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Search life-sciences literature (45,100,050 articles, preprints and more)

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Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features.
Sharma P, McFadden JR, Frost FG, Markello TC, Grange DK, Introne WJ, Gahl WA, Malicdan MCV
Hum Genet, 25 Oct 2024
Cited by: 0 articles | PMID: 39453476
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Autosomal recessive <i>VWA1</i>-related disorder: comprehensive analysis of phenotypic variability and genetic mutations.
Nagy S, Pagnamenta AT, Cali E, Braakman HMH, Wijntjes J, Kusters B, Gotkine M, Elpeleg O, Meiner V, Lenberg J, Wigby K, Friedman J, Perry LD, Rossor AM, Uhrova Meszarosova A, Thomasova D, Jacob S, O'Driscoll M, De Simone L, [...] Maroofian R
Brain Commun, 6(6):fcae377, 28 Oct 2024
Cited by: 0 articles | PMID: 39502942 | PMCID: PMC11535570
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Electrophysiology of Human iPSC-derived Vascular Smooth Muscle Cells and Cell-autonomous Consequences of Cantú Syndrome Mutations.
Hanson A, McClenaghan C, Weng KC, Colijn S, Stratman AN, Halabi CM, Grange DK, Silva JR, Nichols CG
Function (Oxf), 5(5):zqae027, 01 Sep 2024
Cited by: 0 articles | PMID: 38984978 | PMCID: PMC11388097
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Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1-related RASopathy.
Grange DK, Wegner DJ, Wambach JA, Sisco KA, Stone SI, Sheehan JH, Ramsey KM, Narayanan V, Rauen KA, Cole FS, Undiagnosed Diseases Network
Am J Med Genet A, e63854, 21 Aug 2024
Cited by: 0 articles | PMID: 39166407
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Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency.
Christ SE, Arnold G, Lichter-Konecki U, Berry GT, Grange DK, Harding CO, Jurecki E, Levy H, Longo N, Morotti H, Sacharow S, Thomas J, White DA
Mol Genet Metab, 143(1-2):108541, 22 Jul 2024
Cited by: 0 articles | PMID: 39059270
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A novel ABCC9 variant in a Greek family with Cantu syndrome affecting multiple generations highlights the functional role of the SUR2B NBD1.
Gao J, Ververi A, Thompson E, Tryon R, Sotiriadis A, Rouvalis F, Grange DK, Giannios C, Nichols CG
Am J Med Genet A, 194(12):e63815, 19 Jul 2024
Cited by: 0 articles | PMID: 39031464
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Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.
Moulton MJ, Atala K, Zheng Y, Dutta D, Grange DK, Lin WW, Wegner DJ, Wambach JA, Duker AL, Bober MB, Kratz L, Wise CA, Oxendine I, Khanshour A, Undiagnosed Diseases Network, Wangler MF, Yamamoto S, Cole FS, Rios J, Bellen HJ
Genet Med, 26(9):101174, 03 Jun 2024
Cited by: 0 articles | PMID: 38847193
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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, [...] Yang J
Am J Hum Genet, 111(6):1240, 14 May 2024
Cited by: 0 articles | PMID: 38749428 | PMCID: PMC11179398
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Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Jones AG, Aquilino M, Tinker RJ, Duncan L, Jenkins Z, Carvill GL, DeWard SJ, Grange DK, Hajianpour MJ, Halliday BJ, Holder-Espinasse M, Horvath J, Maitz S, Nigro V, Morleo M, Paul V, Spencer C, Esterhuizen AI, Polster T, [...] Robertson SP
Am J Hum Genet, 111(4):729-741, 01 Apr 2024
Cited by: 0 articles | PMID: 38579670 | PMCID: PMC11023914
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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, [...] Juusola J
Am J Hum Genet, 111(4):778-790, 25 Mar 2024
Cited by: 0 articles | PMID: 38531365 | PMCID: PMC11023921
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Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial.
Vockley J, Sondheimer N, Puurunen M, Diaz GA, Ginevic I, Grange DK, Harding C, Northrup H, Phillips JA, Searle S, Thomas JA, Zori R, Denney WS, Ernst SL, Humphreys K, McWhorter N, Kurtz C, Brennan AM
Nat Metab, 5(10):1685-1690, 28 Sep 2023
Cited by: 3 articles | PMID: 37770764
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PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations.
Starosta RT, Kerashvili N, Pruitt C, Schultz MJ, Boyer SW, Morava E, Lasio MLD, Grange DK
JIMD Rep, 64(6):424-433, 20 Sep 2023
Cited by: 1 article | PMID: 37927489
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Effects of TP63 mutations on keratinocyte adhesion and migration.
Salois MN, Gugger JA, Webb S, Sheldon CE, Parraga SP, Lewitt GM, Grange DK, Koch PJ, Koster MI
Exp Dermatol, 32(9):1575-1581, 11 Jul 2023
Cited by: 0 articles | PMID: 37432020 | PMCID: PMC10529328
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Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency.
Wongkittichote P, Cuddapah SR, Master SR, Grange DK, Dietzen D, Roper SM, Ganetzky RD
JIMD Rep, 64(5):367-374, 04 Aug 2023
Cited by: 4 articles | PMID: 37701333 | PMCID: PMC10494496
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Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome K_ATP Channel Mutations in Intact Cells.
Gao J, McClenaghan C, Matreyek KA, Grange DK, Nichols CG
J Pharmacol Exp Ther, 386(3):298-309, 01 Aug 2023
Cited by: 2 articles | PMID: 37527933 | PMCID: PMC10449099
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Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Accogli A, Lin SJ, Severino M, Kim SH, Huang K, Rocca C, Landsverk M, Zaki MS, Al-Maawali A, Srinivasan VM, Al-Thihli K, Schaefer GB, Davis M, Tonduti D, Doneda C, Marten LM, Mühlhausen C, Gomez M, Lamantea E, [...] Maroofian R
Genet Med, 25(11):100938, 13 Jul 2023
Cited by: 2 articles | PMID: 37454282
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Electrophysiology of human iPSC-derived vascular smooth muscle cells and cell autonomous consequences of Cantu Syndrome mutations
Hanson A, McClenaghan C, Weng K, Colijn S, Stratman AN, Halabi CM, Grange DK, Silva JR, Nichols CG
bioRxiv, 01 Jul 2023
Cited by: 0 articles | PPR: PPR684998
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Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Wojcik MH, Srivastava S, Agrawal PB, Balci TB, Callewaert B, Calvo PL, Carli D, Caudle M, Colaiacovo S, Cross L, Demetriou K, Drazba K, Dutra-Clarke M, Edwards M, Genetti CA, Grange DK, Hickey SE, Isidor B, Küry S, [...] Curry CJ
Am J Med Genet A, 191(7):1900-1910, 14 May 2023
Cited by: 4 articles | PMID: 37183572
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Effects of TP63 Mutations on Keratinocyte Adhesion and Migration
Salois MN, Gugger JA, Webb S, Sheldon CE, Parraga SP, Lewitt GM, Grange DK, Koch PJ, Koster MI
bioRxiv, 05 May 2023
Cited by: 0 articles | PPR: PPR655529
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Postmortem diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency in a neonate with sudden cardiac death.
Singh P, Amaro D, Obi O, Kiran F, Hediger E, Toler TL, Dickson PI, Grange DK
JIMD Rep, 64(4):261-264, 30 Apr 2023
Cited by: 1 article | PMID: 37404675 | PMCID: PMC10315371
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Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.
Patterson V, Ullah F, Bryant L, Griffin JN, Sidhu A, Saliganan S, Blaile M, Saenz MS, Smith R, Ellingwood S, Grange DK, Hu X, Mireguli M, Luo Y, Shen Y, Mulhern M, Zackai E, Ritter A, Izumi K, [...] Bhoj E
Sci Adv, 9(17):eade0631, 26 Apr 2023
Cited by: 0 articles | PMID: 37126546 | PMCID: PMC10132768
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Newborn screening for mucopolysaccharidosis type II: Lessons learned.
Burton BK, Shively V, Quadri A, Warn L, Burton J, Grange DK, Christensen K, Groepper D, Ashbaugh L, Ehrhardt J, Basheeruddin K
Mol Genet Metab, 140(1-2):107557, 06 Mar 2023
Cited by: 3 articles | PMID: 36907694
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TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.
Albokhari D, Pritchard AB, Beil A, Muss C, Bupp C, Grange DK, Delplancq G, Heeley J, Zuteck M, Morrow MM, Kuentz P, Palculict TB, Hoover-Fong JE
Am J Med Genet A, 191(5):1261-1272, 16 Feb 2023
Cited by: 4 articles | PMID: 36797513
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Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia.
Schneider H, Hadj-Rabia S, Faschingbauer F, Bodemer C, Grange DK, Norton ME, Cavalli R, Tadini G, Stepan H, Clarke A, Guillén-Navarro E, Maier-Wohlfart S, Bouroubi A, Porte F
Genes (Basel), 14(1):153, 06 Jan 2023
Cited by: 4 articles | PMID: 36672894 | PMCID: PMC9858920
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Novel LIAS variants in a patient with epilepsy and profound developmental disabilities.
Wongkittichote P, Chhay C, Zerafati-Jahromi G, Weisenberg JL, Mian A, Jensen LT, Grange DK
Mol Genet Metab, 138(3):107373, 07 Jan 2023
Cited by: 1 article | PMID: 36680912
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