LORRAINE POTOCKI to Haploinsufficiency
This is a "connection" page, showing publications LORRAINE POTOCKI has written about Haploinsufficiency.
Connection Strength
0.327
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Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans. Am J Med Genet A. 2021 03; 185(3):836-840.
Score: 0.148
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Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function. Am J Med Genet A. 2017 Mar; 173(3):716-720.
Score: 0.113
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Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy. Hum Genet. 2016 10; 135(10):1161-74.
Score: 0.027
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A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men. PLoS Genet. 2012; 8(5):e1002713.
Score: 0.020
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Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome. J Allergy Clin Immunol. 2011 Jun; 127(6):1579-86.
Score: 0.019