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Author/Creator Zhou, Dihong

2. Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin. Issue 1 (13th September 2021)

Authors:
von der Lippe, Charlotte; Tveten, Kristian; Prescott, Trine E.; Holla, Øystein L.; Busk, Øyvind L.; Burke, Katherine B.; Sansbury, Francis H.; Baptista, Júlia; Fry, Andrew E.; Lim, Derek; Jolles, Stephen; Evans, Jennifer; Osio, Deborah; Macmillan, Carol; Bruno, Irene; Faletra, Flavio; Climent, Sa...
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 1(2022)
Page Start:
272
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Phenotypic expansion and variable expressivity in individuals with JARID2‐related intellectual disability: A case series. Issue 2 (18th May 2022)

Authors:
Cadieux‐Dion, Maxime; Farrow, Emily; Thiffault, Isabelle; Cohen, Ana S. A.; Welsh, Holly; Bartik, Lauren; Schwager, Caitlin; Engleman, Kendra; Zhou, Dihong; Zhang, Lei; Repnikova, Elena; Amudhavalli, Shivarajan M.; Saunders, Carol J.
Journal:
Clinical genetics
Issue:
Volume 102:Issue 2(2022)
Page Start:
136
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia. Issue 1 (27th October 2022)

Authors:
Del Viso, Florencia; Zhou, Dihong; Thiffault, Isabelle; Lawson, Caitlin; Cross, Laura; Jenkins, Janda; Rush, Eric; Saunders, Carol
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 1(2023)
Page Start:
259
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗