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Items: 1 to 50 of 659

1.

Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis.

Vossaert L, Wang Q, Salman R, McCombs AK, Patel V, Qu C, Mancini MA, Edwards DP, Malovannaya A, Liu P, Shaw CA, Levy B, Wapner RJ, Bi W, Breman AM, Van den Veyver IB, Beaudet AL.

Am J Hum Genet. 2019 Dec 5;105(6):1262-1273. doi: 10.1016/j.ajhg.2019.11.004. Epub 2019 Nov 27.

2.

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.

Assia Batzir N, Kishor Bhagwat P, Larson A, Coban Akdemir Z, Bagłaj M, Bofferding L, Bosanko KB, Bouassida S, Callewaert B, Cannon A, Enchautegui Colon Y, Garnica AD, Harr MH, Heck S, Hurst ACE, Jhangiani SN, Isidor B, Littlejohn RO, Liu P, Magoulas P, Mar Fan H, Marom R, McLean S, Nezarati MM, Nugent KM, Petersen MB, Rocha ML, Roeder E, Smigiel R, Tully I, Weisfeld-Adams J, Wells KO; Baylor-Hopkins Center for Mendelian Genomics, Posey JE, Lupski JR, Beaudet AL, Wangler MF.

Hum Mutat. 2019 Nov 26. doi: 10.1002/humu.23960. [Epub ahead of print]

PMID:
31769566
3.

Evolution of the modern human brain.

Beaudet A, Du A, Wood B.

Prog Brain Res. 2019;250:219-250. doi: 10.1016/bs.pbr.2019.01.004. Epub 2019 Mar 5.

PMID:
31703902
4.

A multiscale stratigraphic investigation of the context of StW 573 'Little Foot' and Member 2, Sterkfontein Caves, South Africa.

Bruxelles L, Stratford DJ, Maire R, Pickering TR, Heaton JL, Beaudet A, Kuman K, Crompton R, Carlson KJ, Jashashvili T, McClymont J, Leader GM, Clarke RJ.

J Hum Evol. 2019 Aug;133:78-98. doi: 10.1016/j.jhevol.2019.05.008. Epub 2019 Jun 26.

PMID:
31358185
5.

The long limb bones of the StW 573 Australopithecus skeleton from Sterkfontein Member 2: Descriptions and proportions.

Heaton JL, Pickering TR, Carlson KJ, Crompton RH, Jashashvili T, Beaudet A, Bruxelles L, Kuman K, Heile AJ, Stratford D, Clarke RJ.

J Hum Evol. 2019 Aug;133:167-197. doi: 10.1016/j.jhevol.2019.05.015. Epub 2019 Jul 4.

PMID:
31358179
6.

The inner ear of the Paranthropus specimen DNH 22 from Drimolen, South Africa.

Beaudet A.

Am J Phys Anthropol. 2019 Nov;170(3):439-446. doi: 10.1002/ajpa.23901. Epub 2019 Jul 10.

PMID:
31290572
7.

Parietal lobe variation in cercopithecid endocasts.

Pereira-Pedro AS, Beaudet A, Bruner E.

Am J Primatol. 2019 Jul;81(7):e23025. doi: 10.1002/ajp.23025. Epub 2019 Jun 26.

PMID:
31241198
8.

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.

N Engl J Med. 2019 Jun 20;380(25):2478-2480. doi: 10.1056/NEJMc1812033. No abstract available.

PMID:
31216405
9.

Sulcal pattern variation in extant human endocasts.

de Jager EJ, van Schoor AN, Hoffman JW, Oettlé AC, Fonta C, Mescam M, Risser L, Beaudet A.

J Anat. 2019 Oct;235(4):803-810. doi: 10.1111/joa.13030. Epub 2019 Jun 17.

PMID:
31206664
10.

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.

Dharmadhikari AV, Ghosh R, Yuan B, Liu P, Dai H, Al Masri S, Scull J, Posey JE, Jiang AH, He W, Vetrini F, Braxton AA, Ward P, Chiang T, Qu C, Gu S, Shaw CA, Smith JL, Lalani S, Stankiewicz P, Cheung SW, Bacino CA, Patel A, Breman AM, Wang X, Meng L, Xiao R, Xia F, Muzny D, Gibbs RA, Beaudet AL, Eng CM, Lupski JR, Yang Y, Bi W.

Genome Med. 2019 May 17;11(1):30. doi: 10.1186/s13073-019-0639-5.

11.

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.

Aref-Eshghi E, Bend EG, Colaiacovo S, Caudle M, Chakrabarti R, Napier M, Brick L, Brady L, Carere DA, Levy MA, Kerkhof J, Stuart A, Saleh M, Beaudet AL, Li C, Kozenko M, Karp N, Prasad C, Siu VM, Tarnopolsky MA, Ainsworth PJ, Lin H, Rodenhiser DI, Krantz ID, Deardorff MA, Schwartz CE, Sadikovic B.

Am J Hum Genet. 2019 Apr 4;104(4):685-700. doi: 10.1016/j.ajhg.2019.03.008. Epub 2019 Mar 28.

12.

Erratum: Author Correction: Identification of genes required for eye development by high-throughput screening of mouse knockouts.

Moore BA, Leonard BC, Sebbag L, Edwards SG, Cooper A, Imai DM, Straiton E, Santos L, Reilly C, Griffey SM, Bower L, Clary D, Mason J, Roux MJ, Meziane H, Herault Y; International Mouse Phenotyping Consortium, McKerlie C, Flenniken AM, Nutter LMJ, Berberovic Z, Owen C, Newbigging S, Adissu H, Eskandarian M, Hsu CW, Kalaga S, Udensi U, Asomugha C, Bohat R, Gallegos JJ, Seavitt JR, Heaney JD, Beaudet AL, Dickinson ME, Justice MJ, Philip V, Kumar V, Svenson KL, Braun RE, Wells S, Cater H, Stewart M, Clementson-Mobbs S, Joynson R, Gao X, Suzuki T, Wakana S, Smedley D, Seong JK, Tocchini-Valentini G, Moore M, Fletcher C, Karp N, Ramirez-Solis R, White JK, de Angelis MH, Wurst W, Thomasy SM, Flicek P, Parkinson H, Brown SDM, Meehan TF, Nishina PM, Murray SA, Krebs MP, Mallon AM, Kent Lloyd KC, Murphy CJ, Moshiri A.

Commun Biol. 2019 Mar 7;2:97. doi: 10.1038/s42003-019-0349-y. eCollection 2019.

13.

Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study.

Goin-Kochel RP, Scaglia F, Schaaf CP, Berry LN, Dang D, Nowel KP, Laakman AL, Dowell LR, Minard CG, Loh A, Beaudet AL.

Glob Pediatr Health. 2019 Feb 19;6:2333794X19830696. doi: 10.1177/2333794X19830696. eCollection 2019. No abstract available.

14.

Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.

Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM.

Nat Med. 2019 Apr;25(4):701-702. doi: 10.1038/s41591-019-0391-9.

PMID:
30787481
15.

The bony labyrinth of StW 573 ("Little Foot"): Implications for early hominin evolution and paleobiology.

Beaudet A, Clarke RJ, Bruxelles L, Carlson KJ, Crompton R, de Beer F, Dhaene J, Heaton JL, Jakata K, Jashashvili T, Kuman K, McClymont J, Pickering TR, Stratford D.

J Hum Evol. 2019 Feb;127:67-80. doi: 10.1016/j.jhevol.2018.12.002. Epub 2018 Dec 22.

PMID:
30777359
16.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B.

Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14.

17.

Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.

Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM.

Nat Med. 2019 Mar;25(3):439-447. doi: 10.1038/s41591-018-0334-x. Epub 2019 Jan 28. Erratum in: Nat Med. 2019 Feb 20;:.

PMID:
30692697
18.

Identification of genes required for eye development by high-throughput screening of mouse knockouts.

Moore BA, Leonard BC, Sebbag L, Edwards SG, Cooper A, Imai DM, Straiton E, Santos L, Reilly C, Griffey SM, Bower L, Clary D, Mason J, Roux MJ, Meziane H, Herault Y; International Mouse Phenotyping Consortium, McKerlie C, Flenniken AM, Nutter LMJ, Berberovic Z, Owen C, Newbigging S, Adissu H, Eskandarian M, Hsu CW, Kalaga S, Udensi U, Asomugha C, Bohat R, Gallegos JJ, Seavitt JR, Heaney JD, Beaudet AL, Dickinson ME, Justice MJ, Philip V, Kumar V, Svenson KL, Braun RE, Wells S, Cater H, Stewart M, Clementson-Mobbs S, Joynson R, Gao X, Suzuki T, Wakana S, Smedley D, Seong JK, Tocchini-Valentini G, Moore M, Fletcher C, Karp N, Ramirez-Solis R, White JK, de Angelis MH, Wurst W, Thomasy SM, Flicek P, Parkinson H, Brown SDM, Meehan TF, Nishina PM, Murray SA, Krebs MP, Mallon AM, Lloyd KCK, Murphy CJ, Moshiri A.

Commun Biol. 2018 Dec 21;1:236. doi: 10.1038/s42003-018-0226-0. eCollection 2018. Erratum in: Commun Biol. 2019 Mar 7;2:97.

19.

The endocast of StW 573 ("Little Foot") and hominin brain evolution.

Beaudet A, Clarke RJ, de Jager EJ, Bruxelles L, Carlson KJ, Crompton R, de Beer F, Dhaene J, Heaton JL, Jakata K, Jashashvili T, Kuman K, McClymont J, Pickering TR, Stratford D.

J Hum Evol. 2019 Jan;126:112-123. doi: 10.1016/j.jhevol.2018.11.009. Epub 2018 Dec 15.

PMID:
30583840
20.

Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1-2 (BP1-BP2) in a large cohort of samples referred for genetic diagnosis.

Mohan KN, Cao Y, Pham J, Cheung SW, Hoffner L, Ou ZZ, Surti U, Cook EH, Beaudet AL.

J Hum Genet. 2019 Mar;64(3):253-255. doi: 10.1038/s10038-018-0543-7. Epub 2018 Dec 12.

PMID:
30542208
21.
22.

Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing.

Vossaert L, Wang Q, Salman R, Zhuo X, Qu C, Henke D, Seubert R, Chow J, U'ren L, Enright B, Stilwell J, Kaldjian E, Yang Y, Shaw C, Levy B, Wapner R, Breman A, Van den Veyver I, Beaudet A.

Prenat Diagn. 2018 Dec;38(13):1069-1078. doi: 10.1002/pd.5377. Epub 2018 Nov 19.

23.

Rapid and Integrative Discovery of Retina Regulatory Molecules.

Albrecht NE, Alevy J, Jiang D, Burger CA, Liu BI, Li F, Wang J, Kim SY, Hsu CW, Kalaga S, Udensi U, Asomugha C, Bohat R, Gaspero A, Justice MJ, Westenskow PD, Yamamoto S, Seavitt JR, Beaudet AL, Dickinson ME, Samuel MA.

Cell Rep. 2018 Aug 28;24(9):2506-2519. doi: 10.1016/j.celrep.2018.07.090.

24.

Elicitation of health state utilities associated with the mode of administration of drugs acting on the prostacyclin pathway in pulmonary arterial hypertension.

Davies EW, Llewellyn S, Beaudet A, Kosmas CE, Gin-Sing W, Doll HA.

Patient Prefer Adherence. 2018 Jun 21;12:1079-1088. doi: 10.2147/PPA.S160662. eCollection 2018.

25.

Comparative analysis of single-stranded DNA donors to generate conditional null mouse alleles.

Lanza DG, Gaspero A, Lorenzo I, Liao L, Zheng P, Wang Y, Deng Y, Cheng C, Zhang C, Seavitt JR, DeMayo FJ, Xu J, Dickinson ME, Beaudet AL, Heaney JD.

BMC Biol. 2018 Jun 21;16(1):69. doi: 10.1186/s12915-018-0529-0.

26.

Cranial vault thickness variation and inner structural organization in the StW 578 hominin cranium from Jacovec Cavern, South Africa.

Beaudet A, Carlson KJ, Clarke RJ, de Beer F, Dhaene J, Heaton JL, Pickering TR, Stratford D.

J Hum Evol. 2018 Aug;121:204-220. doi: 10.1016/j.jhevol.2018.04.004. Epub 2018 May 21.

PMID:
29793791
27.

Implementation Research to Address the United States Health Disadvantage: Report of a National Heart, Lung, and Blood Institute Workshop.

Engelgau MM, Narayan KMV, Ezzati M, Salicrup LA, Belis D, Aron LY, Beaglehole R, Beaudet A, Briss PA, Chambers DA, Devaux M, Fiscella K, Gottlieb M, Hakkinen U, Henderson R, Hennis AJ, Hochman JS, Jan S, Koroshetz WJ, Mackenbach JP, Marmot MG, Martikainen P, McClellan M, Meyers D, Parsons PE, Rehnberg C, Sanghavi D, Sidney S, Siega-Riz AM, Straus S, Woolf SH, Constant S, Creazzo TL, de Jesus JM, Gavini N, Lerner NB, Mishoe HO, Nelson C, Peprah E, Punturieri A, Sampson U, Tracy RL, Mensah GA.

Glob Heart. 2018 Jun;13(2):65-72. doi: 10.1016/j.gheart.2018.03.003. Epub 2018 Apr 30. Review.

28.

2017 Victor A. McKusick Leadership Award.

Beaudet AL.

Am J Hum Genet. 2018 Mar 1;102(3):361-363. doi: 10.1016/j.ajhg.2018.01.011. No abstract available.

29.

Retraction notice to: The revised stratigraphy of the hominin-bearing site of Kromdraai (Gauteng, South Africa) and associated perspectives [J. Human Evol. 114 (2018) 1-19].

Bruxelles L, Maire R, Beaudet A, Couzens R, Duranthon F, Fourvel JB, Stratford D, Thackeray F, Braga J.

J Hum Evol. 2018 Jan;114:R1. doi: 10.1016/j.jhevol.2018.02.001. No abstract available.

PMID:
29447764
30.

RETRACTED: The revised stratigraphy of the hominin-bearing site of Kromdraai (Gauteng, South Africa) and associated perspectives.

Bruxelles L, Maire R, Beaudet A, Couzens R, Duranthon F, Fourvel JB, Stratford D, Thackeray F, Braga J.

J Hum Evol. 2018 Jan;114:1-19. doi: 10.1016/j.jhevol.2017.09.005. Epub 2017 Oct 17. Retraction in: J Hum Evol. 2018 Jan;114:R1.

PMID:
29447752
31.

Identification of genetic elements in metabolism by high-throughput mouse phenotyping.

Rozman J, Rathkolb B, Oestereicher MA, Schütt C, Ravindranath AC, Leuchtenberger S, Sharma S, Kistler M, Willershäuser M, Brommage R, Meehan TF, Mason J, Haselimashhadi H; IMPC Consortium, Hough T, Mallon AM, Wells S, Santos L, Lelliott CJ, White JK, Sorg T, Champy MF, Bower LR, Reynolds CL, Flenniken AM, Murray SA, Nutter LMJ, Svenson KL, West D, Tocchini-Valentini GP, Beaudet AL, Bosch F, Braun RB, Dobbie MS, Gao X, Herault Y, Moshiri A, Moore BA, Kent Lloyd KC, McKerlie C, Masuya H, Tanaka N, Flicek P, Parkinson HE, Sedlacek R, Seong JK, Wang CL, Moore M, Brown SD, Tschöp MH, Wurst W, Klingenspor M, Wolf E, Beckers J, Machicao F, Peter A, Staiger H, Häring HU, Grallert H, Campillos M, Maier H, Fuchs H, Gailus-Durner V, Werner T, Hrabe de Angelis M.

Nat Commun. 2018 Jan 18;9(1):288. doi: 10.1038/s41467-017-01995-2.

32.

The endocranial shape of Australopithecus africanus: surface analysis of the endocasts of Sts 5 and Sts 60.

Beaudet A, Dumoncel J, de Beer F, Durrleman S, Gilissen E, Oettlé A, Subsol G, Thackeray JF, Braga J.

J Anat. 2018 Feb;232(2):296-303. doi: 10.1111/joa.12745. Epub 2017 Nov 16.

PMID:
29148040
33.

Corrigendum: High-throughput discovery of novel developmental phenotypes.

Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, White JK, Meehan TF, Weninger WJ, Westerberg H, Adissu H, Baker CN, Bower L, Brown JM, Caddle LB, Chiani F, Clary D, Cleak J, Daly MJ, Denegre JM, Doe B, Dolan ME, Edie Helmut Fuchs SM, Gailus-Durner V, Galli A, Gambadoro A, Gallegos J, Guo S, Horner NR, Hsu CW, Johnson SJ, Kalaga S, Keith LC, Lanoue L, Lawson TN, Lek M, Mark M, Marschall S, Mason J, McElwee ML, Nutter SNLMJ, Peterson KA, Ramirez-Solis R, Rowland DJ, Ryder E, Samocha KE, Seavitt JR, Selloum M, Szoke-Kovacs Z, Tamura M, Trainor AG, Tudose I, Wakana S, Warren J, Wendling O, West DB, Wong L, Yoshiki A; International Mouse Phenotyping Consortium, Wurst W, MacArthur DG, Tocchini-Valentini GP, Gao X, Flicek P, Bradley A, Skarnes WC, Justice MJ, Parkinson HE, Moore M, Wells S, Braun RE, Svenson KL, de Angelis MH, Herault Y, Mohun T, Mallon AM, Henkelman RM, Brown SDM, Adams DJ, Lloyd KCK, McKerlie C, Beaudet AL, Murray MBSA.

Nature. 2017 Nov 16;551(7680):398. doi: 10.1038/nature24643. Epub 2017 Nov 8.

34.

A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.

Bowl MR, Simon MM, Ingham NJ, Greenaway S, Santos L, Cater H, Taylor S, Mason J, Kurbatova N, Pearson S, Bower LR, Clary DA, Meziane H, Reilly P, Minowa O, Kelsey L; International Mouse Phenotyping Consortium, Tocchini-Valentini GP, Gao X, Bradley A, Skarnes WC, Moore M, Beaudet AL, Justice MJ, Seavitt J, Dickinson ME, Wurst W, de Angelis MH, Herault Y, Wakana S, Nutter LMJ, Flenniken AM, McKerlie C, Murray SA, Svenson KL, Braun RE, West DB, Lloyd KCK, Adams DJ, White J, Karp N, Flicek P, Smedley D, Meehan TF, Parkinson HE, Teboul LM, Wells S, Steel KP, Mallon AM, Brown SDM.

Nat Commun. 2017 Oct 12;8(1):886. doi: 10.1038/s41467-017-00595-4.

35.

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR.

JAMA Pediatr. 2017 Dec 4;171(12):e173438. doi: 10.1001/jamapediatrics.2017.3438. Epub 2017 Dec 4.

36.

Identification of novel candidate disease genes from de novo exonic copy number variants.

Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA, Coban-Akdemir Z, Pursley AN, Nagamani SCS, Marom R, Golla S, Dengle L, Petrie HG, Matalon R, Emrick L, Proud MB, Treadwell-Deering D, Chao HT, Koillinen H, Brown C, Urraca N, Mostafavi R, Bernes S, Roeder ER, Nugent KM, Bader PI, Bellus G, Cummings M, Northrup H, Ashfaq M, Westman R, Wildin R, Beck AE, Immken L, Elton L, Varghese S, Buchanan E, Faivre L, Lefebvre M, Schaaf CP, Walkiewicz M, Yang Y, Kang SL, Lalani SR, Bacino CA, Beaudet AL, Breman AM, Smith JL, Cheung SW, Lupski JR, Patel A, Shaw CA, Stankiewicz P.

Genome Med. 2017 Sep 21;9(1):83. doi: 10.1186/s13073-017-0472-7.

37.

The Emergence of Language in the Hominin Lineage: Perspectives from Fossil Endocasts.

Beaudet A.

Front Hum Neurosci. 2017 Aug 23;11:427. doi: 10.3389/fnhum.2017.00427. eCollection 2017. No abstract available.

38.

Brain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis.

Beaudet AL.

Bioessays. 2017 Aug;39(8). doi: 10.1002/bies.201700012. Epub 2017 Jul 13. Review.

39.

Prevalence of sexual dimorphism in mammalian phenotypic traits.

Karp NA, Mason J, Beaudet AL, Benjamini Y, Bower L, Braun RE, Brown SDM, Chesler EJ, Dickinson ME, Flenniken AM, Fuchs H, Angelis MH, Gao X, Guo S, Greenaway S, Heller R, Herault Y, Justice MJ, Kurbatova N, Lelliott CJ, Lloyd KCK, Mallon AM, Mank JE, Masuya H, McKerlie C, Meehan TF, Mott RF, Murray SA, Parkinson H, Ramirez-Solis R, Santos L, Seavitt JR, Smedley D, Sorg T, Speak AO, Steel KP, Svenson KL; International Mouse Phenotyping Consortium, Wakana S, West D, Wells S, Westerberg H, Yaacoby S, White JK.

Nat Commun. 2017 Jun 26;8:15475. doi: 10.1038/ncomms15475.

40.

Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium.

Meehan TF, Conte N, West DB, Jacobsen JO, Mason J, Warren J, Chen CK, Tudose I, Relac M, Matthews P, Karp N, Santos L, Fiegel T, Ring N, Westerberg H, Greenaway S, Sneddon D, Morgan H, Codner GF, Stewart ME, Brown J, Horner N; International Mouse Phenotyping Consortium, Haendel M, Washington N, Mungall CJ, Reynolds CL, Gallegos J, Gailus-Durner V, Sorg T, Pavlovic G, Bower LR, Moore M, Morse I, Gao X, Tocchini-Valentini GP, Obata Y, Cho SY, Seong JK, Seavitt J, Beaudet AL, Dickinson ME, Herault Y, Wurst W, de Angelis MH, Lloyd KCK, Flenniken AM, Nutter LMJ, Newbigging S, McKerlie C, Justice MJ, Murray SA, Svenson KL, Braun RE, White JK, Bradley A, Flicek P, Wells S, Skarnes WC, Adams DJ, Parkinson H, Mallon AM, Brown SDM, Smedley D.

Nat Genet. 2017 Aug;49(8):1231-1238. doi: 10.1038/ng.3901. Epub 2017 Jun 26.

41.

Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

Halim D, Brosens E, Muller F, Wangler MF, Beaudet AL, Lupski JR, Akdemir ZHC, Doukas M, Stoop HJ, de Graaf BM, Brouwer RWW, van Ijcken WFJ, Oury JF, Rosenblatt J, Burns AJ, Tibboel D, Hofstra RMW, Alves MM.

Am J Hum Genet. 2017 Jul 6;101(1):123-129. doi: 10.1016/j.ajhg.2017.05.011. Epub 2017 Jun 8.

42.

Lessons learned from additional research analyses of unsolved clinical exome cases.

Eldomery MK, Coban-Akdemir Z, Harel T, Rosenfeld JA, Gambin T, Stray-Pedersen A, Küry S, Mercier S, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani SR, Schaaf CP, Wangler MF, Bacino CA, Lewis RA, Potocki L, Graham BH, Belmont JW, Scaglia F, Orange JS, Jhangiani SN, Chiang T, Doddapaneni H, Hu J, Muzny DM, Xia F, Beaudet AL, Boerwinkle E, Eng CM, Plon SE, Sutton VR, Gibbs RA, Posey JE, Yang Y, Lupski JR.

Genome Med. 2017 Mar 21;9(1):26. doi: 10.1186/s13073-017-0412-6.

43.

2016 Curt Stern Award Introduction: Brendan Lee.

Beaudet AL.

Am J Hum Genet. 2017 Mar 2;100(3):395-396. doi: 10.1016/j.ajhg.2017.01.007. No abstract available.

44.

Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.

Gillentine MA, Berry LN, Goin-Kochel RP, Ali MA, Ge J, Guffey D, Rosenfeld JA, Hannig V, Bader P, Proud M, Shinawi M, Graham BH, Lin A, Lalani SR, Reynolds J, Chen M, Grebe T, Minard CG, Stankiewicz P, Beaudet AL, Schaaf CP.

J Autism Dev Disord. 2017 Mar;47(3):563. doi: 10.1007/s10803-017-3047-y. No abstract available.

PMID:
28168676
45.

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