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

von Lubell, Tamar, Garzon, Maria, Anyane−Yeboa, Kwame, Shah, Bina
Veröffentlicht 2009

Homozygosity for Multiple Contiguous Single-Nucleotide Polymorphisms as an Indicator of Large Heterozygous Deletions: Identification of a Novel Heterozygous 8-kb Intragenic Deletio...

von Huie, Maryann L., Anyane-Yeboa, Kwame, Guzman, Edwin, Hirschhorn, Rochelle
Veröffentlicht 2002

Networks of Attention in Children With the 22q11 Deletion Syndrome

von Sobin, Christina, Kiley-Brabeck, Karen, Daniels, Sarah, Blundell, Maude, Anyane-Yeboa, Kwame, Karayiorgou, Maria
Veröffentlicht 2004

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

von Censani, Marisa, Anyane-Yeboa, Kwame, Wapner, Ronald, Spiegel, Erica, Guzman, Edwin, Oberfield, Sharon E
Veröffentlicht 2013

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

von Sparling, David P., Fabian, Kendra, Harik, Lara, Jobanputra, Vaidehi, Anyane-Yeboa, Kwame, Oberfield, Sharon E., Fennoy, Ilene
Veröffentlicht in J Pediatr Endocrinol Metab (2016)

Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay

von Okur, Volkan, LeDuc, Charles A., Guzman, Edwin, Valivullah, Zaheer M., Anyane-Yeboa, Kwame, Chung, Wendy K.
Veröffentlicht in Cold Spring Harb Mol Case Stud (2019)

NEUROPSYCHOLOGICAL CHARACTERISTICS OF CHILDREN WITH THE 22q11 DELETION SYNDROME: A DESCRIPTIVE ANALYSIS

von Sobin, Christina, Kiley-Brabeck, Karen, Daniels, Sarah, Khuri, Jananne, Taylor, Lisa, Blundell, Maude, Anyane-Yeboa, Kwame, Karayiorgou, Maria
Veröffentlicht 2005

Retinoblastoma Presenting in a Child with Hypomelanosis of Ito

von El-Sawy, Tarek, He, Lingmin, Chiang, Michael F, Anyane-Yeboa, Kwame, Morel, Kimberly D, Folberg, Robert, Marr, Brian P, Abramson, David
Veröffentlicht 2011

New Diagnosis of Atypical Ataxia-Telangiectasia in a 17-Year-Old Boy with T-Cell Acute Lymphoblastic Leukemia and a Novel ATM mutation

von Roohi, Jasmin, Crowe, Jennifer, Loredan, Denis, Anyane-Yeboa, Kwame, Mansukhani, Mahesh M., Omesi, Lenore, Levine, Jennifer, Politi, Anya Revah, Zha, Shan
Veröffentlicht in J Hum Genet (2017)

A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly

von Kruszka, Paul, Berger, Seth I., Weiss, Karin, Everson, Joshua L., Martinez, Ariel F., Hong, Sungkook, Anyane-Yeboa, Kwame, Lipinski, Robert J., Muenke, Maximilian
Veröffentlicht in Am J Hum Genet (2019)

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

von Graham, Jr., John M., Anyane-Yeboa, Kwame, Raams, Anja, Appeldoorn, Esther, Kleijer, Wim J., Garritsen, Victor H., Busch, David, Edersheim, Terri G., Jaspers, Nicolaas G. J.
Veröffentlicht 2001

Prenatal diagnosis of sickle hemoglobinopathies: The experience of the Columbia university comprehensive center for sickle cell disease

von Driscoll, M. Catherine, Lerner, Norma, Anyane-Yeboa, Kwame, Maidman, Jack, Warburton, Dorothy, Schaefer-Rego, Kim, Hsu, Ruth, Ince, Carol, Malin, Joanne, Pallai, Michele, Mears, J. Gregory, Bank, Arthur
Veröffentlicht 1987

A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder

von Wang, Yuexia, Lichter-Konecki, Uta, Anyane-Yeboa, Kwame, Shaw, Jessica E., Lu, Jonathan T., Östlund, Cecilia, Shin, Ji-Yeon, Clark, Lorraine N., Gundersen, Gregg G., Nagy, Peter L., Worman, Howard J.
Veröffentlicht in J Cell Sci (2016)

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

von 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, Sharon E
Veröffentlicht in J Clin Endocrinol Metab (2019)

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

von 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, Juusola, Jane, Chung, Wendy K.
Veröffentlicht in Cold Spring Harb Mol Case Stud (2015)

Characterization of the Chromosome 1q41q42.12 region, and the Candidate Gene DISP1, in Patients with CDH

von Kantarci, Sibel, Ackerman, Kate G, Russell, Meaghan N, Longoni, Mauro, Sougnez, Carrie, Noonan, Kristin M, Hatchwell, Eli, Zhang, Xiaoyun, Vanmarcke, Rafael Pieretti, Anyane-Yeboa, Kwame, Dickman, Paul, Wilson, Jay, Donahoe, Patricia K, Pober, Barbara R
Veröffentlicht 2010

CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy

von Behr, Gerald G, Liberman, Leonardo, Compton, Jocelyn, Garzon, Maria C, Morel, Kimberly D, Lauren, Christine T, Starc, Thomas J, Kovacs, Stephen J, Beltroni, Vincent, Landres, Rachel, Anyane-Yeboa, Kwame, Meyers, Philip M, Bacha, Emile, Kandel, Jessica J
Veröffentlicht 2012

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 hear...

von 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, Kendall, Jude, Yamrom, Boris, Lee, Yoon-ha, Wigler, Michael, Levy, Dan
Veröffentlicht 2013

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

von 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, Fantauzzo, Katherine A., Kiuru, Maija, Tadin-Strapps, Marija, Sobrino, Antonio, Vitebsky, Anna, Warburton, Dorothy, Levy, Brynn, Salas-Alanis, Julio C., Christiano, Angela M.
Veröffentlicht 2014

Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact

von Wynn, Julia, Ottman, Ruth, Duong, Jimmy, Wilson, Ashley L, Ahimaz, Priyanka, Martinez, Josue, Rabin, Rachel, Rosen, Emily, Webster, Rachel, Au, Catherine, Cho, Megan T., Egan, Claire, Guzman, Edwin, Primiano, Michelle, Shaw, Jessica E, Sisson, Rebecca, Klitzman, Robert L., Appelbaum, Paul S., Lichter-Konecki, Uta, Anyane-Yeboa, Kwame, Iglesias, Alejandro, Chung, Wendy K.
Veröffentlicht in Clin Genet (2018)