Maureen S Mulhern
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Explore the profile of Maureen S Mulhern including associated specialties, affiliations and a list of published articles.
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8
Citations
1086
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Recent Articles
1.
Stegmann J, Kalanithy J, Dworschak G, Ishorst N, Mingardo E, Lopes F, et al.
NPJ Genom Med
. 2024 Mar;
9(1):18.
PMID: 38429302
CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum...
2.
Bi X, Mulhern M, Spiegel E, Wapner R, Levy B, Bain J, et al.
Genes (Basel)
. 2023 Sep;
14(9).
PMID: 37761828
Constitutional deletions of chromosome 1q42 region are rare. The phenotype spectrum associated with this copy number change is variable, including developmental delay, intellectual disability, seizures, and dysmorphology. This study describes...
3.
Graifman J, Lippa N, Mulhern M, Bergner A, Sands T
Epilepsia
. 2023 Feb;
64(4):986-997.
PMID: 36740579
Objective: Exome sequencing (ES) has played an important role in the identification of causative variants for individuals with epilepsy and has proven to be a valuable diagnostic tool. Less is...
4.
Siper P, Rowe M, Guillory S, Rouhandeh A, George-Jones J, Tavassoli T, et al.
J Am Acad Child Adolesc Psychiatry
. 2021 Jul;
61(4):565-574.e1.
PMID: 34303785
Objective: The current study used visual evoked potentials (VEPs) to examine excitatory and inhibitory postsynaptic activity in children with Phelan-McDermid syndrome (PMS) and the association with genetic factors. PMS is...
5.
Ernst M, Baugh E, Thomas A, Bier L, Lippa N, Stong N, et al.
Epilepsia
. 2021 May;
62(7):e103-e109.
PMID: 34041744
CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been limited by the young age and short follow-up for...
6.
Satterstrom F, Kosmicki J, Wang J, Breen M, De Rubeis S, An J, et al.
Cell
. 2020 Jan;
180(3):568-584.e23.
PMID: 31981491
We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n = 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to integrate de...
7.
Mulhern M, Stumpel C, Stong N, Brunner H, Bier L, Lippa N, et al.
Ann Neurol
. 2018 Oct;
84(5):788-795.
PMID: 30269351
NBEA is a candidate gene for autism, and de novo variants have been reported in neurodevelopmental disease (NDD) cohorts. However, NBEA has not been rigorously evaluated as a disease gene,...
8.
Myers C, Stong N, Mountier E, Helbig K, Freytag S, Sullivan J, et al.
Am J Hum Genet
. 2017 Sep;
101(4):516-524.
PMID: 28942967
Exome sequencing has readily enabled the discovery of the genetic mutations responsible for a wide range of diseases. This success has been particularly remarkable in the severe epilepsies and other...