Karen Wain

Geisinger Health System - Danville / United States

Natural Sciences / Biological Science

AD Scientific Index ID: 4608015

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Karen Wain's MOST POPULAR ARTICLES

1-) Towards an evidence‐based process for the clinical interpretation of copy number variationER Riggs, DM Church, K Hanson, VL Horner, EB Kaminsky, RM Kuhn, ...Clinical genetics 81 (5), 403-412, 20121122012

2-) Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotypeN Hoppman‐Chaney, K Wain, PR Seger, DW Superneau, JC HodgeClinical genetics 83 (4), 345-351, 20131042013

3-) Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implicationsKM Johannesen, Y Liu, M Koko, CE Gjerulfsen, L Sonnenberg, J Schubert, ...Brain 145 (9), 2991-3009, 20221042022

4-) Molecular diagnostic yield of exome sequencing in patients with cerebral palsyA Moreno-De-Luca, F Millan, DR Pesacreta, HZ Elloumi, MT Oetjens, ...Jama 325 (5), 467-475, 20211032021

5-) Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart reviewKE Wain, MS Ellingson, J McDonald, A Gammon, M Roberts, P Pichurin, ...Genetics in Medicine 16 (8), 588-593, 20141012014

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