckman, CJ Smith, LL Jelliffe-Pawlowski, AM Momany, SL Berberich, JC Murray

Publication Date: 2014-08

Variant appearance in text: rs1799958

PMID: 24850141

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Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.

Developmental Disabilities Research Reviews

SE Waisbren, Y Landau, J Wilson, J Vockley

Publication Date: 2013

Variant appearance in text: SCAD: 625G>A

PMID: 23798014

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Applying Genomic Analysis to Newborn Screening.

Molecular Syndromology

BD Solomon, DE Pineda-Alvarez, KA Bear, JC Mullikin, JP Evans,

Publication Date: 2012-08

Variant appearance in text: ACADS: 625G>A; rs1799958

PMID: 23112750

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Vulnerability to oxidative stress in vitro in pathophysiology of mitochondrial short-chain acyl-CoA dehydrogenase deficiency: response to antioxidants.

Plos One

Z Zolkipli, CB Pedersen, AM Lamhonwah, N Gregersen, I Tein

Publication Date: 2011-04-01

Variant appearance in text: ACADS: 625G>A

PMID: 21483766

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Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.

Journal Of Inherited Metabolic Disease

BT van Maldegem, RJ Wanders, FA Wijburg

Publication Date: 2010-10

Variant appearance in text: ACADS: 625G>A

PMID: 20429031

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CLOCK is suggested to associate with comorbid alcohol use and depressive disorders.

Journal Of Circadian Rhythms

LK Sjöholm, L Kovanen, ST Saarikoski, M Schalling, C Lavebratt, T Partonen

Publication Date: 2010-01-21

Variant appearance in text: rs1799958

PMID: 20180986

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NPAS2 and PER2 are linked to risk factors of the metabolic syndrome.

Journal Of Circadian Rhythms

A Englund, L Kovanen, ST Saarikoski, J Haukka, A Reunanen, A Aromaa, J Lönnqvist, T Partonen

Publication Date: 2009-05-26

Variant appearance in text: rs1799958

PMID: 19470168

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Alternative transcript annotations:

Transcript	cDNA	Protein	Consequence	Exon	Intron
ENST00000242592.4	c.625G>A	p.Gly209Ser	missense_variant,splice_region_variant	6/10	-
ENST00000411593.2	c.613G>A	p.Gly205Ser	missense_variant,splice_region_variant	6/10	-
NM_000017.4	c.625G>A	p.Gly209Ser	missense_variant,splice_region_variant	6/10	-
NM_001302554.2	c.613G>A	p.Gly205Ser	missense_variant,splice_region_variant	6/10	-