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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
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.
Published in:
2020
By:
- McNeill, Alisdair;
- Iovino, Emanuela;
- Mansard, Luke;
- Vache, Christel;
- Baux, David;
- Bedoukian, Emma;
- Cox, Helen;
- Dean, John;
- Goudie, David;
- Kumar, Ajith;
- Newbury-Ecob, Ruth;
- Fallerini, Chiara;
- Renieri, Alessandra;
- Lopergolo, Diego;
- Mari, Francesca;
- Blanchet, Catherine;
- Willems, Marjolaine;
- Roux, Anne-Francoise;
- Pippucci, Tommaso;
- Delpire, Eric
Publication type:
journal 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
Recurrent missense variant identified in two unrelated families with MPZL2‐related hearing loss, expanding the variant spectrum associated with DFNB111.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63530
By:
- Lo, Emma;
- Blair, Justin;
- Yamamoto, Nobuko;
- Diaz‐Miranda, Maria Alejandra;
- Bedoukian, Emma;
- Gray, Christopher;
- Lawrence, Audrey;
- Dedhia, Kavita;
- Elden, Lisa M.;
- Germiller, John A.;
- Kazahaya, Ken;
- Sobol, Steven E.;
- Luo, Minjie;
- Krantz, Ian D.;
- Hartman, Tiffiney R.
Publication type:
Article
Exon skip‐inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3675, doi. 10.1002/ajmg.a.62424
By:
- Wade, Emma M.;
- Jenkins, Zandra A.;
- Morgan, Tim;
- Gimenez, Gregory;
- Gibson, Hayley;
- Peng, Hui;
- Sanchez Russo, Rossana;
- Skraban, Cara M.;
- Bedoukian, Emma;
- Robertson, Stephen P.
Publication type:
Article
Nonlethal presentations of CYP26B1‐related skeletal anomalies and multiple synostoses syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2766, doi. 10.1002/ajmg.a.62387
By:
- Grand, Katheryn;
- Skraban, Cara M.;
- Cohen, Jennifer L.;
- Dowsett, Leah;
- Mazzola, Sarah;
- Tarpinian, Jennifer;
- Bedoukian, Emma;
- Nesbitt, Addie;
- Denenberg, Beth;
- Lulis, Lauren;
- Santani, Avni;
- Zackai, Elaine H.;
- Deardorff, Matthew A.
Publication type:
Article
Ciliopathies: Coloring outside of the lines.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 687, doi. 10.1002/ajmg.a.62013
By:
- Strong, Alanna;
- Li, Dong;
- Mentch, Frank;
- Bedoukian, Emma;
- Hartung, Erum A.;
- Meyers, Kevin;
- Skraban, Cara;
- Wen, Jessica;
- Medne, Livija;
- Glessner, Joseph;
- Watson, Deborah;
- Krantz, Ian;
- Hakonarson, Hakon
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
NKX2‐6 related congenital heart disease: Biallelic homeodomain‐disrupting variants and truncus arteriosus.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1454, doi. 10.1002/ajmg.a.61550
By:
- Ritter, Alyssa;
- Werner, Petra;
- Latney, Brande;
- Krock, Bryon L.;
- Santani, Avni;
- Bedoukian, Emma;
- Skraban, Cara M.;
- Deardorff, Matthew A.;
- Goldmuntz, Elizabeth
Publication type:
Article
Genotype–phenotype specificity in Menke–Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1058, doi. 10.1002/ajmg.a.61131
By:
- Banka, Siddharth;
- Sayer, Rebecca;
- Breen, Catherine;
- Barton, Stephanie;
- Pavaine, Julija;
- Sheppard, Sarah E.;
- Bedoukian, Emma;
- Skraban, Cara;
- Cuddapah, Vishnu A;
- Clayton‐Smith, Jill
Publication type:
Article
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 542, doi. 10.1002/ajmg.a.61062
By:
- Grand, Katheryn;
- Gonzalez‐Gandolfi, Christina;
- Ackermann, Amanda M.;
- Aljeaid, Deema;
- Bedoukian, Emma;
- Bird, Lynne M.;
- De Leon, Diva D.;
- Diaz, Jullianne;
- Hopkin, Robert J.;
- Kadakia, Sejal P.;
- Keena, Beth;
- Klein, Karen O.;
- Krantz, Ian;
- Leon, Eyby;
- Lord, Katherine;
- McDougall, Carey;
- Medne, Livija;
- Skraban, Cara M.;
- Stanley, Charles A.;
- Tarpinian, Jennifer
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
Bohring‐Opitz syndrome caused by an <italic>ASXL1</italic> mutation inherited from a germline mosaic mother.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1249, doi. 10.1002/ajmg.a.38686
By:
- Bedoukian, Emma;
- Copenheaver, Deborah;
- Bale, Sherri;
- Deardorff, Matthew
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
Expanding Genetic Counselor Roles: A Model for Global Research Development.
Published in:
Genes, 2024, v. 15, n. 7, p. 867, doi. 10.3390/genes15070867
By:
- Muraresku, Colleen C.;
- McCormick, Elizabeth M.;
- Rockart, Lydia;
- Blaine Crowley, T.;
- Asher, Stephanie;
- Back, Amanda;
- Baldino, Sarah M.;
- Bedoukian, Emma;
- Britt, Allison D.;
- Burrill, Natalie;
- Cacioppo, Cara;
- Clark, Dana Farengo;
- Clark, Mary Egan;
- Conway, Laura;
- Dratch, Laynie;
- Dubbs, Holly A.;
- Engelhardt, Nicole M.;
- Ginn, Natalie;
- Gray, Christopher;
- Hartman, Tiff
Publication type:
Article

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