John M Graham Jr
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Explore the profile of John M Graham Jr including associated specialties, affiliations and a list of published articles.
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149
Citations
3209
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Recent Articles
1.
Schwartz C, Aylsworth A, Allanson J, Battaglia A, Carey J, Curry C, et al.
Am J Med Genet A
. 2024 Feb;
194(6):e63514.
PMID: 38329159
Genetics has become a critical component of medicine over the past five to six decades. Alongside genetics, a relatively new discipline, dysmorphology, has also begun to play an important role...
2.
Slocum R, Hurst A, Shelley E, Berry L, Hopkin R, Rippert A, et al.
Am J Med Genet C Semin Med Genet
. 2023 Dec;
196(2-3):e32079.
PMID: 38050656
No abstract available.
3.
Verscaj C, Velez-Bartolomei F, Bodle E, Chan K, Lyons M, Thorson W, et al.
Prenat Diagn
. 2023 Aug;
44(2):237-246.
PMID: 37632214
Objective: Recurrent deletions involving 17q12 are associated with a variety of clinical phenotypes, including congenital abnormalities of the kidney and urinary tract (CAKUT), maturity onset diabetes of the young, type...
4.
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, et al.
Am J Med Genet A
. 2023 Jun;
191(8):2113-2131.
PMID: 37377026
Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial,...
5.
Sheppard S, Bryant L, Wickramasekara R, Vaccaro C, Robertson B, Hallgren J, et al.
Sci Adv
. 2023 Mar;
9(10):eade1463.
PMID: 36897941
Pathogenic variants in , a lysine methyltransferase, are associated with global developmental delay, macrocephaly, autism, and congenital anomalies (OMIM 617788). Given the relatively recent discovery of this disorder, it has...
6.
Veale E, Golluscio A, Grand K, Graham Jr J, Mathie A
Front Pharmacol
. 2023 Jan;
13:1093313.
PMID: 36618935
Numerous pathogenic variants in , which encodes the voltage-gated potassium channel, K2.1, are linked to developmental and epileptic encephalopathies and associated with loss-of-function, -regulation, and -expression of the channel. Here...
7.
Sobering A, Bryant L, Li D, McGaughran J, Maystadt I, Moortgat S, et al.
HGG Adv
. 2022 Dec;
4(1):100168.
PMID: 36583168
[This corrects the article DOI: 10.1016/j.xhgg.2022.100102.].
8.
Schirwani S, Woods E, Koolen D, Ockeloen C, Lynch S, Kavanagh K, et al.
Am J Med Genet A
. 2022 Sep;
191(1):29-36.
PMID: 36177608
De novo truncating and splicing pathogenic variants in the Additional Sex Combs-Like 3 (ASXL3) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteristic...
9.
Choufani S, McNiven V, Cytrynbaum C, Jangjoo M, Adam M, Bjornsson H, et al.
Am J Hum Genet
. 2022 Sep;
109(10):1867-1884.
PMID: 36130591
Au-Kline syndrome (AKS) is a neurodevelopmental disorder associated with multiple malformations and a characteristic facial gestalt. The first individuals ascertained carried de novo loss-of-function (LoF) variants in HNRNPK. Here, we...
10.
Postma J, Zambonin J, Khouj E, Alyamani S, Graham Jr J, Alkuraya F, et al.
Am J Med Genet A
. 2022 Aug;
188(11):3350-3357.
PMID: 35962715
Microcephaly-Capillary Malformation syndrome (MIC-CAP) is a rare genetic disorder reported in 18 individuals to date. The clinical features typically include microcephaly, multiple cutaneous capillary malformations, seizures, neurologic impairment, and global...