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Author/Creator Schrauwen, Isabelle

1. A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss. Issue 12 (8th October 2019)

Authors:
Kari, Elina; Llaci, Lorida; Go, John L.; Naymik, Marcus; Knowles, James A.; Leal, Suzanne M.; Rangasamy, Sampath; Huentelman, Matthew J.; Friedman, Rick A.; Schrauwen, Isabelle
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 7:Issue 12(2019)
Page Start:
n/a
Record Type:
Journal Article
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2. A monoallelic variant in EYA1 is associated with Branchio‐Otic syndrome in a Malian family. Issue 7 (14th June 2022)

Authors:
Yalcouyé, Abdoulaye; Traoré, Oumou; Diarra, Salimata; Schrauwen, Isabelle; Esoh, Kevin; Kadlubowska, Magda Kamila; Bharadwaj, Thashi; Adadey, Samuel Mawuli; Kéita, Mohamed; Guinto, Cheick O.; Leal, Suzanne M.; Landouré, Guida; Wonkam, Ambroise
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 10:Issue 7(2022)
Page Start:
n/a
Record Type:
Journal Article
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3. 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. Issue 7 (16th July 2018)

Authors:
Balak, Chris; Belnap, Newell; Ramsey, Keri; Joss, Shelagh; Devriendt, Koen; Naymik, Marcus; Jepsen, Wayne; Siniard, Ashley L.; Szelinger, Szabolcs; Parker, Mary E.; Richholt, Ryan; Izatt, Tyler; LaFleur, Madison; Terraf, Panieh; Llaci, Lorida; De Both, Matt; Piras, Ignazio S.; Rangasamy, Sampathk...
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 7(2018)
Page Start:
1549
Record Type:
Journal Article
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4. 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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6. A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR‐based approach and next generation sequencing123. Issue 1 (3rd December 2012)

Authors:
Schrauwen, Isabelle; Sommen, Manou; Corneveaux, Jason J.; Reiman, Rebecca A.; Hackett, Nicole J.; Claes, Charlotte; Claes, Kathleen; Bitner‐Glindzicz, Maria; Coucke, Paul; Van Camp, Guy; Huentelman, Matthew J.
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 1(2013:Jan.)
Page Start:
145
Record Type:
Journal Article
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9. 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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