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Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.
Published in:
Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03326-8
By:
- Wonkam, Ambroise;
- Adadey, Samuel Mawuli;
- Schrauwen, Isabelle;
- Aboagye, Elvis Twumasi;
- Wonkam-Tingang, Edmond;
- Esoh, Kevin;
- Popel, Kalinka;
- Manyisa, Noluthando;
- Jonas, Mario;
- deKock, Carmen;
- Nembaware, Victoria;
- Cornejo Sanchez, Diana M.;
- Bharadwaj, Thashi;
- Nasir, Abdul;
- Everard, Jenna L.;
- Kadlubowska, Magda K.;
- Nouel-Saied, Liz M.;
- Acharya, Anushree;
- Quaye, Osbourne;
- Amedofu, Geoffrey K.
Publication type:
Article
Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future.
Published in:
Human Genetics, 2022, v. 141, n. 3/4, p. 413, doi. 10.1007/s00439-021-02309-9
By:
- Acharya, Anushree;
- Schrauwen, Isabelle;
- Leal, Suzanne M.
Publication type:
Article
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
Published in:
Human Genetics, 2021, v. 140, n. 7, p. 1011, doi. 10.1007/s00439-021-02268-1
By:
- Järvelä, Irma;
- Määttä, Tuomo;
- Acharya, Anushree;
- Leppälä, Juha;
- Jhangiani, Shalini N.;
- Arvio, Maria;
- Siren, Auli;
- Kankuri-Tammilehto, Minna;
- Kokkonen, Hannaleena;
- Palomäki, Maarit;
- Varilo, Teppo;
- Fang, Mary;
- Hadley, Trevor D.;
- Jolly, Angad;
- Linnankivi, Tarja;
- Paetau, Ritva;
- Saarela, Anni;
- Kälviäinen, Reetta;
- Olme, Jan;
- Nouel-Saied, Liz M.
Publication type:
Article
Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 3, p. 1, doi. 10.1002/mgg3.1866
By:
- Bharadwaj, Thashi;
- Schrauwen, Isabelle;
- Acharya, Anushree;
- Nouel‐Saied, Liz M.;
- Väisänen, Marja‐Leena;
- Kraatari, Minna;
- Rahikkala, Elisa;
- Jarvela, Irma;
- Kotimäki, Jouko;
- Leal, Suzanne M.
Publication type:
Article
Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders.
Published in:
2021
By:
- Kokkonen, Hannaleena;
- Siren, Auli;
- Määttä, Tuomo;
- Kamila Kadlubowska, Magda;
- Acharya, Anushree;
- Nouel‐Saied, Liz M.;
- Leal, Suzanne M.;
- Järvelä, Irma;
- Schrauwen, Isabelle
Publication type:
Case Study
A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes.
Published in:
Case Reports in Genetics, 2019, p. 1, doi. 10.1155/2019/2836263
By:
- Lindquist, Nathan R.;
- Appelbaum, Eric N.;
- Acharya, Anushree;
- Vrabec, Jeffrey T.;
- Leal, Suzanne M.;
- Schrauwen, Isabelle
Publication type:
Article
A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63478
By:
- Salokivi, Tommi;
- Parkkola, Riitta;
- Rajendran, Yasmin;
- Bharadwaj, Thashi;
- Acharya, Anushree;
- Leal, Suzanne M.;
- Järvelä, Irma;
- Arvio, Maria;
- Schrauwen, Isabelle
Publication type:
Article
Rare A2ML1 variants confer susceptibility to otitis media.
Published in:
Nature Genetics, 2015, v. 47, n. 8, p. 917, doi. 10.1038/ng.3347
By:
- Santos-Cortez, Regie Lyn P;
- Wang, Xin;
- Acharya, Anushree;
- Abbe, Izoduwa;
- Li, Biao;
- Wang, Gao T;
- Leal, Suzanne M;
- Patel, Janak A;
- Chonmaitree, Tasnee;
- Sale, Michele M;
- Chiong, Charlotte M;
- Reyes-Quintos, Ma Rina T;
- Llanes, Erasmo Gonzalo D V;
- Gloria-Cruz, Teresa Luisa I;
- Chan, Abner L;
- Abes, Generoso T;
- Tantoco, Ma Leah C;
- Giese, Arnaud P;
- Riazuddin, Saima;
- Ahmed, Zubair M
Publication type:
Article
Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment.
Published in:
BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0618-5
By:
- Schrauwen, Isabelle;
- Chakchouk, Imen;
- Acharya, Anushree;
- Liaqat, Khurram;
- Irfanullah;
- University of Washington Center for Mendelian Genomics;
- Nickerson, Deborah A.;
- Bamshad, Michael J.;
- Shah, Khadim;
- Ahmad, Wasim;
- Leal, Suzanne M.
Publication type:
Article
A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana.
Published in:
BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01391-w
By:
- Adadey, Samuel Mawuli;
- Aboagye, Elvis Twumasi;
- Esoh, Kevin;
- Acharya, Anushree;
- Bharadwaj, Thashi;
- Lin, Nicole S.;
- Amenga-Etego, Lucas;
- Awandare, Gordon A.;
- Schrauwen, Isabelle;
- Leal, Suzanne M.;
- Wonkam, Ambroise
Publication type:
Article
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.
Published in:
Human Genetics, 2019, v. 138, n. 6, p. 593, doi. 10.1007/s00439-019-02000-0
By:
- Ullah, Irfan;
- Kakar, Naseebullah;
- Schrauwen, Isabelle;
- Hussain, Shabir;
- Chakchouk, Imen;
- Liaqat, Khurram;
- Acharya, Anushree;
- Wasif, Naveed;
- Santos-Cortez, Regie Lyn P.;
- Khan, Saadullah;
- Aziz, Abdul;
- Lee, Kwanghyuk;
- Couthouis, Julien;
- Horn, Denise;
- Kragesteen, Bjørt K.;
- Spielmann, Malte;
- Thiele, Holger;
- Nickerson, Deborah A.;
- Bamshad, Michael J.;
- Gitler, Aaron D.
Publication type:
Article
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.
Published in:
Human Genetics, 2018, v. 137, n. 9, p. 735, doi. 10.1007/s00439-018-1928-6
By:
- Santos-Cortez, Regie Lyn P.;
- Khan, Valeed;
- Khan, Falak Sher;
- Mughal, Zaib-un-Nisa;
- Chakchouk, Imen;
- Lee, Kwanghyuk;
- Rasheed, Memoona;
- Hamza, Rifat;
- Acharya, Anushree;
- Ullah, Ehsan;
- Saqib, Muhammad Arif Nadeem;
- Abbe, Izoduwa;
- Ali, Ghazanfar;
- Hassan, Muhammad Jawad;
- Khan, Saadullah;
- Azeem, Zahid;
- Ullah, Irfan;
- Bamshad, Michael J.;
- Nickerson, Deborah A.;
- Schrauwen, Isabelle
Publication type:
Article
A Novel Variant in VPS13B Underlying Cohen Syndrome.
Published in:
BioMed Research International, 2023, p. 1, doi. 10.1155/2023/9993801
By:
- Hussain, Abrar;
- Acharya, Anushree;
- Bharadwaj, Thashi;
- Genomics, University Of Washington Center For Mendelian;
- Leal, Suzanne M.;
- Khaliq, Abdul;
- Mir, Asif;
- Schrauwen, Isabelle
Publication type:
Article
Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders.
Published in:
Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-62009-y
By:
- Schrauwen, Isabelle;
- Rajendran, Yasmin;
- Acharya, Anushree;
- Öhman, Susanna;
- Arvio, Maria;
- Paetau, Ritva;
- Siren, Auli;
- Avela, Kristiina;
- Granvik, Johanna;
- Leal, Suzanne M.;
- Määttä, Tuomo;
- Kokkonen, Hannaleena;
- Järvelä, Irma
Publication type:
Article
Long‐read whole‐genome sequencing for the genetic diagnosis of dystrophinopathies.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 10, p. 2041, doi. 10.1002/acn3.51201
By:
- Xie, Zhiying;
- Sun, Chengyue;
- Zhang, Siwen;
- Liu, Yilin;
- Yu, Meng;
- Zheng, Yiming;
- Meng, Lingchao;
- Acharya, Anushree;
- Cornejo‐Sanchez, Diana M;
- Wang, Gao;
- Zhang, Wei;
- Schrauwen, Isabelle;
- Leal, Suzanne M.;
- Wang, Zhaoxia;
- Yuan, Yun
Publication type:
Article
Antimicrobial susceptibility and molecular epidemiology of extended-spectrum beta-lactamase-producing Enterobacteriaceae from intensive care units at Hamad Medical Corporation, Qatar.
Published in:
Antimicrobial Resistance & Infection Control, 2016, v. 5, p. 1, doi. 10.1186/s13756-016-0103-x
By:
- Sid Ahmed, Mazen A.;
- Bansal, Devendra;
- Acharya, Anushree;
- Elmi, Asha A.;
- Hamid, Jemal M.;
- Sid Ahmed, Abuelhassan M.;
- Chandra, Prem;
- Ibrahim, Emad;
- Sultan, Ali A.;
- Doiphode, Sanjay;
- Bilal, Naser Eldin;
- Deshmukh, Anand
Publication type:
Article
Syntaxin 4 is essential for hearing in human and zebrafish.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 7, p. 1184, doi. 10.1093/hmg/ddac257
By:
- Schrauwen, Isabelle;
- Ghaffar, Amama;
- Bharadwaj, Thashi;
- Shah, Khadim;
- Rehman, Sakina;
- Acharya, Anushree;
- Liaqat, Khurram;
- Lin, Nicole S;
- Everard, Jenna L;
- Khan, Anwar;
- Ahmed, Zubair M;
- Ahmad, Wasim;
- Riazuddin, Saima;
- Leal, Suzanne M
Publication type:
Article
Nonsense variant in a consanguineous family expands the phenotype of KPTN gene‐related syndrome to include hearing impairment.
Published in:
Clinical Genetics, 2023, v. 104, n. 4, p. 499, doi. 10.1111/cge.14390
By:
- Liaqat, Khurram;
- Bharadwaj, Thashi;
- Shah, Khadim;
- Nasir, Abdul;
- Acharya, Anushree;
- Khan, Saadullah;
- Ullah, Irfan;
- Schrauwen, Isabelle;
- Ahmad, Wasim;
- Leal, Suzanne M.
Publication type:
Article
A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV.
Published in:
Annals of Human Genetics, 2022, v. 86, n. 6, p. 291, doi. 10.1111/ahg.12462
By:
- Hussain, Shabir;
- Nawaz, Shoaib;
- Khan, Hammal;
- Acharya, Anushree;
- Schrauwen, Isabelle;
- Ahmad, Wasim;
- Leal, Suzanne M.
Publication type:
Article
Depression, malnutrition, and health-related quality of life among Nepali older patients.
Published in:
2018
By:
- Ghimire, Saruna;
- Baral, Binaya Kumar;
- Pokhrel, Buddhi Raj;
- Pokhrel, Asmita;
- Acharya, Anushree;
- Amatya, Dipta;
- Amatya, Prabisha;
- Mishra, Shiva Raj
Publication type:
journal article
Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort.
Published in:
Brain Communications, 2024, v. 6, n. 3, p. 1, doi. 10.1093/braincomms/fcae142
By:
- Järvelä, Irma;
- Paetau, Ritva;
- Rajendran, Yasmin;
- Acharya, Anushree;
- Bharadwaj, Thashi;
- Leal, Suzanne M;
- Lehesjoki, Anna-Elina;
- Palomäki, Maarit;
- Schrauwen, Isabelle
Publication type:
Article
Human Papillomavirus (HPV) Infection: Molecular Epidemiology, Genotyping, Seroprevalence and Associated Risk Factors among Arab Women in Qatar.
Published in:
PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0169197
By:
- Elmi, Asha A.;
- Bansal, Devendra;
- Acharya, Anushree;
- Skariah, Sini;
- Dargham, Soha R.;
- Abu-Raddad, Laith J.;
- Mohamed-Nady, Nady;
- Amuna, Paul;
- Al-Thani, Asma A. J.;
- Sultan, Ali A.
Publication type:
Article
Distribution of Mutations Associated with Antifolate and Chloroquine Resistance among Imported Plasmodium vivax in the State of Qatar.
Published in:
American Journal of Tropical Medicine & Hygiene, 2017, v. 97, n. 6, p. 1797, doi. 10.4269/ajtmh.17-0436
By:
- Bansal, Devendra;
- Acharya, Anushree;
- Bharti, Praveen K.;
- Abdelraheem, Mohamed H.;
- Elmalik, Ashraf;
- Abosalah, Salem;
- Khan, Fahmi Y.;
- ElKhalifa, Mohamed;
- Kaur, Hargobinder;
- Mohapatra, Pradyumna K.;
- Sehgal, Rakesh;
- Idris, Mohammed A.;
- Mahanta, Jagadish;
- Singh, Neeru;
- Babiker, Hamza A.;
- Sultan, Ali A.
Publication type:
Article
A novel variant in DMXL2 gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family.
Published in:
Experimental Biology & Medicine, 2021, v. 246, n. 13, p. 1524, doi. 10.1177/1535370221999746
By:
- Wonkam-Tingang, Edmond;
- Schrauwen, Isabelle;
- Esoh, Kevin K;
- Bharadwaj, Thashi;
- Nouel-Saied, Liz M;
- Acharya, Anushree;
- Nasir, Abdul;
- Leal, Suzanne M;
- Wonkam, Ambroise
Publication type:
Article
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Published in:
Human Mutation, 2019, v. 40, n. 1, p. 53, doi. 10.1002/humu.23666
By:
- Richard, Elodie M.;
- Santos‐Cortez, Regie Lyn P.;
- Faridi, Rabia;
- Rehman, Atteeq U.;
- Lee, Kwanghyuk;
- Shahzad, Mohsin;
- Acharya, Anushree;
- Khan, Asma A.;
- Imtiaz, Ayesha;
- Chakchouk, Imen;
- Takla, Christina;
- Abbe, Izoduwa;
- Rafeeq, Maria;
- Liaqat, Khurram;
- Chaudhry, Taimur;
- Bamshad, Michael J.;
- Nickerson, Deborah A.;
- Schrauwen, Isabelle;
- Khan, Shaheen N.;
- Morell, Robert J.
Publication type:
Article
SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families.
Published in:
Genes, 2022, v. 13, n. 5, p. 754, doi. 10.3390/genes13050754
By:
- Cornejo-Sanchez, Diana M.;
- Acharya, Anushree;
- Bharadwaj, Thashi;
- Marin-Gomez, Lizeth;
- Pereira-Gomez, Pilar;
- Nouel-Saied, Liz M.;
- Nickerson, Deborah A.;
- Bamshad, Michael J.;
- Mefford, Heather C.;
- Schrauwen, Isabelle;
- Carrizosa-Moog, Jaime;
- Cornejo-Ochoa, William;
- Pineda-Trujillo, Nicolas;
- Leal, Suzanne M.
Publication type:
Article
Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family.
Published in:
Genes, 2022, v. 13, n. 4, p. 662, doi. 10.3390/genes13040662
By:
- Liaqat, Khurram;
- Hussain, Shabir;
- Acharya, Anushree;
- Nasir, Abdul;
- Bharadwaj, Thashi;
- Ansar, Muhammad;
- Basit, Sulman;
- Schrauwen, Isabelle;
- Ahmad, Wasim;
- Leal, Suzanne M.
Publication type:
Article
Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction.
Published in:
2021
By:
- Farooqi, Nadia;
- Metherell, Louise A.;
- Schrauwen, Isabelle;
- Acharya, Anushree;
- Khan, Qayum;
- Nouel Saied, Liz M.;
- Ali, Yasir;
- El-Serehy, Hamed A.;
- Jalil, Fazal;
- Leal, Suzanne M.
Publication type:
Case Study
A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family.
Published in:
Genes, 2021, v. 12, n. 11, p. 1765, doi. 10.3390/genes12111765
By:
- Manyisa, Noluthando;
- Schrauwen, Isabelle;
- de Souza Rios, Leonardo Alves;
- Mowla, Shaheen;
- Tekendo-Ngongang, Cedrik;
- Popel, Kalinka;
- Esoh, Kevin;
- Bharadwaj, Thashi;
- Nouel-Saied, Liz M.;
- Acharya, Anushree;
- Nasir, Abdul;
- Wonkam-Tingang, Edmond;
- Kock, Carmen de;
- Dandara, Collet;
- Leal, Suzanne M.;
- Wonkam, Ambroise
Publication type:
Article
Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment.
Published in:
Genes, 2020, v. 11, n. 11, p. 1249, doi. 10.3390/genes11111249
By:
- Wonkam-Tingang, Edmond;
- Schrauwen, Isabelle;
- Esoh, Kevin K.;
- Bharadwaj, Thashi;
- Nouel-Saied, Liz M.;
- Acharya, Anushree;
- Nasir, Abdul;
- Adadey, Samuel M.;
- Mowla, Shaheen;
- Leal, Suzanne M.;
- Wonkam, Ambroise
Publication type:
Article
Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment.
Published in:
Genes, 2020, v. 11, n. 6, p. 687, doi. 10.3390/genes11060687
By:
- Schrauwen, Isabelle;
- Liaqat, Khurram;
- Schatteman, Isabelle;
- Bharadwaj, Thashi;
- Nasir, Abdul;
- Acharya, Anushree;
- Ahmad, Wasim;
- Van Camp, Guy;
- Leal, Suzanne M.
Publication type:
Article
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.
Published in:
Journal of Bone & Mineral Research, 2019, v. 34, n. 2, p. 375, doi. 10.1002/jbmr.3594
By:
- Schrauwen, Isabelle;
- Giese, Arnaud PJ;
- Aziz, Abdul;
- Lafont, David Tino;
- Chakchouk, Imen;
- Santos‐Cortez, Regie Lyn P;
- Lee, Kwanghyuk;
- Acharya, Anushree;
- Khan, Falak Sher;
- Ullah, Asmat;
- Nickerson, Deborah A;
- Bamshad, Michael J;
- Ali, Ghazanfar;
- Riazuddin, Saima;
- Ansar, Muhammad;
- Ahmad, Wasim;
- Ahmed, Zubair M;
- Leal, Suzanne M
Publication type:
Article

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