Natalie C Lippa
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Explore the profile of Natalie C Lippa including associated specialties, affiliations and a list of published articles.
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8
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78
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Recent Articles
1.
Dharmadhikari A, Abad M, Khan S, Maroofian R, Sands T, Ullah F, et al.
Nat Commun
. 2025 Feb;
16(1):1703.
PMID: 39962046
SPOUT1/CENP-32 encodes a putative SPOUT RNA methyltransferase previously identified as a mitotic chromosome associated protein. SPOUT1/CENP-32 depletion leads to centrosome detachment from the spindle poles and chromosome misalignment. Aided by...
2.
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...
3.
Motelow J, Lippa N, Hostyk J, Feldman E, Nelligan M, Ren Z, et al.
JAMA Netw Open
. 2022 Oct;
5(10):e2239122.
PMID: 36306130
Importance: Diagnostic genetic testing can lead to changes in management in the pediatric intensive care unit. Genetic risk in children with critical illness but nondiagnostic exome sequencing (ES) has not...
4.
Lippa N, Barua S, Aggarwal V, Pereira E, Bain J
BMC Neurol
. 2021 Sep;
21(1):358.
PMID: 34530748
Background: Pathogenic variants in KDM5C are a cause of X-linked intellectual disability in males. Other features in males include short stature, dysmorphic features, seizures and spasticity. In some instances, female...
5.
Kushary S, Revah-Politi A, Barua S, Ganapathi M, Accogli A, Aggarwal V, et al.
Am J Med Genet A
. 2021 Jul;
185(12):3740-3753.
PMID: 34331327
Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is caused by de novo loss-of-function variants in the SON gene (MIM #617140). This multisystemic disorder is characterized by intellectual disability, seizures, abnormal brain imaging, variable dysmorphic...
6.
Verberne E, Goh S, England J, van Ginkel M, Rafael-Croes L, Maas S, et al.
Genet Med
. 2020 Oct;
23(2):374-383.
PMID: 33077894
Purpose: JARID2, located on chromosome 6p22.3, is a regulator of histone methyltransferase complexes that is expressed in human neurons. So far, 13 individuals sharing clinical features including intellectual disability (ID)...
7.
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...
8.
Lippa N, Sanderson S
Hum Hered
. 2013 Oct;
75(2-4):186-203.
PMID: 24081234
Background/aims: Increasing public awareness of obesity genetics could have beneficial or harmful effects on overweight individuals. This study examined the impact of genetic information on weight-related cognitions as well as...
9.
Lippa N, Sanderson S
Obesity (Silver Spring)
. 2012 Jun;
20(12):2367-76.
PMID: 22673191
Advances in genomic technologies are rapidly leading to new understandings of the roles that genetic variations play in obesity. Increasing public dissemination of information regarding the role of genetics in...