Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

M. Pendziwiat · SciRah

Researcher profile · Semantic Scholar

M. Pendziwiat

Share profile

M. Pendziwiat — researcher profile on SciRah

h-index: 32
Works: 76
Citations: 3,538

Most-cited papers

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.
S. Appenzeller, R. Balling, N. Barišić, S. Baulac +117 more
2017American Journal of Human Genetics326 citations Open access
Semantic Scholar
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
Y. Feng, D. Howrigan, L. Abbott, K. Tashman +236 more
2019bioRxiv268 citations Open access
Semantic Scholar
De novo variants in neurodevelopmental disorders with epilepsy
H. Heyne, T. Singh, H. Stamberger, R. Jamra +48 more
2018Nature Genetics265 citations Open access
Semantic Scholar
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
R. Stevelink, C. Campbell, Si-Wei Chen, B. Abou-Khalil +315 more
2023Nature Genetics198 citations Open access
Semantic Scholar
CHD2 variants are a risk factor for photosensitivity in epilepsy
E. Galizia, Candace T. Myers, C. Leu, C. de Kovel +43 more
2015Brain : a journal of neurology136 citations Open access
Semantic Scholar
Defining the phenotypic spectrum of SLC6A1 mutations
K. Johannesen, E. Gardella, T. Linnankivi, C. Courage +48 more
2018Epilepsia134 citations Open access
Semantic Scholar
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
K. Johannesen, Yuan-Yuan Liu, M. Koko, C. E. Gjerulfsen +124 more
2021medRxiv133 citations Open access
Semantic Scholar
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
M. Corbett, Thessa Kroes, L. Veneziano, M. Bennett +65 more
2019Nature Communications129 citations Open access
Semantic Scholar
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
I. Helbig, T. López-Hernández, O. Shor, P. Galer +75 more
2019American Journal of Human Genetics112 citations Open access
Semantic Scholar
Novel septin 9 repeat motifs altered in neuralgic amyotrophy bind and bundle microtubules
Xiao-Bo Bai, J. R. Bowen, Tara Knox, K. Zhou +4 more
2013Journal of Cell Biology112 citations Open access
Semantic Scholar
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes
C. de Kovel, S. Syrbe, E. Brilstra, N. Verbeek +31 more
2017JAMA Neurology99 citations Open access
Semantic Scholar
Genome-wide association study in essential tremor identifies three new loci
Stefanie H. Müller, S. Girard, Franziska Hopfner, N. Merner +45 more
2016Brain : a journal of neurology89 citations Open access
Semantic Scholar
Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.
F. Vögtle, B. Brändl, A. Larson, M. Pendziwiat +24 more
2018American Journal of Human Genetics88 citations Open access
Semantic Scholar
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients
C. de Kovel, E. Brilstra, M. van Kempen, R. van 't Slot +50 more
2016Molecular Genetics & Genomic Medicine88 citations Open access
Semantic Scholar
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies
R. Møller, T. Wuttke, I. Helbig, C. Marini +38 more
2017Neurology82 citations Open access
Semantic Scholar
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
A. Knaus, J. Pantel, M. Pendziwiat, Nurulhuda Hajjir +32 more
2017Genome Medicine81 citations Open access
Semantic Scholar
Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy
A. O'Donnell-Luria, L. Pais, V. Faundes, J. Wood +81 more
2019bioRxiv74 citations Open access
Semantic Scholar
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
J. N. Dines, Katie Golden-Grant, Amy Lacroix, Alison M. Muir +28 more
2018Genetics in Medicine71 citations Open access
Semantic Scholar
DNM1 encephalopathy
S. von Spiczak, K. Helbig, D. Shinde, Robert Huether +33 more
2017Neurology63 citations Open access
Semantic Scholar
Lessons learned from 40 novel PIGA subjects and a review of the literature.
A. Bayat, A. Knaus, M. Pendziwiat, A. Afenjar +50 more
2020Epilepsia54 citations Open access
Semantic Scholar
Broad Phenotypic Heterogeneity due to a Novel SCN1A Mutation in a Family With Genetic Epilepsy With Febrile Seizures Plus
H. Goldberg-Stern, S. Aharoni, Z. Afawi, Odeya Bennett +7 more
2014Journal of Child Neurology54 citations
Semantic Scholar
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.
Joshua E. Motelow, G. Povysil, R. Dhindsa, Kate E. Stanley +251 more
2021American Journal of Human Genetics53 citations Open access
Semantic Scholar
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Si-Wei Chen, B. Abou-Khalil, Z. Afawi, Q. Z. Ali +332 more
2024Nature Neuroscience50 citations Open access
Semantic Scholar
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
A. Siekierska, H. Stamberger, T. Deconinck, Stephanie N. Oprescu +34 more
2019Nature Communications50 citations Open access
Semantic Scholar
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures
Sha Tang, L. Addis, Anna B. Smith, S. Topp +44 more
2020Epilepsia46 citations Open access
Semantic Scholar
Differential aggregation properties of alpha-synuclein isoforms.
May Bungeroth, S. Appenzeller, A. Regulin, W. Völker +4 more
2014Neurobiology of Aging46 citations
Semantic Scholar
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Si-Wei Chen, B. Abou-Khalil, Z. Afawi, Q. Z. Ali +332 more
2023medRxiv44 citations Open access
Semantic Scholar
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome
A. Knaus, Tomonari Awaya, I. Helbig, Z. Afawi +15 more
2016Human Mutation44 citations Open access
Semantic Scholar
Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene.
S. Appenzeller, A. Schirmacher, H. Halfter, Sebastian Bäumer +10 more
2010American Journal of Human Genetics42 citations Open access
Semantic Scholar
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy
G. Rudolf, G. Lesca, M. Mehrjouy, A. Labalme +37 more
2016European Journal of Human Genetics41 citations Open access
Semantic Scholar
Association of Essential Tremor With Novel Risk Loci
C. Liao, Charles-Etienne Castonguay, K. Heilbron, Veikko Vuokila +44 more
2022JAMA Neurology38 citations Open access
Semantic Scholar
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies
P. Galer, S. Ganesan, D. Lewis-Smith, Sarah E. McKeown +14 more
2020American Journal of Human Genetics36 citations Open access
Semantic Scholar
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Zheng Yie Yap, S. Efthymiou, Simone Seiffert, Karen Vargas Parra +36 more
2021American Journal of Human Genetics32 citations Open access
Semantic Scholar
Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series
Simone Seiffert, M. Pendziwiat, T. Bierhals, H. Goel +9 more
2022EBioMedicine27 citations Open access
Semantic Scholar
Seizures as presenting and prominent symptom in chorea‐acanthocytosis with c.2343del VPS13A gene mutation
F. Benninger, Z. Afawi, A. Korczyn, Karen L. Oliver +6 more
2016Epilepsia27 citations Open access
Semantic Scholar
Whole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndrome
I. Helbig, G. Barcia, M. Pendziwiat, S. Ganesan +14 more
2020Annals of Clinical and Translational Neurology26 citations Open access
Semantic Scholar
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics
A. Bayat, A. Knaus, A. Juul, D. Dukic +23 more
2019Genetics in Medicine25 citations Open access
Semantic Scholar
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature
D. Johnstone, T. Nguyen, J. Zambonin, K. Kernohan +20 more
2020Journal of Inherited Metabolic Disease24 citations Open access
Semantic Scholar
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties
M. Cioclu, Ilaria Mosca, P. Ambrosino, Deborah Puzo +21 more
2023Annals of Neurology21 citations Open access
Semantic Scholar
The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures
K. Klein, M. Pendziwiat, Anda Eilam, R. Gilad +6 more
2017Journal of Neurology21 citations
Semantic Scholar
Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci
Christina Canavati, K. Klein, Z. Afawi, M. Pendziwiat +6 more
2019Epilepsia19 citations
Semantic Scholar
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants
N. Schwarz, Simone Seiffert, M. Pendziwiat, Annika V. Rademacher +44 more
2022Neurology18 citations Open access
Semantic Scholar
Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy
Annika V. Rademacher, N. Schwarz, Simone Seiffert, M. Pendziwiat +5 more
2020Neuropediatrics18 citations
Semantic Scholar
Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study
Katharina Neubauer, D. Boeckelmann, U. Koehler, J. Kracht +3 more
2018Cytoskeleton17 citations Open access
Semantic Scholar
Common Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System Atrophy
Franziska Hopfner, Anja Tietz, Viktoria C. Ruf, O. Ross +68 more
2022Movement Disorders14 citations Open access
Semantic Scholar
Agammaglobulinemia with normal B-cell numbers in a patient lacking Bob1.
Patrick Küry, J. Staniek, Oliver Wegehaupt, I. Janowska +15 more
2021Journal of Allergy and Clinical Immunology12 citations Open access
Semantic Scholar
Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia
K. Klein, M. Pendziwiat, Rony Cohen, S. Appenzeller +9 more
2015Journal of Neurology12 citations Open access
Semantic Scholar
The impact of rare variants in FUS in essential tremor
Franziska Hopfner, G. Stevanin, Stefanie H. Müller, É. Mundwiller +11 more
2015Movement Disorders11 citations
Semantic Scholar
PIGN encephalopathy: Characterizing the epileptology
A. Bayat, Guillem Valles-Ibáñez, M. Pendziwiat, A. Knaus +65 more
2022Epilepsia10 citations Open access
Semantic Scholar
Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy
J. Döring, Afshin Saffari, T. Bast, K. Brockmann +14 more
2022Neurology: Genetics8 citations Open access
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

I. Helbig×37
Invite
I. Helbig — researcher profile on SciRah
H. Muhle×21
Invite
H. Muhle — researcher profile on SciRah
Z. Afawi×16
Invite
Z. Afawi — researcher profile on SciRah
Y. Weber×15
Invite
Y. Weber — researcher profile on SciRah

×15

Invite

R. Møller — researcher profile on SciRah

Invite

J. Lemke — researcher profile on SciRah

S. von Spiczak×13

Invite

S. von Spiczak — researcher profile on SciRah

Invite

K. Helbig — researcher profile on SciRah

R. Guerrini×12

Invite

R. Guerrini — researcher profile on SciRah

Invite

K. Klein — researcher profile on SciRah

Invite

P. Striano — researcher profile on SciRah

G. Kuhlenbäumer×11

Invite

G. Kuhlenbäumer — researcher profile on SciRah