Janson J White
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Explore the profile of Janson J White including associated specialties, affiliations and a list of published articles.
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17
Citations
552
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Recent Articles
1.
Blue E, Moore K, North K, Desrosiers T, Carmichael S, White J, et al.
Birth Defects Res
. 2024 Jul;
116(7):e2384.
PMID: 38990107
Background: Primary congenital glaucoma (PCG) affects approximately 1 in 10,000 live born infants in the United States (U.S.). PCG has a autosomal recessive inheritance pattern, and variable expressivity and reduced...
2.
Blue E, White J, Dush M, Gordon W, Wyatt B, White P, et al.
HGG Adv
. 2023 Sep;
4(4):100232.
PMID: 37663545
Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect (CHD) characterized by hypoplasia of the left ventricle and aorta along with stenosis or atresia of the aortic and...
3.
Lima A, Ferreira B, Zhang C, Jolly A, Du H, White J, et al.
Hum Mutat
. 2022 Mar;
43(7):900-918.
PMID: 35344616
Robinow syndrome is characterized by a triad of craniofacial dysmorphisms, disproportionate-limb short stature, and genital hypoplasia. A significant degree of phenotypic variability seems to correlate with different genes/loci. Disturbances of...
4.
Hildebrandt C, Patel N, Graham Jr J, Bamshad M, Nickerson D, White J, et al.
Am J Med Genet A
. 2021 Mar;
185(7):2136-2149.
PMID: 33783941
Van den Ende-Gupta syndrome (VDEGS) is a rare autosomal recessive condition characterized by distinctive facial and skeletal features, and in most affected persons, by biallelic pathogenic variants in SCARF2. We...
5.
Paine I, Posey J, Grochowski C, Jhangiani S, Rosenheck S, Kleyner R, et al.
Am J Hum Genet
. 2019 Jul;
105(2):302-316.
PMID: 31256877
Members of a paralogous gene family in which variation in one gene is known to cause disease are eight times more likely to also be associated with human disease. Recent...
6.
Jolly A, Bayram Y, Turan S, Aycan Z, Tos T, Yavas Abali Z, et al.
J Clin Endocrinol Metab
. 2019 May;
104(8):3049-3067.
PMID: 31042289
Context: Primary ovarian insufficiency (POI) encompasses a spectrum of premature menopause, including both primary and secondary amenorrhea. For 75% to 90% of individuals with hypergonadotropic hypogonadism presenting as POI, the...
7.
Posey J, ODonnell-Luria A, Chong J, Harel T, Jhangiani S, Coban Akdemir Z, et al.
Genet Med
. 2019 Jan;
21(4):798-812.
PMID: 30655598
Identifying genes and variants contributing to rare disease phenotypes and Mendelian conditions informs biology and medicine, yet potential phenotypic consequences for variation of >75% of the ~20,000 annotated genes in...
8.
Coban-Akdemir Z, White J, Song X, Jhangiani S, Fatih J, Gambin T, et al.
Am J Hum Genet
. 2018 Jul;
103(2):171-187.
PMID: 30032986
Premature termination codon (PTC)-bearing transcripts are often degraded by nonsense-mediated decay (NMD) resulting in loss-of-function (LoF) alleles. However, not all PTCs result in LoF mutations, i.e., some such transcripts escape...
9.
Gillentine M, Lozoya R, Yin J, Grochowski C, White J, Schaaf C, et al.
J Affect Disord
. 2018 Jul;
239:247-252.
PMID: 30029151
Objective: Neuronal nicotinic acetylcholine receptors (nAChRs), specifically the α7 nAChR encoded by the gene CHRNA7, have been implicated in behavior regulation in animal models. In humans, copy number variants (CNVs)...
10.
White J, Mazzeu J, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, et al.
Am J Hum Genet
. 2017 Dec;
102(1):27-43.
PMID: 29276006
Locus heterogeneity characterizes a variety of skeletal dysplasias often due to interacting or overlapping signaling pathways. Robinow syndrome is a skeletal disorder historically refractory to molecular diagnosis, potentially stemming from...