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L. Robak · SciRah

Researcher profile · Semantic Scholar

L. Robak

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L. Robak — researcher profile on SciRah

h-index: 19
Works: 38
Citations: 2,748

Most-cited papers

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management
Linyan Meng, M. Pammi, Anirudh Saronwala, P. Magoulas +50 more
2017JAMA pediatrics417 citations Open access
Semantic Scholar
Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease
L. Robak, I. Jansen, J. V. van Rooij, A. Uitterlinden +4 more
2017Brain : a journal of neurology412 citations Open access
Semantic Scholar
Genetics and Pathogenesis of Parkinson’s Syndrome
Hui Ye, L. Robak, Meigen Yu, M. Cykowski +1 more
2022Annual Review of Pathology374 citations Open access
Semantic Scholar
Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome
C. Storm, D. Kia, Mona Almramhi, S. Bandres-Ciga +171 more
2021Nature Communications192 citations Open access
Semantic Scholar
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
S. Küry, Geeske M. van Woerden, T. Besnard, M. Onori +102 more
2017American Journal of Human Genetics181 citations Open access
Semantic Scholar
Synaptic Function for the Nogo-66 Receptor NgR1: Regulation of Dendritic Spine Morphology and Activity-Dependent Synaptic Strength
Hakjoo Lee, Stephen J. Raiker, K. Venkatesh, R. Geary +5 more
2008Journal of Neuroscience176 citations Open access
Semantic Scholar
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases
C. Blauwendraat, F. Faghri, L. Pihlstrøm, Joshua T. Geiger +37 more
2017Neurobiology of Aging142 citations Open access
Semantic Scholar
Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability
R. Reynolds, J. Botía, M. Nalls, A. Noyce +163 more
2019npj Parkinson's Disease93 citations Open access
Semantic Scholar
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.
Kezhi Yan, J. Rousseau, R. Littlejohn, C. Kiss +30 more
2017American Journal of Human Genetics86 citations Open access
Semantic Scholar
Mechanisms of CNS myelin inhibition: Evidence for distinct and neuronal cell type specific receptor systems
R. Giger, K. Venkatesh, Onanong Chivatakarn, Stephen J. Raiker +4 more
2008Restorative Neurology and Neuroscience86 citations Open access
Semantic Scholar
Identification of sixteen novel candidate genes for late onset Parkinson’s disease
A. Gialluisi, M. G. Reccia, N. Modugno, T. Nutile +173 more
2021Molecular Neurodegeneration80 citations Open access
Semantic Scholar
Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.
Yu-Hsin Chao, L. Robak, F. Xia, M. Koenig +5 more
2016Human Molecular Genetics72 citations Open access
Semantic Scholar
Whole-Exome Sequencing in Familial Parkinson Disease
J. L. Farlow, L. Robak, K. Hetrick, K. Bowling +22 more
2016JAMA Neurology71 citations Open access
Semantic Scholar
De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation
D. Mao, Chloe M. Reuter, Maura R Z Ruzhnikov, A. Beck +27 more
2019bioRxiv57 citations Open access
Semantic Scholar
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
B. Cogné, Sophie Ehresmann, Éliane Beauregard-Lacroix, J. Rousseau +111 more
2019American Journal of Human Genetics55 citations Open access
Semantic Scholar
Molecular Basis of the interactions of the Nogo-66 Receptor and its homologue NgR2 with Myelin-Associated Glycoprotein: Development of NgROMNI-Fc a Novel Antagonist of CNS Myelin Inhibition
L. Robak, K. Venkatesh, Hakjoo Lee, Stephen J. Raiker +6 more
2009Journal of Neuroscience55 citations Open access
Semantic Scholar
De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures
Nurit Assia Batzir, Pranjali Bhagwat, Tanya N. Eble, Peng-Fei Liu +7 more
2019Cold Spring Harbor molecular case studies37 citations Open access
Semantic Scholar
Cerebrospinal fluid contains biologically active bone morphogenetic protein-7.
B. Dattatreyamurty, E. Roux, C. Horbinski, Paul L. Kaplan +5 more
2001Experimental Neurology36 citations
Semantic Scholar
The expanding clinical phenotype of germline ABL1‐associated congenital heart defects and skeletal malformations syndrome
Chun-An Chen, Emeline Crutcher, H. Gill, Tanya N. Nelson +12 more
2020Human Mutation19 citations Open access
Semantic Scholar
Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson’s disease risk
E. Chew, Zhe-Hao Liu, Zheng Li, S. Chung +46 more
2024Nature Aging17 citations Open access
Semantic Scholar
Genome Sequencing in the Parkinson Disease Clinic
Emily J. Hill, L. Robak, Rami Al-ouran, Jennifer M. Deger +19 more
2021medRxiv16 citations Open access
Semantic Scholar
Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson’s disease
T. Spargo, C. Sands, I. R. Juan, J. Mitchell +23 more
2025Cell Reports15 citations Open access
Semantic Scholar
LRP10 in α-synucleinopathies.
D. Kia, M. Sabir, Sarah Ahmed, J. Trinh +141 more
2018Lancet Neurology15 citations Open access
Semantic Scholar
The expanding neurological phenotype of DNM1L-related disorders.
M. Wangler, Nurit Assia Batzir, L. Robak, M. Koenig +3 more
2018Brain : a journal of neurology14 citations Open access
Semantic Scholar
ANKLE2 ‐related microcephaly: A variable microcephaly syndrome resembling Zika infection
A. Thomas, Nichole Link, L. Robak, G. Demmler-Harrison +24 more
2022Annals of Clinical and Translational Neurology13 citations Open access
Semantic Scholar
A Novel De Novo Intronic Variant in ITPR1 Causes Gillespie Syndrome
L. Keehan, Ming-Ming Jiang, Xiao-Hui Li, R. Marom +16 more
2021American Journal of Medical Genetics. Part A10 citations Open access
Semantic Scholar
Exome sequencing in Asian populations identifies rare deficient SMPD1 alleles that increase risk of Parkinson's disease
E. Chew, Z. Liu, Z. Li, S. Chung +44 more
2023medRxiv5 citations Open access
Semantic Scholar
Haploinsufficiency of ITSN1 is associated with Parkinson's disease
T. Spargo, C. Sands, I. R. Juan, J. Mitchell +20 more
2024medRxiv3 citations Open access
Semantic Scholar
Integrated Sequencing & Array Comparative Genomic Hybridization in Familial Parkinson’s Disease
L. Robak, R. Du, Bo Yuan, Shen Gu +20 more
20192 citations Open access
Semantic Scholar
Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease (S1.001)
L. Robak, Iris E. Jansen, J. V. van Rooij, A. Uitterlinden +3 more
2017Neurology1 citations
Semantic Scholar
Dystonia-Spasticity in a Patient with a Novel SLC25A12 Mutation (P2.138)
M. Parnes, L. Robak, J. Shulman, Amber J. Stocco +1 more
2015Neurology1 citations
Semantic Scholar
Improved Stem Cell Transplant Survival in Pediatric Inborn Errors of Metabolism (IEM) after 2010: A Single Center Experience of the Impact of Cord Blood Utilization and Conditioning Approach
Laurie Davis, J. Klinger, Erin A Morales, Josaura Fernandez +21 more
2026Transplantation and Cellular Therapy0 citations
Semantic Scholar
Diagnostic yield of genome sequencing for children with intellectual disability and developmental delay
Robert Rigobello, Morgan N. Driver, L. Robak, Daryl A. Scott +7 more
2026Frontiers in Neurology0 citations Open access
Semantic Scholar
P439: A supernumerary ring 9 chromosome detected in a case with ring X variant turner syndrome
Matthew Hoi Kin Chau, Elizabeth Mizerik, L. Robak, Peng-Fei Liu +2 more
2023Genetics in Medicine Open0 citations Open access
Semantic Scholar
Table of Contents, Volume 185A, Number 8, August 2021
B. P. Favilla, V. Meloni, A. Perez, Danilo Moretti +46 more
2021American Journal of Medical Genetics. Part A0 citations
Semantic Scholar
A genetic and transcriptomic assessment of the KTN1 gene in Parkinson’s disease risk
A. Moore, P. W. Crea, M. Makarious, S. Bandres-Ciga +140 more
2021medRxiv0 citations Open access
Semantic Scholar
Integrated Whole Exome Sequencing and Chromosomal Microarray in Familial Parkinson’s Disease (N3.001)
L. Robak, R. Du, Bo Yuan, Shen Gu +7 more
2018Neurology0 citations
Semantic Scholar
NeuroChip , an updated version of the NeuroX genotyping platform to 1 rapidly screen for variants associated with neurological diseases 2
C. Blauwendraat, F. Faghri, L. Pihlstrøm, Joshua T. Geiger +38 more
20170 citations
Semantic Scholar

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