Blake C Ballif
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Explore the profile of Blake C Ballif including associated specialties, affiliations and a list of published articles.
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83
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4073
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Recent Articles
11.
Chowdhury S, Bandholz A, Parkash S, Dyack S, Rideout A, Leppig K, et al.
Am J Med Genet A
. 2013 Nov;
164A(1):62-9.
PMID: 24243649
A syndrome associated with 19q13.11 microdeletions has been proposed based on seven previous cases that displayed developmental delay, intellectual disability, speech disturbances, pre- and post-natal growth retardation, microcephaly, ectodermal dysplasia,...
12.
Goldlust I, Hermetz K, Catalano L, Barfield R, Cozad R, Wynn G, et al.
Proc Natl Acad Sci U S A
. 2013 Aug;
110(37):14990-4.
PMID: 23980137
Obesity is a highly heritable condition and a risk factor for other diseases, including type 2 diabetes, cardiovascular disease, hypertension, and cancer. Recently, genomic copy number variation (CNV) has been...
13.
Dabell M, Rosenfeld J, Bader P, Escobar L, El-Khechen D, Vallee S, et al.
Am J Med Genet A
. 2013 Mar;
161A(4):717-31.
PMID: 23495017
Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility for autism and schizophrenia, and similar deletions have been identified in individuals with developmental delay and dysmorphic features. We...
14.
Shaffer L, Ballif B, Theisen A, Rorem E, Bejjani B, Torchia B
Expert Opin Med Diagn
. 2013 Mar;
2(2):221-9.
PMID: 23485141
Background: The pericentromeric areas immediately flanking the centromeres are prone to instability owing to their high levels of repetitive sequences. This genomic instability makes the pericentromeric regions ideal candidates for...
15.
Shaffer L, Ballif B, Schultz R
Methods Mol Biol
. 2013 Feb;
973:69-85.
PMID: 23412784
Various microarray platforms, including BAC, oligonucleotide, and SNP arrays, have been shown to -provide clinically useful diagnostic and prognostic information for patients with myelodysplastic syndromes (MDS). Clinically useful arrays are...
16.
Paciorkowski A, Traylor R, Rosenfeld J, Hoover J, Harris C, Winter S, et al.
Neurogenetics
. 2013 Feb;
14(2):99-111.
PMID: 23389741
MEF2C haploinsufficiency syndrome is an emerging neurodevelopmental disorder associated with intellectual disability, autistic features, epilepsy, and abnormal movements. We report 16 new patients with MEF2C haploinsufficiency, including the oldest reported...
17.
Gruver A, Rogers H, Cook J, Ballif B, Schultz R, Batanian J, et al.
Diagn Mol Pathol
. 2013 Feb;
22(1):10-21.
PMID: 23370423
Acute promyelocytic leukemia (APL) is typically defined at the molecular level by a reciprocal translocation of the promyelocytic leukemia (PML) and retinoic acid receptor α (RARA) genes. An accurate diagnosis...
18.
Wapner R, Martin C, Levy B, Ballif B, Eng C, Zachary J, et al.
N Engl J Med
. 2012 Dec;
367(23):2175-84.
PMID: 23215555
Background: Chromosomal microarray analysis has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. We aimed to evaluate the accuracy, efficacy, and...
19.
Girirajan S, Rosenfeld J, Coe B, Parikh S, Friedman N, Goldstein A, et al.
N Engl J Med
. 2012 Sep;
367(14):1321-31.
PMID: 22970919
Background: Some copy-number variants are associated with genomic disorders with extreme phenotypic heterogeneity. The cause of this variation is unknown, which presents challenges in genetic diagnosis, counseling, and management. Methods:...
20.
Lage K, Greenway S, Rosenfeld J, Wakimoto H, Gorham J, V Segre A, et al.
Proc Natl Acad Sci U S A
. 2012 Aug;
109(35):14035-40.
PMID: 22904188
Congenital heart disease (CHD) occurs in ∼1% of newborns. CHD arises from many distinct etiologies, ranging from genetic or genomic variation to exposure to teratogens, which elicit diverse cell and...