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Author/Creator Acharya, Anushree

1. A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. Issue 10 (9th July 2015)

Authors:
Ansar, Muhammad; Raza, Syed Irfan; Lee, Kwanghyuk; Irfanullah, ; Shahi, Shamim; Acharya, Anushree; Dai, Hang; Smith, Joshua D; Shendure, Jay; Bamshad, Michael J; Nickerson, Deborah A; Santos-Cortez, Regie Lyn P; Ahmad, Wasim; Leal, Suzanne M
Other Names:
contributor.
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 10(2015)
Page Start:
676
Record Type:
Journal Article
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2. A novel variant in DMXL2 gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family. Issue 13 (July 2021)

Authors:
Wonkam-Tingang, Edmond; Schrauwen, Isabelle; Esoh, Kevin K; Bharadwaj, Thashi; Nouel-Saied, Liz M; Acharya, Anushree; Nasir, Abdul; Leal, Suzanne M; Wonkam, Ambroise
Journal:
Experimental biology and medicine
Issue:
Volume 246:Issue 13(2021)
Page Start:
1524
Record Type:
Journal Article
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5. A2ML1 and otitis media: novel variants, differential expression, and relevant pathways. Issue 8 (21st May 2019)

Authors:
Larson, Eric D.; Magno, Jose Pedrito M.; Steritz, Matthew J.; Llanes, Erasmo Gonzalo d.V.; Cardwell, Jonathan; Pedro, Melquiadesa; Roberts, Tori Bootpetch; Einarsdottir, Elisabet; Rosanes, Rose Anne Q.; Greenlee, Christopher; Santos, Rachel Ann P.; Yousaf, Ayesha; Streubel, Sven‐Olrik; Santos, Ai...
Journal:
Human mutation
Issue:
Volume 40:Issue 8(2019)
Page Start:
1156
Record Type:
Journal Article
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6. A2ML1 and otitis media: novel variants, differential expression, and relevant pathways. Issue 8 (21st May 2019)

Authors:
Larson, Eric D.; Magno, Jose Pedrito M.; Steritz, Matthew J.; Llanes, Erasmo Gonzalo d.V.; Cardwell, Jonathan; Pedro, Melquiadesa; Roberts, Tori Bootpetch; Einarsdottir, Elisabet; Rosanes, Rose Anne Q.; Greenlee, Christopher; Santos, Rachel Ann P.; Yousaf, Ayesha; Streubel, Sven‐Olrik; Santos, Ai...
Journal:
Human mutation
Issue:
Volume 40:Issue 8(2019)
Page Start:
1156
Record Type:
Journal Article
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7. Antimicrobial susceptibility and molecular epidemiology of extended-spectrum beta-lactamase-producing Enterobacteriaceae from intensive care units at Hamad Medical Corporation, Qatar. Issue 1 (December 2016)

Authors:
Sid Ahmed, Mazen; Bansal, Devendra; Acharya, Anushree; Elmi, Asha; Hamid, Jemal; Sid Ahmed, Abuelhassan; Chandra, Prem; Ibrahim, Emad; Sultan, Ali; Doiphode, Sanjay; Bilal, Naser; Deshmukh, Anand
Journal:
Antimicrobial resistance & infection control
Issue:
Volume 5:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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8. Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant. Issue 3 (11th February 2022)

Authors:
Bharadwaj, Thashi; Schrauwen, Isabelle; Acharya, Anushree; Nouel‐Saied, Liz M.; Väisänen, Marja‐Leena; Kraatari, Minna; Rahikkala, Elisa; Jarvela, Irma; Kotimäki, Jouko; Leal, Suzanne M.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 10:Issue 3(2022)
Page Start:
n/a
Record Type:
Journal Article
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9. Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders. Issue 7 (28th July 2021)

Authors:
Acharya, Anushree; Kavus, Haluk; Dunn, Patrick; Nasir, Abdul; Folk, Leandra; Withrow, Kara; Wentzensen, Ingrid M.; Ruzhnikov, Maura R. Z.; Fallot, Camille; Smol, Thomas; Rama, Mélanie; Brown, Kathleen; Whalen, Sandra; Ziegler, Alban; Barth, Magali; Chassevent, Anna; Smith-Hicks, Constance; Afenja...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 7(2022)
Page Start:
669
Record Type:
Journal Article
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10. FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. (5th November 2018)

Authors:
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,...
Journal:
Journal of bone and mineral research
Issue:
Volume 34:Number 2(2019)
Page Start:
375
Record Type:
Journal Article
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