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Items: 44

1.

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Rivière JB, Zaki MS; University of Washington Center for Mendelian Genomics, Gleeson JG, Rump A, Conti V, Parrini E, Ross ME, Ledbetter DH, Guerrini R, Dobyns WB.

Genet Med. 2018 Apr 19. doi: 10.1038/gim.2018.8. [Epub ahead of print]

2.

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, Khan AO; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Neuhauss SCF, Dobyns WB, Alkuraya FS, Roepman R, Bachmann-Gagescu R, Doherty D.

Am J Hum Genet. 2017 Jul 6;101(1):23-36. doi: 10.1016/j.ajhg.2017.05.010. Epub 2017 Jun 15.

3.

Correction: Pleiotropic Mechanisms Indicated for Sex Differences in Autism.

Mitra I, Tsang K, Ladd-Acosta C, Croen LA, Aldinger KA, Hendren RL, Traglia M, Lavillaureix A, Zaitlen N, Oldham MC, Levitt P, Nelson S, Amaral DG, Hertz-Picciotto I, Fallin MD, Weiss LA.

PLoS Genet. 2017 Jun 7;13(6):e1006831. doi: 10.1371/journal.pgen.1006831. eCollection 2017 Jun.

4.

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.

Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, Çağlayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG.

Nat Genet. 2017 Mar;49(3):457-464. doi: 10.1038/ng.3762. Epub 2017 Jan 16.

5.

Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms.

Haldipur P, Dang D, Aldinger KA, Janson OK, Guimiot F, Adle-Biasette H, Dobyns WB, Siebert JR, Russo R, Millen KJ.

Elife. 2017 Jan 16;6. pii: e20898. doi: 10.7554/eLife.20898.

6.

Pleiotropic Mechanisms Indicated for Sex Differences in Autism.

Mitra I, Tsang K, Ladd-Acosta C, Croen LA, Aldinger KA, Hendren RL, Traglia M, Lavillaureix A, Zaitlen N, Oldham MC, Levitt P, Nelson S, Amaral DG, Hertz-Picciotto I, Fallin MD, Weiss LA.

PLoS Genet. 2016 Nov 15;12(11):e1006425. doi: 10.1371/journal.pgen.1006425. eCollection 2016 Nov. Erratum in: PLoS Genet. 2017 Jun 7;13(6):e1006831.

7.

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.

Di Donato N, Jean YY, Maga AM, Krewson BD, Shupp AB, Avrutsky MI, Roy A, Collins S, Olds C, Willert RA, Czaja AM, Johnson R, Stover JA, Gottlieb S, Bartholdi D, Rauch A, Goldstein A, Boyd-Kyle V, Aldinger KA, Mirzaa GM, Nissen A, Brigatti KW, Puffenberger EG, Millen KJ, Strauss KA, Dobyns WB, Troy CM, Jinks RN.

Am J Hum Genet. 2016 Nov 3;99(5):1117-1129. doi: 10.1016/j.ajhg.2016.09.010. Epub 2016 Oct 20.

8.

A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.

Gripp KW, Aldinger KA, Bennett JT, Baker L, Tusi J, Powell-Hamilton N, Stabley D, Sol-Church K, Timms AE, Dobyns WB.

Am J Med Genet A. 2016 Sep;170(9):2237-47. doi: 10.1002/ajmg.a.37781. Epub 2016 Jun 5.

9.

The genetics of cerebellar malformations.

Aldinger KA, Doherty D.

Semin Fetal Neonatal Med. 2016 Oct;21(5):321-32. doi: 10.1016/j.siny.2016.04.008. Epub 2016 May 7. Review.

10.

Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.

Aldinger KA, Mendelsohn NJ, Chung BH, Zhang W, Cohn DH, Fernandez B, Alkuraya FS, Dobyns WB, Curry CJ.

J Med Genet. 2016 Jun;53(6):427-30. doi: 10.1136/jmedgenet-2015-103476. Epub 2015 Dec 15. No abstract available.

11.

Patterns of Risk for Multiple Co-Occurring Medical Conditions Replicate Across Distinct Cohorts of Children with Autism Spectrum Disorder.

Aldinger KA, Lane CJ, Veenstra-VanderWeele J, Levitt P.

Autism Res. 2015 Dec;8(6):771-81. doi: 10.1002/aur.1492. Epub 2015 May 24.

12.

The Spontaneous Ataxic Mouse Mutant Tippy is Characterized by a Novel Purkinje Cell Morphogenesis and Degeneration Phenotype.

Shih EK, Sekerková G, Ohtsuki G, Aldinger KA, Chizhikov VV, Hansel C, Mugnaini E, Millen KJ.

Cerebellum. 2015 Jun;14(3):292-307. doi: 10.1007/s12311-014-0640-x.

13.

Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.

Aldinger KA, Mosca SJ, Tétreault M, Dempsey JC, Ishak GE, Hartley T, Phelps IG, Lamont RE, O'Day DR, Basel D, Gripp KW, Baker L, Stephan MJ, Bernier FP, Boycott KM, Majewski J; University of Washington Center for Mendelian Genomics; Care4Rare Canada, Parboosingh JS, Innes AM, Doherty D.

Am J Hum Genet. 2014 Aug 7;95(2):227-34. doi: 10.1016/j.ajhg.2014.07.007. Erratum in: Am J Hum Genet. 2014 Oct 2;95(4):472.

14.

Amyoplasia revisited.

Hall JG, Aldinger KA, Tanaka KI.

Am J Med Genet A. 2014 Mar;164A(3):700-30. doi: 10.1002/ajmg.a.36395. Epub 2014 Jan 23. Review.

PMID:
24459070
15.

Transcriptional regulation of the MET receptor tyrosine kinase gene by MeCP2 and sex-specific expression in autism and Rett syndrome.

Plummer JT, Evgrafov OV, Bergman MY, Friez M, Haiman CA, Levitt P, Aldinger KA.

Transl Psychiatry. 2013 Oct 22;3:e316. doi: 10.1038/tp.2013.91.

16.

Comparative DNA methylation among females with neurodevelopmental disorders and seizures identifies TAC1 as a MeCP2 target gene.

Aldinger KA, Plummer JT, Levitt P.

J Neurodev Disord. 2013 Jun 11;5(1):15. doi: 10.1186/1866-1955-5-15.

17.

Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles.

Darbro BW, Mahajan VB, Gakhar L, Skeie JM, Campbell E, Wu S, Bing X, Millen KJ, Dobyns WB, Kessler JA, Jalali A, Cremer J, Segre A, Manak JR, Aldinger KA, Suzuki S, Natsume N, Ono M, Hai HD, Viet le T, Loddo S, Valente EM, Bernardini L, Ghonge N, Ferguson PJ, Bassuk AG.

Hum Mutat. 2013 Aug;34(8):1075-9. doi: 10.1002/humu.22351. Epub 2013 May 28.

18.

Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.

Aldinger KA, Kogan J, Kimonis V, Fernandez B, Horn D, Klopocki E, Chung B, Toutain A, Weksberg R, Millen KJ, Barkovich AJ, Dobyns WB.

Am J Med Genet A. 2013 Jan;161A(1):131-6. doi: 10.1002/ajmg.a.35700. Epub 2012 Dec 7.

19.

Modeling of autism genetic variations in mice: focusing on synaptic and microcircuit dysfunctions.

Qiu S, Aldinger KA, Levitt P.

Dev Neurosci. 2012;34(2-3):88-100. Epub 2012 May 8. Review.

PMID:
22572629
20.

Consensus paper: pathological role of the cerebellum in autism.

Fatemi SH, Aldinger KA, Ashwood P, Bauman ML, Blaha CD, Blatt GJ, Chauhan A, Chauhan V, Dager SR, Dickson PE, Estes AM, Goldowitz D, Heck DH, Kemper TL, King BH, Martin LA, Millen KJ, Mittleman G, Mosconi MW, Persico AM, Sweeney JA, Webb SJ, Welsh JP.

Cerebellum. 2012 Sep;11(3):777-807. doi: 10.1007/s12311-012-0355-9. Review.

21.

SnapShot: genetics of autism.

Aldinger KA, Plummer JT, Qiu S, Levitt P.

Neuron. 2011 Oct 20;72(2):418-8.e1. doi: 10.1016/j.neuron.2011.10.007. No abstract available.

22.

X-linked hereditary hemihypotrophy hemiparesis hemiathetosis.

Reese J Jr, Aldinger KA, Dobyns WB, Gripp KW.

Am J Med Genet A. 2010 Nov;152A(11):2727-30. doi: 10.1002/ajmg.a.33545.

PMID:
20949603
23.

Phenotypic and genetic analysis of the cerebellar mutant tmgc26, a new ENU-induced ROR-alpha allele.

Swanson DJ, Steshina EY, Wakenight P, Aldinger KA, Goldowitz D, Millen KJ, Chizhikov VV.

Eur J Neurosci. 2010 Sep;32(5):707-16. doi: 10.1111/j.1460-9568.2010.07330.x. Epub 2010 Aug 16.

24.

Lmx1a regulates fates and location of cells originating from the cerebellar rhombic lip and telencephalic cortical hem.

Chizhikov VV, Lindgren AG, Mishima Y, Roberts RW, Aldinger KA, Miesegaes GR, Currle DS, Monuki ES, Millen KJ.

Proc Natl Acad Sci U S A. 2010 Jun 8;107(23):10725-30. doi: 10.1073/pnas.0910786107. Epub 2010 May 24.

25.

New mouse genetic model duplicates human 15q11-13 autistic phenotypes, or does it?

Aldinger KA, Qiu S.

Dis Model Mech. 2010 Jan-Feb;3(1-2):3-4. doi: 10.1242/dmm.004663. No abstract available.

26.

Model organisms inform the search for the genes and developmental pathology underlying malformations of the human hindbrain.

Aldinger KA, Elsen GE, Prince VE, Millen KJ.

Semin Pediatr Neurol. 2009 Sep;16(3):155-63. doi: 10.1016/j.spen.2009.06.003. Review.

27.

Mutations in the tRNA splicing endonuclease complex cause pontocerebellar hypoplasia.

Bailey KA, Aldinger KA.

Clin Genet. 2009 May;75(5):427-8. doi: 10.1111/j.1399-0004.2009.01186_3.x. No abstract available.

PMID:
19459882
28.

Copy number variation at 1q21.1 results in a spectrum of developmental abnormalities.

Aldinger KA.

Clin Genet. 2009 May;75(5):425-7. doi: 10.1111/j.1399-0004.2009.01186_2.x. No abstract available.

PMID:
19459881
29.

An X-linked microcephaly syndrome caused by disruptions of CASK implicates the CASK-TBR1-RELN pathway in human brain development.

Bailey KA, Aldinger KA.

Clin Genet. 2009 May;75(5):424-5. doi: 10.1111/j.1399-0004.2009.01186_1.x. No abstract available.

PMID:
19459880
30.

Genomic survey of prepulse inhibition in mouse chromosome substitution strains.

Leussis MP, Frayne ML, Saito M, Berry EM, Aldinger KA, Rockwell GN, Hammer RP Jr, Baskin-Hill AE, Singer JB, Nadeau JH, Sklar P, Petryshen TL.

Genes Brain Behav. 2009 Nov;8(8):806-16. doi: 10.1111/j.1601-183X.2009.00526.x. Epub 2009 Jul 21.

31.

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.

Aldinger KA, Lehmann OJ, Hudgins L, Chizhikov VV, Bassuk AG, Ades LC, Krantz ID, Dobyns WB, Millen KJ.

Nat Genet. 2009 Sep;41(9):1037-42. doi: 10.1038/ng.422. Epub 2009 Aug 9.

32.

Genetic variation and population substructure in outbred CD-1 mice: implications for genome-wide association studies.

Aldinger KA, Sokoloff G, Rosenberg DM, Palmer AA, Millen KJ.

PLoS One. 2009;4(3):e4729. doi: 10.1371/journal.pone.0004729. Epub 2009 Mar 6.

33.

Population genetic study of the brain-derived neurotrophic factor (BDNF) gene.

Petryshen TL, Sabeti PC, Aldinger KA, Fry B, Fan JB, Schaffner SF, Waggoner SG, Tahl AR, Sklar P.

Mol Psychiatry. 2010 Aug;15(8):810-5. doi: 10.1038/mp.2009.24. Epub 2009 Mar 3.

34.

Association and mutation analyses of 16p11.2 autism candidate genes.

Kumar RA, Marshall CR, Badner JA, Babatz TD, Mukamel Z, Aldinger KA, Sudi J, Brune CW, Goh G, Karamohamed S, Sutcliffe JS, Cook EH, Geschwind DH, Dobyns WB, Scherer SW, Christian SL.

PLoS One. 2009;4(2):e4582. doi: 10.1371/journal.pone.0004582. Epub 2009 Feb 26.

35.

Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.

Rajab A, Aldinger KA, El-Shirbini HA, Dobyns WB, Ross ME.

Am J Med Genet A. 2009 Feb;149A(2):129-37. doi: 10.1002/ajmg.a.32630.

36.

Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.

Jalali A, Aldinger KA, Chary A, McLone DG, Bowman RM, Le LC, Jardine P, Newbury-Ecob R, Mallick A, Jafari N, Russell EJ, Curran J, Nguyen P, Ouahchi K, Lee C, Dobyns WB, Millen KJ, Pina-Neto JM, Kessler JA, Bassuk AG.

Hum Genet. 2008 Apr;123(3):237-45. doi: 10.1007/s00439-008-0467-y. Epub 2008 Jan 19.

37.

Ptf1a is a molecular determinant for both glutamatergic and GABAergic neurons in the hindbrain.

Aldinger KA, Elsen GE.

J Neurosci. 2008 Jan 9;28(2):338-9. doi: 10.1523/JNEUROSCI.5139-07.2008. No abstract available.

38.

Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia.

Petryshen TL, Middleton FA, Tahl AR, Rockwell GN, Purcell S, Aldinger KA, Kirby A, Morley CP, McGann L, Gentile KL, Waggoner SG, Medeiros HM, Carvalho C, Macedo A, Albus M, Maier W, Trixler M, Eichhammer P, Schwab SG, Wildenauer DB, Azevedo MH, Pato MT, Pato CN, Daly MJ, Sklar P.

Mol Psychiatry. 2005 Dec;10(12):1074-88, 1057.

PMID:
16172613
39.

Support for involvement of neuregulin 1 in schizophrenia pathophysiology.

Petryshen TL, Middleton FA, Kirby A, Aldinger KA, Purcell S, Tahl AR, Morley CP, McGann L, Gentile KL, Rockwell GN, Medeiros HM, Carvalho C, Macedo A, Dourado A, Valente J, Ferreira CP, Patterson NJ, Azevedo MH, Daly MJ, Pato CN, Pato MT, Sklar P.

Mol Psychiatry. 2005 Apr;10(4):366-74, 328.

PMID:
15545978
40.

Parathyroid carcinoma: a clinical study of seven cases of functioning and two cases of nonfunctioning parathyroid cancer.

Aldinger KA, Hickey RC, Ibanez ML, Samaan NA.

Cancer. 1982 Jan 15;49(2):388-97.

PMID:
7053835
41.

Estrogen receptor: a prognostic factor in breast cancer.

Samaan NA, Buzdar AU, Aldinger KA, Schultz PN, Yang KP, Romsdahl MM, Martin R.

Cancer. 1981 Feb 1;47(3):554-60.

PMID:
7226005
42.

Thyroid-stimulating hormone and prolactin levels in breast cancer.

Aldinger KA, Schultz PN, Blumenschein GR, Samaan NA.

Arch Intern Med. 1978 Nov;138(11):1638-41.

PMID:
102267
43.

Anaplastic carcinoma of the thyroid: a review of 84 cases of spindle and giant cell carcinoma of the thyroid.

Aldinger KA, Samaan NA, Ibanez M, Hill CS Jr.

Cancer. 1978 Jun;41(6):2267-75.

PMID:
657091
44.

Hypokalemia with hypercalcemia. Prevalence and significance in treatment.

Aldinger KA, Samaan NA.

Ann Intern Med. 1977 Nov;87(5):571-3.

PMID:
921086

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