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Items: 1 to 20 of 284

1.

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.

Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC; Undiagnosed Diseases Network, McConkie-Rosell A, McDonald M, Freedman SF, Rivière JB, Lafond-Lapalme J, Simpson BN, Hopkin RJ, Trimouille A, Van-Gils J, Begtrup A, McWalter K, Delphine H, Keren B, Genevieve D, Argilli E, Sherr EH, Severino M, Rouleau GA, Yam PT, Charron F, Srour M.

Am J Hum Genet. 2019 Oct 3;105(4):854-868. doi: 10.1016/j.ajhg.2019.09.005.

PMID:
31585109
2.

Urine lipoarabinomannan (LAM) and antimicrobial usage in seriously-ill HIV-infected patients with sputum smear-negative pulmonary tuberculosis.

Mthiyane T, Peter J, Allen J, Connolly C, Davids M, Rustomjee R, Holtz TH, Malinga L, Dheda K.

J Thorac Dis. 2019 Aug;11(8):3505-3514. doi: 10.21037/jtd.2019.07.69.

3.

Mitochondrial Reprogramming Underlies Resistance to BCL-2 Inhibition in Lymphoid Malignancies.

Guièze R, Liu VM, Rosebrock D, Jourdain AA, Hernández-Sánchez M, Martinez Zurita A, Sun J, Ten Hacken E, Baranowski K, Thompson PA, Heo JM, Cartun Z, Aygün O, Iorgulescu JB, Zhang W, Notarangelo G, Livitz D, Li S, Davids MS, Biran A, Fernandes SM, Brown JR, Lako A, Ciantra ZB, Lawlor MA, Keskin DB, Udeshi ND, Wierda WG, Livak KJ, Letai AG, Neuberg D, Harper JW, Carr SA, Piccioni F, Ott CJ, Leshchiner I, Johannessen CM, Doench J, Mootha VK, Getz G, Wu CJ.

Cancer Cell. 2019 Sep 4. pii: S1535-6108(19)30373-3. doi: 10.1016/j.ccell.2019.08.005. [Epub ahead of print]

PMID:
31543463
4.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV.

Am J Hum Genet. 2019 Sep 5;105(3):672-674. doi: 10.1016/j.ajhg.2019.07.017. No abstract available.

5.

Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation.

Pode-Shakked B, Heimer G, Vilboux T, Marek-Yagel D, Ben-Zeev B, Davids M, Ferreira CR, Philosoph AM, Veber A, Pode-Shakked N, Kenet G, Soudack M, Hoffmann C, Vernitsky H, Safaniev M, Lodzki M, Lahad A, Shouval DS, Levinkopf D, Weiss B, Barg AA, Daka A, Amariglio N, Malicdan MCV, Gahl WA, Anikster Y.

Mol Genet Metab. 2019 Aug 14. pii: S1096-7192(19)30527-X. doi: 10.1016/j.ymgme.2019.08.003. [Epub ahead of print]

PMID:
31445883
6.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Grønborg S, Mercier S, Küry S, Bézieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Désir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, López-Otín C, Santiago-Fernández O, Fernández-Jaén A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V; Undiagnosed Diseases Network, Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM Jr, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Pérez-Jurado LA, Kleefstra T, Penzes P, Wood SA, Burne T, Pierson TM, Piper M, Gécz J, Jolly LA.

Biol Psychiatry. 2019 Jun 29. pii: S0006-3223(19)31479-9. doi: 10.1016/j.biopsych.2019.05.028. [Epub ahead of print]

PMID:
31443933
7.

Genomics in medicine: a novel elective rotation for internal medicine residents.

Geng LN, Kohler JN, Levonian P; Members of the Undiagnosed Diseases Network, Bernstein JA, Ford JM, Ahuja N, Witteles R, Hom J, Wheeler M.

Postgrad Med J. 2019 Oct;95(1128):569-572. doi: 10.1136/postgradmedj-2018-136355. Epub 2019 Aug 22.

PMID:
31439813
8.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV.

Am J Hum Genet. 2019 Aug 1;105(2):413-424. doi: 10.1016/j.ajhg.2019.06.014. Epub 2019 Jul 18. Erratum in: Am J Hum Genet. 2019 Sep 5;105(3):672-674.

PMID:
31327508
9.

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

Bhatia A, Mobley BC, Cogan J, Koziura ME, Brokamp E, Phillips J, Newman J; Undiagnosed Diseases Network (UDN), Moore SA, Hamid R; Members of the Undiagnosed Diseases Network.

Clin Imaging. 2019 Jun 21;58:108-113. doi: 10.1016/j.clinimag.2019.06.010. [Epub ahead of print]

PMID:
31299614
10.

Sleepiness Score-Specific Outcomes of a Novel Tongue Repositioning Procedure for the Treatment of Continuous Positive Airway Pressure-Resistant Obstructive Sleep Apnea.

Hendricks R, Davids M, Khalfey H, Landman HJ, Theron AE, Engela E, Dheda K.

Ann Maxillofac Surg. 2019 Jan-Jun;9(1):28-36. doi: 10.4103/ams.ams_151_18.

11.

Consensus criteria for diagnosis, staging, and treatment response assessment of T-cell prolymphocytic leukemia.

Staber PB, Herling M, Bellido M, Jacobsen ED, Davids MS, Kadia TM, Shustov A, Tournilhac O, Bachy E, Zaja F, Porkka K, Hoermann G, Simonitsch-Klupp I, Haferlach C, Kubicek S, Mayerhoefer ME, Hopfinger G, Jaeger U, Dearden C.

Blood. 2019 Oct 3;134(14):1132-1143. doi: 10.1182/blood.2019000402. Epub 2019 Jul 10. Review.

PMID:
31292114
12.

Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.

Shashi V, Geist J, Lee Y, Yoo Y, Shin U, Schoch K, Sullivan J, Stong N, Smith E, Jasien J, Kranz P; Undiagnosed Diseases Network, Lee Y, Shin YB, Wright NT, Choi M, Kontrogianni-Konstantopoulos A.

Hum Mutat. 2019 Aug;40(8):1115-1126. doi: 10.1002/humu.23760. Epub 2019 May 5.

PMID:
31264822
13.

Prognostic Score and Cytogenetic Risk Classification for Chronic Lymphocytic Leukemia Patients: Center for International Blood and Marrow Transplant Research Report.

Kim HT, Ahn KW, Hu ZH, Davids MS, Volpe VO, Antin JH, Sorror ML, Shadman M, Press O, Pidala J, Hogan W, Negrin R, Devine S, Uberti J, Agura E, Nash R, Mehta J, McGuirk J, Forman S, Langston A, Giralt SA, Perales MA, Battiwalla M, Hale GA, Gale RP, Marks DI, Hamadani M, Ganguly S, Bacher U, Lazarus H, Reshef R, Hildebrandt GC, Inamoto Y, Cahn JY, Solh M, Kharfan-Dabaja MA, Ghosh N, Saad A, Aljurf M, Schouten HC, Hill BT, Pawarode A, Kindwall-Keller T, Saba N, Copelan EA, Nathan S, Beitinjaneh A, Savani BN, Cerny J, Grunwald MR, Yared J, Wirk BM, Nishihori T, Chhabra S, Olsson RF, Bashey A, Gergis U, Popat U, Sobecks R, Alyea E, Saber W, Brown JR.

Clin Cancer Res. 2019 Aug 15;25(16):5143-5155. doi: 10.1158/1078-0432.CCR-18-3988. Epub 2019 Jun 28.

PMID:
31253630
14.

Ibrutinib plus fludarabine, cyclophosphamide, and rituximab as initial treatment for younger patients with chronic lymphocytic leukaemia: a single-arm, multicentre, phase 2 trial.

Davids MS, Brander DM, Kim HT, Tyekucheva S, Bsat J, Savell A, Hellman JM, Bazemore J, Francoeur K, Alencar A, Shune L, Omaira M, Jacobson CA, Armand P, Ng S, Crombie J, LaCasce AS, Arnason J, Hochberg EP, Takvorian RW, Abramson JS, Fisher DC, Brown JR; Blood Cancer Research Partnership of the Leukemia & Lymphoma Society.

Lancet Haematol. 2019 Aug;6(8):e419-e428. doi: 10.1016/S2352-3026(19)30104-8. Epub 2019 Jun 14.

PMID:
31208944
15.

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.

Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium, Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB.

Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3.

PMID:
31160820
16.

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

Nicoli ER, Weston MR, Hackbarth M, Becerril A, Larson A, Zein WM, Baker PR 2nd, Burke JD, Dorward H, Davids M, Huang Y, Adams DR, Zerfas PM, Chen D, Markello TC, Toro C, Wood T, Elliott G, Vu M; Undiagnosed Diseases Network, Zheng W, Garrett LJ, Tifft CJ, Gahl WA, Day-Salvatore DL, Mindell JA, Malicdan MCV.

Am J Hum Genet. 2019 Jun 6;104(6):1127-1138. doi: 10.1016/j.ajhg.2019.04.008. Epub 2019 May 30.

PMID:
31155284
17.

IL-4 subverts mycobacterial containment in Mycobacterium tuberculosis-infected human macrophages.

Pooran A, Davids M, Nel A, Shoko A, Blackburn J, Dheda K.

Eur Respir J. 2019 Aug 8;54(2). pii: 1802242. doi: 10.1183/13993003.02242-2018. Print 2019 Aug.

PMID:
31097521
18.

Phase 1 study of lenalidomide, bendamustine, and rituximab in previously untreated patients with chronic lymphocytic leukemia.

Soumerai JD, Davids MS, Werner L, Fisher DC, Armand P, Amrein PC, Neuberg D, Hochberg EP, Brown JR, Abramson JS.

Leuk Lymphoma. 2019 May 10:1-8. doi: 10.1080/10428194.2019.1608533. [Epub ahead of print]

PMID:
31074316
19.

Psoriasiform eruptions secondary to phosphoinositide 3-kinase inhibition.

Dewan AK, Gupta S, Bach DQ, Jadeja S, Granter S, LaCasce A, Joyce R, Davids MS, Huang V, LeBoeuf NR.

JAAD Case Rep. 2019 Apr 20;5(5):401-405. doi: 10.1016/j.jdcr.2018.03.005. eCollection 2019 May. No abstract available.

20.

Venetoclax: R-CHOP rocket booster?

Herbaux C, Davids MS.

Blood. 2019 May 2;133(18):1922-1924. doi: 10.1182/blood-2019-03-901082. No abstract available.

PMID:
31048302

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