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Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development.
Published in:
Molecular Syndromology, 2023, v. 14, n. 4, p. 303, doi. 10.1159/000530197
By:
- Izumi, Kosuke;
- Ganetzky, Rebecca D.;
- Wertheim, Gerald B.W.;
- Skraban, Cara M.;
- Bedoukian, Emma C.;
- Wilkens, Alisha;
- Fincher, Christopher;
- Thomas, Nina H.;
- Ginsberg, Jill P.;
- Rheingold, Susan R.;
- Conlin, Laura K.;
- Deardorff, Matthew A.
Publication type:
Article
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Published in:
Human Genetics, 2021, v. 140, n. 7, p. 1061, doi. 10.1007/s00439-021-02274-3
By:
- Li, Dong;
- March, Michael E.;
- Fortugno, Paola;
- Cox, Liza L.;
- Matsuoka, Leticia S.;
- Monetta, Rosanna;
- Seiler, Christoph;
- Pyle, Louise C.;
- Bedoukian, Emma C.;
- Sánchez-Soler, María José;
- Caluseriu, Oana;
- Grand, Katheryn;
- Tam, Allison;
- Aycinena, Alicia R. P.;
- Camerota, Letizia;
- Guo, Yiran;
- Sleiman, Patrick;
- Callewaert, Bert;
- Kumps, Candy;
- Dheedene, Annelies
Publication type:
Article
Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant.
Published in:
Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 2, p. 1, doi. 10.1002/mgg3.1574
By:
- Bedoukian, Emma C.;
- Rentas, Stefan;
- Skraban, Cara;
- Shao, Qing;
- Treat, James;
- Laird, Dale W.;
- Sullivan, Kathleen E.
Publication type:
Article
EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2926, doi. 10.1002/ajmg.a.61883
By:
- Cohen, Jennifer L.;
- Schrier Vergano, Samantha A.;
- Mazzola, Sarah;
- Strong, Alanna;
- Keena, Beth;
- McDougall, Carey;
- Ritter, Alyssa;
- Li, Dong;
- Bedoukian, Emma C.;
- Burke, Leah W.;
- Hoffman, Amber;
- Zurcher, Victoria;
- Krantz, Ian D.;
- Izumi, Kosuke;
- Bhoj, Elizabeth;
- Zackai, Elaine H.;
- Deardorff, Matthew A.
Publication type:
Article
Variable Clinical Manifestations of Xia‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1890, doi. 10.1002/ajmg.a.40380
By:
- Ritter, Alyssa L.;
- McDougall, Carey;
- Skraban, Cara;
- Medne, Livija;
- Bedoukian, Emma C.;
- Asher, Stephanie B.;
- Balciuniene, Jorune;
- Campbell, Colleen D.;
- Baker, Samuel W.;
- Denenberg, Elizabeth H.;
- Mazzola, Sarah;
- Fiordaliso, Sarah K.;
- Krantz, Ian D.;
- Kaplan, Paige;
- Ierardi‐Curto, Lynne;
- Santani, Avni B.;
- Zackai, Elaine H.;
- Izumi, Kosuke
Publication type:
Article
A human case of SLC35A3-related skeletal dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2758, doi. 10.1002/ajmg.a.38374
By:
- Edmondson, Andrew C.;
- Bedoukian, Emma C.;
- Deardorff, Matthew A.;
- McDonald‐McGinn, Donna M.;
- Li, Xueli;
- He, Miao;
- Zackai, Elaine H.
Publication type:
Article
Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2523, doi. 10.1002/ajmg.a.37855
By:
- Mehta, Devanshi;
- Noon, Sarah E.;
- Schwartz, Emily;
- Wilkens, Alisha;
- Bedoukian, Emma C.;
- Scarano, Irene;
- Crenshaw, E. Bryan;
- Krantz, Ian D.
Publication type:
Article
Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder.
Published in:
Brain Sciences (2076-3425), 2021, v. 11, n. 7, p. 931, doi. 10.3390/brainsci11070931
By:
- Srivastava, Siddharth;
- Macke, Erica L.;
- Swanson, Lindsay C.;
- Coulter, David;
- Klee, Eric W.;
- Mullegama, Sureni V.;
- Xie, Yili;
- Lanpher, Brendan C.;
- Bedoukian, Emma C.;
- Skraban, Cara M.;
- Villard, Laurent;
- Milh, Mathieu;
- Leppert, Mary L. O.;
- Cohen, Julie S.
Publication type:
Article
Vitreoretinopathy in Asymptomatic Children With CTNNB1 Syndrome.
Published in:
JAMA Ophthalmology, 2024, v. 142, n. 9, p. 874, doi. 10.1001/jamaophthalmol.2024.2847
By:
- Bedoukian, Emma C.;
- Forbes, Grace;
- Scoles, Drew
Publication type:
Article
Severe Familial Exudative Vitreoretinopathy, Congenital Hearing Loss, and Developmental Delay in a Child With Biallelic Variants in FZD4.
Published in:
2022
By:
- van der Ende, Sarah R.;
- Meyers, Benjamin S.;
- Capasso, Jenina E.;
- Sasongko, Mario;
- Yonekawa, Yoshihiro;
- Pihlblad, Matthew;
- Huey, Jennifer;
- Bedoukian, Emma C.;
- Krantz, Ian D.;
- Ngo, Michael H.;
- McMaster, Christopher R.;
- Levin, Alex V.;
- Robitaille, Johane M.
Publication type:
journal article
Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.
Published in:
Brain Communications, 2021, v. 3, n. 3, p. 1, doi. 10.1093/braincomms/fcab162
By:
- Jurkute, Neringa;
- Bertacchi, Michele;
- Arno, Gavin;
- Tocco, Chiara;
- Kim, Ungsoo Samuel;
- Kruszewski, Adam M.;
- Avery, Robert A.;
- Bedoukian, Emma C.;
- Jinu Han;
- Sung Jun Ahn;
- Pontikos, Nikolas;
- Acheson, James;
- Davagnanam, Indran;
- Bowman, Richard;
- Kaliakatsos, Marios;
- Gardham, Alice;
- Wakeling, Emma;
- Oluonye, Ngozi;
- Reddy, Maddy Ashwin;
- Clark, Elaine
Publication type:
Article
A Virtual Reality Orientation and Mobility Test for Inherited Retinal Degenerations: Testing a Proof-of-Concept After Gene Therapy.
Published in:
Clinical Ophthalmology, 2021, v. 15, p. 939, doi. 10.2147/OPTH.S292527
By:
- Aleman, Tomas S;
- Miller, Alexander J;
- Maguire, Katherine H;
- Aleman, Elena M;
- Serrano, Leona W;
- O'Connor, Keli B;
- Bedoukian, Emma C;
- Leroy, Bart P;
- Maguire, Albert M;
- Bennett, Jean
Publication type:
Article

Found: 12