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Bader Alhaddad

Observed names: Alhaddad Bader, Alhaddad, Bader, B. Alhaddad
Observed institutions: Paracelsus Medical University, King Faisal Specialist Hospital & Research Centre, King Saud Medical City, King Fahd Hospital of the University, German Center for Neurodegenerative Diseases, TUM Klinikum, Helmholtz Munich, LMU Klinikum, Düsseldorf University Hospital, University Medical Center Hamburg-Eppendorf, Munich Cluster for Systems Neurology, Universitätsmedizin Göttingen, Kreiskliniken Reutlingen, Salzburger Landeskliniken, Institut für Humangenetik, Research Institute of the McGill University Health Centre, Heinrich Heine University Düsseldorf, McGill University, Technical University of Munich, Imam Abdulrahman Bin Faisal University, Ludwig-Maximilians-Universität München
ORCID: 0000-0003-4542-5267
Observed ORCID: 0000-0003-4542-5267
OpenAlex ID: A5048614057
Monogenic variants in dystonia: an exome-wide sequencing study
2020 · Michael Zech, Robert Jech, et al. · The Lancet Neurology · 214
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia
2016 · Michael Zech, Sylvia Boesch, et al. · The American Journal of Human Genetics · 172
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CADmutations and uridine-responsive epileptic encephalopathy
2016 · Johannes Koch, Johannes A. Mayr, et al. · Brain · 128
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De novo variants in neurodevelopmental disorders—experiences from a tertiary care center
2021 · Theresa Brunet, Robert Jech, et al. · Clinical Genetics · 119
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Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy
2016 · Laura S. Kremer, Felix Distelmaier, et al. · The American Journal of Human Genetics · 108
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De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment
2015 · Maja Hempel, Kirsten Cremer, et al. · The American Journal of Human Genetics · 99
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Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases
2017 · Roeltje R. Maas, Katarzyna Iwanicka‐Pronicka, et al. · Annals of Neurology · 76
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2
2016 · Hannah Kennedy, Tobias B. Haack, et al. · The American Journal of Human Genetics · 73
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Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy
2018 · Arcangela Iuso, Marit Wiersma, et al. · The American Journal of Human Genetics · 72
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SCYL1 variants cause a syndrome with lowγ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)
2018 · Dominic Lenz, Patricia McClean, et al. · Genetics in Medicine · 69
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Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy
2018 · Katharina Danhauser, Bader Alhaddad, et al. · The American Journal of Human Genetics · 63
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New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics
2020 · Anaïs Begemann, Heinrich Sticht, et al. · Genetics in Medicine · 60
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KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum
2019 · Joohyun Park, Mahmoud Koko, et al. · Annals of Clinical and Translational Neurology · 58
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Molecular and clinical spectra of FBXL4 deficiency
2017 · Ayman W. El-Hattab, Hongzheng Dai, et al. · Human Mutation · 58
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1
2020 · Dominic Lenz, Desirée E.C. Smith, et al. · Genetics in Medicine · 48
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Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb
2017 · Muhammad Umair, Khadim Shah, et al. · European Journal of Human Genetics · 44
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies
2017 · René G. Feichtinger, Michaela Brunner-Krainz, et al. · Oxidative Medicine and Cellular Longevity · 44
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Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency
2018 · Sanna Puusepp, Reka Kovacs-Nagy, et al. · European Journal of Human Genetics · 41
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SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family
2017 · Benjamin Roeben, Rebecca Schüle, et al. · Journal of Medical Genetics · 40
Exome Sequencing in Children
2019 · Elisa A. Mahler, Jessika Johannsen, et al. · Deutsches Ärzteblatt international · 39
Bi-allelic truncating mutations in VWA1 cause neuromyopathy
2020 · Marcus Deschauer, Holger Hengel, et al. · Brain · 38
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Expanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophy
2020 · Stefanie Perrier, Laurence Gauquelin, et al. · Neurology Genetics · 37
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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
2021 · Elodie M. Richard, Somayeh Bakhtiari, et al. · The American Journal of Human Genetics · 36
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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
2022 · Maimuna S. Paul, Anna R. Duncan, et al. · The American Journal of Human Genetics · 33
Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3
2017 · Muhammad Umair, Bader Alhaddad, et al. · Pediatric Research · 33
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Works count: 89
Citation count: 2,429
H-index: 29
I10-index: 55
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