Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

69 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.
Fokstuen S, Makrythanasis P, Hammar E, Guipponi M, Ranza E, Varvagiannis K, Santoni FA, Albarca-Aguilera M, Poleggi ME, Couchepin F, Brockmann C, Mauron A, Hurst SA, Moret C, Gehrig C, Vannier A, Bevillard J, Araud T, Gimelli S, Stathaki E, Paoloni-Giacobino A, Bottani A, Sloan-Béna F, Sizonenko LD, Mostafavi M, Hamamy H, Nouspikel T, Blouin JL, Antonarakis SE. Fokstuen S, et al. Among authors: ranza e. Hum Genomics. 2016 Jun 28;10(1):24. doi: 10.1186/s40246-016-0080-4. Hum Genomics. 2016. PMID: 27353043 Free PMC article. Review.
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.
Lambert N, Dauve C, Ranza E, Makrythanasis P, Santoni F, Sloan-Béna F, Gimelli S, Blouin JL, Guipponi M, Bottani A, Antonarakis SE, Kosel MM, Fluss J, Paoloni-Giacobino A. Lambert N, et al. Among authors: ranza e. J Hum Genet. 2018 Jul;63(7):847-850. doi: 10.1038/s10038-018-0459-2. Epub 2018 May 1. J Hum Genet. 2018. PMID: 29717186
Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.
Ansar M, Chung HL, Taylor RL, Nazir A, Imtiaz S, Sarwar MT, Manousopoulou A, Makrythanasis P, Saeed S, Falconnet E, Guipponi M, Pournaras CJ, Ansari MA, Ranza E, Santoni FA, Ahmed J, Shah I, Gul K, Black GC, Bellen HJ, Antonarakis SE. Ansar M, et al. Among authors: ranza e. Am J Hum Genet. 2018 Oct 4;103(4):568-578. doi: 10.1016/j.ajhg.2018.09.004. Am J Hum Genet. 2018. PMID: 30290152 Free PMC article.
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
Ansar M, Paracha SA, Serretti A, Sarwar MT, Khan J, Ranza E, Falconnet E, Iwaszkiewicz J, Shah SF, Qaisar AA, Santoni FA, Zoete V, Megarbane A, Ahmed J, Colombo R, Makrythanasis P, Antonarakis SE. Ansar M, et al. Among authors: ranza e. Hum Mol Genet. 2019 Mar 15;28(6):972-979. doi: 10.1093/hmg/ddy406. Hum Mol Genet. 2019. PMID: 30481285 Free PMC article.
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network; Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B. Burrage LC, et al. Among authors: ranza e. Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14. Am J Hum Genet. 2019. PMID: 30773277 Free PMC article.
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.
Ansar M, Ullah F, Paracha SA, Adams DJ, Lai A, Pais L, Iwaszkiewicz J, Millan F, Sarwar MT, Agha Z, Shah SF, Qaisar AA, Falconnet E, Zoete V, Ranza E, Makrythanasis P, Santoni FA, Ahmed J, Katsanis N, Walsh C, Davis EE, Antonarakis SE. Ansar M, et al. Among authors: ranza e. Am J Hum Genet. 2019 Jun 6;104(6):1073-1087. doi: 10.1016/j.ajhg.2019.04.002. Epub 2019 May 9. Am J Hum Genet. 2019. PMID: 31079899 Free PMC article.
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
Ansar M, Chung HL, Al-Otaibi A, Elagabani MN, Ravenscroft TA, Paracha SA, Scholz R, Abdel Magid T, Sarwar MT, Shah SF, Qaisar AA, Makrythanasis P, Marcogliese PC, Kamsteeg EJ, Falconnet E, Ranza E, Santoni FA, Aldhalaan H, Al-Asmari A, Faqeih EA, Ahmed J, Kornau HC, Bellen HJ, Antonarakis SE. Ansar M, et al. Among authors: ranza e. Am J Hum Genet. 2019 Nov 7;105(5):907-920. doi: 10.1016/j.ajhg.2019.09.013. Epub 2019 Oct 10. Am J Hum Genet. 2019. PMID: 31607425 Free PMC article.
69 results