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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1984 1
1986 1
1987 1
1988 1
1989 1
1990 3
1991 5
1992 3
1993 1
1994 3
1995 5
1996 1
1998 2
1999 2
2000 4
2001 1
2002 2
2003 1
2004 4
2005 3
2008 2
2009 3
2010 3
2011 4
2012 2
2013 2
2014 4
2015 4
2016 5
2017 4
2018 6
2019 4
2020 5
2021 6
2022 8
2024 4

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103 results

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Page 1
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J; Undiagnosed Diseases Network; Genomics England Research Consortium; Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN. Cousin MA, et al. Among authors: normand ea. Nat Genet. 2021 Jul;53(7):1006-1021. doi: 10.1038/s41588-021-00886-z. Epub 2021 Jul 1. Nat Genet. 2021. PMID: 34211179 Free PMC article.
Reanalysis of Clinical Exome Sequencing Data.
Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, Chiang T, Vetrini F, He W, Cheng H, Dong J, Gijavanekar C, Benke PJ, Bernstein JA, Eble T, Eroglu Y, Erwin D, Escobar L, Gibson JB, Gripp K, Kleppe S, Koenig MK, Lewis AM, Natowicz M, Mancias P, Minor L, Scaglia F, Schaaf CP, Streff H, Vernon H, Uhles CL, Zackai EH, Wu N, Sutton VR, Beaudet AL, Muzny D, Gibbs RA, Posey JE, Lalani S, Shaw C, Eng CM, Lupski JR, Yang Y. Liu P, et al. Among authors: normand ea. N Engl J Med. 2019 Jun 20;380(25):2478-2480. doi: 10.1056/NEJMc1812033. N Engl J Med. 2019. PMID: 31216405 Free PMC article. No abstract available.
Inclusive chimpanzee conservation-Response.
Kühl HS, Boesch C, Kulik L, Haas F, Arandjelovic M, Dieguez P, Bocksberger G, Agbor A, Angedakin S, Ayimisin EA, Bessone M, Brazzola G, Chancellor R, Cohen H, Coupland C, Danquah E, Deschner T, Dowd D, Goedmakers A, Granjon AC, Head J, Hedwig D, Hermans V, Jones S, Junker J, Langergraber KE, Lapuente J, Lee K, Llana M, Marrocoli S, Martin R, McCarthy MS, Meier AC, Morgan D, Murai M, Neil E, Normand E, Ormsby LJ, Pacheco L, Piel A, Regnaut S, Rundus A, Sanz C, Stewart F, Tagg N, Vergnes V, Welsh A, Wessling EG, Willie J, Wittig RM, Yuh YG, Yurkiw K, Kalan AK. Kühl HS, et al. Among authors: normand e. Science. 2019 Jun 14;364(6445):1040-1041. doi: 10.1126/science.aax6339. Science. 2019. PMID: 31197004 No abstract available.
Exome and genome sequencing in reproductive medicine.
Normand EA, Alaimo JT, Van den Veyver IB. Normand EA, et al. Fertil Steril. 2018 Feb;109(2):213-220. doi: 10.1016/j.fertnstert.2017.12.010. Epub 2018 Feb 1. Fertil Steril. 2018. PMID: 29395096 Free article. Review.
SLEAP: A deep learning system for multi-animal pose tracking.
Pereira TD, Tabris N, Matsliah A, Turner DM, Li J, Ravindranath S, Papadoyannis ES, Normand E, Deutsch DS, Wang ZY, McKenzie-Smith GC, Mitelut CC, Castro MD, D'Uva J, Kislin M, Sanes DH, Kocher SD, Wang SS, Falkner AL, Shaevitz JW, Murthy M. Pereira TD, et al. Among authors: normand e. Nat Methods. 2022 Apr;19(4):486-495. doi: 10.1038/s41592-022-01426-1. Epub 2022 Apr 4. Nat Methods. 2022. PMID: 35379947 Free PMC article.
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Karimiani EG, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Tayfun GA, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Monajemi GB, Mohammadi P, Samie S, Banu SH, Pinto Basto J, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Issa AH, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R. Kaiyrzhanov R, et al. Among authors: normand ea. Brain. 2024 Apr 4;147(4):1436-1456. doi: 10.1093/brain/awad380. Brain. 2024. PMID: 37951597 Free PMC article.
Environmental variability supports chimpanzee behavioural diversity.
Kalan AK, Kulik L, Arandjelovic M, Boesch C, Haas F, Dieguez P, Barratt CD, Abwe EE, Agbor A, Angedakin S, Aubert F, Ayimisin EA, Bailey E, Bessone M, Brazzola G, Buh VE, Chancellor R, Cohen H, Coupland C, Curran B, Danquah E, Deschner T, Dowd D, Eno-Nku M, Michael Fay J, Goedmakers A, Granjon AC, Head J, Hedwig D, Hermans V, Jeffery KJ, Jones S, Junker J, Kadam P, Kambi M, Kienast I, Kujirakwinja D, Langergraber KE, Lapuente J, Larson B, Lee KC, Leinert V, Llana M, Marrocoli S, Meier AC, Morgan B, Morgan D, Neil E, Nicholl S, Normand E, Ormsby LJ, Pacheco L, Piel A, Preece J, Robbins MM, Rundus A, Sanz C, Sommer V, Stewart F, Tagg N, Tennie C, Vergnes V, Welsh A, Wessling EG, Willie J, Wittig RM, Yuh YG, Zuberbühler K, Kühl HS. Kalan AK, et al. Among authors: normand e. Nat Commun. 2020 Sep 15;11(1):4451. doi: 10.1038/s41467-020-18176-3. Nat Commun. 2020. PMID: 32934202 Free PMC article.
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.
Acharya A, Kavus H, Dunn P, Nasir A, Folk L, Withrow K, Wentzensen IM, Ruzhnikov MRZ, Fallot C, Smol T, Rama M, Brown K, Whalen S, Ziegler A, Barth M, Chassevent A, Smith-Hicks C, Afenjar A, Courtin T, Heide S, Font-Montgomery E, Heid C, Hamm JA, Love DR, Thabet F, Misra VK, Cunningham M, Leal SM, Jarvela I, Normand EA, Zou F, Helal M, Keren B, Torti E, Chung WK, Schrauwen I. Acharya A, et al. Among authors: normand ea. J Med Genet. 2022 Jul;59(7):669-677. doi: 10.1136/jmedgenet-2021-107871. Epub 2021 Jul 28. J Med Genet. 2022. PMID: 34321324 Review.
Chimpanzee accumulative stone throwing.
Kühl HS, Kalan AK, Arandjelovic M, Aubert F, D'Auvergne L, Goedmakers A, Jones S, Kehoe L, Regnaut S, Tickle A, Ton E, van Schijndel J, Abwe EE, Angedakin S, Agbor A, Ayimisin EA, Bailey E, Bessone M, Bonnet M, Brazolla G, Buh VE, Chancellor R, Cipoletta C, Cohen H, Corogenes K, Coupland C, Curran B, Deschner T, Dierks K, Dieguez P, Dilambaka E, Diotoh O, Dowd D, Dunn A, Eshuis H, Fernandez R, Ginath Y, Hart J, Hedwig D, Ter Heegde M, Hicks TC, Imong I, Jeffery KJ, Junker J, Kadam P, Kambi M, Kienast I, Kujirakwinja D, Langergraber K, Lapeyre V, Lapuente J, Lee K, Leinert V, Meier A, Maretti G, Marrocoli S, Mbi TJ, Mihindou V, Moebius Y, Morgan D, Morgan B, Mulindahabi F, Murai M, Niyigabae P, Normand E, Ntare N, Ormsby LJ, Piel A, Pruetz J, Rundus A, Sanz C, Sommer V, Stewart F, Tagg N, Vanleeuwe H, Vergnes V, Willie J, Wittig RM, Zuberbuehler K, Boesch C. Kühl HS, et al. Among authors: normand e. Sci Rep. 2016 Feb 29;6:22219. doi: 10.1038/srep22219. Sci Rep. 2016. PMID: 26923684 Free PMC article.
103 results