Arsenic exposure to mouse visceral leishmaniasis model through their drinking water linked to the disease exacerbation via modulation in host protective immunity: a preclinical study.

Ahmed G, Jamal F, Tiwari RK, Singh V, Rai SN, Chaturvedi SK, Pandey K, Singh SK, Kumar A, Narayan S, Vamanu E

Prevalence of covid-19 among patients with chronic obstructive pulmonary disease and tuberculosis.

Muneeb Hassan M, Ameeq M, Jamal F, Tahir MH, Mendy JT

COVID-19 Vaccination Among Diverse Population Groups in the Northern Governorates of Iraq.

Gubari MIM, Wadi F, Hama-Ghareeb KA, Fatah FH, Hosseini M, Wale KR, Hipgrave D, Ali SR, Mahmood SO, Ezzat Khadium W, Mohammed HH, Jaafer SF, Al Saadi NM, Mohammed KA, Saeed SS, Mohammad MY, Khudhur WH, Wael Saleh M, Sheat YS, Ibrahim KK, Nabeil Salah M, Abdullah AH, Omer DS, Ghafur RN, Mustafa KA, Faraj AO, Ali TB, Aziz Enayat K, Wahab RA, Ali Al-Jaf IA, Hama Amin NH, Jaff DD, Bra AM, Ahmed SK, Rasool BN, Jamal FK, Mohammed TD, Azeez MA

How do tumours outside the gastrointestinal tract respond to dietary fibre supplementation?

Asim F, Clarke L, Donnelly E, Jamal FR, Piccicacchi LM, Qadir M, Raja NT, Samadi C, Then CK, Kiltie AE

Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.

Mohajeri A, Vaseghi-Shanjani M, Rosenfeld JA, Yang GX, Lu H, Sharma M, Lin S, Salman A, Waqas M, Sababi Azamian M, Worley KC, Del Bel KL, Kozak FK, Rahmanian R, Biggs CM, Hildebrand KJ, Lalani SR, Nicholas SK, Scott DA, Mostafavi S, van Karnebeek C, Henkelman E, Halparin J, Yang CL, Armstrong L, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Turvey SE, Lehman A

Macrocephaly and developmental delay caused by missense variants in RAB5C.

Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Płoski R, Pienkowski VM, Kłosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Adès L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D, Undiagnosed Diseases Network, van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P

Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors.

McConkie-Rosell A, Spillmann RC, Schoch K, Sullivan JA, Walley N, McDonald M, Undiagnosed Diseases Network, Hooper SR, Shashi V

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.

Shashi V, Schoch K, Ganetzky R, Kranz PG, Sondheimer N, Markert ML, Cope H, Sadeghpour A, Roehrs P, Arbogast T, Muraresku C, Undiagnosed Diseases Network, Tyndall AV, Esser MJ, Woodward KE, Ping-Yee Au B, Parboosingh JS, Lamont RE, Bernier FP, Wright NAM, Benseler SM, Parsons SJ, El-Dairi M, Smith EC, Valdez P, Tennison M, Innes AM, Davis EE

Simultaneous Thoracic Spine Metastatic Melanoma and Pre-existing Prostate Adenocarcinoma: A Unique Case Presentation and Literature Review.

Venkata SA, Hakobyan N, Yadav R, Pokhrel A, Jamal F, Oudit O, Boris A, Kay A

De novo missense variants in phosphatidylinositol kinase PIP5KIÎł underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J, Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B

Risk factors identification of COVID-19 patients with chronic obstructive pulmonary disease: A retrospective study in Punjab-Pakistan.

Hassan MM, Tahir MH, Ameeq M, Jamal F, Mendy JT, Chesneau C

H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.

Borja N, Borjas-Mendoza P, Bivona S, Peart L, Gonzalez J, Johnson BK, Guo S, Yusupov R, Undiagnosed Diseases Network, Bademci G, Tekin M

An Unusual Source of Cerebral Embolism Caused by Lambl's Excrescences.

Hakobyan N, Ilerhunmwuwa N, Wasifuddin M, Jamal F, Zagoruychenko T

De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.

Andrews JC, Mok JW, Kanca O, Jangam S, Tifft C, Macnamara EF, Russell BE, Wang LK, Undiagnosed Diseases Network, Nelson SF, Bellen HJ, Yamamoto S, Malicdan MCV, Wangler MF

Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.

Pujol-GimĂŠnez J, Mirzaa G, Blue EE, Albano G, Miller DE, Allworth A, Bennett JT, Byers PH, Chanprasert S, Chen J, Doherty D, Folta AB, Gillentine MA, Glass I, Hing A, Horike-Pyne M, Leppig KA, Parhin A, Ranchalis J, Raskind WH, Rosenthal EA, Schwarze U, Sheppeard S, Strohbehn S, Sybert VP, Timms A, Wener M, University of Washington Center for Mendelian Genomics (UW-CMG)a, Undiagnosed Diseases Network (UDN), Bamshad MJ, Hisama FM, Jarvik GP, Dipple KM, Hediger MA, Stergachis AB