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Items: 1 to 20 of 11454

1.

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.

Nixon KCJ, Rousseau J, Stone MH, Sarikahya M, Ehresmann S, Mizuno S, Matsumoto N, Miyake N; DDD Study, Baralle D, McKee S, Izumi K, Ritter AL, Heide S, Héron D, Depienne C, Titheradge H, Kramer JM, Campeau PM.

Am J Hum Genet. 2019 Mar 12. pii: S0002-9297(19)30046-1. doi: 10.1016/j.ajhg.2019.02.001. [Epub ahead of print]

PMID:
30879640
2.

Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human Primates.

Zhu X, Yin L, Theisen M, Zhuo J, Siddiqui S, Levy B, Presnyak V, Frassetto A, Milton J, Salerno T, Benenato KE, Milano J, Lynn A, Sabnis S, Burke K, Besin G, Lukacs CM, Guey LT, Finn PF, Martini PGV.

Am J Hum Genet. 2019 Feb 28. pii: S0002-9297(19)30048-5. doi: 10.1016/j.ajhg.2019.02.003. [Epub ahead of print]

PMID:
30879639
3.

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

Hiatt SM, Thompson ML, Prokop JW, Lawlor JMJ, Gray DE, Bebin EM, Rinne T, Kempers M, Pfundt R, van Bon BW, Mignot C, Nava C, Depienne C, Kalsner L, Rauch A, Joset P, Bachmann-Gagescu R, Wentzensen IM, McWalter K, Cooper GM.

Am J Hum Genet. 2019 Mar 6. pii: S0002-9297(19)30047-3. doi: 10.1016/j.ajhg.2019.02.002. [Epub ahead of print]

PMID:
30879638
4.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC.

Am J Hum Genet. 2019 Mar 7;104(3):562. doi: 10.1016/j.ajhg.2019.02.015. No abstract available.

PMID:
30849329
5.

ACAT: A Fast and Powerful p Value Combination Method for Rare-Variant Analysis in Sequencing Studies.

Liu Y, Chen S, Li Z, Morrison AC, Boerwinkle E, Lin X.

Am J Hum Genet. 2019 Mar 7;104(3):410-421. doi: 10.1016/j.ajhg.2019.01.002.

PMID:
30849328
6.

A Global Collaborative to Advance Genomic Medicine.

Ginsburg GS.

Am J Hum Genet. 2019 Mar 7;104(3):407-409. doi: 10.1016/j.ajhg.2019.02.010. No abstract available.

PMID:
30849327
7.

2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements.

Lupski JR.

Am J Hum Genet. 2019 Mar 7;104(3):391-406. doi: 10.1016/j.ajhg.2018.12.018. No abstract available.

PMID:
30849326
8.

2018 Victor A. McKusick Leadership Award Introduction: James R. Lupski.

Valle D.

Am J Hum Genet. 2019 Mar 7;104(3):389-390. doi: 10.1016/j.ajhg.2019.02.004. No abstract available.

PMID:
30849325
9.

2018 Curt Stern Award Address.

Kathiresan S.

Am J Hum Genet. 2019 Mar 7;104(3):384-388. doi: 10.1016/j.ajhg.2019.02.011.

PMID:
30849324
10.

2018 William Allan Award: Discovering the Genes for Common Disease: From Families to Populations.

Lander ES.

Am J Hum Genet. 2019 Mar 7;104(3):375-383. doi: 10.1016/j.ajhg.2019.01.016. No abstract available.

PMID:
30849323
11.

2018 William Allan Award Introduction: Eric S. Lander.

Daly MJ.

Am J Hum Genet. 2019 Mar 7;104(3):373-374. doi: 10.1016/j.ajhg.2019.02.005. No abstract available.

PMID:
30849322
12.

2018 Presidential Address: Who Are We?

Nelson DL.

Am J Hum Genet. 2019 Mar 7;104(3):363-372. doi: 10.1016/j.ajhg.2019.01.005. No abstract available.

PMID:
30849321
13.

2018 ASHG Awards and Addresses.

[No authors listed]

Am J Hum Genet. 2019 Mar 7;104(3):361-362. doi: 10.1016/j.ajhg.2019.02.019.

PMID:
30849320
14.

Discovery of Allele-Specific Protein-RNA Interactions in Human Transcriptomes.

Bahrami-Samani E, Xing Y.

Am J Hum Genet. 2019 Mar 7;104(3):492-502. doi: 10.1016/j.ajhg.2019.01.018. Epub 2019 Feb 28.

15.

GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish.

Unlu G, Gamazon ER, Qi X, Levic DS, Bastarache L, Denny JC, Roden DM, Mayzus I, Breyer M, Zhong X, Konkashbaev AI, Rzhetsky A, Knapik EW, Cox NJ.

Am J Hum Genet. 2019 Mar 7;104(3):503-519. doi: 10.1016/j.ajhg.2019.01.017. Epub 2019 Feb 28.

PMID:
30827500
16.

Recent Adaptive Acquisition by African Rainforest Hunter-Gatherers of the Late Pleistocene Sickle-Cell Mutation Suggests Past Differences in Malaria Exposure.

Laval G, Peyrégne S, Zidane N, Harmant C, Renaud F, Patin E, Prugnolle F, Quintana-Murci L.

Am J Hum Genet. 2019 Mar 7;104(3):553-561. doi: 10.1016/j.ajhg.2019.02.007. Epub 2019 Feb 28.

PMID:
30827499
17.

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.

Palmer EE, Hong S, Al Zahrani F, Hashem MO, Aleisa FA, Ahmed HMJ, Kandula T, Macintosh R, Minoche AE, Puttick C, Gayevskiy V, Drew AP, Cowley MJ, Dinger M, Rosenfeld JA, Xiao R, Cho MT, Yakubu SF, Henderson LB, Guillen Sacoto MJ, Begtrup A, Hamad M, Shinawi M, Andrews MV, Jones MC, Lindstrom K, Bristol RE, Kayani S, Snyder M, Villanueva MM, Schteinschnaider A, Faivre L, Thauvin C, Vitobello A, Roscioli T, Kirk EP, Bye A, Merzaban J, Jaremko Ł, Jaremko M, Sachdev RK, Alkuraya FS, Arold ST.

Am J Hum Genet. 2019 Mar 7;104(3):542-552. doi: 10.1016/j.ajhg.2019.01.013. Epub 2019 Feb 28.

PMID:
30827498
18.

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.

Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, Cohn RD, Brudno M, Dowling JJ.

Am J Hum Genet. 2019 Mar 7;104(3):466-483. doi: 10.1016/j.ajhg.2019.01.012. Epub 2019 Feb 28.

19.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM.

Am J Hum Genet. 2019 Mar 7;104(3):530-541. doi: 10.1016/j.ajhg.2019.01.010. Epub 2019 Feb 28.

PMID:
30827496
20.

Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.

Kuo ME, Theil AF, Kievit A, Malicdan MC, Introne WJ, Christian T, Verheijen FW, Smith DEC, Mendes MI, Hussaarts-Odijk L, van der Meijden E, van Slegtenhorst M, Wilke M, Vermeulen W, Raams A, Groden C, Shimada S, Meyer-Schuman R, Hou YM, Gahl WA, Antonellis A, Salomons GS, Mancini GMS.

Am J Hum Genet. 2019 Mar 7;104(3):520-529. doi: 10.1016/j.ajhg.2019.01.006. Epub 2019 Feb 26.

PMID:
30824121

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