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Items: 1 to 50 of 58

1.

Eliminating Patient Identified Barriers to Decrease Medicaid Inpatient Admission Rates and Improve Quality of Care.

Davis T, Beste J, Batish S, Watford R, Farrell S.

J Am Board Fam Med. 2020 Mar-Apr;33(2):220-229. doi: 10.3122/jabfm.2020.02.190275.

2.

Decreasing Low Acuity Pediatric Emergency Room Visits with Increased Clinic Access and Improved Parent Education.

Davis T, Meyer A, Beste J, Batish S.

J Am Board Fam Med. 2018 Jul-Aug;31(4):550-557. doi: 10.3122/jabfm.2018.04.170474.

3.

Can Biomarkers Help Target Maturity-Onset Diabetes of the Young Genetic Testing in Antibody-Negative Diabetes?

Majidi S, Fouts A, Pyle L, Chambers C, Armstrong T, Wang Z, Batish SD, Klingensmith G, Steck AK.

Diabetes Technol Ther. 2018 Feb;20(2):106-112. doi: 10.1089/dia.2017.0317.

4.

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, Strom CM, Keiles SB, Higgins JJ.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

5.

Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHD.

Vasale J, Boyar F, Jocson M, Sulcova V, Chan P, Liaquat K, Hoffman C, Meservey M, Chang I, Tsao D, Hensley K, Liu Y, Owen R, Braastad C, Sun W, Walrafen P, Komatsu J, Wang JC, Bensimon A, Anguiano A, Jaremko M, Wang Z, Batish S, Strom C, Higgins J.

Neuromuscul Disord. 2015 Dec;25(12):945-51. doi: 10.1016/j.nmd.2015.08.008. Epub 2015 Aug 21.

PMID:
26420234
6.

Effect of teaching motivational interviewing via communication coaching on clinician and patient satisfaction in primary care and pediatric obesity-focused offices.

Pollak KI, Nagy P, Bigger J, Bilheimer A, Lyna P, Gao X, Lancaster M, Watkins RC, Johnson F, Batish S, Skelton JA, Armstrong S.

Patient Educ Couns. 2016 Feb;99(2):300-3. doi: 10.1016/j.pec.2015.08.013. Epub 2015 Aug 11.

PMID:
26320822
7.

Characteristics of maturity onset diabetes of the young in a large diabetes center.

Chambers C, Fouts A, Dong F, Colclough K, Wang Z, Batish SD, Jaremko M, Ellard S, Hattersley AT, Klingensmith G, Steck AK.

Pediatr Diabetes. 2016 Aug;17(5):360-7. doi: 10.1111/pedi.12289. Epub 2015 Jun 8.

8.

The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.

DiVincenzo C, Elzinga CD, Medeiros AC, Karbassi I, Jones JR, Evans MC, Braastad CD, Bishop CM, Jaremko M, Wang Z, Liaquat K, Hoffman CA, York MD, Batish SD, Lupski JR, Higgins JJ.

Mol Genet Genomic Med. 2014 Nov;2(6):522-9. doi: 10.1002/mgg3.106. Epub 2014 Aug 21.

9.

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.

Boone PM, Yuan B, Campbell IM, Scull JC, Withers MA, Baggett BC, Beck CR, Shaw CJ, Stankiewicz P, Moretti P, Goodwin WE, Hein N, Fink JK, Seong MW, Seo SH, Park SS, Karbassi ID, Batish SD, Ordóñez-Ugalde A, Quintáns B, Sobrido MJ, Stemmler S, Lupski JR.

Am J Hum Genet. 2014 Aug 7;95(2):143-61. doi: 10.1016/j.ajhg.2014.06.014. Epub 2014 Jul 24.

11.

Patient care outcomes of the SEAHEC Improving Performance in Practice (IPIP) experience.

Meyer AA, Donahue KE, Batish S, Gentry T, Adams A, Brown A, Baumann M.

J Am Board Fam Med. 2013 Jan-Feb;26(1):16-23. doi: 10.3122/jabfm.2013.01.120052.

12.

Severe dilated cardiomyopathy in a patient with myotonic dystrophy type 2 and homozygous repeat expansion in ZNF9.

Lee TM, Maurer MS, Karbassi I, Braastad C, Batish SD, Chung WK.

Congest Heart Fail. 2012 May-Jun;18(3):183-6. doi: 10.1111/j.1751-7133.2011.00265.x. Epub 2011 Nov 3. No abstract available.

13.

Ceftriaxone-induced acute reversible encephalopathy in a patient with enteric fever.

Sharma N, Batish S, Gupta A.

Indian J Pharmacol. 2012 Jan;44(1):124-5. doi: 10.4103/0253-7613.91884.

14.

Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.

Hoogeveen-Westerveld M, Ekong R, Povey S, Karbassi I, Batish SD, den Dunnen JT, van Eeghen A, Thiele E, Mayer K, Dies K, Wen L, Thompson C, Sparagana SP, Davies P, Aalfs C, van den Ouweland A, Halley D, Nellist M.

Hum Mutat. 2012 Mar;33(3):476-9. doi: 10.1002/humu.22007. Epub 2012 Jan 17.

PMID:
22161988
15.

The Alzheimer's Association external quality control program for cerebrospinal fluid biomarkers.

Mattsson N, Andreasson U, Persson S, Arai H, Batish SD, Bernardini S, Bocchio-Chiavetto L, Blankenstein MA, Carrillo MC, Chalbot S, Coart E, Chiasserini D, Cutler N, Dahlfors G, Duller S, Fagan AM, Forlenza O, Frisoni GB, Galasko D, Galimberti D, Hampel H, Handberg A, Heneka MT, Herskovits AZ, Herukka SK, Holtzman DM, Humpel C, Hyman BT, Iqbal K, Jucker M, Kaeser SA, Kaiser E, Kapaki E, Kidd D, Klivenyi P, Knudsen CS, Kummer MP, Lui J, Lladó A, Lewczuk P, Li QX, Martins R, Masters C, McAuliffe J, Mercken M, Moghekar A, Molinuevo JL, Montine TJ, Nowatzke W, O'Brien R, Otto M, Paraskevas GP, Parnetti L, Petersen RC, Prvulovic D, de Reus HP, Rissman RA, Scarpini E, Stefani A, Soininen H, Schröder J, Shaw LM, Skinningsrud A, Skrogstad B, Spreer A, Talib L, Teunissen C, Trojanowski JQ, Tumani H, Umek RM, Van Broeck B, Vanderstichele H, Vecsei L, Verbeek MM, Windisch M, Zhang J, Zetterberg H, Blennow K.

Alzheimers Dement. 2011 Jul;7(4):386-395.e6. doi: 10.1016/j.jalz.2011.05.2243. Erratum in: Alzheimers Dement. 2011 Sep;7(5):556.

16.
17.

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.

Nicholson G, Lenk GM, Reddel SW, Grant AE, Towne CF, Ferguson CJ, Simpson E, Scheuerle A, Yasick M, Hoffman S, Blouin R, Brandt C, Coppola G, Biesecker LG, Batish SD, Meisler MH.

Brain. 2011 Jul;134(Pt 7):1959-71. doi: 10.1093/brain/awr148.

18.

Technical standards and guidelines for spinal muscular atrophy testing.

Prior TW, Nagan N, Sugarman EA, Batish SD, Braastad C.

Genet Med. 2011 Jul;13(7):686-94. doi: 10.1097/GIM.0b013e318220d523.

PMID:
21673580
19.

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia.

Boone PM, Liu P, Zhang F, Carvalho CM, Towne CF, Batish SD, Lupski JR.

Genet Med. 2011 Jun;13(6):582-92. doi: 10.1097/GIM.0b013e3182106775.

20.

Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.

Xiao J, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello R, Blitzer A, Batish SD, Wszolek ZK, Uitti RJ, Van Gerpen JA, Hedera P, Simon DK, Tarsy D, Truong DD, Frei KP, Pfeiffer RF, Gong S, LeDoux MS.

Hum Genet. 2010 Apr;127(4):470. No abstract available.

PMID:
21488298
21.

Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.

Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello R, Blitzer A, Batish SD, Wszolek ZK, Uitti RJ, Van Gerpen JA, Hedera P, Simon DK, Tarsy D, Truong DD, Frei KP, Pfeiffer RF, Gong S, LeDoux MS.

Hum Genet. 2010 Apr;127(4):470. No abstract available.

PMID:
21488297
22.

Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.

Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello R, Blitzer A, Batish SD, Wszolek ZK, Uitti RJ, Van Gerpen JA, Hedera P, Simon DK, Tarsy D, Truong DD, Frei KP, Pfeiffer RF, Gong S, LeDoux MS.

Hum Genet. 2010 Apr;127(4):469-70. No abstract available.

PMID:
21488296
23.

Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.

Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello R, Blitzer A, Batish SD, Wszolek ZK, Uitti RJ, Van Gerpen JA, Hedera P, Simon DK, Tarsy D, Truong DD, Frei KP, Pfeiffer RF, Gong S, LeDoux MS.

Hum Genet. 2010 Apr;127(4):469. No abstract available.

PMID:
21488277
24.

Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.

Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello R, Blitzer A, Batish SD, Wszolek ZK, Uitti RJ, Van Gerpen JA, Hedera P, Simon DK, Tarsy D, Truong DD, Frei KP, Pfeiffer RF, Gong S, LeDoux MS.

Hum Genet. 2010 Apr;127(4):470. No abstract available.

PMID:
21488252
25.

Denys-Drash syndrome with neonatal renal failure in monozygotic twins due to c.1097G>A mutation in the WT1 gene.

Furtado LV, Pysher T, Opitz J, Lamb R, Comstock J, Batish S, Mauch T, Nelson R, Zhou H.

Fetal Pediatr Pathol. 2011;30(4):266-72. doi: 10.3109/15513815.2011.555814. Epub 2011 Mar 24.

PMID:
21434831
26.

Novel MPZ mutations and congenital hypomyelinating neuropathy.

McMillan HJ, Santagata S, Shapiro F, Batish SD, Couchon L, Donnelly S, Kang PB.

Neuromuscul Disord. 2010 Nov;20(11):725-9. doi: 10.1016/j.nmd.2010.06.004.

27.

GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease.

Gonzaga-Jauregui C, Zhang F, Towne CF, Batish SD, Lupski JR.

Neurogenetics. 2010 Oct;11(4):465-70. doi: 10.1007/s10048-010-0247-4. Epub 2010 Jun 9.

28.

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.

Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR.

Am J Hum Genet. 2010 Jun 11;86(6):892-903. doi: 10.1016/j.ajhg.2010.05.001. Epub 2010 May 20.

29.

Left ventricular noncompaction: a rare disorder in adults and its association with 1p36 chromosomal anomaly.

Dod HS, Bhardwaj R, Hummel M, Morise AP, Batish S, Warden BE, Beto RJ, Jain AC.

Am J Med Genet A. 2010 Jan;152A(1):191-5. doi: 10.1002/ajmg.a.33155.

PMID:
20034097
30.

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.

Zhang F, Khajavi M, Connolly AM, Towne CF, Batish SD, Lupski JR.

Nat Genet. 2009 Jul;41(7):849-53. doi: 10.1038/ng.399. Epub 2009 Jun 21.

31.

Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group.

Ali AM, Kirby M, Jansen M, Lach FP, Schulte J, Singh TR, Batish SD, Auerbach AD, Williams DA, Meetei AR.

Hum Mutat. 2009 Jul;30(7):E761-70. doi: 10.1002/humu.21032.

32.

High-throughput mutational analysis of TOR1A in primary dystonia.

Xiao J, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Blitzer A, Batish SD, Wszolek ZK, Uitti RJ, Hedera P, Simon DK, Tarsy D, Truong DD, Frei KP, Pfeiffer RF, Gong S, Zhao Y, LeDoux MS.

BMC Med Genet. 2009 Mar 11;10:24. doi: 10.1186/1471-2350-10-24.

33.

Myotonic dystrophy type 2 with focal asymmetric muscle weakness and no electrical myotonia.

Milone M, Batish SD, Daube JR.

Muscle Nerve. 2009 Mar;39(3):383-5. doi: 10.1002/mus.21150.

PMID:
19208413
34.

Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.

Garcia-Gonzalez MA, Jones JG, Allen SK, Palatucci CM, Batish SD, Seltzer WK, Lan Z, Allen E, Qian F, Lens XM, Pei Y, Germino GG, Watnick TJ.

Mol Genet Metab. 2007 Sep-Oct;92(1-2):160-7. Epub 2007 Jun 18.

35.

Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype.

Kalb R, Neveling K, Hoehn H, Schneider H, Linka Y, Batish SD, Hunt C, Berwick M, Callen E, Surralles J, Casado JA, Bueren J, Dasi A, Soulier J, Gluckman E, Zwaan CM, van Spaendonk R, Pals G, de Winter JP, Joenje H, Grompe M, Auerbach AD, Hanenberg H, Schindler D.

Am J Hum Genet. 2007 May;80(5):895-910. Epub 2007 Apr 6. Erratum in: Am J Hum Genet. 2007 Jul;81(1):196.

36.

The spectrum of SCN1A-related infantile epileptic encephalopathies.

Harkin LA, McMahon JM, Iona X, Dibbens L, Pelekanos JT, Zuberi SM, Sadleir LG, Andermann E, Gill D, Farrell K, Connolly M, Stanley T, Harbord M, Andermann F, Wang J, Batish SD, Jones JG, Seltzer WK, Gardner A; Infantile Epileptic Encephalopathy Referral Consortium, Sutherland G, Berkovic SF, Mulley JC, Scheffer IE.

Brain. 2007 Mar;130(Pt 3):843-52.

PMID:
17347258
37.

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.

Reid S, Schindler D, Hanenberg H, Barker K, Hanks S, Kalb R, Neveling K, Kelly P, Seal S, Freund M, Wurm M, Batish SD, Lach FP, Yetgin S, Neitzel H, Ariffin H, Tischkowitz M, Mathew CG, Auerbach AD, Rahman N.

Nat Genet. 2007 Feb;39(2):162-4. Epub 2006 Dec 31.

PMID:
17200671
38.

In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome.

Bassuk AG, Chen YZ, Batish SD, Nagan N, Opal P, Chance PF, Bennett CL.

Neurogenetics. 2007 Jan;8(1):45-9. Epub 2006 Nov 10.

PMID:
17096168
39.

Aprataxin (APTX) gene mutations resembling multiple system atrophy.

Baba Y, Uitti RJ, Boylan KB, Uehara Y, Yamada T, Farrer MJ, Couchon E, Batish SD, Wszolek ZK.

Parkinsonism Relat Disord. 2007 Apr;13(3):139-42. Epub 2006 Oct 27.

PMID:
17049295
40.

GST genotype may modify clinical phenotype in patients with Fanconi anaemia.

Davies SM, Radloff GA, DeFor TE, Levran O, Batish SD, Hanenberg H, Auerbach AD.

Br J Haematol. 2005 Oct;131(1):118-22.

PMID:
16173971
41.

The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.

Levran O, Attwooll C, Henry RT, Milton KL, Neveling K, Rio P, Batish SD, Kalb R, Velleuer E, Barral S, Ott J, Petrini J, Schindler D, Hanenberg H, Auerbach AD.

Nat Genet. 2005 Sep;37(9):931-3. Epub 2005 Aug 21.

PMID:
16116424
42.

A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients.

Chandra S, Levran O, Jurickova I, Maas C, Kapur R, Schindler D, Henry R, Milton K, Batish SD, Cancelas JA, Hanenberg H, Auerbach AD, Williams DA.

Mol Ther. 2005 Nov;12(5):976-84. Epub 2005 Aug 9.

43.

Anti-MuSK myasthenia gravis presenting with purely ocular findings.

Caress JB, Hunt CH, Batish SD.

Arch Neurol. 2005 Jun;62(6):1002-3.

PMID:
15956173
44.

Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study.

Levran O, Diotti R, Pujara K, Batish SD, Hanenberg H, Auerbach AD.

Hum Mutat. 2005 Feb;25(2):142-9.

PMID:
15643609
45.

Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia.

Wagner JE, Tolar J, Levran O, Scholl T, Deffenbaugh A, Satagopan J, Ben-Porat L, Mah K, Batish SD, Kutler DI, MacMillan ML, Hanenberg H, Auerbach AD.

Blood. 2004 Apr 15;103(8):3226-9. Epub 2004 Jan 8.

PMID:
15070707
46.

Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia.

Offit K, Levran O, Mullaney B, Mah K, Nafa K, Batish SD, Diotti R, Schneider H, Deffenbaugh A, Scholl T, Proud VK, Robson M, Norton L, Ellis N, Hanenberg H, Auerbach AD.

J Natl Cancer Inst. 2003 Oct 15;95(20):1548-51.

PMID:
14559878
47.

Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study.

Auerbach AD, Greenbaum J, Pujara K, Batish SD, Bitencourt MA, Kokemohr I, Schneider H, Lobitzc S, Pasquini R, Giampietro PF, Hanenberg H, Levran O; International Fanconi Anemia Registry.

Hum Mutat. 2003 Feb;21(2):158-68. Erratum in: Hum Mutat. 2003 Sep;22(3):255.

PMID:
12552564
48.

High incidence of head and neck squamous cell carcinoma in patients with Fanconi anemia.

Kutler DI, Auerbach AD, Satagopan J, Giampietro PF, Batish SD, Huvos AG, Goberdhan A, Shah JP, Singh B.

Arch Otolaryngol Head Neck Surg. 2003 Jan;129(1):106-12.

PMID:
12525204
49.

A 20-year perspective on the International Fanconi Anemia Registry (IFAR).

Kutler DI, Singh B, Satagopan J, Batish SD, Berwick M, Giampietro PF, Hanenberg H, Auerbach AD.

Blood. 2003 Feb 15;101(4):1249-56. Epub 2002 Sep 26.

PMID:
12393516
50.

Phenotypic correction of primary Fanconi anemia T cells with retroviral vectors as a diagnostic tool.

Hanenberg H, Batish SD, Pollok KE, Vieten L, Verlander PC, Leurs C, Cooper RJ, Göttsche K, Haneline L, Clapp DW, Lobitz S, Williams DA, Auerbach AD.

Exp Hematol. 2002 May;30(5):410-20.

PMID:
12031647

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