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Page 1
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Among authors: banka s. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group; Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND; Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortia. Matalonga L, et al. Eur J Hum Genet. 2021 Sep;29(9):1337-1347. doi: 10.1038/s41431-021-00852-7. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075210 Free PMC article.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein Tobias B Haack U, Heinritz W, Matzker E, Alhaddad B, Jamra RA, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R; Genomics England Research Consortium; Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB. Paul MS, et al. Among authors: banka s. Am J Hum Genet. 2023 Mar 2;110(3):548. doi: 10.1016/j.ajhg.2023.02.010. Am J Hum Genet. 2023. PMID: 36868207 Free PMC article. No abstract available.
Global Practice Patterns and Variations in the Medical and Surgical Management of Non-Obstructive Azoospermia: Results of a World-Wide Survey, Guidelines and Expert Recommendations.
Rambhatla A, Shah R, Ziouziou I, Kothari P, Salvio G, Gul M, Hamoda T, Kavoussi P, Atmoko W, Toprak T, Birowo P, Ko E, Arafa M, Ghayda RA, Karthikeyan VS, Russo GI, Pinggera GM, Chung E, Harraz AM, Martinez M, Phuoc NHV, Tadros N, Saleh R, Savira M, Colpi GM, Zohdy W, Pescatori E, Park HJ, Fukuhara S, Tsujimura A, Rojas-Cruz C, Marino A, Mak SK, Amar E, Ibrahim W, Sindhwani P, Alhathal N, Busetto GM, Al Hashimi M, El-Sakka A, Ramazan A, Dimitriadis F, Timpano M, Jezek D, Altay B, Zylbersztejn DS, Wong MY, Moon DG, Wyns C, Gamidov S, Akhavizadegan H, Franceschelli A, Aydos K, Quang N, Ashour S, Al Dayel A, Al-Marhoon MS, Micic S, Binsaleh S, Hussein A, Elbardisi H, Mostafa T, Ramsay J, Zachariou A, Abdelrahman IFS, Rajmil O, Kalkanli A, Molina JMC, Bocu K, Duarsa GWK, Çeker G, Serefoglu EC, Bahar F, Gherabi N, Kuroda S, Bouzouita A, Gudeloglu A, Ceyhan E, Hasan MSM, Musa MU, Motawi A, Cho CL, Taniguchi H, Ho CCK, Vazquez JFS, Mutambirwa S, Gungor ND, Bendayan M, Giulioni C, Baser A, Falcone M, Boeri L, Blecher G, Kheradmand A, Sethupathy T, Adriansjah R, Narimani N, Konstantinidis C, Nguyen TT, Japari A, Dolati P, Singh K, Ozer C, Sarikaya S, Sheibak N, Bosco NJ, Özkent MS, Le ST, … See abstract for full author list ➔ Rambhatla A, et al. Among authors: banka sr. World J Mens Health. 2024 Apr 4. doi: 10.5534/wjmh.230339. Online ahead of print. World J Mens Health. 2024. PMID: 38606867 Free article.
Global Practice Patterns in the Evaluation of Non-Obstructive Azoospermia: Results of a World-Wide Survey and Expert Recommendations.
Shah R, Rambhatla A, Atmoko W, Martinez M, Ziouziou I, Kothari P, Tadros N, Phuoc NHV, Kavoussi P, Harraz A, Salvio G, Gul M, Hamoda T, Toprak T, Birowo P, Ko E, Arafa M, Ghayda RA, Karthikeyan VS, Saleh R, Russo GI, Pinggera GM, Chung E, Savira M, Colpi GM, Zohdy W, Pescatori E, Park HJ, Fukuhara S, Tsujimura A, Rojas-Cruz C, Marino A, Mak SK, Amar E, Ibrahim W, Sindhwani P, Alhathal N, Busetto GM, Al Hashimi M, El-Sakka A, Ramazan A, Dimitriadis F, Timpano M, Jezek D, Altay B, Zylbersztejn DS, Wong MY, Moon DG, Wyns C, Gamidov S, Akhavizadegan H, Franceschelli A, Aydos K, Quang VN, Ashour S, Al Dayel A, Al-Marhoon MS, Micic S, Binsaleh S, Hussein A, Elbardisi H, Mostafa T, Taha E, Ramsay J, Zachariou A, Abdelrahman IFS, Rajmil O, Kalkanli A, Molina JMC, Bocu K, Duarsa GWK, Ceker G, Serefoglu EC, Bahar F, Gherabi N, Kuroda S, Bouzouita A, Gudeloglu A, Ceyhan E, Hasan MSM, Musa MU, Motawi A, Chak-Lam C, Taniguchi H, Ho CCK, Vazquez JFS, Mutambirwa S, Gungor ND, Bendayan M, Giulioni C, Baser A, Falcone M, Boeri L, Blecher G, Kheradmand A, Sethupathy T, Adriansjah R, Narimani N, Konstantinidis C, Nguyen TT, Japari A, Dolati P, Singh K, Ozer C, Sarikaya S, Sheibak N, Bosco NJ, Özkent… See abstract for full author list ➔ Shah R, et al. Among authors: banka sr. World J Mens Health. 2024 Apr 3. doi: 10.5534/wjmh.230333. Online ahead of print. World J Mens Health. 2024. PMID: 38606865 Free article.
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Haghshenas S, Bout HJ, Schijns JM, Levy MA, Kerkhof J, Bhai P, McConkey H, Jenkins ZA, Williams EM, Halliday BJ, Huisman SA, Lauffer P, de Waard V, Witteveen L, Banka S, Brady AF, Galazzi E, van Gils J, Hurst ACE, Kaiser FJ, Lacombe D, Martinez-Monseny AF, Fergelot P, Monteiro FP, Parenti I, Persani L, Santos-Simarro F, Simpson BN; MKHK Research Consortium; Alders M, Robertson SP, Sadikovic B, Menke LA. Haghshenas S, et al. Among authors: banka s. HGG Adv. 2024 Mar 29;5(3):100287. doi: 10.1016/j.xhgg.2024.100287. Online ahead of print. HGG Adv. 2024. PMID: 38553851 Free PMC article.
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Shepherdson JL, Hutchison K, Don DW, McGillivray G, Choi TI, Allan CA, Amor DJ, Banka S, Basel DG, Buch LD, Carere DA, Carroll R, Clayton-Smith J, Crawford A, Dunø M, Faivre L, Gilfillan CP, Gold NB, Gripp KW, Hobson E, Holtz AM, Innes AM, Isidor B, Jackson A, Katsonis P, Amel Riazat Kesh L; Genomics England Research Consortium; Küry S, Lecoquierre F, Lockhart P, Maraval J, Matsumoto N, McCarrier J, McCarthy J, Miyake N, Moey LH, Németh AH, Østergaard E, Patel R, Pope K, Posey JE, Schnur RE, Shaw M, Stolerman E, Taylor JP, Wadman E, Wakeling E, White SM, Wong LC, Lupski JR, Lichtarge O, Corbett MA, Gecz J, Nicolet CM, Farnham PJ, Kim CH, Shinawi M. Shepherdson JL, et al. Among authors: banka s. Am J Hum Genet. 2024 Mar 7;111(3):487-508. doi: 10.1016/j.ajhg.2024.01.007. Epub 2024 Feb 6. Am J Hum Genet. 2024. PMID: 38325380
186 results