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Page 1
Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition.
Sheppard SE, March ME, Seiler C, Matsuoka LS, Kim SE, Kao C, Rubin AI, Battig MR, Khalek N, Schindewolf E, O'Connor N, Pinto E, Priestley JR, Sanders VR, Niazi R, Ganguly A, Hou C, Slater D, Frieden IJ, Huynh T, Shieh JT, Krantz ID, Guerrero JC, Surrey LF, Biko DM, Laje P, Castelo-Soccio L, Nakano TA, Snyder K, Smith CL, Li D, Dori Y, Hakonarson H. Sheppard SE, et al. Among authors: schindewolf e. JCI Insight. 2023 May 8;8(9):e155888. doi: 10.1172/jci.insight.155888. JCI Insight. 2023. PMID: 37154160 Free PMC article.
Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm.
Sheppard SE, Smith A, Grand K, Pogoriler J, Rubin AI, Schindewolf E, Fitzgerald MP, Moldenhauer J, Laje P, Peranteau W, Bhoj E, McMahon P, Castelo-Soccio L. Sheppard SE, et al. Among authors: schindewolf e. Am J Med Genet A. 2020 Apr;182(4):746-754. doi: 10.1002/ajmg.a.61490. Epub 2020 Jan 21. Am J Med Genet A. 2020. PMID: 31961058 Free PMC article.
Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome.
Pritchard AB, Kanai SM, Krock B, Schindewolf E, Oliver-Krasinski J, Khalek N, Okashah N, Lambert NA, Tavares ALP, Zackai E, Clouthier DE. Pritchard AB, et al. Among authors: schindewolf e. Am J Med Genet A. 2020 May;182(5):1104-1116. doi: 10.1002/ajmg.a.61531. Epub 2020 Mar 5. Am J Med Genet A. 2020. PMID: 32133772 Free PMC article.
What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.
Campbell IM, Sheppard SE, Crowley TB, McGinn DE, Bailey A, McGinn MJ, Unolt M, Homans JF, Chen EY, Salmons HI, Gaynor JW, Goldmuntz E, Jackson OA, Katz LE, Mascarenhas MR, Deeney VFX, Castelein RM, Zur KB, Elden L, Kallish S, Kolon TF, Hopkins SE, Chadehumbe MA, Lambert MP, Forbes BJ, Moldenhauer JS, Schindewolf EM, Solot CB, Moss EM, Gur RE, Sullivan KE, Emanuel BS, Zackai EH, McDonald-McGinn DM. Campbell IM, et al. Among authors: schindewolf em. Am J Med Genet A. 2018 Oct;176(10):2058-2069. doi: 10.1002/ajmg.a.40637. Am J Med Genet A. 2018. PMID: 30380191 Free PMC article.
Molecular diagnosis of somatic overgrowth conditions: A single-center experience.
Lalonde E, Ebrahimzadeh J, Rafferty K, Richards-Yutz J, Grant R, Toorens E, Marie Rosado J, Schindewolf E, Ganguly T, Kalish JM, Deardorff MA, Ganguly A. Lalonde E, et al. Among authors: schindewolf e. Mol Genet Genomic Med. 2019 Mar;7(3):e536. doi: 10.1002/mgg3.536. Epub 2019 Feb 13. Mol Genet Genomic Med. 2019. PMID: 30761771 Free PMC article.
Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study.
Ron HA, Crowley TB, Liu Y, Unolt M, Schindewolf E, Moldenhauer J, Rychik J, Goldmuntz E, Emanuel BS, Ryba D, Gaynor JW, Zackai EH, Hakonarson H, McDonald-McGinn DM. Ron HA, et al. Among authors: schindewolf e. Genes (Basel). 2022 Dec 24;14(1):62. doi: 10.3390/genes14010062. Genes (Basel). 2022. PMID: 36672801 Free PMC article.
26 results