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A. Haghighi · SciRah

Researcher profile · Semantic Scholar

A. Haghighi

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A. Haghighi — researcher profile on SciRah

h-index: 17
Works: 37
Citations: 1,465

Most-cited papers

Titin Mutations in iPS cells Define Sarcomere Insufficiency as a Cause of Dilated Cardiomyopathy
J. T. Hinson, Anant Chopra, N. Nafissi, William J. Polacheck +15 more
2015Science588 citations Open access
Semantic Scholar
Genetic and phenotypic landscape of peripartum cardiomyopathy
Rahul Goli, Jian Li, J. Brandimarto, L. Levine +27 more
2021Circulation137 citations Open access
Semantic Scholar
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients
A. Haghighi, T. Haack, M. Atiq, H. Mottaghi +16 more
2014Orphanet Journal of Rare Diseases91 citations Open access
Semantic Scholar
Recessively inherited LRBA mutations cause autoimmunity presenting as neonatal diabetes
Matthew B. Johnson, E. De Franco, H. Lango Allen, Aisha Al Senani +13 more
2017Diabetes63 citations Open access
Semantic Scholar
Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis
Jenna Hildebrandt, E. Yalcin, Hans-Georg Bresser, G. Cinel +12 more
2014Orphanet Journal of Rare Diseases61 citations Open access
Semantic Scholar
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
Yi Ng, C. Alston, D. Diodato, A. Morris +30 more
2016Journal of Medical Genetics50 citations Open access
Semantic Scholar
A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome.
A. Haghighi, Claire A. Scott, Daniel S. Poon, R. Yaghoobi +3 more
2013Journal of Investigative Dermatology50 citations Open access
Semantic Scholar
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.
J. Herkert, J. Verhagen, R. Yotti, A. Haghighi +28 more
2020American Heart Journal44 citations Open access
Semantic Scholar
Genetic Determinants of Sudden Unexpected Death in Pediatrics
H. Koh, A. Haghighi, Christine Keywan, S. Alexandrescu +9 more
2021Genetics in Medicine43 citations Open access
Semantic Scholar
Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency
Tarsha L. Ward, Warren Tai, S. Morton, F. Impens +28 more
2021Circulation Research42 citations Open access
Semantic Scholar
Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome
A. Habeb, S. Flanagan, Mohamed A. Zulali, M. Abdullah +13 more
2018Diabetologia40 citations Open access
Semantic Scholar
A Gene-Centric Strategy for Identifying Disease-Causing Rare Variants in Dilated Cardiomyopathy
C. Horvat, Renee Johnson, L. Lam, Jacob T. Munro +18 more
2018Genetics in Medicine33 citations Open access
Semantic Scholar
Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum
A. Haghighi, Z. Kavehmanesh, F. Salehzadeh, F. Santos-Simarro +10 more
2015Clinical Genetics30 citations Open access
Semantic Scholar
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery
A. Haghighi, J. Krier, Ágnes Tóth-Petróczy, C. Cassa +43 more
2018npj Genomic Medicine28 citations Open access
Semantic Scholar
Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome
A. Haghighi, Amit Tiwari, N. Piri, G. Nürnberg +5 more
2014PLoS ONE20 citations Open access
Semantic Scholar
Contribution of Non-Canonical Splice Variants to TTNtv Cardiomyopathy
Parth N. Patel, K. Ito, Jon A. L. Willcox, A. Haghighi +13 more
2021Circulation Genomic and Precision Medicine19 citations Open access
Semantic Scholar
Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II
A. Haghighi, H. Verdin, H. Haghighi-Kakhki, N. Piri +2 more
2012Molecular Vision19 citations
Semantic Scholar
Identification of an NPHP1 deletion causing adult form of nephronophthisis
A. Haghighi, S. Savaj, H. Haghighi-Kakhki, V. Benoit +2 more
2016Irish Journal of Medical Science16 citations
Semantic Scholar
Identification of a c.601C>G mutation in the CCM1 gene in a kindred with multiple skin, spinal and cerebral cavernous malformations.
A. Haghighi, D. Fathi, M. Shahbazi, Mohammadmehdi Motahari +1 more
2013Journal of Neurological Sciences13 citations
Semantic Scholar
Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease
Min-Young Jang, Parth N. Patel, Alexandre C. Pereira, Jon A. L. Willcox +22 more
2023Circulation Genomic and Precision Medicine11 citations Open access
Semantic Scholar
Molecular analysis of dilated and left ventricular noncompaction cardiomyopathies in Egyptian children
D. Mehaney, A. Haghighi, A. K. Embaby, R. Zeyada +6 more
2021Cardiology in the Young8 citations
Semantic Scholar
Consanguinity and the Risk of Hashimoto's Thyroiditis
R. Zaghlol, A. Haghighi, M. Alkhayyat, Othman F Theyab +4 more
2017Thyroid8 citations
Semantic Scholar
Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide.
A. Haghighi, Amira T. Masri, R. Kornreich, R. Desnick
2011Molecular Genetics and Metabolism8 citations
Semantic Scholar
Senior-Loken syndrome secondary to NPHP5/IQCB1 mutation in an Iranian family
A. Haghighi, M. Al-Hamed, Safaa Al-Hissi, A. Hynes +4 more
2011NDT plus8 citations Open access
Semantic Scholar
A Novel Missense Mutation in Oncostatin M Receptor Beta Causing Primary Localized Cutaneous Amyloidosis
M. Saeedi, A. Ebrahim-Habibi, A. Haghighi, Fariba Zarrabi +2 more
2014BioMed Research International7 citations Open access
Semantic Scholar
Geographic variation in the association between Hashimoto’s thyroiditis and Papillary thyroid carcinoma, a meta-analysis
Nabil W. G. Sweis, Ayman A. Zayed, Mira Al Jaberi, Lina Alqirem +11 more
2023Endocrine6 citations
Semantic Scholar
Genetic study of pediatric hypertrophic cardiomyopathy in Egypt
Rania K. Darwish, A. Haghighi, Z. Seliem, S. El-Saiedi +5 more
2020Cardiology in the Young6 citations
Semantic Scholar
Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age
C. Brownstein, E. Douard, R. Haynes, H. Koh +11 more
2022Advanced genetics5 citations Open access
Semantic Scholar
Genetic diagnosis of facioscapulohumeral muscular dystrophy type 1 using rare-variant linkage analysis and long-read genome sequencing
Kun Li, Daniel Quiat, Fei She, Yuan-Wei Liu +10 more
2023medRxiv4 citations Open access
Semantic Scholar
Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus.
Amira T. Masri, Jun Liao, R. Kornreich, A. Haghighi
2014European journal of paediatric neurology3 citations
Semantic Scholar
Neonatal Diabetes due to a Mutation in the Distal PTF1A Enhancer: A Case Report and Literature Review
H. Moravej, F. Mirrashidi, A. Haghighi, A. Amirhakimi +1 more
2021Iranian Journal of Pediatrics2 citations Open access
Semantic Scholar
Genetic determinants of Sudden Unexpected Death in Pediatrics (SUDP)
H. Koh, A. Haghighi, Christine Keywan, S. Alexandrescu +9 more
2021Molecular Genetics and Metabolism1 citations
Semantic Scholar
Erratum. Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes 2017;66:2316–2322
Matthew B. Johnson, E. De Franco, H. Lango Allen, Aisha Al Senani +12 more
2018Diabetes1 citations Open access
Semantic Scholar
Demographic and Viral-Genetic Analyses of COVID-19 Severity in Bahrain Identify Local Risk Factors and a Protective Effect of Polymerase Mutations
Evan M. Koch, Justin Du, Michelle Dressner, Hashmeya Erahim Alwasti +12 more
2022medRxiv0 citations Open access
Semantic Scholar
Association of parental consanguinity with papillary thyroid carcinoma: a case-control study.
Ayman A. Zayed, Justin Z. Amarin, Abdallah Al-Ani, Tareq L Altell +9 more
2021Journal of Clinical Endocrinology and Metabolism0 citations Open access
Semantic Scholar
SEQUENCE VARIANTS IN TITIN CAUSING SPLICING DEFECTS AND CARDIOMYOPATHY: INSIGHTS FOR GENE BASED DIAGNOSIS AND NORMAL PHYSIOLOGY
Parth N. Patel, K. Ito, Jon A. L. Willcox, J. Gorham +9 more
20200 citations Open access
Semantic Scholar
PEDIATRIC CARDIOMYOPATHY MUTATIONS IN A HIGHLY CONSANGUINEOUS POPULATION
A. Fahed, S. Candan, A. Haghighi, S. DePalma +8 more
20160 citations Open access
Semantic Scholar

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