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1

Orthopaedic Management of Leg-length Discrepancy in Proteus Syndrome

Crenshaw, Molly M., Goerlich, Cara G., Ivey, Lauren E., Sapp, Julie C., Keppler-Noreuil, Kim M., Scott, Allison C., Biesecker, Leslie G., Tosi, Laura L.

Journal:

Journal of Pediatric Orthopaedics

Year:

2018

Language:

english

File:

PDF, 237 KB

english, 2018

2

Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)

Kim M Keppler-Noreuil, Catherine Blumhorst, Julie C Sapp, Danielle Brinckman, Jennifer Johnston, Peggy C Nopoulos, Leslie G Biesecker

Journal:

BMC Medical Genetics

Year:

2011

Language:

english

File:

PDF, 189 KB

english, 2011

3

Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome

Keppler-Noreuil, Kim M., Sapp, Julie C., Lindhurst, Marjorie J., Darling, Thomas N., Burton-Akright, Jasmine, Bagheri, Mohammadhadi, Dombi, Eva, Gruber, Ashlyn, Jarosinski, Paul F., Martin, Staci, Nat

Journal:

The American Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 553 KB

english, 2019

4

Characterization of thrombosis in patients with Proteus syndrome

Keppler-Noreuil, Kim M., Lozier, Jay N., Sapp, Julie C., Biesecker, Leslie G.

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 611 KB

english, 2017

5

Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms tumor in PIK3CA-related overgrowth spectrum (PROS)

Biderman Waberski, Marta, Lindhurst, Marjorie, Keppler-Noreuil, Kim M, Sapp, Julie C, Baker, Laura, Gripp, Karen W, Adams, Denise M, Biesecker, Leslie G

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 251 KB

english, 2018

6

Chromosome 18q paracentric inversion in a family with mental retardation and hearing loss

Keppler-Noreuil, Kim M., Carroll, Andrew J., Finley, Sara C., Descartes, Maria, Cody, Jannine D., DuPont, Barbara R., Gay, Charles T., Leach, Robin J.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 357 KB

english, 1998

7

OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): A review of 14 cases

Kim M. Keppler-Noreuil

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 287 KB

english, 2001

8

Craniosynostosis: Another feature of the 22q11.2 deletion syndrome

Donna M. McDonald-McGinn, Karen W. Gripp, Richard E. Kirschner, Melissa K. Maisenbacher, Virginia Hustead, Galen M. Schauer, Kim M. Keppler-Noreuil, Karen L. Ciprero, Patrick Pasquariello Jr., Don LaR

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 200 KB

english, 2005

9

Behavioral management of a long-term survivor with tetrasomy 18p

Hanes M. Swingle, Joel Ringdahl, Royann Mraz, Shivanand Patil, Kim Keppler-Noreuil

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 195 KB

english, 2006

10

Clinical features and management issues in Mowat–Wilson syndrome

Margaret P. Adam, Susan Schelley, Renata Gallagher, April N. Brady, Kimberly Barr, Bruce Blumberg, Joseph T.C. Shieh, John Graham, Anne Slavotinek, Madelena Martin, Kim Keppler-Noreuil, Andrea L. Stor

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 327 KB

english, 2006

11

Prenatal ascertainment of OEIS complex/cloacal exstrophy—15 new cases and literature review

Kim Keppler-Noreuil, Sue Gorton, Florence Foo, Jerome Yankowitz, Catherine Keegan

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 94 KB

english, 2007

12

Syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation: Two additional cases

Kim Keppler-Noreuil, Judy Welch, Katherine Baker-Lange

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 261 KB

english, 2007

13

Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication

Christopher N. Vlangos, Amanda Siuniak, Todd Ackley, Hans van Bokhoven, Joris Veltman, Ram Iyer, John M. Park, Kim Keppler-Noreuil, Catherine E. Keegan

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 242 KB

english, 2011

14

Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy)

Kim M. Keppler-Noreuil, Margaret P. Adam, Judy Welch, Ann Muilenburg, Marcia C. Willing

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 263 KB

english, 2011

15

A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features

Andrew B. Cyr, Manjunath Nimmakayalu, Susannah Q. Longmuir, Shivanand R. Patil, Kim M. Keppler-Noreuil, Oleg A. Shchelochkov

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 377 KB

english, 2011

16

Guidelines for case classification for the national birth defects prevention study

Sonja A. Rasmussen, Richard S. Olney, Lewis B. Holmes, Angela E. Lin, Kim M. Keppler-Noreuil, Cynthia A. Moore

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2003

Language:

english

File:

PDF, 173 KB

english, 2003

17

Developmental delay and multiple congenital anomalies in a child with a unique combination of partial monosomy 18 and partial trisomy 16

Nicole Schmidt, Don C Van Dyke, Kim Keppler-Noreuil, Ann Muilenburg, Shivanand Patil, Adam B Kanis

Journal:

Developmental Medicine & Child Neurology

Year:

2001

Language:

english

File:

PDF, 75 KB

english, 2001

18

Atypical Down syndrome phenotype with severe developmental delay, hypertonia, and seizures in a child with translocation trisomy 21

Kim M Keppler-Noreuil, Judy L Welch, Heather J Major, Q Qiau, Diane K Jordan

Journal:

Developmental Medicine & Child Neurology

Year:

2002

Language:

english

File:

PDF, 70 KB

english, 2002

19

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain

Gibbons, Richard J., Bachoo, Satvinder, Picketts, David J., Aftimos, Salim, Asenbauer, Bernhard, Bergoffen, JoAnn, Berry, Susan A., Dahl, Niklas, Fryer, Alan, Keppler, Kim

Journal:

Nature Genetics

Year:

1997

File:

PDF, 484 KB

1997

20

Terminal deletion of the long arm of chromosome 4 in a mother and two sons

Maria Descartes, Kim Keppler-Noreuil, Judith Knops, John W. Longshore, Wayne H. Finley, Andrew J. Carroll

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 376 KB

english, 1996

21

In vitro fertilization is associated with an increase in major birth defects

Christine K. Olson, Kim M. Keppler-Noreuil, Paul A. Romitti, William T. Budelier, Ginny Ryan, Amy E.T. Sparks, Bradley J. Van Voorhis

Journal:

Fertility and Sterility

Year:

2005

Language:

english

File:

PDF, 112 KB

english, 2005

22

Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model

Carter, Calvin S, Vogel, Timothy W, Zhang, Qihong, Seo, Seongjin, Swiderski, Ruth E, Moninger, Thomas O, Cassell, Martin D, Thedens, Daniel R, Keppler-Noreuil, Kim M, Nopoulos, Peggy, Nishimura, Darry

Journal:

Nature Medicine

Year:

2012

Language:

english

File:

PDF, 3.23 MB

english, 2012

23

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

Paciorkowski, Alex R., Keppler-Noreuil, Kim, Robinson, Luther, Sullivan, Christopher, Sajan, Samin, Christian, Susan L., Bukshpun, Polina, Gabriel, Stacy B., Gleeson, Joseph G., Sherr, Elliott H., Dob

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 1.99 MB

english, 2013

24

Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

Shaheen, Ranad, Aglan, Mona, Keppler-Noreuil, Kim, Faqeih, Eissa, Ansari, Shinu, Horton, Kim, Ashour, Adel, Zaki, Maha S., Al-Zahrani, Fatema, Cueto-González, Anna M., Abdel-Salam, Ghada, Temtamy, Sam

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 956 KB

english, 2013

25

Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome

Brinckman, Danielle D., Keppler-Noreuil, Kim M., Blumhorst, Catherine, Biesecker, Leslie G., Sapp, Julie C., Johnston, Jennifer J., Wiggs, Edythe A.

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 456 KB

english, 2013

26

Clinical delineation and natural history of the PIK3CA -related overgrowth spectrum

Keppler-Noreuil, Kim M., Sapp, Julie C., Lindhurst, Marjorie J., Parker, Victoria E.R., Blumhorst, Cathy, Darling, Thomas, Tosi, Laura L., Huson, Susan M., Whitehouse, Richard W., Jakkula, Eveliina, G

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 4.11 MB

english, 2014

27

Sensenbrenner syndrome (Cranioectodermal dysplasia): Clinical and molecular analyses of 39 patients including two new patients

Lin, Angela E., Traum, Avram Z., Sahai, Inderneel, Keppler-Noreuil, Kim, Kukolich, Mary K., Adam, Margaret P., Westra, Sjirk J., Arts, Heleen H.

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 1.97 MB

english, 2013

28

Functional Analysis of a De Novo ACTB Mutation in a Patient with Atypical Baraitser-Winter Syndrome

Johnston, Jennifer J., Wen, Kuo-Kuang, Keppler-Noreuil, Kim, McKane, Melissa, Maiers, Jessica L., Greiner, Alexander, Sapp, Julie C., DeMali, Kris A., Rubenstein, Peter A., Biesecker, Leslie G.

Journal:

Year:

2013

Language:

english

File:

PDF, 997 KB

english, 2013

29

Apparent Germline Mosaicism for a Novel 19p13.13 Deletion Disrupting NFIX and CACNA1A

Nimmakayalu, Manjunath, Horton, V. Kim, Darbro, Ben, Patil, Shivanand R., Alsayouf, Hamza, Keppler-Noreuil, Kim, Shchelochkov, Oleg A.

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 844 KB

english, 2013

30

PIK3CA -related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

Keppler-Noreuil, Kim M., Rios, Jonathan J., Parker, Victoria E.R., Semple, Robert K., Lindhurst, Marjorie J., Sapp, Julie C., Alomari, Ahmad, Ezaki, Marybeth, Dobyns, William, Biesecker, Leslie G.

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 825 KB

english, 2015

31

Variable Presentation of Cytochrome c Oxidase Deficiency

Journal:

Archives of Pediatrics and Adolescent Medicine

Year:

1992

Language:

english

File:

PDF, 3.50 MB

english, 1992

32

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome

Johnston, Jennifer J., Sanchez-Contreras, Monica Y., Keppler-Noreuil, Kim M., Sapp, Julie, Crenshaw, Molly, Finch, NiCole A., Cormier-Daire, Valerie, Rademakers, Rosa, Sybert, Virginia P., Biesecker,

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 2.06 MB

english, 2015

33

Vpx mediated degradation of SAMHD1 has only a very limited effect on lentiviral transduction rate in ex vivo cultured HSPCs

Li, Duo, Schlaepfer, Erika, Audigé, Annette, Rochat, Mary-Aude, Ivic, Sandra, Knowlton, Caitlin N., Kim, Baek, Keppler, Oliver T., Speck, Roberto F.

Journal:

Stem Cell Research

Year:

2015

Language:

english

File:

PDF, 1.27 MB

english, 2015

34

No SEVI-mediated enhancement of rectal HIV-1 transmission of HIV-1 in two humanized mouse cohorts

Dis, Erik S. Van, Moore, Tyler C., Lavender, Kerry J., Messer, Ronald J., Keppler, Oliver T., Verheyen, Jens, Dittmer, Ulf, Hasenkrug, Kim J.

Journal:

Year:

2016

Language:

english

File:

PDF, 1.18 MB

english, 2016

35

Towards targeting anticancer drugs: Ruthenium(II)-arene complexes with biologically active naphthoquinone-derived ligand systems

Kubanik, Mario, Kandioller, Wolfgang, Kim, Kunwoo, Anderson, Robert, Klapproth, Erik, Jakupec, Michael, Roller, Alexander, Soehnel, Tilo, Keppler, Bernhard K, Hartinger, Christian

Journal:

Dalton Transactions

Year:

2016

Language:

english

File:

PDF, 1.48 MB

english, 2016

36

Risk factors for Dandy-Walker malformation: A population-based assessment

Reeder, Matthew R., Botto, Lorenzo D., Keppler-Noreuil, Kim M., Carey, John C., Byrne, Janice L. B., Feldkamp, Marcia L.

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 226 KB

english, 2015

37

Binder Phenotype

Keppler-Noreuil, Kim M., Wenzel, Tanner J.

Journal:

Journal of Craniofacial Surgery

Year:

2010

Language:

english

File:

PDF, 684 KB

english, 2010

38

Somatic AKT1 mutations cause meningiomas colocalizing with a characteristic pattern of cranial hyperostosis

Keppler-Noreuil, Kim M., Baker, Eva H., Sapp, Julie C., Lindhurst, Marjorie J., Biesecker, Leslie G.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 695 KB

english, 2016

39

Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies

Keppler-Noreuil, Kim M., Parker, Victoria E.R., Darling, Thomas N., Martinez-Agosto, Julian A.

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2016

Language:

english

File:

PDF, 1.49 MB

english, 2016

40

Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway

Nathan, Neera, Keppler-Noreuil, Kim M., Biesecker, Leslie G., Moss, Joel, Darling, Thomas N.

Journal:

Dermatologic Clinics

Year:

2017

Language:

english

File:

PDF, 981 KB

english, 2017

41

Twinning and major birth defects, National Birth Defects Prevention Study, 1997–2007

Dawson, April L, Tinker, Sarah C, Jamieson, Denise J, Hobbs, Charlotte A, Berry, R J, Rasmussen, Sonja A, Anderka, Marlene, Keppler-Noreuil, Kim M, Lin, Angela E, Reefhuis, Jennita

Journal:

Journal of Epidemiology & Community Health

Year:

2016

Language:

english

File:

PDF, 285 KB

english, 2016

42

Health-related quality of life in patients with cleft palate: validity and reliability of the VPI Effects on Life Outcomes (VELO) questionnaire translated to Dutch

Bruneel, Laura, Lierde, Kristiane Van, Bettens, Kim, Corthals, Paul, Poel, Esther Van, Groote, Evelien De, Keppler, Hannah

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2017

Language:

english

File:

PDF, 751 KB

english, 2017

43

37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting

Keppler-Noreuil, Kim M., Martinez-Agosto, Julian A., Hudgins, Louanne, Carey, John C.

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 800 KB

english, 2017

44

Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral–facial–digital anomalies

Wentzensen, Ingrid M, Johnston, Jennifer J, Keppler-Noreuil, Kim, Acrich, Karina, David, Karen, Johnson, Kisha D, Graham, John M, Sapp, Julie C, Biesecker, Leslie G

Journal:

Human Genome Variation

Year:

2015

Language:

english

File:

PDF, 493 KB

english, 2015

45

Clinical and risk factor analysis of cloacal defects in the National Birth Defects Prevention Study

Keppler-Noreuil, Kim M., Conway, Kristin M., Shen, Dereck, Rhoads, Anthony J., Carey, John C., Romitti, Paul A.

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 453 KB

english, 2017

46

Pathogenetic insights from quantification of the cerebriform connective tissue nevus in Proteus syndrome

Nathan, Neera R., Patel, Rachna, Crenshaw, Molly M., Lindhurst, Marjorie J., Olsen, Cara, Biesecker, Leslie G., Keppler-Noreuil, Kim M., Darling, Thomas N.

Journal:

Journal of the American Academy of Dermatology

Year:

2017

Language:

english

File:

PDF, 7.19 MB

english, 2017

47

Descriptive epidemiology of cerebellar hypoplasia in the National Birth Defects Prevention Study

Howley, Meredith M., Keppler-Noreuil, Kim M., Cunniff, Christopher M., Browne, Marilyn L.

Journal:

Birth Defects Research

Year:

2018

Language:

english

File:

PDF, 1.64 MB

english, 2018

48

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

Parker, Victoria E. R., Keppler-Noreuil, Kim M., Faivre, Laurence, Luu, Maxime, Oden, Neal L., De Silva, Leena, Sapp, Julie C., Andrews, Katrina, Bardou, Marc, Chen, Kong Y., Darling, Thomas N., Gauti

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 1.28 MB

english, 2018

49

Characterization of the hepatosplenic and portal venous findings in patients with Proteus syndrome

Takyar, Varun, Khattar, Divya, Ling, Alexander, Patel, Rachna, Sapp, Julie C., Kim, Sun A., Auh, Sungyoung, Biesecker, Leslie G., Keppler-Noreuil, Kim M., Heller, Theo

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 3.37 MB

english, 2018

50

Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes

Reutter, Heiko, Keppler-Noreuil, Kim, E. Keegan, Catherine, Thiele, Holger, Yamada, Gen, Ludwig, Michael

Journal:

Current Genomics

Year:

2015

Language:

english

File:

PDF, 395 KB

english, 2015