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Author/Creator Schneider, Adele

2. Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders. Issue 17 (27th May 2021)

Authors:
Reis, Linda M; Sorokina, Elena A; Dudakova, Lubica; Moravikova, Jana; Skalicka, Pavlina; Malinka, Frantisek; Seese, Sarah E; Thompson, Samuel; Bardakjian, Tanya; Capasso, Jenina; Allen, William; Glaser, Tom; Levin, Alex V; Schneider, Adele; Khan, Ayesha; Liskova, Petra; Semina, Elena V
Journal:
Human molecular genetics
Issue:
Volume 30:Issue 17(2021)
Page Start:
1591
Record Type:
Journal Article
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3. De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features. Issue 10 (20th August 2020)

Authors:
Malhotra, Alka; Ziegler, Alban; Shu, Li; Perrier, Renee; Amlie-Wolf, Louise; Wohler, Elizabeth; Lygia de Macena Sobreira, Nara; Colin, Estelle; Vanderver, Adeline; Sherbini, Omar; Stouffs, Katrien; Scalais, Emmanuel; Serretti, Alessandro; Barth, Magalie; Navet, Benjamin; Rollier, Paul; Xi, Hui; W...
Journal:
Journal of medical genetics
Issue:
Volume 58:Issue 10(2021)
Page Start:
712
Record Type:
Journal Article
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5. Expanded Carrier Screening in Reproductive Medicine—Points to Consider: A Joint Statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine. Issue 3 (March 2015)

Authors:
Edwards, Janice G.; Feldman, Gerald; Goldberg, James; Gregg, Anthony R.; Norton, Mary E.; Rose, Nancy C.; Schneider, Adele; Stoll, Katie; Wapner, Ronald; Watson, Michael S.
Journal:
Obstetrics and gynecology
Issue:
Volume 125:Issue 3(2015)
Page Start:
Record Type:
Journal Article
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6. Gain‐of‐Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment. Issue 8 (9th May 2016)

Authors:
Srour, Myriam; Caron, Véronique; Pearson, Toni; Nielsen, Sarah B.; Lévesque, Sébastien; Delrue, Marie‐Ange; Becker, Troy A.; Hamdan, Fadi F.; Kibar, Zoha; Sattler, Shannon G.; Schneider, Michael C.; Bitoun, Pierre; Chassaing, Nicolas; Rosenfeld, Jill A.; Xia, Fan; Desai, Sonal; Roeder, Elizabeth;...
Journal:
Human mutation
Issue:
Volume 37:Issue 8(2016)
Page Start:
786
Record Type:
Journal Article
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7. Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog. Issue 7 (11th July 2012)

Authors:
Solomon, Benjamin D; Bear, Kelly A; Wyllie, Adrian; Keaton, Amelia A; Dubourg, Christele; David, Veronique; Mercier, Sandra; Odent, Sylvie; Hehr, Ute; Paulussen, Aimee; Clegg, Nancy J; Delgado, Mauricio R; Bale, Sherri J; Lacbawan, Felicitas; Ardinger, Holly H; Aylsworth, Arthur S; Bhengu, Ntombe...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 7(2012)
Page Start:
473
Record Type:
Journal Article
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8. Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis. Issue 4 (3rd January 2023)

Authors:
Albakri, Amani; Pisuchpen, Phattrawan; Capasso, Jenina E.; Schneider, Adele; Kopinsky, Sarina; Glaser, Tom; Chiang, John P.‐W.; Yomai, Anamaria Akapito; McNear, Donna; Levin, Alex V.
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 4(2023)
Page Start:
1007
Record Type:
Journal Article
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9. Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study. Issue 1 (25th September 2021)

Authors:
Amlie‐Wolf, Louise; Bardakjian, Tanya; Kopinsky, Sarina M.; Reis, Linda M.; Semina, Elena V.; Schneider, Adele
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 1(2022)
Page Start:
187
Record Type:
Journal Article
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