Jill Rosenfeld: search on Z-Library

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1

UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism

Li, Chunmei, Beauregard-Lacroix, Eliane, Kondratev, Christine, Rousseau, Justine, Heo, Ah Jung, Neas, Katherine, Graham, Brett H., Rosenfeld, Jill A., Bacino, Carlos A., Wagner, Matias, Wenzel, Maren,

Journal:

The American Journal of Human Genetics

Year:

2021

File:

PDF, 4.13 MB

2021

2

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

Jill A. Rosenfeld, Justine Coppinger, Bassem A. Bejjani, Santhosh Girirajan, Evan E. Eichler, Lisa G. Shaffer, Blake C. Ballif

Journal:

Journal of Neurodevelopmental Disorders

Year:

2010

Language:

english

File:

PDF, 460 KB

english, 2010

3

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

Gennarino, Vincenzo A., Palmer, Elizabeth E., McDonell, Laura M., Wang, Li, Adamski, Carolyn J., Koire, Amanda, See, Lauren, Chen, Chun-An, Schaaf, Christian P., Rosenfeld, Jill A., Panzer, Jessica A.

Journal:

Year:

2018

Language:

english

File:

PDF, 5.45 MB

english, 2018

4

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Coe, Bradley P, Witherspoon, Kali, Rosenfeld, Jill A, van Bon, Bregje W M, Vulto-van Silfhout, Anneke T, Bosco, Paolo, Friend, Kathryn L, Baker, Carl, Buono, Serafino, Vissers, Lisenka E L M, Schuurs-

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 1.26 MB

english, 2014

5

Symptom Clusters in Acute Myocardial Infarction

Ryan, Catherine J., DeVon, Holli A., Horne, Rob, King, Kathleen B., Milner, Kerry, Moser, Debra K., Quinn, Jill R., Rosenfeld, Anne, Hwang, Seon Young, Zerwic, Julie J.

Journal:

Nursing Research

Year:

2007

Language:

english

File:

PDF, 319 KB

english, 2007

6

Targeted knockout of a chemokine-like gene increases anxiety and fear responses

Choi, Jung-Hwa, Jeong, Yun-Mi, Kim, Sujin, Lee, Boyoung, Ariyasiri, Krishan, Kim, Hyun-Taek, Jung, Seung-Hyun, Hwang, Kyu-Seok, Choi, Tae-Ik, Park, Chul O, Huh, Won-Ki, Carl, Matthias, Rosenfeld, Jill

Journal:

Proceedings of the National Academy of Sciences

Year:

2018

Language:

english

File:

PDF, 2.01 MB

english, 2018

7

Phenotypic expansion in DDX3X - a common cause of intellectual disability in females

Wang, Xia, Posey, Jennifer E., Rosenfeld, Jill A., Bacino, Carlos A., Scaglia, Fernando, Immken, LaDonna, Harris, Jill M., Hickey, Scott E., Mosher, Theresa M., Slavotinek, Anne, Zhang, Jing, Beuten,

Journal:

Annals of Clinical and Translational Neurology

Year:

2018

Language:

english

File:

PDF, 516 KB

english, 2018

8

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features

Tokita, Mari J., Chen, Chun-An, Chitayat, David, Macnamara, Ellen, Rosenfeld, Jill A., Hanchard, Neil, Lewis, Andrea M., Brown, Chester W., Marom, Ronit, Shao, Yunru, Novacic, Danica, Wolfe, Lynne, Wa

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.31 MB

english, 2018

9

Variants in ALX4 and Their Association with Genitourinary Defects

Chen, Ching H., Bournat, Juan C., Wilken, Nathan, Rosenfeld, Jill A., Zhang, Jason, Seth, Abhishek, Jorgez, Carolina J.

Journal:

Year:

2020

File:

PDF, 13.25 MB

2020

10

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

Kim, Hyung-Goo, Rosenfeld, Jill A., Scott, Daryl A., Bénédicte, Gerard, Labonne, Jonathan D., Brown, Jason, McGuire, Marianne, Mahida, Sonal, Naidu, Sakkubai, Gutierrez, Jacqueline, Lesca, Gaetan, des

Journal:

Molecular Autism

Year:

2019

Language:

english

File:

PDF, 12.50 MB

english, 2019

11

The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature

Callaway, Jonathan L. A., Shaffer, Lisa G., Chitty, Lyn S., Rosenfeld, Jill A., Crolla, John A.

Journal:

Prenatal Diagnosis

Year:

2013

Language:

english

File:

PDF, 395 KB

english, 2013

12

A copy number variation morbidity map of developmental delay

Cooper, Gregory M, Coe, Bradley P, Girirajan, Santhosh, Rosenfeld, Jill A, Vu, Tiffany H, Baker, Carl, Williams, Charles, Stalker, Heather, Hamid, Rizwan, Hannig, Vickie, Abdel-Hamid, Hoda, Bader, Pat

Journal:

Nature Genetics

Year:

2011

Language:

english

File:

PDF, 1.12 MB

english, 2011

13

Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

Rosenfeld, Jill A, Leppig, Kathleen, Ballif, Blake C, Thiese, Heidi, Erdie-Lalena, Christine, Bawle, Erwati, Sastry, Sujatha, Spence, J Edward, Bandholz, Anne, Surti, Urvashi, Zonana, Jonathan, Keller

Journal:

Genetics in Medicine

Year:

2009

Language:

english

File:

PDF, 1.02 MB

english, 2009

14

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Girirajan, Santhosh, Rosenfeld, Jill A, Cooper, Gregory M, Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom, McCarthy, Shane E, Baker, Carl

Journal:

Nature Genetics

Year:

2010

Language:

english

File:

PDF, 772 KB

english, 2010

15

Genetic Basis of Intellectual Disability

Ellison, Jay W., Rosenfeld, Jill A., Shaffer, Lisa G.

Journal:

Annual Review of Medicine

Year:

2013

Language:

english

File:

PDF, 401 KB

english, 2013

16

Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia

Gu, Shen, Chen, Chun‐An, Rosenfeld, Jill A., Cope, Heidi, Launay, Nathalie, Flanigan, Kevin, Waldrop, Megan, Schrader, Rachel, Juusola, Jane, Goker‐Alpan, Ozlem, Milunsky, Aubrey, Schlüter, Agatha, Tr

Journal:

Year:

2019

Language:

english

File:

PDF, 378 KB

english, 2019

17

A tale of two deletions: A report of two novel 20p13 → pter deletions

Anna K. McGill, Matthew T. Pastore, Gail E. Herman, Sarah Alliman, Jill A. Rosenfeld, David D. Weaver

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 330 KB

english, 2010

18

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44

Blake C. Ballif, Jill A. Rosenfeld, Ryan Traylor, Aaron Theisen, Patricia I. Bader, Roger L. Ladda, Susan L. Sell, Michelle Steinraths, Urvashi Surti, Marianne McGuire, Shelley Williams, Sandra A. Far

Journal:

Year:

2012

Language:

english

File:

PDF, 771 KB

english, 2012

19

MEF2CHaploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

Paciorkowski, Alex R., Traylor, Ryan N., Rosenfeld, Jill A., Hoover, Jacqueline M., Harris, Catharine J., Winter, Susan, Lacassie, Yves, Bialer, Martin, Lamb, Allen N., Schultz, Roger A., Berry-Kravis

Journal:

Year:

2013

Language:

english

File:

PDF, 833 KB

english, 2013

20

Corrigendum: A copy number variation morbidity map of developmental delay

Cooper, Gregory M, Coe, Bradley P, Girirajan, Santhosh, Rosenfeld, Jill A, Vu, Tiffany H, Baker, Carl, Williams, Charles, Stalker, Heather, Hamid, Rizwan, Hannig, Vickie, Abdel-Hamid, Hoda, Bader, Pat

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 131 KB

english, 2014

21

Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation

Brand, Harrison, Collins, Ryan L., Hanscom, Carrie, Rosenfeld, Jill A., Pillalamarri, Vamsee, Stone, Matthew R., Kelley, Fontina, Mason, Tamara, Margolin, Lauren, Eggert, Stacey, Mitchell, Elyse, Hodg

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.33 MB

english, 2015

22

Vulvovaginitis and Cervicitis

Rosenfeld, Walter D., Clark, Jill

Journal:

Pediatric Clinics of North America

Year:

1989

Language:

english

File:

PDF, 2.08 MB

english, 1989

23

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

Bashamboo, Anu, Donohoue, Patricia A., Vilain, Eric, Rojo, Sandra, Calvel, Pierre, Seneviratne, Sumudu N., Buonocore, Federica, Barseghyan, Hayk, Bingham, Nathan, Rosenfeld, Jill A., Mulukutla, Surya

Journal:

Human Molecular Genetics

Year:

2016

Language:

english

File:

PDF, 40 KB

english, 2016

24

6q25.1 ( TAB2 ) microdeletion syndrome: Congenital heart defects and cardiomyopathy

Cheng, Andrew, Dinulos, Mary Beth P., Neufeld-Kaiser, Whitney, Rosenfeld, Jill, Kyriss, McKenna, Madan-Khetarpal, Suneeta, Risheg, Hiba, Byers, Peter H., Liu, Yajuan J.

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 1.58 MB

english, 2017

25

Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma

Machol, Keren, Jankovic, Joseph, Vijayakumar, Dhanya, Burrage, Lindsay C., Jain, Mahim, Lewis, Richard A., Fuller, Gregory N., Xu, Mingchu, Penas-Prado, Marta, Gule-Monroe, Maria K., Rosenfeld, Jill A

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 391 KB

english, 2018

26

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

Beunders, Gea, Voorhoeve, Els, Golzio, Christelle, Pardo, Luba M., Rosenfeld, Jill A., Talkowski, Michael E., Simonic, Ingrid, Lionel, Anath C., Vergult, Sarah, Pyatt, Robert E., van de Kamp, Jiddeke,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.13 MB

english, 2013

27

Estimates of penetrance for recurrent pathogenic copy-number variations

Rosenfeld, Jill A., Coe, Bradley P., Eichler, Evan E., Cuckle, Howard, Shaffer, Lisa G.

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 338 KB

english, 2013

28

Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study

Cao, Ye, Li, Zhihua, Rosenfeld, Jill A., Pursley, Amber N., Patel, Ankita, Huang, Jin, Wang, Huilin, Chen, Min, Sun, Xiaofang, Leung, Tak Yeung, Cheung, Sau Wai, Choy, Kwong Wai

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 355 KB

english, 2016

29

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Posey, Jennifer E., Harel, Tamar, Liu, Pengfei, Rosenfeld, Jill A., James, Regis A., Coban Akdemir, Zeynep H., Walkiewicz, Magdalena, Bi, Weimin, Xiao, Rui, Ding, Yan, Xia, Fan, Beaudet, Arthur L., Mu

Journal:

New England Journal of Medicine

Year:

2017

Language:

english

File:

PDF, 1.06 MB

english, 2017

30

Cover Image, Volume 173A, Number 2, February 2017

Maussion, Gilles, Cruceanu, Cristiana, Rosenfeld, Jill A., Bell, Scott C., Jollant, Fabrice, Szatkiewicz, Jin, Collins, Ryan L., Hanscom, Carrie, Kolobova, Ilaria, de Champfleur, Nicolas Menjot, Blume

Journal:

American Journal of Medical Genetics Part A

Year:

2017

File:

PDF, 1.73 MB

2017

31

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Zhang, Jing, Gambin, Tomasz, Yuan, Bo, Szafranski, Przemyslaw, Rosenfeld, Jill A., Balwi, Mohammed Al, Alswaid, Abdulrahman, Al-Gazali, Lihadh, Shamsi, Aisha M. Al, Komara, Makanko, Ali, Bassam R., Ro

Journal:

Year:

2017

Language:

english

File:

PDF, 381 KB

english, 2017

32

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect

Metz, Kyle A, Teng, Xinchen, Coppens, Isabelle, Lamb, Heather M., Wagner, Bart E., Rosenfeld, Jill A., Chen, Xianghui, Zhang, Yu, Kim, Hee Jong, Meadow, Michael E., Wang, Tim Sen, Haberlandt, Edda D.,

Journal:

Annals of Neurology

Year:

2018

Language:

english

File:

PDF, 1.63 MB

english, 2018

33

Reanalysis of Clinical Exome Sequencing Data

Liu, Pengfei, Meng, Linyan, Normand, Elizabeth A., Xia, Fan, Song, Xiaofei, Ghazi, Andrew, Rosenfeld, Jill, Magoulas, Pilar L., Braxton, Alicia, Ward, Patricia, Dai, Hongzheng, Yuan, Bo, Bi, Weimin, X

Journal:

New England Journal of Medicine

Year:

2019

Language:

english

File:

PDF, 148 KB

english, 2019

34

Report of a mother and daughter with the 12q14 microdeletion syndrome

Audrey L. Bibb, Jill A. Rosenfeld, David D. Weaver

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 327 KB

english, 2012

35

Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions

Jill A. Rosenfeld, John A. Crolla, Susan Tomkins, Patricia Bader, Bernice Morrow, Jerome Gorski, Robin Troxell, Cynthia Forster-Gibson, Deirdre Cilliers, R. Gordon Hislop, Allen Lamb, Beth Torchia, Bl

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 434 KB

english, 2010

36

Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization

Repnikova, Elena A., Rosenfeld, Jill A., Bailes, Andrea, Weber, Cecilia, Erdman, Linda, McKinney, Aimee, Ramsey, Sarah, Hashimoto, Sayaka, Lamb Thrush, Devon, Astbury, Caroline, Reshmi, Shalini C., Sh

Journal:

Forensic Science International: Genetics

Year:

2013

Language:

english

File:

PDF, 1.25 MB

english, 2013

37

A 1.5Mb terminal deletion of 12p associated with autism spectrum disorder

Silva, Isabela M.W., Rosenfeld, Jill, Antoniuk, Sergio A., Raskin, Salmo, Sotomaior, Vanessa S.

Journal:

Year:

2014

Language:

english

File:

PDF, 512 KB

english, 2014

38

MP66-17 E2F1 AN IMPORTANT REGULATOR OF TESTICULAR DESCENT AND FERTILITY

Jorgez, Carolina, Wilken, Nathan, Rosenfeld, Jill, Lipshultz, Larry, Lamb, Dolores

Journal:

The Journal of Urology

Year:

2014

Language:

english

File:

PDF, 108 KB

english, 2014

39

Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III)

Weaver, David D., Norby, Audrey R., Rosenfeld, Jill A., Proud, Virginia K., Spangler, Brooke E., Ming, Jeffrey E., Chisholm, Elizabeth, Zackai, Elaine H., Lee, Beom Hee, Edelmann, Lisa, Desnick, Rober

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 1.45 MB

english, 2015

40

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Rosenfeld, Jill A, Traylor, Ryan N, Schaefer, G Bradley, McPherson, Elizabeth W, Ballif, Blake C, Klopocki, Eva, Mundlos, Stefan, Shaffer, Lisa G, Aylsworth, Arthur S

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 653 KB

english, 2012

41

NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

Gennarino, Vincenzo A, Alcott, Callison E, Chen, Chun-An, Chaudhury, Arindam, Gillentine, Madelyn A, Rosenfeld, Jill A, Parikh, Sumit, Wheless, James W, Roeder, Elizabeth R, Horovitz, Dafne DG, Roney,

Journal:

Year:

2015

Language:

english

File:

PDF, 2.36 MB

english, 2015

42

Review of the phenotypic spectrum associated with haploinsufficiency of MYRF

Rossetti, Linda Z., Glinton, Kevin, Yuan, Bo, Liu, Pengfei, Pillai, Nishitha, Mizerik, Elizabeth, Magoulas, Pilar, Rosenfeld, Jill A., Karaviti, Lefkothea, Sutton, Vernon R., Lalani, Seema R., Scott,

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 1.32 MB

english, 2019

43

Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay

Trilochan Sahoo, Aaron Theisen, Michael Marble, Raymond Tervo, Jill A. Rosenfeld, Beth S. Torchia, Lisa G. Shaffer

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 1.01 MB

english, 2011

44

Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing

George McGillivray, Jill A Rosenfeld, R. J. McKinlay Gardner, Lynn H. Gillam

Journal:

Prenatal Diagnosis

Year:

2012

Language:

english

File:

PDF, 110 KB

english, 2012

45

USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder

Hao, Yi-Heng, Fountain, Michael D., Fon Tacer, Klementina, Xia, Fan, Bi, Weimin, Kang, Sung-Hae L., Patel, Ankita, Rosenfeld, Jill A., Le Caignec, Cédric, Isidor, Bertrand, Krantz, Ian D., Noon, Sarah

Journal:

Year:

2015

Language:

english

File:

PDF, 4.02 MB

english, 2015

46

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

Yan, Kezhi, Rousseau, Justine, Littlejohn, Rebecca Okashah, Kiss, Courtney, Lehman, Anna, Rosenfeld, Jill A., Stumpel, Constance T.R., Stegmann, Alexander P.A., Robak, Laurie, Scaglia, Fernando, Nguye

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 2.84 MB

english, 2017

47

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy

Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Wigby, Kristen M., Baratang, Nissan V., Rousseau, Justine, St-Denis, Anik, Rosenfeld, Jill A., Laniewski, Stephanie C., Jones, Julie, Iglesias, Alejandro D.,

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.87 MB

english, 2018

48

Parental somatic mosaicism for CNV deletions â A need for more sensitive and precise detection methods in clinical diagnostics settings

Liu, Qian, Karolak, Justyna A., Grochowski, Christopher M., Wilson, Theresa A., Rosenfeld, Jill A., Bacino, Carlos A., Lalani, Seema R., Patel, Ankita, Breman, Amy, Smith, Janice L., Cheung, Sau Wai,

Journal:

Year:

2020

File:

PDF, 1.27 MB

2020

49

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Allen N. Lamb, Jill A. Rosenfeld, Nicholas J. Neill, Michael E. Talkowski, Ian Blumenthal, Santhosh Girirajan, Debra Keelean-Fuller, Zheng Fan, Jill Pouncey, Cathy Stevens, Loren Mackay-Loder, Deborah

Journal:

Year:

2012

Language:

english

File:

PDF, 475 KB

english, 2012

50

Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication

Megan Y. Dennis, Xander Nuttle, Peter H. Sudmant, Francesca Antonacci, Tina A. Graves, Mikhail Nefedov, Jill A. Rosenfeld, Saba Sajjadian, Maika Malig, Holland Kotkiewicz, Cynthia J. Curry, Susan Shaf

Journal:

Year:

2012

Language:

english

File:

PDF, 895 KB

english, 2012

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