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1

Healthcare Needs and Care Utilization among Lesbian, Gay, Bisexual and Transgender Populations in New Jersey

Qureshi, Rubab I., Zha, Peijia, Kim, Suzanne, Hindin, Patricia, Naqvi, Zoon, Holly, Cheryl, Dubbs, William, Ritch, Wendy

Journal:

Journal of Homosexuality

Year:

2017

Language:

english

File:

PDF, 1.08 MB

english, 2017

2

Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders

Nesbitt, Addie, Bhoj, Elizabeth J., McDonald Gibson, Kristin, Yu, Zhenming, Denenberg, Elizabeth, Sarmady, Mahdi, Tischler, Tanya, Cao, Kajia, Dubbs, Holly, Zackai, Elaine H., Santani, Avni

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 628 KB

english, 2015

3

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

Straub, Jonas, Konrad, Enrico D.H., Grüner, Johanna, Toutain, Annick, Bok, Levinus A., Cho, Megan T., Crawford, Heather P., Dubbs, Holly, Douglas, Ganka, Jobling, Rebekah, Johnson, Diana, Krock, Bryan

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.71 MB

english, 2017

4

Late-onset partial complex seizures secondary to cortical dysplasia in a patient with maternal vitamin K deficient embryopathy: Comments on the article by Toriello et al. [2013] and first report of the natural history

Bhoj, Elizabeth, Dubbs, Holly, McDonald-McGinn, Donna, Zackai, Elaine

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 246 KB

english, 2013

5

Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy

Kalish, Jennifer M., Conlin, Laura K., Bhatti, Tricia R., Dubbs, Holly A., Harris, Mary Catherine, Izumi, Kosuke, Mostoufi-Moab, Sogol, Mulchandani, Surabhi, Saitta, Sulagna, States, Lisa J., Swarr, D

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 1.34 MB

english, 2013

6

Melorheostosis

Kadhim, Muayad, Deardorff, Matthew A., Dubbs, Holly, Zackai, Elaine H., Dormans, John P.

Journal:

Journal of Pediatric Orthopaedics

Year:

2015

Language:

english

File:

PDF, 303 KB

english, 2015

7

Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

Tham, Emma, Lindstrand, Anna, Santani, Avni, Malmgren, Helena, Nesbitt, Addie, Dubbs, Holly A., Zackai, Elaine H., Parker, Michael J., Millan, Francisca, Rosenbaum, Kenneth, Wilson, Golder N., Nordgre

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 891 KB

english, 2015

8

Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies

Luo, Minjie, Mulchandani, Surabhi, Dubbs, Holly A., Swarr, Daniel, Pyle, Louise, Zackai, Elaine H., Spinner, Nancy B., Conlin, Laura K.

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 729 KB

english, 2015

9

A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A

Tian, Guoling, Cristancho, Ana G., Dubbs, Holly A., Liu, Grant T., Cowan, Nicholas J., Goldberg, Ethan M.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2016

Language:

english

File:

PDF, 547 KB

english, 2016

10

10-year-old female with intragenic KANSL1 mutation, no KANSL1 -related intellectual disability, and preserved verbal intelligence

Keen, Colleen, Samango-Sprouse, Carole, Dubbs, Holly, Zackai, Elaine H.

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 84 KB

english, 2017

11

CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues

Luo, Minjie, Fan, Jinbo, Wenger, Tara L., Harr, Margaret H., Racobaldo, Melissa, Mulchandani, Surabhi, Dubbs, Holly, Zackai, Elaine H., Spinner, Nancy B., Conlin, Laura K.

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 785 KB

english, 2017

12

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

de Kovel, Carolien G. F., Syrbe, Steffen, Brilstra, Eva H., Verbeek, Nienke, Kerr, Bronwyn, Dubbs, Holly, Bayat, Allan, Desai, Sonal, Naidu, Sakkubai, Srivastava, Siddharth, Cagaylan, Hande, Yis, Uluc

Journal:

Year:

2017

Language:

english

File:

PDF, 1.03 MB

english, 2017

13

Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

Gibson, Kristin McDonald, Nesbitt, Addie, Cao, Kajia, Yu, Zhenming, Denenberg, Elizabeth, DeChene, Elizabeth, Guan, Qiaoning, Bhoj, Elizabeth, Zhou, Xiangdong, Zhang, Bo, Wu, Chao, Dubbs, Holly, Wilke

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 164 KB

english, 2017

14

CORRIGENDUM: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

Gibson, Kristin McDonald, Nesbitt, Addie, Cao, Kajia, Yu, Zhenming, Denenberg, Elizabeth, DeChene, Elizabeth, Guan, Qiaoning, Bhoj, Elizabeth, Zhou, Xiangdong, Zhang, Bo, Wu, Chao, Dubbs, Holly, Wilke

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 47 KB

english, 2018

15

CORRIGENDUM: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

Gibson, Kristin McDonald, Nesbitt, Addie, Cao, Kajia, Yu, Zhenming, Denenberg, Elizabeth, DeChene, Elizabeth, Guan, Qiaoning, Bhoj, Elizabeth, Zhou, Xiangdong, Zhang, Bo, Wu, Chao, Dubbs, Holly, Wilke

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 47 KB

english, 2018

16

A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity

Beck, David B., Subramanian, T., Vijayalingam, S., Ezekiel, Uthayashankar R., Donkervoort, Sandra, Yang, Michele L., Dubbs, Holly A., Ortiz-Gonzalez, Xilma R., Lakhani, Shenela, Segal, Devorah, Au, Ma

Journal:

Year:

2019

Language:

english

File:

PDF, 4.16 MB

english, 2019

17

Phenotypic and imaging spectrum associated with WDR45

Adang, Laura A., Pizzino, Amy, Malhotra, Alka, Dubbs, Holly, Williams, Catherine, Sherbini, Omar, Anttonen, Anna-Kaisa, Lesca, Gaetan, Linnankivi, Tarja, Laurencin, ChloÃ©, Milh, Matthieu, Perrine, Ch

Journal:

Pediatric Neurology

Year:

2020

Language:

english

File:

PDF, 19.52 MB

english, 2020

18

Late-onset Aicardi GoutiÃ¨res syndrome: a characterization of presenting clinical features

Piccoli, Cara, Bronner, Nowa, Gavazzi, Francesco, Dubbs, Holly, De Simone, Micaela, De Giorgis, Valentina, Orcesi, Simona, Fazzi, Elisa, Galli, Jessica, Masnada, Silvia, Tonduti, Davide, Varesio, Cost

Journal:

Pediatric Neurology

Year:

2020

File:

PDF, 4.45 MB

2020