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Items: 1 to 50 of 572

1.

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy.

Johannesen KM, Mitter D, Janowski R, Roth C, Toulouse J, Poulat AL, Ville DM, Chatron N, Brilstra E, Geleijns K, Born AP, McLean S, Nugent K, Baynam G, Poulton C, Dreyer L, Gration D, Schulz S, Dieckmann A, Helbig KL, Merkenschlager A, Jamra R, Finck A, Gardella E, Hjalgrim H, Mirzaa G, Brancati F, Bierhals T, Denecke J, Hempel M, Lemke JR, Rubboli G, Muschke P, Guerrini R, Vetro A, Niessing D, Lesca G, Møller RS.

Neurol Genet. 2019 Dec 10;5(6):e373. doi: 10.1212/NXG.0000000000000373. eCollection 2019 Dec.

2.

Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO.

Sewani M, Nugent K, Blackburn PR, Tarnowski JM, Hernandez-Garcia A, Amiel J, Whalen S, Keren B, Courtin T, Rosenfeld JA, Yang Y, Patterson MC, Pichurin P, McLean SD, Scott DA.

Am J Med Genet A. 2019 Dec 28. doi: 10.1002/ajmg.a.61466. [Epub ahead of print]

PMID:
31883306
3.

Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.

Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Vergano SAS, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Feldman HB, Campeau PM, Muenke M, Wade PA, Lachlan K.

Genet Med. 2019 Dec 17. doi: 10.1038/s41436-019-0727-3. [Epub ahead of print]

PMID:
31844176
4.

Glucose and Lactate Levels at Admission as Predictors of In-hospital Mortality.

Sotello D, Yang S, Nugent K.

Cureus. 2019 Oct 29;11(10):e6027. doi: 10.7759/cureus.6027.

5.

Cardiogenic Pulmonary Edema.

Dobbe L, Rahman R, Elmassry M, Paz P, Nugent K.

Am J Med Sci. 2019 Dec;358(6):389-397. doi: 10.1016/j.amjms.2019.09.011. Epub 2019 Oct 1. Review.

PMID:
31813466
6.

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. 2020 Mar;41(3):641-654. doi: 10.1002/humu.23960. Epub 2019 Dec 19.

PMID:
31769566
7.

Pain Severity and Adequacy of Pain Management in Terminally Ill Patients with Cancer: An Experience from North Palestine.

Mallah H, Mousa R, Fadl NB, Musmar S, Ball S, Nugent K.

Indian J Palliat Care. 2019 Oct-Dec;25(4):494-500. doi: 10.4103/IJPC.IJPC_39_19.

8.

Advanced glycation end products and glycosaminoglycans in patients with diabetic ketoacidosis.

Edriss H, Molehin AJ, Selvan K, Gavidia R, Patel PU, Nugent K.

J Investig Med. 2019 Oct 30. pii: jim-2019-001130. doi: 10.1136/jim-2019-001130. [Epub ahead of print]

PMID:
31672720
9.

One approach to circulation and blood flow in the critical care unit.

Pena-Hernandez C, Nugent K.

World J Crit Care Med. 2019 Jul 31;8(4):36-48. doi: 10.5492/wjccm.v8.i4.36. eCollection 2019 Jul 31. Review.

10.

Lung morphology and surfactant function in cardiogenic pulmonary edema: a narrative review.

Nugent K, Dobbe L, Rahman R, Elmassry M, Paz P.

J Thorac Dis. 2019 Sep;11(9):4031-4038. doi: 10.21037/jtd.2019.09.02. Review.

11.

Ptychographic imaging of NaD1 induced yeast cell death.

Anthony N, Darmanin C, Bleackley MR, Parisi K, Cadenazzi G, Holmes S, Anderson MA, Nugent KA, Abbey B.

Biomed Opt Express. 2019 Sep 6;10(10):4964-4974. doi: 10.1364/BOE.10.004964. eCollection 2019 Oct 1.

12.

Prevalence of Bactericidal/Permeability-Increasing Protein Autoantibodies in Cystic Fibrosis Patients: Systematic Review and Meta-Analysis.

Iwuji K, Larumbe-Zabala E, Bijlani S, Nugent K, Kanu A, Manning E, Solis X.

Pediatr Allergy Immunol Pulmonol. 2019 Jun 1;32(2):45-51. doi: 10.1089/ped.2018.0970. Epub 2019 Jun 17. Review.

PMID:
31508255
13.

Proton pump inhibitors and histamine-2 receptor antagonists on the risk of pancreatic cancer: a systematic review and meta-analysis.

Laoveeravat P, Thavaraputta S, Vutthikraivit W, Suchartlikitwong S, Mingbunjerdsuk T, Motes A, Nugent K, Rakvit A, Islam E, Islam S.

QJM. 2020 Feb 1;113(2):100-107. doi: 10.1093/qjmed/hcz234.

PMID:
31503318
14.

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.

Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K.

Genet Med. 2020 Feb;22(2):389-397. doi: 10.1038/s41436-019-0612-0. Epub 2019 Aug 7. Erratum in: Genet Med. 2019 Dec 17;:.

PMID:
31388190
15.

Glycated hemoglobin, admission blood glucose delta, and associated mortality in patients with acute ST-segment elevation myocardial infarction.

Orellana-Barrios MA, Fries JW, Nugent K, Shurmur S.

Proc (Bayl Univ Med Cent). 2019 Jun 3;32(3):325-330. doi: 10.1080/08998280.2019.1606614. eCollection 2019 Jul.

16.

Optimal sequences of same-visit bidirectional endoscopy: Systematic review and meta-analysis.

Laoveeravat P, Thavaraputta S, Suchartlikitwong S, Vutthikraivit W, Mingbunjerdsuk T, Motes A, Nugent K, Perisetti A, Tharian B, Islam S, Rakvit A.

Dig Endosc. 2019 Jul 31. doi: 10.1111/den.13503. [Epub ahead of print] Review.

PMID:
31368170
17.

Delayed Respiratory Distress in a Patient With Chronic Obstructive Pulmonary Disease After Abdominal Surgery.

Riccione A, Nugent K.

Am J Med Sci. 2019 Aug;358(2):159-163. doi: 10.1016/j.amjms.2019.04.028. Epub 2019 May 7.

PMID:
31331453
18.

Interstitial lung disease associated with anti-PM-Scl antibody: A single center experience.

Ussavarungsi K, Nugent K, Gerke AK, Krasowski MD, Tuetken RS, Lenert PS.

Autoimmun Rev. 2019 Sep;18(9):102355. doi: 10.1016/j.autrev.2019.102355. Epub 2019 Jul 16. No abstract available.

PMID:
31323356
19.

A Comparison of Efficacy of Treatment and Time to Administration of Naloxone by BLS and ALS Providers.

Nugent K, Matthews P, Gissendaner J, Papas M, Occident D, Patel A, Johnson M, Megargel RE, Nomura JT.

Prehosp Disaster Med. 2019 Aug;34(4):350-355. doi: 10.1017/S1049023X19004527. Epub 2019 Jul 19.

PMID:
31322097
20.

Hypothyroidism and Its Association With Sleep Apnea Among Adults in the United States: NHANES 2007-2008.

Thavaraputta S, Dennis JA, Laoveeravat P, Nugent K, Rivas AM.

J Clin Endocrinol Metab. 2019 Nov 1;104(11):4990-4997. doi: 10.1210/jc.2019-01132.

PMID:
31305928
21.

Atypical presentation of a forgotten disease: refractory hypotension in beriberi.

Pachariyanon P, Thakolwiboon S, Motes A, Payne JD, Nugent K.

Eur J Clin Nutr. 2019 Dec;73(12):1598-1600. doi: 10.1038/s41430-019-0469-y. Epub 2019 Jul 8.

PMID:
31285553
22.

The association between admission glucose levels and outcomes in adults admitted to a tertiary care hospital.

Mcgrade P, Yang S, Nugent K.

J Community Hosp Intern Med Perspect. 2019 Jun 19;9(3):195-202. doi: 10.1080/20009666.2019.1611318. eCollection 2019.

23.

A Detailed Analysis of Perforations During Chronic Total Occlusion Angioplasty.

Hirai T, Nicholson WJ, Sapontis J, Salisbury AC, Marso SP, Lombardi W, Karmpaliotis D, Moses J, Pershad A, Wyman RM, Spaedy A, Cook S, Doshi P, Federici R, Nugent K, Gosch KL, Spertus JA, Grantham JA; OPEN-CTO Study Group.

JACC Cardiovasc Interv. 2019 Oct 14;12(19):1902-1912. doi: 10.1016/j.jcin.2019.05.024. Epub 2019 Jun 26.

PMID:
31255554
24.

Soldier Attitudes Toward Behavioral Health Profiles in the US Army.

Curley JM, McDonald JL, Nugent KL, Clarke-Walper KM, Penix EA, Riviere LA, Kim PY, Wilk JE.

Mil Med. 2020 Feb 12;185(1-2):84-91. doi: 10.1093/milmed/usz133.

PMID:
31247103
25.

Patient Characteristics Associated With Antianginal Medication Escalation and De-Escalation Following Chronic Total Occlusion Percutaneous Coronary Intervention.

Hirai T, Qintar M, Grantham JA, Sapontis J, Cohen DJ, Lombardi W, Karmpaliotis D, Moses J, Nicholson WJ, Nugent K, Gosch KL, Spertus JA, Salisbury AC.

Circ Cardiovasc Qual Outcomes. 2019 Jun;12(6):e005287. doi: 10.1161/CIRCOUTCOMES.118.005287. Epub 2019 Jun 12.

PMID:
31185735
26.

Evolving spectrum of diabetic nephropathy.

Kopel J, Pena-Hernandez C, Nugent K.

World J Diabetes. 2019 May 15;10(5):269-279. doi: 10.4239/wjd.v10.i5.269. Review.

27.

Meta-analysis comparing the effects of statins on the risk of Clostridium difficile diarrhea.

Suchartlikitwong S, Laoveeravat P, Teerakanok J, Mingbunjerdsuk T, Thavaraputta S, Vutthikraivit W, Thongprayoon C, Nugent K, Cheungpasitporn W.

Proc (Bayl Univ Med Cent). 2018 Sep 19;31(4):447-452. doi: 10.1080/08998280.2018.1472994. eCollection 2018 Oct.

28.

Prophylactic pre-esophagogastroduodenoscopy tracheal intubation in patients with upper gastrointestinal bleeding.

Perisetti A, Kopel J, Shredi A, Raghavapuram S, Tharian B, Nugent K.

Proc (Bayl Univ Med Cent). 2019 Jan 15;32(1):22-25. doi: 10.1080/08998280.2018.1530007. eCollection 2019 Jan.

29.

Solicitation for article submission by electronic journals.

Ball S, Kopel J, Alexander R, Nugent K.

Proc (Bayl Univ Med Cent). 2018 Sep 24;31(4):443-446. doi: 10.1080/08998280.2018.1498725. eCollection 2018 Oct.

30.

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Lloyd Holder J Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P.

Genome Med. 2019 Mar 25;11(1):16. doi: 10.1186/s13073-019-0630-1.

31.

Quality of Life Changes After Chronic Total Occlusion Angioplasty in Patients With Baseline Refractory Angina.

Hirai T, Grantham JA, Sapontis J, Cohen DJ, Marso SP, Lombardi W, Karmpaliotis D, Moses J, Nicholson WJ, Pershad A, Wyman RM, Spaedy A, Cook S, Doshi P, Federici R, Nugent K, Gosch KL, Spertus JA, Salisbury AC.

Circ Cardiovasc Interv. 2019 Mar;12(3):e007558. doi: 10.1161/CIRCINTERVENTIONS.118.007558.

PMID:
30871356
32.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P.

Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. Erratum in: Genome Med. 2019 Mar 25;11(1):16.

33.

Single lung ventilation in patients undergoing lobectomy.

Aloud A, Berdine G, Nugent K.

J Thorac Dis. 2018 Dec;10(12):6383-6387. doi: 10.21037/jtd.2018.11.05. No abstract available.

34.

Implications of mean platelet volume in health and disease: A large population study on data from National Health and Nutrition Examination Survey.

Ball S, Arevalo M, Wongsaengsak S, Dennis JA, Nugent K.

Thromb Res. 2019 Mar;175:90-94. doi: 10.1016/j.thromres.2019.01.011. Epub 2019 Jan 17.

PMID:
30731389
35.

Sinonasal and Laryngeal Sarcoidosis-An Uncommon Presentation and Management Challenge.

Edriss H, Kelley JS, Demke J, Nugent K.

Am J Med Sci. 2019 Feb;357(2):93-102. doi: 10.1016/j.amjms.2018.11.007. Epub 2018 Nov 22. Review.

PMID:
30665498
36.

A sex stratified outcome analysis from the OPEN-CTO registry.

Pershad A, Gulati M, Karmpaliotis D, Moses J, Nicholson WJ, Nugent K, Tang Y, Sapontis J, Lombardi W, Grantham JA; OPEN CTO Subgroup.

Catheter Cardiovasc Interv. 2019 May 1;93(6):1041-1047. doi: 10.1002/ccd.28023. Epub 2018 Dec 19.

PMID:
30569618
37.

Mega Journals, Scientifically Sound Peer Review and Medical Organizations.

Nugent K, Edriss H, Ball S, Björk BC.

Am J Med Sci. 2019 Jan;357(1):3-4. doi: 10.1016/j.amjms.2018.09.003. Epub 2018 Sep 19. No abstract available.

PMID:
30528946
38.

Bedside Ultrasonography in the Management of Penetrating Cardiac Injury Caused by a Nail Gun.

Panicker AT, Nugent K, Mink J, Glaser J, Bradley K, Siric F, Nomura JT.

J Emerg Med. 2019 Feb;56(2):197-200. doi: 10.1016/j.jemermed.2018.09.036. Epub 2018 Oct 30.

PMID:
30389284
39.

Megahertz serial crystallography.

Wiedorn MO, Oberthür D, Bean R, Schubert R, Werner N, Abbey B, Aepfelbacher M, Adriano L, Allahgholi A, Al-Qudami N, Andreasson J, Aplin S, Awel S, Ayyer K, Bajt S, Barák I, Bari S, Bielecki J, Botha S, Boukhelef D, Brehm W, Brockhauser S, Cheviakov I, Coleman MA, Cruz-Mazo F, Danilevski C, Darmanin C, Doak RB, Domaracky M, Dörner K, Du Y, Fangohr H, Fleckenstein H, Frank M, Fromme P, Gañán-Calvo AM, Gevorkov Y, Giewekemeyer K, Ginn HM, Graafsma H, Graceffa R, Greiffenberg D, Gumprecht L, Göttlicher P, Hajdu J, Hauf S, Heymann M, Holmes S, Horke DA, Hunter MS, Imlau S, Kaukher A, Kim Y, Klyuev A, Knoška J, Kobe B, Kuhn M, Kupitz C, Küpper J, Lahey-Rudolph JM, Laurus T, Le Cong K, Letrun R, Xavier PL, Maia L, Maia FRNC, Mariani V, Messerschmidt M, Metz M, Mezza D, Michelat T, Mills G, Monteiro DCF, Morgan A, Mühlig K, Munke A, Münnich A, Nette J, Nugent KA, Nuguid T, Orville AM, Pandey S, Pena G, Villanueva-Perez P, Poehlsen J, Previtali G, Redecke L, Riekehr WM, Rohde H, Round A, Safenreiter T, Sarrou I, Sato T, Schmidt M, Schmitt B, Schönherr R, Schulz J, Sellberg JA, Seibert MM, Seuring C, Shelby ML, Shoeman RL, Sikorski M, Silenzi A, Stan CA, Shi X, Stern S, Sztuk-Dambietz J, Szuba J, Tolstikova A, Trebbin M, Trunk U, Vagovic P, Ve T, Weinhausen B, White TA, Wrona K, Xu C, Yefanov O, Zatsepin N, Zhang J, Perbandt M, Mancuso AP, Betzel C, Chapman H, Barty A.

Nat Commun. 2018 Oct 2;9(1):4025. doi: 10.1038/s41467-018-06156-7.

40.

Multi-year net ecosystem carbon balance of a restored peatland reveals a return to carbon sink.

Nugent KA, Strachan IB, Strack M, Roulet NT, Rochefort L.

Glob Chang Biol. 2018 Dec;24(12):5751-5768. doi: 10.1111/gcb.14449. Epub 2018 Oct 9.

PMID:
30225998
41.

The Dust Bowl in the US: An Analysis Based on Current Environmental and Clinical Studies.

Alexander R, Nugent C, Nugent K.

Am J Med Sci. 2018 Aug;356(2):90-96. doi: 10.1016/j.amjms.2018.03.015. Epub 2018 Mar 26.

PMID:
30219167
42.

Thiamine Deficiency: An Important Consideration in Critically Ill Patients.

Attaluri P, Castillo A, Edriss H, Nugent K.

Am J Med Sci. 2018 Oct;356(4):382-390. doi: 10.1016/j.amjms.2018.06.015. Epub 2018 Jun 21. Review.

PMID:
30146080
43.

O-GlcNAcylation is required for mutant KRAS-induced lung tumorigenesis.

Taparra K, Wang H, Malek R, Lafargue A, Barbhuiya MA, Wang X, Simons BW, Ballew M, Nugent K, Groves J, Williams RD, Shiraishi T, Verdone J, Yildirir G, Henry R, Zhang B, Wong J, Wang KK, Nelkin BD, Pienta KJ, Felsher D, Zachara NE, Tran PT.

J Clin Invest. 2018 Nov 1;128(11):4924-4937. doi: 10.1172/JCI94844. Epub 2018 Sep 24.

44.

Outcomes in Patients With Acute Stroke Requiring Mechanical Ventilation: Predictors of Mortality and Successful Extubation.

Popat C, Ruthirago D, Shehabeldin M, Yang S, Nugent K.

Am J Med Sci. 2018 Jul;356(1):3-9. doi: 10.1016/j.amjms.2018.03.013. Epub 2018 Mar 20.

PMID:
30049327
45.

Stereotactic radiosurgery to surgical cavity post resection of brain metastases: Local recurrence and overall survival rates. A single-centre experience.

Higgins MJ, Burke O, Fitzpatrick D, Nugent KG, Skourou C, Dunne M, Javadpour M, Faul C.

J Med Imaging Radiat Oncol. 2018 Oct;62(5):726-733. doi: 10.1111/1754-9485.12777. Epub 2018 Jul 25.

PMID:
30044047
46.

Bilateral versus unilateral botulinum toxin injections for chronic anal fissure: a randomised trial.

Pilkington SA, Bhome R, Welch RE, Ku F, Warden C, Harris S, Hicks J, Richardson C, Dudding TC, Knight JS, King AT, Mirnezami AH, Beck NE, Nichols PH, Nugent KP.

Tech Coloproctol. 2018 Jul;22(7):545-551. doi: 10.1007/s10151-018-1821-2. Epub 2018 Jul 18.

47.

ATR kinase inhibitor AZD6738 potentiates CD8+ T cell-dependent antitumor activity following radiation.

Vendetti FP, Karukonda P, Clump DA, Teo T, Lalonde R, Nugent K, Ballew M, Kiesel BF, Beumer JH, Sarkar SN, Conrads TP, O'Connor MJ, Ferris RL, Tran PT, Delgoffe GM, Bakkenist CJ.

J Clin Invest. 2018 Aug 31;128(9):3926-3940. doi: 10.1172/JCI96519. Epub 2018 Aug 13.

48.

Chronic peritoneal indwelling catheters for the management of malignant and nonmalignant ascites.

Caldwell J, Edriss H, Nugent K.

Proc (Bayl Univ Med Cent). 2018 Jun 1;31(3):297-302. doi: 10.1080/08998280.2018.1461525. eCollection 2018 Jul. Review.

49.

Prescription opioid use among individuals with serious mental illness.

Spivak S, Cullen B, Eaton W, Nugent K, Spivak A, Fenton A, Rodriguez K, Mojtabai R.

Psychiatry Res. 2018 Sep;267:85-87. doi: 10.1016/j.psychres.2018.05.075. Epub 2018 May 31.

PMID:
29886275
50.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Reijnders MRF, Miller KA, Alvi M, Goos JAC, Lees MM, de Burca A, Henderson A, Kraus A, Mikat B, de Vries BBA, Isidor B, Kerr B, Marcelis C, Schluth-Bolard C, Deshpande C, Ruivenkamp CAL, Wieczorek D; Deciphering Developmental Disorders Study, Baralle D, Blair EM, Engels H, Lüdecke HJ, Eason J, Santen GWE, Clayton-Smith J, Chandler K, Tatton-Brown K, Payne K, Helbig K, Radtke K, Nugent KM, Cremer K, Strom TM, Bird LM, Sinnema M, Bitner-Glindzicz M, van Dooren MF, Alders M, Koopmans M, Brick L, Kozenko M, Harline ML, Klaassens M, Steinraths M, Cooper NS, Edery P, Yap P, Terhal PA, van der Spek PJ, Lakeman P, Taylor RL, Littlejohn RO, Pfundt R, Mercimek-Andrews S, Stegmann APA, Kant SG, McLean S, Joss S, Swagemakers SMA, Douzgou S, Wall SA, Küry S, Calpena E, Koelling N, McGowan SJ, Twigg SRF, Mathijssen IMJ, Nellaker C, Brunner HG, Wilkie AOM.

Am J Hum Genet. 2018 Jun 7;102(6):1195-1203. doi: 10.1016/j.ajhg.2018.04.014. Epub 2018 May 31.

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