Anne M Slavotinek
Overview
Explore the profile of Anne M Slavotinek including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
89
Citations
1210
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
21.
Mendelsohn B, Beleford D, Abu-El-Haija A, Alsaleh N, Rahbeeni Z, Martin P, et al.
Am J Med Genet A
. 2019 Dec;
182(3):513-520.
PMID: 31880405
We describe an 11-year old boy with severe global developmental delays, failure to thrive and growth retardation, refractory seizures with recurrent status epilepticus, hypogammaglobulinemia, hypergonadotropic hypogonadism, and duodenal strictures. He...
22.
Kanca O, Andrews J, Lee P, Patel C, Braddock S, Slavotinek A, et al.
Am J Hum Genet
. 2019 Sep;
105(3):672-674.
PMID: 31491411
No abstract available.
23.
Darras N, Ha T, Rego S, Martin P, Barroso E, Slavotinek A, et al.
Am J Med Genet A
. 2019 Aug;
179(11):2190-2195.
PMID: 31465153
Developmental and epileptic encephalopathies are genetic disorders in which both the developmental disability and the frequent epileptic activity are the effect of a specific gene variant. While heterozygous variants in...
24.
Kanca O, Andrews J, Lee P, Patel C, Braddock S, Slavotinek A, et al.
Am J Hum Genet
. 2019 Jul;
105(2):413-424.
PMID: 31327508
WD40 repeat-containing proteins form a large family of proteins present in all eukaryotes. Here, we identified five pediatric probands with de novo variants in WDR37, which encodes a member of...
25.
Ko J, Pomerantz J, Perry H, Shieh J, Slavotinek A, Oberoi S, et al.
Cleft Palate Craniofac J
. 2019 Jun;
57(1):132-136.
PMID: 31248274
Floating-Harbor syndrome (FHS) is a rare genetic disorder caused by heterozygous mutations in the Snf2-related CREBBP activator protein () gene. The syndrome is characterized by proportional short stature, delayed bone...
26.
Horowitz C, Orlando L, Slavotinek A, Peterson J, Angelo F, Biesecker B, et al.
Am J Hum Genet
. 2019 May;
104(6):1088-1096.
PMID: 31104772
Conceptual frameworks are useful in research because they can highlight priority research domains, inform decisions about interventions, identify outcomes and factors to measure, and display how factors might relate to...
27.
Slavotinek A, Muenke M
Am J Med Genet A
. 2019 Mar;
179(8):1413-1414.
PMID: 30912611
No abstract available.
28.
Johnston J, Williamson K, Chou C, Sapp J, Ansari M, Chapman H, et al.
J Med Genet
. 2019 Mar;
56(7):444-452.
PMID: 30842225
Background: A single variant in (c.471+2T>A), the gene encoding N-acetyltransferase 10, has been associated with Lenz microphthalmia syndrome. In this study, we aimed to identify causative variants in families with...
29.
Krall M, Htun S, Schnur R, Brooks A, Baker L, de Alba Campomanes A, et al.
Eur J Hum Genet
. 2019 Jan;
27(4):582-593.
PMID: 30622326
The Integrator complex subunit 1 (INTS1) is a component of the integrator complex that comprises 14 subunits and associates with RPB1 to catalyze endonucleolytic cleavage of nascent snRNAs and assist...
30.
Abu-El-Haija A, Fineman J, Connolly A, Murali P, Judge L, Slavotinek A
Am J Med Genet A
. 2018 Nov;
176(12):2877-2881.
PMID: 30380203
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) describes a group of developmental disorders affecting the lungs with its pulmonary vasculature. Mutations in the FOXF1 gene have been reported...