Anne M Slavotinek
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Explore the profile of Anne M Slavotinek including associated specialties, affiliations and a list of published articles.
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Recent Articles
11.
Rossignol F, Duarte Moreno M, Benoist J, Boehm M, Bourrat E, Cano A, et al.
Genet Med
. 2021 May;
23(9):1604-1615.
PMID: 34040193
Purpose: Prolidase deficiency is a rare inborn error of metabolism causing ulcers and other skin disorders, splenomegaly, developmental delay, and recurrent infections. Most of the literature is constituted of isolated...
12.
Mardy A, Hodoglugil U, Yip T, Slavotinek A
Clin Genet
. 2021 Mar;
100(1):93-99.
PMID: 33748949
Bardet-Biedl syndrome (BBS) is a rare ciliopathy characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity and renal anomalies with autosomal recessive inheritance. We describe a 6-year-old male with early onset...
13.
Biesecker L, Adam M, Alkuraya F, Amemiya A, Bamshad M, Beck A, et al.
Am J Hum Genet
. 2021 Jan;
108(1):8-15.
PMID: 33417889
The delineation of disease entities is complex, yet recent advances in the molecular characterization of diseases provide opportunities to designate diseases in a biologically valid manner. Here, we have formalized...
14.
Genetic Testing Leading to Early Identification of Childhood Ocular Manifestations of Usher Syndrome
Brodie K, Moore A, Slavotinek A, Meyer A, Nadaraja G, Conrad D, et al.
Laryngoscope
. 2020 Oct;
131(6):E2053-E2059.
PMID: 33111992
Objectives: Hearing-loss gene panel testing (HLGPT) is increasingly accessible as a first-line test in determining the etiology of sensorineural hearing loss (SNHL) in children. A major advantage of HLGPT is...
15.
Sparks T, Lianoglou B, Adami R, Pluym I, Holliman K, Duffy J, et al.
N Engl J Med
. 2020 Oct;
383(18):1746-1756.
PMID: 33027564
Background: The cause of most fetal anomalies is not determined prenatally. Exome sequencing has transformed genetic diagnosis after birth, but its usefulness for prenatal diagnosis is still emerging. Nonimmune hydrops...
16.
Barrus K, Rego S, Yip T, Martin P, Glen O, Van Ziffle J, et al.
Am J Med Genet A
. 2020 Sep;
182(12):2959-2963.
PMID: 32902921
NFIB (Nuclear Factor I B) haploinsufficiency has recently been identified as a cause of intellectual disability and macrocephaly. Here we describe two patients with pathogenic variants in NFIB. The first...
17.
Islam F, Htun S, Lai L, Krall M, Poranki M, Martin P, et al.
Clin Genet
. 2020 Aug;
98(5):499-506.
PMID: 32799327
Next-generation sequencing strategies have resulted in mutation detection rates of 21% to 61% in small cohorts of patients with microphthalmia, anophthalmia and coloboma (MAC), but despite progress in identifying novel...
18.
Solomon B, Slavotinek A
Am J Med Genet A
. 2020 Jul;
182(9):2003-2004.
PMID: 32700360
No abstract available.
19.
Beleford D, Van Ziffle J, Hodoglugil U, Slavotinek A
Eur J Med Genet
. 2020 Jun;
63(9):103969.
PMID: 32534219
We describe a three year old female who underwent clinical exome sequencing and was diagnosed with BCL11A-related intellectual disability/Dias-Logan syndrome due to a de novo, heterozygous variant in the BCL11A...
20.
Slavotinek A, Solomon B
Am J Med Genet A
. 2020 Jun;
182(7):1553-1554.
PMID: 32519470
No abstract available.