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Items: 1 to 20 of 70

1.

A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss.

Kari E, Llaci L, Go JL, Naymik M, Knowles JA, Leal SM, Rangasamy S, Huentelman MJ, Friedman RA, Schrauwen I.

Mol Genet Genomic Med. 2019 Oct 8:e995. doi: 10.1002/mgg3.995. [Epub ahead of print]

2.

A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes.

Lindquist NR, Appelbaum EN, Acharya A, Vrabec JT, Leal SM, Schrauwen I.

Case Rep Genet. 2019 Jul 22;2019:2836263. doi: 10.1155/2019/2836263. eCollection 2019.

3.

Family history of Alzheimer's disease alters cognition and is modified by medical and genetic factors.

Talboom JS, HÃ¥berg A, De Both MD, Naymik MA, Schrauwen I, Lewis CR, Bertinelli SF, Hammersland C, Fritz MA, Myers AJ, Hay M, Barnes CA, Glisky E, Ryan L, Huentelman MJ.

Elife. 2019 Jun 18;8. pii: e46179. doi: 10.7554/eLife.46179.

4.

Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry.

Chakchouk I, Zhang D, Zhang Z, Francioli LC, Santos-Cortez RLP, Schrauwen I, Leal SM.

Eur J Hum Genet. 2019 Sep;27(9):1456-1465. doi: 10.1038/s41431-019-0417-2. Epub 2019 May 3.

PMID:
31053783
5.

Heterozygosity mapping for human dominant trait variants.

Imai-Okazaki A, Li Y, Horpaopan S, Riazalhosseini Y, Garshasbi M, Mosse YP, Zhang D, Schrauwen I, Sharma A, Fann CSJ, Leal SM, Lathrop M, Ott J.

Hum Mutat. 2019 Jul;40(7):996-1004. doi: 10.1002/humu.23765. Epub 2019 Apr 24.

6.

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.

Ullah I, Kakar N, Schrauwen I, Hussain S, Chakchouk I, Liaqat K, Acharya A, Wasif N, Santos-Cortez RLP, Khan S, Aziz A, Lee K, Couthouis J, Horn D, Kragesteen BK, Spielmann M, Thiele H, Nickerson DA, Bamshad MJ, Gitler AD, Ahmad J, Ansar M, Borck G, Ahmad W, Leal SM.

Hum Genet. 2019 Jun;138(6):593-600. doi: 10.1007/s00439-019-02000-0. Epub 2019 Apr 13.

PMID:
30982135
7.

Insufficient evidence for a role of SERPINF1 in otosclerosis.

Valgaeren H, Sommen M, Beyens M, Vandeweyer G, Schrauwen I, Schepers A, Schatteman I, Topsakal V, Dhooge I, Kunst H, Zanetti D, Huber AM, Hoischen A, Fransen E, Van Camp G.

Mol Genet Genomics. 2019 Aug;294(4):1001-1006. doi: 10.1007/s00438-019-01558-8. Epub 2019 Apr 9.

PMID:
30968248
8.

Exome Sequencing of Two Siblings with Sporadic Autism Spectrum Disorder and Severe Speech Sound Disorder Suggests Pleiotropic and Complex Effects.

Peter B, Dinu V, Liu L, Huentelman M, Naymik M, Lancaster H, Vose C, Schrauwen I.

Behav Genet. 2019 Jul;49(4):399-414. doi: 10.1007/s10519-019-09957-8. Epub 2019 Apr 4.

PMID:
30949922
9.

Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma.

Schrauwen I, Melegh BI, Chakchouk I, Acharya A, Nasir A, Poston A, Cornejo-Sanchez DM, Szabo Z, Karosi T, Bene J, Melegh B, Leal SM.

Eur J Hum Genet. 2019 Jun;27(6):869-878. doi: 10.1038/s41431-019-0372-y. Epub 2019 Mar 14.

PMID:
30872814
10.

Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance.

Liaqat K, Schrauwen I, Raza SI, Lee K, Hussain S, Chakchouk I, Nasir A, Acharya A, Abbe I, Umair M, Ansar M, Ullah I, Shah K; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Ahmad W, Leal SM.

J Hum Genet. 2019 Feb;64(2):153-160. doi: 10.1038/s10038-018-0542-8. Epub 2018 Nov 30.

PMID:
30498240
11.

Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.

Faridi R, Tona R, Brofferio A, Hoa M, Olszewski R, Schrauwen I, Assir MZK, Bandesha AA, Khan AA, Rehman AU, Brewer C, Ahmed W, Leal SM, Riazuddin S, Boyden SE, Friedman TB.

Hum Mutat. 2019 Feb;40(2):162-176. doi: 10.1002/humu.23689. Epub 2018 Dec 12.

PMID:
30461122
12.

FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.

Schrauwen I, Giese AP, Aziz A, Lafont DT, Chakchouk I, Santos-Cortez RLP, Lee K, Acharya A, Khan FS, Ullah A, Nickerson DA, Bamshad MJ, Ali G, Riazuddin S, Ansar M, Ahmad W, Ahmed ZM, Leal SM.

J Bone Miner Res. 2019 Feb;34(2):375-386. doi: 10.1002/jbmr.3594. Epub 2018 Nov 5.

13.

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.

Richard EM, Santos-Cortez RLP, Faridi R, Rehman AU, Lee K, Shahzad M, Acharya A, Khan AA, Imtiaz A, Chakchouk I, Takla C, Abbe I, Rafeeq M, Liaqat K, Chaudhry T, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics, Schrauwen I, Khan SN, Morell RJ, Zafar S, Ansar M, Ahmed ZM, Ahmad W, Riazuddin S, Friedman TB, Leal SM, Riazuddin S.

Hum Mutat. 2019 Jan;40(1):53-72. doi: 10.1002/humu.23666. Epub 2018 Nov 18.

PMID:
30303587
14.

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis.

Schrauwen I, Valgaeren H, Tomas-Roca L, Sommen M, Altunoglu U, Wesdorp M, Beyens M, Fransen E, Nasir A, Vandeweyer G, Schepers A, Rahmoun M, van Beusekom E, Huentelman MJ, Offeciers E, Dhooghe I, Huber A, Van de Heyning P, Zanetti D, De Leenheer EMR, Gilissen C, Hoischen A, Cremers CW, Verbist B, de Brouwer APM, Padberg GW, Pennings R, Kayserili H, Kremer H, Van Camp G, van Bokhoven H.

Genet Med. 2019 May;21(5):1199-1208. doi: 10.1038/s41436-018-0300-5. Epub 2018 Oct 5.

PMID:
30287925
15.

Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa.

Latif Z, Chakchouk I, Schrauwen I, Lee K, Santos-Cortez RLP, Abbe I, Acharya A, Jarral A, Ali I, Ullah E, Khan MN, Ali G, Tahir TH, Bamshad MJ, Nickerson DA, Ahmad W, Ansar M, Leal SM; University of Washington Center for Mendelian Genomics (UWCMG) Study Group.

Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4552-4557. doi: 10.1167/iovs.18-23849.

16.

Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment.

Liaqat K, Chiu I, Lee K, Chakchouk I, Andrade-Elizondo PB, Santos-Cortez RLP, Hussain S, Nawaz S, Ansar M, Khan MN, Basit S, Schrauwen I, Ahmad W, Leal SM.

J Hum Genet. 2018 Nov;63(11):1099-1107. doi: 10.1038/s10038-018-0502-3. Epub 2018 Sep 3.

17.

Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.

Santos-Cortez RLP, Khan V, Khan FS, Mughal ZU, Chakchouk I, Lee K, Rasheed M, Hamza R, Acharya A, Ullah E, Saqib MAN, Abbe I, Ali G, Hassan MJ, Khan S, Azeem Z, Ullah I, Bamshad MJ, Nickerson DA, Schrauwen I, Ahmad W, Ansar M, Leal SM.

Hum Genet. 2018 Sep;137(9):735-752. doi: 10.1007/s00439-018-1928-6. Epub 2018 Aug 22.

18.

A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype.

Balak C, Belnap N, Ramsey K, Joss S, Devriendt K, Naymik M, Jepsen W, Siniard AL, Szelinger S, Parker ME, Richholt R, Izatt T, LaFleur M, Terraf P, Llaci L, De Both M, Piras IS, Rangasamy S, Schrauwen I, Craig DW, Huentelman M, Narayanan V.

Am J Med Genet A. 2018 Jul;176(7):1549-1558. doi: 10.1002/ajmg.a.38712.

PMID:
30160831
19.

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment.

Schrauwen I, Chakchouk I, Acharya A, Liaqat K, Irfanullah; University of Washington Center for Mendelian Genomics, Nickerson DA, Bamshad MJ, Shah K, Ahmad W, Leal SM.

BMC Med Genet. 2018 Jul 20;19(1):122. doi: 10.1186/s12881-018-0618-5.

20.

A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment.

Schrauwen I, Chakchouk I, Liaqat K, Jan A, Nasir A, Hussain S, Nickerson DA, Bamshad MJ, Ullah A, Ahmad W, Leal SM.

Hum Genet. 2018 Jul;137(6-7):471-478. doi: 10.1007/s00439-018-1899-7. Epub 2018 Jul 3.

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