57. Halas A, Fijak-Moskal J, Kuberska R, Murcia Pienkowski V, Kaniak-Golik A, Pollak A, Poznanski J, Rydzanicz M, Bik-Multanowski M, Sledziewska-Gojska E, Płoski R. Developmental delay with hypotrophy associated with homozygous functionally relevant REV3L variant. J Mol Med (Berl). 2021 Jan 20. doi: 10.1007/s00109-020-02033-3.

56. Riedhammer KM, Stockler S, Ploski R, Wenzel M, Adis-Dutschmann B, Ahting U, Alhaddad B, Blaschek A, Haack TB, Kopajtich R, Lee JY, Murcia Pienkowski V, Pollak A, Szymanska K, van der Lee R, van Karnebeek CD, Meitinger T, Krägeloh-Mann I, Vill K. De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy. Brain. 2020 Dec 12:awaa410. doi: 10.1093/brain/awaa410.

55. Vig A, Poulter JA, Ottaviani D, Tavares E, Toropova K, Tracewska AM, Mollica A, Kang J, Kehelwathugoda O, Paton T, Maynes JT, Wheway G, Arno G; Genomics England Research Consortium, Khan KN, McKibbin M, Toomes C, Ali M, Di Scipio M, Li S, Ellingford J, Black G, Webster A, Rydzanicz M, Stawiński P, Płoski R, Vincent A, Cheetham ME, Inglehearn CF, Roberts A, Heon E. DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration. Genet Med. 2020 Aug 5. doi: 10.1038/s41436-020-0915-1.

54. Slezak R, Smigiel R, Rydzanicz M, Pollak A, Kosinska J, Stawinski P, Sasiadek M, Ploski R. Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene. Mol Genet Genomic Med. 2020 Jul 24:e1432. doi: 10.1002/mgg3.1432.

53. Śmigiel R, Biela M, Szmyd K, Błoch M, Szmida E, Skiba P, Walczak A, Gasperowicz P, Kosińska J, Rydzanicz M, Stawiński P, Biernacka A, Zielińska M, Gołębiowski W, Jalowska A, Ohia G, Głowska B, Walas W, Królak-Olejnik B, Krajewski P, Sykut-Cegielska J, Sąsiadek MM, Płoski R. Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit. J Clin Med. 2020 Jul 13;9(7):2220. doi: 10.3390/jcm9072220.

52. Stępień-Wojno M, Ponińska J, Biernacka EK, Foss-Nieradko B, Chwyczko T, Syska P, Płoski R, Bilińska ZT. A Recurrent Exertional Syncope and Sudden Cardiac Arrest in a Young Athlete with Known Pathogenic p.Arg420Gln Variant in the RYR2 Gene. Diagnostics (Basel). 2020 Jun 27;10(7):435. doi: 10.3390/diagnostics10070435.

51. Murcia Pienkowski V, Kucharczyk M, Rydzanicz M, Poszewiecka B, Pachota K, Młynek M, Stawiński P, Pollak A, Kosińska J, Wojciechowska K, Lejman M, Cieślikowska A, Wicher D, Stembalska A, Matuszewska K, Materna-Kiryluk A, Gambin A, Chrzanowska K, Krajewska-Walasek M, Płoski R. Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype.
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50. Szczałuba K, Mierzewska H, Śmigiel R, Kosińska J, Koppolu A, Biernacka A, Stawiński P, Pollak A, Rydzanicz M, Płoski R. AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant. J Appl Genet. 2020 May;61(2):213-218. doi: 10.1007/s13353-020-00552-w.

49. Franaszczyk M, Truszkowska G, Chmielewski P, Rydzanicz M, Kosinska J, Rywik T, Biernacka A, Spiewak M, Kostrzewa G, Stepien-Wojno M, Stawinski P, Bilinska M, Krajewski P, Zielinski T, Lutynska A, Bilinska ZT, Ploski R. Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes. J Clin Med. 2020 Jan 29;9(2):370. doi: 10.3390/jcm9020370.

48. Dosekova P, Dubiel A, Karlowicz A, Zietkiewicz S, Rydzanicz M, Habalova V, Pienkowski VM, Skirkova M, Han V, Mosejova A, Gdovinova Z, Kaliszewska M, Tońska K, Szymanski MR, Skorvanek M, Ploski R. Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion. Eur J Med Genet. 2020 Apr;63(4):103821. doi: 10.1016/j.ejmg.2019.103821.

47. Smigiel R, Rozensztrauch A, Walczak A, Rydzanicz M, Stawinski P, Berghausen-Mazur M, Kostrzewa G, Sasiadek M, Ploski R. Changing facial features in a child with GAPO syndrome caused by novel mutation in the ANTXR1 gene and uniparental disomy of chromosome 2. Clin Dysmorphol. 2019 Oct;28(4):211-214. doi: 10.1097/MCD.0000000000000292.

46. Krenke K, Szczałuba K, Bielecka T, Rydzanicz M, Lange J, Koppolu A, Płoski R. FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects. Clin Genet. 2019 Nov;96(5):468-472. doi: 10.1111/cge.13614.

45. Jakubiuk-Tomaszuk A, Murcia Pienkowski V, Zietkiewicz S, Rydzanicz M, Kosińska J, Stawiński P, Szumiński M, Płoski R. Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interaction. Clin Genet. 2019 Oct;96(4):371-375. doi: 10.1111/cge.13611.

44. Paprocka J, Jezela-Stanek A, Koppolu A, Rydzanicz M, Kosińska J, Stawiński P, Płoski R. FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy. Clin Genet. 2019 Sep;96(3):274-275. doi: 10.1111/cge.13592.

43. Jezela-Stanek A, Murcia PV, Jurkiewicz D, Iwanicka-Pronicka K, Jędrzejowska M, Krajewska-Walasek M, Płoski R. Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype. Clin Dysmorphol. 2019 Jul;28(3):126-130. doi: 10.1097/MCD.0000000000000277.

42. Jezela-Stanek A, Walczak A, Łaźniewski M, Kosińska J, Stawiński P, Murcia Pienkowski V, Biernacka A, Rydzanicz M, Kostrzewa G, Krajewski P, Plewczyński D, Płoski R. Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy. Clin Genet. 2019 Jun;95(6):736-738. doi: 10.1111/cge.13534.

41. Kotlinowski J, Bukowska-Strakova K, Koppolu A, Kosińska J, Pydyn N, Stawinski P, Wilamowski M, Nowak W, Józkowicz A, Baran J, Płoski R, Jura J. A Novel Monoallelic Nonsense Mutation in the NFKB2 Gene Does Not Cause a Clinical Manifestation. Front Genet. 2019 Feb 26;10:140. doi: 10.3389/fgene.2019.00140.

40. Skorvanek M, Dusek P, Rydzanicz M, Walczak A, Kosinska J, Kostrzewa G, Brzozowska M, Han V, Dosekova P, Gdovinova Z, Lehotska Z, Lisowski P, Ploski R. Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype? Parkinsonism Relat Disord. 2019 May;62:239-241. doi: 10.1016/j.parkreldis.2019.01.017.

39. Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M; Deciphering Developmental Disorders Study; University of Washington Center for Mendelian Genomics, Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2019 Feb 7;104(2):319-330. doi: 10.1016/j.ajhg.2018.12.007.

38. Krygier M, Kwarciany M, Wasilewska K, Pienkowski VM, Krawczyńska N, Zielonka D, Kosińska J, Stawinski P, Rudzińska-Bar M, Boczarska-Jedynak M, Karaszewski B, Limon J, Sławek J, Płoski R, Rydzanicz M. A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene. Clin Genet. 2019 Mar;95(3):415-419. doi: 10.1111/cge.13489.

37. Murcia Pienkowski V, Kucharczyk M, Młynek M, Szczałuba K, Rydzanicz M, Poszewiecka B, Skórka A, Sykulski M, Biernacka A, Koppolu AA, Posmyk R, Walczak A, Kosińska J, Krajewski P, Castaneda J, Obersztyn E, Jurkiewicz E, Śmigiel R, Gambin A, Chrzanowska K, Krajewska-Walasek M, Płoski R. Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders. J Med Genet. 2019 Feb;56(2):104-112. doi: 10.1136/jmedgenet-2018-105527.

36. Midro AT, Stasiewicz-Jarocka B, Borys J, Kozłowski K, Skotnicka B, Tarasów E, Hubert E, Konstantynowicz J, Panasiuk B, Rydzanicz M, Pollak A, Stawiński P, Skowroński R, Płoski R. A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation. Am J Med Genet A. 2018 Nov;176(11):2382-2388. doi: 10.1002/ajmg.a.40431.

35. Rydzanicz M, Wachowska M, Cook EC, Lisowski P, Kuźniewska B, Szymańska K, Diecke S, Prigione A, Szczałuba K, Szybińska A, Koppolu A, Murcia Pienkowski V, Kosińska J, Wiweger M, Kostrzewa G, Brzozowska M, Domańska-Pakieła D, Jurkiewicz E, Stawiński P, Gromadka A, Zielenkiewicz P, Demkow U, Dziembowska M, Kuźnicki J, Creamer TP, Płoski R. Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression. Eur J Hum Genet. 2019 Jan;27(1):61-69. doi: 10.1038/s41431-018-0254-8.

34. Szczałuba K, Chmielewska JJ, Sokolowska O, Rydzanicz M, Szymańska K, Feleszko W, Włodarski P, Biernacka A, Murcia Pienkowski V, Walczak A, Bargeł E, Królewczyk K, Nowacka A, Stawiński P, Nowis D, Dziembowska M, Płoski R. Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines. Clin Genet. 2018 Dec;94(6):581-585. doi: 10.1111/cge.13450.

33. Smigiel R, Sherman DL, Rydzanicz M, Walczak A, Mikolajkow D, Krolak-Olejnik B, Kosinska J, Gasperowicz P, Biernacka A, Stawinski P, Marciniak M, Andrzejewski W, Boczar M, Krajewski P, Sasiadek MM, Brophy PJ, Ploski R. Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia. Hum Mol Genet. 2018 Nov 1;27(21):3669-3674. doi: 10.1093/hmg/ddy277.

32. Pilch J, Koppolu AA, Walczak A, Murcia Pienkowski VA, Biernacka A, Skiba P, Machnik-Broncel J, Gasperowicz P, Kosińska J, Rydzanicz M, Emich-Widera E, Płoski R. Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation. Clin Genet. 2018 Oct;94(3-4):381-385. doi: 10.1111/cge.13410.

31. Smigiel R, Landsberg G, Schilling M, Rydzanicz M, Pollak A, Walczak A, Stodolak A, Stawinski P, Mierzewska H, Sasiadek MM, Gruss OJ, Ploski R. Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs. Eur J Hum Genet. 2018 Oct;26(10):1502-1511. doi: 10.1038/s41431-018-0179-2.

30. Pesz K, Pienkowski VM, Pollak A, Gasperowicz P, Sykulski M, Kosińska J, Kiszko M, Krzykwa B, Bartnik-Głaska M, Nowakowska B, Rydzanicz M, Sasiadek MM, Płoski R. Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15. Eur J Med Genet. 2018 Oct;61(10):596-601. doi: 10.1016/j.ejmg.2018.03.013.

29. Kutkowska-Kaźmierczak A, Rydzanicz M, Chlebowski A, Kłosowska-Kosicka K, Mika A, Gruchota J, Jurkiewicz E, Kowalewski C, Pollak A, Stradomska TJ, Kmieć T, Jakubowski R, Gasperowicz P, Walczak A, Śladowski D, Jankowska-Steifer E, Korniszewski L, Kosińska J, Obersztyn E, Nowak W, Śledziński T, Dziembowski A, Płoski R. Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features. J Med Genet. 2018 Jun;55(6):408-414. doi: 10.1136/jmedgenet-2017-105172.

28. Piekutowska-Abramczuk D, Assouline Z, Mataković L, Feichtinger RG, Koňařiková E, Jurkiewicz E, Stawiński P, Gusic M, Koller A, Pollak A, Gasperowicz P, Trubicka J, Ciara E, Iwanicka-Pronicka K, Rokicki D, Hanein S, Wortmann SB, Sperl W, Rötig A, Prokisch H, Pronicka E, Płoski R, Barcia G, Mayr JA. NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. Am J Hum Genet. 2018 Mar 1;102(3):460-467. doi: 10.1016/j.ajhg.2018.01.008.

27. Smigiel R, Biernacka A, Biela M, Murcia-Pienkowski V, Szmida E, Gasperowicz P, Kosinska J, Kostrzewa G, Koppolu AA, Walczak A, Wawrzuta D, Rydzanicz M, Sasiadek M, Ploski R. Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome. J Hum Genet. 2018 Apr;63(4):517-520. doi: 10.1038/s10038-017-0391-x.

26. Matuszewska KE, Badura-Stronka M, Śmigiel R, Cabała M, Biernacka A, Kosinska J, Rydzanicz M, Winczewska-Wiktor A, Sasiadek M, Latos-Bieleńska A, Żemojtel T, Płoski R. Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene. Clin Dysmorphol. 2018 Apr;27(2):49-52. doi: 10.1097/MCD.0000000000000212.

25. Szczałuba K, Szymańska K, Rydzanicz M, Ciara E, Walczak A, Piekutowska-Abramczuk D, Kosińska J, Jacoszek A, Czerska K, Biernacka A, Laure-Kamionowska M, Gasperowicz P, Pronicka E, Płoski R. A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa. Clin Genet. 2018 May;93(5):1107-1108. doi: 10.1111/cge.13133.

24. Szczałuba K, Biernacka A, Szymańska K, Gasperowicz P, Kosińska J, Rydzanicz M, Płoski R. Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review. Eur J Med Genet. 2018 Mar;61(3):157-160. doi: 10.1016/j.ejmg.2017.11.010.

23. Smigiel R, Biela M, Biernacka A, Stembalska A, Sasiadek M, Kosinska J, Rydzanicz M, Ploski R. New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation. Clin Genet. 2017 Dec;92(6):671-673. doi: 10.1111/cge.13080.

22. Koppolu AA, Madej-Pilarczyk A, Rydzanicz M, Kosińska J, Gasperowicz P, Dorszewska J, Kozubski W, Steinborn B, Kochański AM, Płoski R. A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation. Folia Neuropathol. 2017;55(3):214-220. doi: 10.5114/fn.2017.70486.

21. Kalinska-Bienias A, Pollak A, Kowalewski C, Lechowicz U, Stawinski P, Gergont A, Kosinska J, Pronicka E, Kowalski P, Wozniak K, Ploski R. Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy. Am J Med Genet A. 2017 Nov;173(11):3093-3097. doi: 10.1002/ajmg.a.38403.

20. Kremer LS, Danhauser K, Herebian D, Petkovic Ramadža D, Piekutowska-Abramczuk  D, Seibt A, Müller-Felber W, Haack TB, Płoski R, Lohmeier K, Schneider D, Klee D, Rokicki D, Mayatepek E, Strom TM, Meitinger T, Klopstock T, Pronicka E, Mayr JA,  Baric I, Distelmaier F, Prokisch H. NAXE Mutations Disrupt the Cellular NAD(P)HX  Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood. Am J Hum Genet. 2016 Oct 6;99(4):894-902.

19. Smigiel R, Kostrzewa G, Kosinska J, Pollak A, Stawinski P, Szmida E, Bloch M,  Szymanska K, Karpinski P, Sasiadek MM, Ploski R. Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy. Am J Med Genet A. 2016  Sep 8.

18. Rydzanicz M, Jagła M, Kosinska J, Tomasik T, Sobczak A, Pollak A, Herman-Sucharska I, Walczak A, Kwinta P, Płoski R. KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy. Clin Genet. 2016 Jul 14.

17. Szczałuba K, Brzezinska M, Kot J, Rydzanicz M, Walczak A, Stawiński P, Werner  B, Płoski R. SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression. Am J Med Genet A. 2016 Sep;170(9):2322-7.

16. Alston CL, Compton AG, Formosa LE, Strecker V, Oláhová M, Haack TB, Smet J, Stouffs K, Diakumis P, Ciara E, Cassiman D, Romain N, Yarham JW, He L, De Paepe B, Vanlander AV, Seneca S, Feichtinger RG, Płoski R, Rokicki D, Pronicka E, Haller RG, Van Hove JL, Bahlo M, Mayr JA, Van Coster R, Prokisch H, Wittig I, Ryan MT, Thorburn DR, Taylor RW. Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. Am J Hum Genet. 2016 Jul 7;99(1):217-27. 

15. Lenk GM, Szymanska K, Debska-Vielhaber G, Rydzanicz M, Walczak A, Bekiesinska-Figatowska M, Vielhaber S, Hallmann K, Stawinski P, Buehring S, Hsu DA, Kunz WS, Meisler MH, Ploski R. Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease. Am J Hum Genet. 2016 Jul 7;99(1):188-94.

14. Pronicka E, Piekutowska-Abramczuk D, Ciara E, Trubicka J, Rokicki D, Karkucińska-Więckowska A, Pajdowska M, Jurkiewicz E, Halat P, Kosińska J, Pollak A, Rydzanicz M, Stawinski P, Pronicki M, Krajewska-Walasek M, Płoski R. New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. J Transl Med. 2016 Jun 12;14(1):174.

13. Poninska JK, Bilinska ZT, Franaszczyk M, Michalak E, Rydzanicz M, Szpakowski E, Pollak A, Milanowska B, Truszkowska G, Chmielewski P, Sioma A, Janaszek-Sitkowska H, Klisiewicz A, Michalowska I, Makowiecka-Ciesla M, Kolsut P, Stawinski P, Foss-Nieradko B, Szperl M, Grzybowski J, Hoffman P, Januszewicz A, Kusmierczyk M, Ploski R. Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype  phenotype correlations. J Transl Med. 2016 May 4;14(1):115.

12. Ciara E, Rokicki D, Halat P, Karkucińska-Więckowska A, Piekutowska-Abramczuk D, Mayr J, Trubicka J, Szymańska-Dębińska T, Pronicki M, Pajdowska M, Dudzińska M, Giżewska M, Krajewska-Walasek M, Książyk J, Sperl W, Płoski R, Pronicka E. Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing. Mol Genet Metab Rep. 2016 Apr 18;7:70-6.

11. Mierzewska H, Rydzanicz M, Biegański T, Kosinska J, Mierzewska-Schmidt M, Ługowska A, Pollak A, Stawiński P, Walczak A, Kędra A, Obersztyn E, Szczepanik E, Płoski R. Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease. Clin Genet. 2016 Apr 22.

10. Szymańska E, Rokicki D, Wątrobinska U, Ciara E, Halat P, Płoski R, Tylki-Szymańka A. Pediatric patient with hyperketotic hypoglycemia diagnosed with glycogen synthase deficiency due to the novel homozygous mutation in GYS2. Mol Genet Metab Rep. 2015 Aug 24;4:83-6.

9. Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Trubicka J, Jurkiewicz E,  Rokicki D, Mierzewska H, Spychalska J, Uhrynowska M, Szwarc-Bronikowska M, Buda P, Said AR, Jamroz E, Rydzanicz M, Płoski R, Krajewska-Walasek M, Pronicka E. Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis-The phenotype of two patients with novel mutations in the PIGN and  PGAP2 genes. Eur J Paediatr Neurol. 2016 May;20(3):462-73.

8. Ścieżyńska A, Oziębło D, Ambroziak AM, Korwin M, Szulborski K, Krawczyński M, Stawiński P, Szaflik J, Szaflik JP, Płoski R, Ołdak M. Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with  retinal dystrophies from Central Europe. Exp Eye Res. 2016 Apr;145:93-9.

7. Zmyslowska A, Borowiec M, Antosik K, Ploski R, Ciechanowska M, Iwaniszewska B, Jakubiuk-Tomaszuk A, Janczyk W, Krawczynski M, Salmonowicz B, Stelmach M, Mlynarski W. Genetic evaluation of patients with Alström syndrome in the Polish population. Clin Genet. 2015 Aug 18.

6. Wortmann SB, Ziętkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek  C, Lillquist Y, Lücke T, Õunap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA,  de Brouwer AP, Prokisch H, Katsanis N, Wevers RA. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability,  congenital neutropenia, cataracts, movement disorder. Am J Hum Genet. 2015 Feb 5;96(2):245-57.

5. Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, Jaunmuktane Z, Saveri P, Rasic VM, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, Laura M, Sweeney MG, Taroni F, Lunn MP, Moroni I, Gonzalez M, Hanna MG, Bettencourt C, Chabrol E, Franke A, von Au K, Schilhabel M, Kabzińska D, Hausmanowa-Petrusewicz I, Brandner S, Lim SC, Song H, Choi BO, Horvath R, Chung KW, Zuchner S, Pareyson D, Harms M, Reilly MM, Houlden H. Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. Am J Hum Genet. 2014 Nov 6;95(5):590-601.

4. Kostera-Pruszczyk A, Kosinska J, Pollak A, Stawinski P, Walczak A, Wasilewska K, Potulska-Chromik A, Szczudlik P, Kaminska A, Ploski R. Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2014 Sep;19(3):242-5.

3. Ołdak M, Ruszkowska E, Pollak A, Sobczyk-Kopcioł A, Kowalewski C, Piwońska A, Drygas W, Płoski R. A note of caution on the diagnosis of Martin-Probst syndrome  by the detection of the p.D59G mutation in the RAB40AL gene. Eur J Pediatr. 2015  May;174(5):693-6.

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1. Ploski R, Pollak A, Müller S, Franaszczyk M, Michalak E, Kosinska J, Stawinski P, Spiewak M, Seggewiss H, Bilinska ZT. Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy? Circ Res. 2014 Jan 17;114(2):e2-5.