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A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.
Lee AS, Ayers LJ, Kosicki M, Chan WM, Fozo LN, Pratt BM, Collins TE, Zhao B, Rose MF, Sanchis-Juan A, Fu JM, Wong I, Zhao X, Tenney AP, Lee C, Laricchia KM, Barry BJ, Bradford VR, Jurgens JA, [...] Engle EC
Nat Commun, 15(1):8268, 27 Sep 2024
Cited by: 1 article | PMID: 39333082 | PMCID: PMC11436875
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Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays
Jurgens JA, Ruiz PMM, King J, Foster EE, Berube L, Chan W, Barry BJ, Jeong R, Rothman E, Whitman MC, MacKinnon S, Rivera-Quiles C, Pratt BM, Easterbrooks T, Mensching FM, Di Gioia SA, Pais L, England EM, de Berardinis T, [...] Engle EC
bioRxiv, 15 Sep 2024
Cited by: 0 articles | PPR: PPR911491
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Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA, Barry BJ, Chan WM, MacKinnon S, Whitman MC, Matos Ruiz PM, Pratt BM, England EM, Pais L, Lemire G, Groopman E, Glaze C, Russell KA, Singer-Berk M, Di Gioia SA, Lee AS, Andrews C, Shaaban S, Wirth MM, [...] Engle EC
Genet Med, 101216, 17 Jul 2024
Cited by: 2 articles | PMID: 39033378
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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Töpf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, Vroling B, Stenton SL, Cummings BB, Harris E, [...] Straub V
Nat Genet, 56(3):395-407, 01 Mar 2024
Cited by: 3 articles | PMID: 38429495
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Neurodevelopmental disorders associated variants inADAT3disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration
Del-Pozo-Rodriguez J, Tilly P, Lecat R, Vaca HR, Mosser L, Balla T, Gomes MV, Ramos-Morales E, Brivio E, Salinas-Giégé T, VanNoy G, England EM, Lovgren AK, O’Leary M, Chopra M, Gable D, Alnuzha A, Kamel M, Almenabawy N, [...] Godin JD
medRxiv, 05 Mar 2024
Cited by: 0 articles | PPR: PPR813923
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Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
Jurgens JA, Barry BJ, Chan W, MacKinnon S, Whitman MC, Matos Ruiz PM, Pratt BM, England EM, Pais L, Lemire G, Groopman E, Glaze C, Russell KA, Singer-Berk M, Di Gioia SA, Lee AS, Andrews C, Shaaban S, Wirth MM, [...] Engle EC
medRxiv, 26 Mar 2024
Cited by: 0 articles | PPR: PPR827591
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A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.
Lecoquierre F, Punt AM, Ebstein F, Wallaard I, Verhagen R, Studencka-Turski M, Duffourd Y, Moutton S, Tran Mau-Them F, Philippe C, Dean J, Tennant S, Brooks AS, van Slegtenhorst MA, Jurgens JA, Barry BJ, Chan WM, England EM, Martinez Ojeda M, [...] Vitobello A
Genet Med, 26(6):101119, 07 Mar 2024
Cited by: 1 article | PMID: 38465576 | PMCID: PMC11257750
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Spectro 1-A Potential Spectrophotometer for Measuring Color and Myoglobin Forms in Beef.
Stafford CD, Taylor MJ, Dang DS, England EM, Cornforth DP, Dai X, Matarneh SK
Foods, 11(14):2091, 14 Jul 2022
Cited by: 1 article | PMID: 35885335 | PMCID: PMC9321346
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Cochlear nerve deficiency in SOX11-related Coffin-Siris syndrome.
Alburaiky S, Taylor J, O'Grady G, Thomson G, Perry D, England EM, Yap P
Am J Med Genet A, 188(8):2460-2465, 01 Jun 2022
Cited by: 0 articles | PMID: 35642566
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Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.
Natera-de Benito D, Jurgens JA, Yeung A, Zaharieva IT, Manzur A, DiTroia SP, Di Gioia SA, Pais L, Pini V, Barry BJ, Chan WM, Elder JE, Christodoulou J, Hay E, England EM, Munot P, Hunter DG, Feng L, Ledoux D, [...] Muntoni F
Hum Mutat, 43(4):487-498, 03 Feb 2022
Cited by: 7 articles | PMID: 35077597 | PMCID: PMC8960342
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Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans.
Gudmundsson S, Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, [...] MacArthur DG
Nature, 597(7874):E3-E4, 01 Sep 2021
Cited by: 31 articles | PMID: 34373650 | PMCID: PMC8410591
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Nix Pro 2 and Color Muse as potential colorimeters for evaluating color in foods
Dang DS, Buhler JF, Stafford CD, Taylor MJ, Shippen JE, Dai X, England EM, Matarneh SK
Lebensm Wiss Technol, 147:Not Available, 01 Jul 2021
Cited by: 0 articles | AGR: IND607363202
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Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Duncan AR, Polovitskaya MM, Gaitán-Peñas H, Bertelli S, VanNoy GE, Grant PE, O'Donnell-Luria A, Valivullah Z, Lovgren AK, England EM, Agolini E, Madden JA, Schmitz-Abe K, Kritzer A, Hawley P, Novelli A, Alfieri P, Colafati GS, Wieczorek D, [...] Agrawal PB
Am J Hum Genet, 108(8):1450-1465, 28 Jun 2021
Cited by: 17 articles | PMID: 34186028 | PMCID: PMC8387284
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Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders.
Gafner M, Michelson M, Argilli E, Yosovich K, Sherr EH, Parks KC, England EM, Hady-Cohen R, Leibovitz Z, Lev D, Michaeli-Yosef Y, Lerman-Sagie T, Blumkin L
J Hum Genet, 67(2):95-101, 16 Aug 2021
Cited by: 1 article | PMID: 34400773 | PMCID: PMC10256137
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A form of muscular dystrophy associated with pathogenic variants in JAG2.
Coppens S, Barnard AM, Puusepp S, Pajusalu S, Õunap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, [...] Kang PB
Am J Hum Genet, 108(6):1164, 01 Jun 2021
Cited by: 3 articles | PMID: 34087166 | PMCID: PMC8206378
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The effects of age, sex, and hot carcass weight on cooked lamb flavor and off-flavor in four muscle cuts.
Garza H, Jaborek JR, Zerby HN, Moeller SJ, Wick MP, Fluharty FL, England EM, Garcia LG
Transl Anim Sci, 5(3):txab083, 10 May 2021
Cited by: 1 article | PMID: 34514346 | PMCID: PMC8420813
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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Jeanne M, Demory H, Moutal A, Vuillaume ML, Blesson S, Thépault RA, Marouillat S, Halewa J, Maas SM, Motazacker MM, Mancini GMS, van Slegtenhorst MA, Andreou A, Cox H, Vogt J, Laufman J, Kostandyan N, Babikyan D, Hancarova M, [...] Laumonnier F
Am J Hum Genet, 108(5):951-961, 23 Apr 2021
Cited by: 17 articles | PMID: 33894126 | PMCID: PMC8206156
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A form of muscular dystrophy associated with pathogenic variants in JAG2.
Coppens S, Barnard AM, Puusepp S, Pajusalu S, Õunap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, [...] Kang PB
Am J Hum Genet, 108(5):840-856, 15 Apr 2021
Cited by: 6 articles | PMID: 33861953 | PMCID: PMC8206160
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Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development.
Jurgens JA, Barry BJ, Lemire G, Chan WM, Whitman MC, Shaaban S, Robson CD, MacKinnon S, England EM, McMillan HJ, Kelly C, Pratt BM, Care4Rare Canada Consortium, O'Donnell-Luria A, MacArthur DG, Boycott KM, Hunter DG, Engle EC
Eur J Hum Genet, 29(5):816-826, 01 Mar 2021
Cited by: 12 articles | PMID: 33649541 | PMCID: PMC8110841
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Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans.
Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA, [...] MacArthur DG
Nature, 590(7846):E53, 01 Feb 2021
Cited by: 45 articles | PMID: 33536625 | PMCID: PMC8064911
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Phosphorylation state of pyruvate dehydrogenase and metabolite levels in turkey skeletal muscle in normal and pale, soft, exudative meats.
Aljarbou WA, England EM, Velleman SG, Reed KM, Strasburg GM
Br Poult Sci, 62(3):379-386, 08 Jan 2021
Cited by: 0 articles | PMID: 33225715
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Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Dyment DA, O'Donnell-Luria A, Agrawal PB, Coban Akdemir Z, Aleck KA, Antaki D, Al Sharhan H, Au PB, Aydin H, Beggs AH, Bilguvar K, Boerwinkle E, Brand H, Brownstein CA, Buyske S, Chodirker B, Choi J, Chudley AE, Clericuzio CL, [...] Innes AM
Am J Med Genet A, 185(1):119-133, 24 Oct 2020
Cited by: 9 articles | PMID: 33098347 | PMCID: PMC8197629
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At physiological concentrations, AMP increases phosphofructokinase-1 activity compared to fructose 2, 6-bisphosphate in postmortem porcine skeletal muscle.
Chauhan SS, LeMaster M, England EM
Meat Sci, 172:108332, 30 Sep 2020
Cited by: 2 articles | PMID: 33038798
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Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casasús AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG, [...] Straub V
Genet Med, 22(9):1478-1488, 11 Jun 2020
Cited by: 49 articles | PMID: 32528171 | PMCID: PMC7462745
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The mutational constraint spectrum quantified from variation in 141,456 humans.
Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA, [...] MacArthur DG
Nature, 581(7809):434-443, 27 May 2020
Cited by: 4584 articles | PMID: 32461654 | PMCID: PMC7334197
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