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1

Preliminary definition of a “critical region” of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature

Stephen Brown, Steven Gersen, Kwame Anyane-Yeboa, Dr. Dorothy Warburton

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 1.52 MB

english, 1993

2

Incidence of Aortic Root Dilatation in Pectus Excavatum and Its Association With Marfan Syndrome

Rhee, Diane, Solowiejczyk, David, Altmann, Karen, Prakash, Ashwin, Gersony, Welton M., Stolar, Charles, Kleinman, Charles, Anyane-Yeboa, Kwame, Chung, Wendy K., Hsu, Daphne

Journal:

Archives of Pediatrics and Adolescent Medicine

Year:

2008

Language:

english

File:

PDF, 113 KB

english, 2008

3

10.1038/71743

Lupski, James R., Potocki, Lorraine, Chen, Ken-Shiung, Park, Sung-Sup, Osterholm, Doreen E., Withers, Marjorie A., Kimonis, Virginia, Summers, Anne M., Meschino, Wendy S., Anyane-Yeboa, Kwame, Kashork

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 284 KB

english, 2000

4

Tetratricopeptide Repeat Domain 7A (TTC7A) Mutation in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency

Agarwal, Niti Sardana, Northrop, Lesley, Anyane-Yeboa, Kwame, Aggarwal, Vimla S., Nagy, Peter L., Demirdag, Yesim Yilmaz

Journal:

Journal of Clinical Immunology

Year:

2014

Language:

english

File:

PDF, 1.12 MB

english, 2014

5

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: Case Report and Review of Prenatal Ultrasonographic Findings

Tuzovic, Lea, Anyane-Yeboa, Kwame, Mills, Ashley, Glassberg, Kenneth, Miller, Russell

Journal:

Fetal Diagnosis and Therapy

Year:

2014

Language:

english

File:

PDF, 637 KB

english, 2014

6

Mutations in the Cholesterol Transporter Gene ABCA5 Are Associated with Excessive Hair Overgrowth

DeStefano, Gina M., Kurban, Mazen, Anyane-Yeboa, Kwame, Dall'Armi, Claudia, Di Paolo, Gilbert, Feenstra, Heather, Silverberg, Nanette, Rohena, Luis, López-Cepeda, Larissa D., Jobanputra, Vaidehi, Fant

Journal:

Year:

2014

Language:

english

File:

PDF, 6.78 MB

english, 2014

7

Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome

Dangiolo, Silvana Beatriz, Wilson, Ashley, Jobanputra, Vaidehi, Anyane-Yeboa, Kwame

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 228 KB

english, 2015

8

FTO variant associated with malformation syndrome

Rohena, Luis, Lawson, Michelle, Guzman, Edwin, Ganapathi, Mythily, Cho, Megan T., Haverfield, Eden, Anyane-Yeboa, Kwame

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 263 KB

english, 2016

9

CCR4-NOT transcription complex, subunit 1 (CNOT1) Variant Associated with Holoprosencephaly

Kruszka, Paul, Berger, Seth I., Weiss, Karin, Everson, Joshua L., Martinez, Ariel F., Hong, Sungkook, Anyane-Yeboa, Kwame, Lipinski, Robert J., Muenke, Maximilian

Journal:

The American Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 543 KB

english, 2019

10

Acute myeloid leukemia as the first hematologic manifestation of fanconi anemia

Dr. Arleen D. Auerbach, Michael A. Weiner, Dorothy Warburton, Kwame Yeboa, Li Lu, Hal E. Broxmeyer

Journal:

American Journal of Hematology

Year:

1982

Language:

english

File:

PDF, 1.45 MB

english, 1982

11

Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH

Sibel Kantarci, Kate G. Ackerman, Meaghan K. Russell, Mauro Longoni, Carrie Sougnez, Kristin M. Noonan, Eli Hatchwell, Xiaoyun Zhang, Rafael Pieretti Vanmarcke, Kwame Anyane-Yeboa, Paul Dickman, Jay W

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 566 KB

english, 2010

12

Caveat to genotype–phenotype correlation in mucopolysaccharidosis type II: Discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene

Chester B. Whitley, Rose Ann Anderson, Elena L. Aronovich, Paul L. Crotty, Kwame Anyane-Yeboa, Donna Russo, Dorothy Warburton

Journal:

Year:

1993

Language:

english

File:

PDF, 259 KB

english, 1993

13

Changes in an inherited ring (22) due to meiotic recombination? Implications for genetic counseling

Vaidehi Jobanputra, Erin Ash, Kwame Anyane-Yeboa, Dorothy Warburton, Brynn Levy

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 193 KB

english, 2009

14

Cerebro-Oculo-Facio-Skeletal Syndrome with a Nucleotide Excision–Repair Defect and a Mutated XPD Gene, with Prenatal Diagnosis in a Triplet Pregnancy

John M. Graham Jr, Kwame Anyane-Yeboa, Anja Raams, Esther Appeldoorn, Wim J. Kleijer, Victor H. Garritsen, David Busch, Terri G. Edersheim, Nicolaas G.J. Jaspers

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 516 KB

english, 2001

15

NEUROPSYCHOLOGICAL CHARACTERISTICS OF CHILDREN WITH THE 22Q11 DELETION SYNDROME: A DESCRIPTIVE ANALYSIS

Sobin, Christina, Kiley-Brabeck, Karen, Daniels, Sarah, Khuri, Jananne, Taylor, Lisa, Blundell, Maude, Anyane-Yeboa, Kwame, Karayiorgou, Maria

Journal:

Child Neuropsychology

Year:

2005

Language:

english

File:

PDF, 137 KB

english, 2005

16

Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase

Sparling, David P., Fabian, Kendra, Harik, Lara, Jobanputra, Vaidehi, Anyane-Yeboa, Kwame, Oberfield, Sharon E., Fennoy, Ilene

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2016

Language:

english

File:

PDF, 400 KB

english, 2016

17

Homozygous non-canonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delays

Okur, Volkan, LeDuc, Charles A., Guzman, Edwin, Valivullah, Zaheer M., Anyane-Yeboa, Kwame, Chung, Wendy K.

Journal:

Molecular Case Studies

Year:

2019

Language:

english

File:

PDF, 585 KB

english, 2019

18

DAX1 Mutations Map to Putative Structural Domains in a Deduced Three-Dimensional Model

Yao-Hua Zhang, Weiwen Guo, Richard L. Wagner, Bing-Ling Huang, Linda McCabe, Eric Vilain, Thomas P. Burris, Kwame Anyane-Yeboa, Arthur H.M. Burghes, David Chitayat, Albert E. Chudley, Myron Genel, Jos

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 404 KB

english, 1998

19

Networks of Attention in Children With the 22q11 Deletion Syndrome

Sobin, Christina, Kiley-Brabeck, Karen, Daniels, Sarah, Blundell, Maude, Anyane-Yeboa, Kwame, Karayiorgou, Maria

Journal:

Developmental Neuropsychology

Year:

2004

Language:

english

File:

PDF, 110 KB

english, 2004

20

Pediatric Secrets || Genetics

Anyane-Yeboa, Kwame

Year:

2011

Language:

english

File:

PDF, 445 KB

english, 2011

21

Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture

Kathleen Harrison, Katerina Eisenger, Kwame Anyane-Yeboa, Dr. Stephen Brown

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 521 KB

english, 1995

22

New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation

Roohi, Jasmin, Crowe, Jennifer, Loredan, Denis, Anyane-Yeboa, Kwame, Mansukhani, Mahesh M, Omesi, Lenore, Levine, Jennifer, Revah Politi, Anya, Zha, Shan

Journal:

Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 184 KB

english, 2017

23

The proximal chromosome 14q microdeletion syndrome: Delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature

Edina Torgyekes, Alan L. Shanske, Kwame Anyane-Yeboa, Odelia Nahum, Sara Pirzadeh, Einat Blumfield, Vaidehi Jobanputra, Dorothy Warburton, Brynn Levy

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 1.15 MB

english, 2011

24

First-Trimester Transvaginal Ultrasonographic Diagnosis of Dandy-Walker Malformation

Sherer, David M., Shane, Heather, Anyane-Yeboa, Kwame

Journal:

American Journal of Perinatology

Year:

2001

Language:

english

File:

PDF, 101 KB

english, 2001

25

888 ACUTE MYELOMONOCYTIC LEUKEMIA AS THE FIRST HEMATOLOGIC MANIFESTATION IN A PATIENT WITH FANCONI ANEMIA

Weiner, Michael, Yeboa, Kwame, Warburton, Dorothy, Auerbach, Arleen, Wolff, James A

Journal:

Pediatric Research

Year:

1981

Language:

english

File:

PDF, 163 KB

english, 1981

26

Duplication of the ZIC2 gene is not associated with holoprosencephaly

Vaidehi Jobanputra, Alanna Burke, Anyane-Yeboa Kwame, Anita Shanmugham, Maryam Shirazi, Stephen Brown, Peter E. Warburton, Brynn Levy, Dorothy Warburton

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 209 KB

english, 2012

27

Dystonia in a patient with deletion of 18q

Dr. Mark Forrest Gordon, Susan Bressman, Mitchell F. Brin, Deborah de Leon, Dorothy Warburton, Kwame Yeboa, Stanley Fahn

Journal:

Movement Disorders

Year:

1995

Language:

english

File:

PDF, 347 KB

english, 1995

28

Rare inheritance of Leri-Weill Syndrome due to crossover of short stature Homeobox Gene (SHOX) Deletions between X and Y Chromosomes: a case report

Marisa Censani, Kwame Anyane-Yeboa…

Journal:

International Journal of Pediatric Endocrinology

Year:

2013

Language:

english

File:

PDF, 525 KB

english, 2013

29

A critical assessment of work and family life of female entrepreneurs in Sub-Saharan Africa

Adom, Kwame, Asare-Yeboa, Irene Tiwaa, Quaye, Daniel M., Ampomah, Abena Oforiwaa

Journal:

Journal of Small Business and Enterprise Development

Year:

2017

Language:

english

File:

PDF, 250 KB

english, 2017

30

Clinical Spectrum of Capillary Malformation-Arteriovenous Malformation Syndrome Presenting to a Pediatric Dermatology Practice: A Retrospective Study

Weitz, Nicole A., Lauren, Christine T., Behr, Gerald G., Wu, June K., Kandel, Jessica J., Meyers, Philip M., Sultan, Sally, Anyane-Yeboa, Kwame, Morel, Kimberly D., Garzon, Maria C.

Journal:

Pediatric Dermatology

Year:

2015

Language:

english

File:

PDF, 390 KB

english, 2015

31

Phenotypic Heterogeneity of Neutropenia and Gastrointestinal Illness Associated with G6PC3 Founder Mutation

Glasser, Chana L., Picoraro, Joseph A., Jain, Preti, Kinberg, Sivan, Rustia, Evelyn, Gross Margolis, Kara, Anyane-Yeboa, Kwame, Iglesias, Alejandro D., Green, Nancy S.

Journal:

Journal of Pediatric Hematology/Oncology

Year:

2016

Language:

english

File:

PDF, 202 KB

english, 2016

32

Coding Mutations in p57KIP2 Are Present in Some Cases of Beckwith-Wiedemann Syndrome but Are Rare or Absent in Wilms Tumors

Denise O'Keefe, Diem Dao, Long Zhao, Rhonda Sanderson, Dorothy Warburton, Lawrence Weiss, Kwame Anyane-Yeboa, Benjamin Tycko

Journal:

The American Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 1.09 MB

english, 1997

33

Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita

Yao-Hua Zhang, Bing-Ling Huang, Kwame Anyane-Yeboa, Julienne A.R. Carvalho, Robert D. Clemons, Trevor Cole, Bonald C. De Figueiredo, Mark Lubinsky, Daniel L. Metzger, Roberto Quadrelli, David R. Repas

Journal:

Year:

2001

Language:

english

File:

PDF, 28 KB

english, 2001

34

Maternal Germline Mosaicism in Dominant Dystrophic Epidermolysis Bullosa

Cserhalmi-Friedman, Peter B., Garzon, Maria C., Guzman, Edwin, Martinez-Mir, Amalia, Chung, Wendy K., Anyane-Yeboa, Kwame, Christiano, Angela M.

Journal:

The Journal of Investigative Dermatology

Year:

2001

Language:

english

File:

PDF, 64 KB

english, 2001

35

Lumbar gibbus in storage diseases and bone dysplasias

Terry L. Levin, W. E. Berdon, Ralph S. Lachman, Kwame Anyane-Yeboa, Carrie Ruzal-Shapiro, David P. Roye Jr.

Journal:

Pediatric Radiology

Year:

1997

Language:

english

File:

PDF, 644 KB

english, 1997

36

De novo mutations in PURA are associated with hypotonia and developmental delay

Tanaka, Akemi J., Bai, Renkui, Cho, Megan T., Anyane-Yeboa, Kwame, Ahimaz, Priyanka, Wilson, Ashley L., Kendall, Fran, Hay, Beverly, Moss, Timothy, Nardini, Monica, Bauer, Mislen, Retterer, Kyle, Juus

Journal:

Molecular Case Studies

Year:

2015

Language:

english

File:

PDF, 1.06 MB

english, 2015

37

Familial X-Linked Acrogigantism: Postnatal Outcomes and Tumor Pathology in a Prenatally Diagnosed Infant and His Mother

Wise-Oringer, Brittany K, Zanazzi, George J, Gordon, Rebecca J, Wardlaw, Sharon L, William, Christopher, Anyane-Yeboa, Kwame, Chung, Wendy K, Kohn, Brenda, Wisoff, Jeffrey H, David, Raphael, Oberfield

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2019

Language:

english

File:

PDF, 1.56 MB

english, 2019

38

Cutis Verticis Gyrata in a Patient with Noonan Syndrome

Lindy Peta Fox, Adam S. Geyer, Kwame Anyane-Yeboa, Maria C. Garzon

Journal:

Pediatric Dermatology

Year:

2005

Language:

english

File:

PDF, 111 KB

english, 2005

39

Distal duplication 14q: Report of three cases and further delineation of the syndrome

Susan L. Sklower, Edmund C. Jenkins, Sarah L. Nolin, Charlotte J. Duncan, Dorothy Warburton, Kwame Anyane Yeboa, Alice Merkrebs, Robin Schwartz, Krystyna Wisniewski, Cyrus Stimson, W. Brown

Journal:

Year:

1984

Language:

english

File:

PDF, 453 KB

english, 1984

40

The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease

Warburton, Dorothy, Ronemus, Michael, Kline, Jennie, Jobanputra, Vaidehi, Williams, Ismee, Anyane-Yeboa, Kwame, Chung, Wendy, Yu, Lan, Wong, Nancy, Awad, Danielle, Yu, Chih-yu, Leotta, Anthony, Kendal

Journal:

Year:

2014

Language:

english

File:

PDF, 318 KB

english, 2014

41

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

Petrovski, Slavé, Küry, Sébastien, Myers, Candace T., Anyane-Yeboa, Kwame, Cogné, Benjamin, Bialer, Martin, Xia, Fan, Hemati, Parisa, Riviello, James, Mehaffey, Michele, Besnard, Thomas, Becraft, Emil

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 510 KB

english, 2016

42

Complete Agenesis of the Soft Palate

Ascherman, Jeffrey A., Jones, Valerie A., Manduley, Robert A., Yeboa, Kwame

Journal:

The Cleft Palate-Craniofacial Journal

Year:

2001

Language:

english

File:

PDF, 315 KB

english, 2001

43

Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities

Rodan, Lance H., Anyane-Yeboa, Kwame, Chong, Karen, Klein Wassink-Ruiter, Jolien S., Wilson, Ashley, Smith, Lacey, Kothare, Sanjeev V., Rajabi, Farrah, Blaser, Susan, Ni, Min, DeBerardinis, Ralph J.,

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 2.00 MB

english, 2018

44

Mosaic tetrasomy 12p: Four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister-Mosaic syndrome cases

Dr. Dorothy Warburton, Kwame Anyane-Yeboa, Uta Francke, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 851 KB

english, 1987

45

Complete Agenesis of the Soft Palate

Ascherman, Jeffrey A., Jones, Valerie A., Manduley, Robert A., Yeboa, Kwame

Journal:

The Cleft Palate-Craniofacial Journal

Year:

2001

File:

PDF, 312 KB

2001

46

Homozygous non-canonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delays

Okur, Volkan, LeDuc, Charles A., Guzman, Edwin, Valivullah, Zaheer M., Anyane-Yeboa, Kwame, Chung, Wendy K.

Journal:

Molecular Case Studies

Year:

2019

File:

PDF, 585 KB

2019

47

A Novel Mutation Causing Pseudohypoparathyroidism 1A with Congenital Hypothyroidism and Osteoma Cutis

Lubell, Tamar, Garzon, Maria, Anyane-Yeboa, Kwame, Shah, Bina

Journal:

Journal of Clinical Research in Pediatric Endocrinology

Year:

2009

Language:

english

File:

PDF, 104 KB

english, 2009

48

Complete Agenesis of the Soft Palate

Ascherman, Jeffrey A., Jones, Valerie A., Manduley, Robert A., Yeboa, Kwame

Journal:

The Cleft Palate-Craniofacial Journal

Year:

2001

Language:

english

File:

PDF, 312 KB

english, 2001

49

Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements

Jobanputra, Vaidehi, Sebat, Jonathan, Troge, Jennifer, Chung, Wendy, Anyane-Yeboa, Kwame, Wigler, Michael, Warburton, Dorothy

Journal:

Genetics in Medicine

Year:

2005

Language:

english

File:

PDF, 1.72 MB

english, 2005

50

Phylloid terminal hair nevus: A unique clinical entity

Kittler, Nicole W., Antonov, Nina K., Scripps, Tessa B., Anyane-Yeboa, Kwame, Garzon, Maria C., Lauren, Christine T.

Journal:

Pediatric Dermatology

Year:

2018

Language:

english

File:

PDF, 513 KB

english, 2018

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