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Mahim Jain
Mahim Jain
Adresse e-mail validée de kennedykrieger.org
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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
N Craddock, ME Hurles, N Cardin, RD Pearson, V Plagnol, S Robson, ...
Nature 464 (7289), 713, 2010
9332010
Asprosin, a fasting-induced glucogenic protein hormone
C Romere, C Duerrschmid, J Bournat, P Constable, M Jain, F Xia, ...
Cell 165 (3), 566-579, 2016
4972016
A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication
M Arcos-Burgos, M Jain, MT Acosta, S Shively, H Stanescu, D Wallis, ...
Molecular psychiatry 15 (11), 1053, 2010
3352010
Asprosin is a centrally acting orexigenic hormone
C Duerrschmid, Y He, C Wang, C Li, JC Bournat, C Romere, PK Saha, ...
Nature medicine 23 (12), 1444, 2017
3122017
Chloride transport across vesicle and cell membranes by steroid‐based receptors
AV Koulov, TN Lambert, R Shukla, M Jain, JM Boon, BD Smith, H Li, ...
Angewandte Chemie International Edition 42 (40), 4931-4933, 2003
2122003
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ...
Nature Communications 10 (1), 3094, 2019
1872019
MARRVEL: integration of human and model organism genetic resources to facilitate functional annotation of the human genome
J Wang, R Al-Ouran, Y Hu, SY Kim, YW Wan, MF Wangler, S Yamamoto, ...
The American Journal of Human Genetics 100 (6), 843-853, 2017
1772017
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
JJ Johnston, JJ van der Smagt, JA Rosenfeld, AT Pagnamenta, A Alswaid, ...
Genetics in Medicine 20 (10), 1175, 2018
1642018
The undiagnosed diseases network: accelerating discovery about health and disease
RB Ramoni, JJ Mulvihill, DR Adams, P Allard, EA Ashley, JA Bernstein, ...
The American Journal of Human Genetics 100 (2), 185-192, 2017
1592017
Heterozygous truncating variants in POMP escape nonsense-mediated decay and cause a unique immune dysregulatory syndrome
MC Poli, F Ebstein, SK Nicholas, MM de Guzman, LR Forbes, IK Chinn, ...
The American Journal of Human Genetics 102 (6), 1126-1142, 2018
1462018
A recurrent p. Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development
A Bashamboo, PA Donohoue, E Vilain, S Rojo, P Calvel, SN Seneviratne, ...
Human molecular genetics 25 (16), 3446-3453, 2016
1222016
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis
E Klopocki, S Lohan, F Brancati, R Koll, A Brehm, P Seemann, K Dathe, ...
The American Journal of Human Genetics 88 (1), 70-75, 2011
1222011
A syndromic neurodevelopmental disorder caused by de novo variants in EBF3
HT Chao, M Davids, E Burke, JG Pappas, JA Rosenfeld, AJ McCarty, ...
The American Journal of Human Genetics 100 (1), 128-137, 2017
1142017
Attention-deficit/hyperactivity disorder and comorbid disruptive behavior disorders: evidence of pleiotropy and new susceptibility loci
M Jain, LG Palacio, FX Castellanos, JD Palacio, D Pineda, MI Restrepo, ...
Biological psychiatry 61 (12), 1329-1339, 2007
1102007
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31. 3 microdeletion syndrome
SR Lalani, J Zhang, CP Schaaf, CW Brown, P Magoulas, ACH Tsai, ...
The American Journal of Human Genetics 95 (5), 579-583, 2014
1082014
IRF2BPL is associated with neurological phenotypes
PC Marcogliese, V Shashi, RC Spillmann, N Stong, JA Rosenfeld, ...
The American Journal of Human Genetics 103 (2), 245-260, 2018
922018
A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD
M Jain, JI Vélez, MT Acosta, LG Palacio, J Balog, E Roessler, D Pineda, ...
Molecular psychiatry 17 (7), 741, 2012
752012
Biallelic mutations in ATP5F1D, which encodes a subunit of ATP synthase, cause a metabolic disorder
M Oláhová, WH Yoon, K Thompson, S Jangam, L Fernandez, ...
The American Journal of Human Genetics 102 (3), 494-504, 2018
722018
Expanding the spectrum of BAF-related disorders: de novo variants in SMARCC2 cause a syndrome with intellectual disability and developmental delay
K Machol, J Rousseau, S Ehresmann, T Garcia, TTM Nguyen, ...
The American Journal of Human Genetics 104 (1), 164-178, 2019
712019
De novo truncating variants in ASXL2 are associated with a unique and recognizable clinical phenotype
V Shashi, LDM Pena, K Kim, B Burton, M Hempel, K Schoch, ...
The American Journal of Human Genetics 99 (4), 991-999, 2016
682016
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