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Maureen S. Mulhern · SciRah

Researcher profile · Semantic Scholar

Maureen S. Mulhern

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Maureen S. Mulhern — researcher profile on SciRah

h-index: 11
Works: 21
Citations: 2,483

Most-cited papers

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
F. Satterstrom, Jack A. Kosmicki, Jiebiao Wang, M. Breen +186 more
2019Cell2,103 citations Open access
Semantic Scholar
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
Candace T. Myers, N. Stong, Emily Mountier, K. Helbig +25 more
2017American Journal of Human Genetics61 citations Open access
Semantic Scholar
Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk
F. Satterstrom, Jack A. Kosmicki, Jiebiao Wang, M. Breen +153 more
2018bioRxiv60 citations Open access
Semantic Scholar
The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield
S. Berkovic, D. Goldstein, E. Heinzen, Brandon Laughlin +58 more
2019Epilepsia59 citations Open access
Semantic Scholar
NBEA: developmental disease gene with early generalized epilepsy phenotypes
Maureen S. Mulhern, C. Stumpel, N. Stong, Han G. Brunner +47 more
2018Annals of Neurology53 citations Open access
Semantic Scholar
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
B. Mahjani, S. de Rubeis, Christina Gustavsson Mahjani, Maureen S. Mulhern +12 more
2021Molecular Autism41 citations Open access
Semantic Scholar
CSNK2B: a broad spectrum of neurodevelopmental disability and epilepsy severity
M. Ernst, E. Baugh, Amanda L Thomas, Louise Bier +53 more
2021Epilepsia30 citations Open access
Semantic Scholar
Genome-wide association study identiﬁes new locus associated with OCD
D. L. Davis, A. Rosario, N. Strom, Dong-Mei Yu +188 more
21 citations
Semantic Scholar
Clinical utility of exome sequencing in a pediatric epilepsy cohort
Jordana L Graifman, N. Lippa, Maureen S. Mulhern, A. Bergner +1 more
2023Epilepsia18 citations Open access
Semantic Scholar
Patients’ opinions on genetic counseling on the increased risk of Parkinson disease among Gaucher disease carriers
Maureen S. Mulhern, Louise Bier, R. Alcalay, M. Balwani
2017Journal of Genetic Counseling18 citations Open access
Semantic Scholar
Visual Evoked Potential Abnormalities in Phelan-McDermid Syndrome
P. Siper, Mikaela A. Rowe, S. Guillory, Audrey A. Rouhandeh +14 more
2021Journal of the American Academy of Child and Adolescent Psychiatry13 citations Open access
Semantic Scholar
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish
V. Patterson, Farid Ullah, L. Bryant, Dong Li +48 more
2023Science Advances8 citations Open access
Semantic Scholar
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies
Jil D. Stegmann, Jeshurun C. Kalanithy, G. Dworschak, Nina Ishorst +67 more
2024npj Genomic Medicine5 citations Open access
Semantic Scholar
3′ UTR Deletion of FBXO28 in a Patient with Brain Abnormalities and Developmental Delay
Xin Bi, Maureen S. Mulhern, Erica S. Spiegel, R. Wapner +3 more
2023Genes1 citations Open access
Semantic Scholar
Prevalence and Phenotypic Impact of Rare Likely Pathogenic Variants in Autism Spectrum Disorder
B. Mahjani, S. de Rubeis, C. G. Mahjani, Maureen S. Mulhern +12 more
20201 citations Open access
Semantic Scholar
CNPY3 variants associated with a recessive developmental and epileptic encephalopathy affect inflammasome and TLR function.
Vera Garloff, M. Grimmel, R. Maroofian, S. Efthymiou +93 more
2026EBioMedicine0 citations Open access
Semantic Scholar
Gaucher Disease Survey
Maureen S. Mulhern, Louise Bier, R. Alcalay, M. Balwani
20200 citations
Semantic Scholar
Diagnostic Whole Exome Sequencing in an Autism Research Population
Maureen S. Mulhern
20190 citations
Semantic Scholar
5.45 RECURRENT AND LARGE COPY NUMBER VARIATION IN OCD RISK: RESULTS FROM THE EGOS STUDY
D. Grice, J. Buxbaum, B. Devlin, S. de Rubeis +6 more
2019Journal of the American Academy of Child and Adolescent Psychiatry0 citations
Semantic Scholar
CAUSES Study; EuroEPINOMICS-RES-MAE Working Grp;
Maureen S. Mulhern, C. Stumpel, N. Stong, H. G. Brunner +47 more
20180 citations
Semantic Scholar
CAUSES Study; EuroEPINOMICS-RES-MAE Working Grp;
Maureen S. Mulhern, C. Stumpel, N. Stong, H. G. Brunner +47 more
20180 citations
Semantic Scholar

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