Contact - Zakład Genetyki Medycznej IMiD

Department of Medical Genetics:

tel.: 4822 32 77 361
fax: 4822 32 77 200
e-mail: sekretariat.genetyki@imid.med.pl

Genetic Counselling Unit:

tel.: 4822 32 77 361 or 180

Cytogenetics Unit:

tel.: 4822 32 77 131
e-mail: beata.nowakowska@imid.med.pl

Molecular Genetics Unit :

tel.: 4822 32 77 177 or 299 or 176 or 313
e-mail: katarzyna.wertheim@imid.med.pl
e-mail: pawel.gawlinski@imid.med.pl
e-mail: monika.gos@imid.med.pl
e-mail: dorota.hoffman@imid.med.pl

Bank account number for commercial charges:
ALIOR BANK 81 2490 0005 0000 4600 8807 9430

Adress:

Zakład Genetyki Medycznej
Instytut Matki i Dziecka
ul. Kasprzaka 17A
01-211 Warszawa
Polska

Departament of Medical Genetics
Institute of Mother and Child
Kasprzaka 17A
01-211 Warsaw
Poland

Bieżące publikacje:

Podręcznik Genetyka medyczna i molekularna Jerzy Bal

genetyka_med_2023

Zespół-łamliwego-chromosomu-X

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Charzewska A, Terczyńska I, Lipiec A, Mazurczak T, Górka-Skoczylas P, Szlendak R, Kanabus K, Tataj R, Dawidziuk M, Wojtaś B, Gielniewski B, Bal J, Stawicka E, Hoffman-Zacharska D (2023) Genetic risk factors for neurological disorders in children with adverse events following immunization: a descriptive study of Polish case series. Int J Mol Sci 24(2):1117. doi: 10.3390/ijms24021117. (IF=6.208) (MNiSW= 140)

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Zayat V, Kuczynska Z, Liput M, Metin E, Rzońca-Niewczas S, Smyk M, Mazurczak T, Goszczanska-Ciuchta A, Hoffman-Zacharska D, Buzanska L (2023) Generation of ventral forebrain organoids from human induced pluripotent stem cell lines derived from patients with distinct SCN1A mutations. Cells 12(2):339. doi: 10.3390/cells12020339. (IF=7.66) (MNiSW= 140)

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Leonardi E, Aspromonte MC, Drongitis D, Bettella E, Verrillo L, Polli R, McEntagart M, Licchetta L, Dilena R, D'Arrigo S, Ciaccio C, Esposito S, Leuzzi V, Torella A, Baldo D, Lonardo F, Bonato G, Pellegrin S, Stanzial F, Posmyk R, Kaczorowska E, Carecchio M, Gos M, Rzońca-Niewczas S, Miano MG, Murgia A (2023) Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants. Eur J Hum Genet. 31(2):202-215. (IF=5,351 ) (MNiSW=100)

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Calame DG; GuoT, Wang Ch, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM; Herman I; Du H; Mitani T; Becker L, Rathkolb B, Seisenberger C, Marschall S, Hunter JV; Gerard A, Heidlebaugh A; Challman T, Spillmann R; Jhangiani SN, Coban-Akdemir Z, Lalani S, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N; Rondeau S; Clothide O; Barcia G; Tan QKG, Thiffault I, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, Østergaard E, Nazaryan-Petersen L, Undiagnosed Diseases Network, Torti E, Thevenon J, Bruel A-L, Thauvin-Robinet C, Popp D, Platzer K, Mokry J, Gawlinski P, Wiszniewski W, Marafi D; Pehlivan D; Posey JE; Gibbs RA; Gailus-Durner V; Guerrini R, Fuchs H, de Angelis MH, Hölter SM, Cheung H-H, Gu S, Lupski JR (2023) Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. Am J Hum Genet S0002-110(8):1394-1413 (IF=11,043) (MNiSW=200)

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Werren EA, Guxholli A, Orenstein N, Narayanan V, Rafiullah R, Dawidziuk M, Wiszniewski W, Gawlinski P, Umair M, Khan A, Genevieve D, Lehalle D, van Gassen KLI, Giltay JC, Rappold GA, University of Washington Center for Mendelian Genomics (Keegan CE, Bielas SL, Srivastava A (2023). Biallelic variants in CSMD1 cause neurodevelopmental defects and intellectual disability. Genetics in Medicine. (IF=8,822) (MNiSW=200)

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Wertheim-Tysarowska K, Osipowicz K, Gielniewski B, Wojtaś B, Szabelska-Beręsewicz A, Zyprych-Walczak J, Mika A, Tysarowski A, Duk K, Rygiel AM, Niepokój K, Woźniak K, Kowalewski C, Wierzba J, Jezela-Stanek A (2023) The epidermal transcriptome analysis of a novel c.639_642dup LORICRIN variant - delineation of the loricrin keratoderma pathology. Int J Mol Sci 9;24(11):9459. doi: 10.3390/ijms24119459 (IF=6,208 ) (MNiSW=140)

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Bonardi CM, Møller RS, Ruiz-Reig N, Chai G, Madsen CG, Bayat A, Hammer TB, Fenger CD, Gardella E, Gawlinski P, Dawidziuk M, Wiszniewski W, Rossi M, Lesca G, Gouy E, Jepsen B, Mieszczanek TS, Aittaleb M, Brusgaard K, Tissir F, Rubboli G (2023) Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental delay, and epilepsy in humans. Journal of Clinical Investigation (IF = 19.477) (MNiSW= 200)

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Bielas S, Werren E, Guxholli A, Orenstein N, Narayanan, Rafiullah R, Dawidziuk M, Wiszniewski W, Gawlinski P, Umair M, Khan A, Genevieve D, Lehalle D, Giltay J, van Gassen KLI, Rappold G, Keegan C, Srivastava A (2023) Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations. Cell Death & Disease (IF = 9,696) (MNiSW=140)

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Freud LR, Galloway S, Crowley TB, Moldenhauer J, Swillen A, Breckpot J, Borrell A, Vora NL, Cuneo B, Hoffman H, Gilbert L, Nowakowska B, Geremek M, Kutkowska-Kaźmierczak A, Vermeesch JR, Devriendt K, Busa T, Sigaudy S, Vigneswaran T, Simpson JM, Dungan J, Gotteiner N, Gloning KP, Digilio MC, Unolt M, Putotto C, Marino B, Repetto G, Fadic M, Garcia-Minaur S, Achón Buil A, Thomas MA, Fruitman D, Beecroft T, Hui PW, Oskarsdottir S, Bradshaw R, Criebaum A, Norton ME, Lee T, Geiger M, Dunnington L, Isaac J, Wilkins-Haug L, Hunter L, Izzi C, Toscano M, Ghi T, McGlynn J, Romana Grati F, Emanuel BS, Gaiser K, Gaynor JW, Goldmuntz E, McGinn DE, Schindewolf E, Tran O, Zackai EH, Yan Q, Bassett AS, Wapner R, McDonald-McGinn DM (2023). Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age. Am J Obstet Gynecol. S0002-9378(23)00611-7. doi: 10.1016/j.ajog.2023.09.005 (IF=10,693) (MNiSW= 140)

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Óskarsdóttir S, Boot E, Crowley TB, Loo JCY, Arganbright JM, Armando M, Baylis AL, Breetvelt EJ, Castelein RM, Chadehumbe M, Cielo CM, de Reuver S, Eliez S, Fiksinski AM, Forbes BJ, Gallagher E, Hopkins SE, Jackson OA, Levitz-Katz L, Klingberg G, Lambert MP, Marino B, Mascarenhas MR, Moldenhauer J, Moss EM, Nowakowska BA, Orchanian-Cheff A, Putotto C, Repetto GM, Schindewolf E, Schneider M, Solot CB, Sullivan KE, Swillen A, Unolt M, Van Batavia JP, Vingerhoets C, Vorstman J, Bassett AS, McDonald-McGinn DM (2023) Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome. Genet Med. 25(3):100338. doi: 0.1016/j.gim.2022.11.006. PMID: 36729053 (IF=8,8) (MNiSW= 200)

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Boot E, Óskarsdóttir S, Loo JCY, Crowley TB, Orchanian-Cheff A, Andrade DM, Arganbright JM, Castelein RM, Cserti-Gazdewich C, de Reuver S, Fiksinski AM, Klingberg G, Lang AE, Mascarenhas MR, Moss EM, Nowakowska BA, Oechslin E, Palmer L, Repetto GM, Reyes NGD, Schneider M, Silversides C, Sullivan KE, Swillen A, van Amelsvoort TAMJ, Van Batavia JP, Vingerhoets C, McDonald-McGinn DM, Bassett AS (2023) Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome. Genet Med. 25(3):100344. doi: 10.1016/j.gim.2022.11.012. PMID: 36729052 (IF=8,8) (MNiSW= 200)

Department of Medical Genetics:

tel.: 4822 32 77 361fax: 4822 32 77 200e-mail: sekretariat.genetyki@imid.med.pl

Genetic Counselling Unit:

Cytogenetics Unit:

tel.: 4822 32 77 131e-mail: beata.nowakowska@imid.med.pl

Molecular Genetics Unit :

tel.: 4822 32 77 177 or 299 or 176 or 313e-mail: katarzyna.wertheim@imid.med.ple-mail: pawel.gawlinski@imid.med.ple-mail: monika.gos@imid.med.ple-mail: dorota.hoffman@imid.med.pl

Zakład Genetyki MedycznejInstytut Matki i Dzieckaul. Kasprzaka 17A01-211 WarszawaPolska

Departament of Medical GeneticsInstitute of Mother and ChildKasprzaka 17A01-211 WarsawPoland

tel.: 4822 32 77 361
fax: 4822 32 77 200
e-mail: sekretariat.genetyki@imid.med.pl

tel.: 4822 32 77 131
e-mail: beata.nowakowska@imid.med.pl

tel.: 4822 32 77 177 or 299 or 176 or 313
e-mail: katarzyna.wertheim@imid.med.pl
e-mail: pawel.gawlinski@imid.med.pl
e-mail: monika.gos@imid.med.pl
e-mail: dorota.hoffman@imid.med.pl

Zakład Genetyki Medycznej
Instytut Matki i Dziecka
ul. Kasprzaka 17A
01-211 Warszawa
Polska

Departament of Medical Genetics
Institute of Mother and Child
Kasprzaka 17A
01-211 Warsaw
Poland