Kwame Anyane-Yeboa

Kwame Anyane-Yeboa

UNVERIFIED PROFILE

Are you Kwame Anyane-Yeboa?   Register this Author

Register author
Kwame Anyane-Yeboa

Kwame Anyane-Yeboa

Publications by authors named "Kwame Anyane-Yeboa"

Are you Kwame Anyane-Yeboa?   Register this Author

51Publications

1723Reads

46Profile Views

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

Cold Spring Harb Mol Case Stud 2019 Jun 3;5(3). Epub 2019 Jun 3.

Department of Pediatrics, Columbia University, New York, New York 10032, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/mcs.a004101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549555PMC
June 2019

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

Am J Hum Genet 2019 May 18;104(5):990-993. Epub 2019 Apr 18.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.03.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506867PMC
May 2019

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.

Lancet 2019 02 31;393(10173):758-767. Epub 2019 Jan 31.

Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA; Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S0140-6736(18)32042-7DOI Listing
February 2019

Phylloid terminal hair nevus: A unique clinical entity.

Pediatr Dermatol 2018 Nov 28;35(6):e404-e405. Epub 2018 Aug 28.

Department of Dermatology, Columbia University Medical Center, New York, New York.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pde.13616DOI Listing
November 2018

Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.

Am J Med Genet A 2017 Dec 22;173(12):3158-3164. Epub 2017 Sep 22.

Department of Pediatrics, Division of Clinical Genetics, Columbia University Medical Center (CUMC), New York, New York.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38460DOI Listing
December 2017

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

J Hum Genet 2017 Apr 26;62(5):581-584. Epub 2017 Jan 26.

Institute for Cancer Genetics, Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY, USA.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/jhg20176
Publisher Site
http://dx.doi.org/10.1038/jhg.2017.6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5404952PMC
April 2017

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.3720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307971PMC
January 2017

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

J Pediatr Hematol Oncol 2016 10;38(7):e243-7

*Department of Pediatric Hematology/Oncology, Winthrop University Medical Center, Mineola †Division of Pediatric Gastroenterology, Hepatology, and Nutrition Departments of §Pediatric Hematology, Oncology and Stem Cell Transplantation ‡Pathology, Cell Biology, and Personalized Genomic Medicine ∥Pediatrics, Division of Clinical Genetics, Columbia University Medical center, New York, NY.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MPH.0000000000000660DOI Listing
October 2016

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

J Cell Sci 2016 05 31;129(10):1975-80. Epub 2016 Mar 31.

Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1242/jcs.187302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4878994PMC
May 2016

FTO variant associated with malformation syndrome.

Am J Med Genet A 2016 Apr 24;170A(4):1023-8. Epub 2015 Dec 24.

Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, New York.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37515DOI Listing
April 2016

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

Am J Med Genet A 2015 Dec 14;167A(12):3161-6. Epub 2015 Sep 14.

Department of Pediatrics, Columbia University Medical Center, New York.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37342DOI Listing
December 2015

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

Cold Spring Harb Mol Case Stud 2015 Oct;1(1):a000356

Department of Pediatrics, Columbia University Medical Center, New York, New York 10029, USA;; Department of Medicine, Columbia University Medical Center, New York, New York 10032, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/mcs.a000356DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4850890PMC
October 2015

Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings.

Fetal Diagn Ther 2014 21;36(1):74-80. Epub 2014 Feb 21.

Division of Clinical Genetics, Columbia University Medical Center, New York, N.Y., USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000357703DOI Listing
March 2015

The usefulness of whole-exome sequencing in routine clinical practice.

Genet Med 2014 Dec 5;16(12):922-31. Epub 2014 Jun 5.

1] Division of Molecular Genetics, Department of Pediatrics, Columbia University Medical Center, New York, New York, USA [2] Department of Medicine, Columbia University Medical Center, New York, New York, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2014.58DOI Listing
December 2014

Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency.

J Clin Immunol 2014 Aug 17;34(6):607-10. Epub 2014 Jun 17.

Division of Allergy and Immunology, Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-014-0067-7DOI Listing
August 2014

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

Int J Pediatr Endocrinol 2013 28;2013(1):11. Epub 2013 Jun 28.

Department of Pediatrics, Division of Pediatric Endocrinology, Columbia University Medical Center, PH5E-522, 622 West 168th Street, New York, NY 10032, USA ; Columbia University Medical Center, 622 West 168th Street, PH 5E-522, New York, NY 10032, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1687-9856-2013-11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3716959PMC
May 2014

Molecular diagnostic dilemmas in Rett syndrome.

Brain Dev 2012 Oct 25;34(9):750-5. Epub 2012 Jan 25.

Center for Molecular Biology and Pathology, Laboratory Corporation of America, Research Triangle Park, NC 27709, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.braindev.2011.12.012DOI Listing
October 2012

Retinoblastoma presenting in a child with hypomelanosis of Ito.

Open Ophthalmol J 2011 19;5:55-8. Epub 2011 Dec 19.

Department of Ophthalmology, Columbia University Medical Center, New York, NY, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2174/1874364101105010055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3249652PMC
February 2012

Duplication of the ZIC2 gene is not associated with holoprosencephaly.

Am J Med Genet A 2012 Jan 21;158A(1):103-8. Epub 2011 Nov 21.

Department of Pathology, Columbia University Medical Center, New York, New York, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.34375
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.34375DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3715301PMC
January 2012

A novel mutation causing pseudohypoparathyroidism 1A with congenital hypothyroidism and osteoma cutis.

J Clin Res Pediatr Endocrinol 2009 6;1(5):244-7. Epub 2009 Aug 6.

Department of Pediatrics, New York University Medical Center, New York 10016, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4274/jcrpe.v1i5.244DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005748PMC
December 2011

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

Am J Med Genet A 2009 Jun;149A(6):1310-4

Department of Pathology, Columbia University, New York, New York 10032, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32680DOI Listing
June 2009

Incidence of aortic root dilatation in pectus excavatum and its association with Marfan syndrome.

Arch Pediatr Adolesc Med 2008 Sep;162(9):882-5

Division of Pediatric Cardiology, Columbia University Medical Center, Morgan Stanley Children's Hospital of New York- Presbyterian, New York, New York, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archpedi.162.9.882DOI Listing
September 2008

Cutis verticis gyrata in a patient with Noonan syndrome.

Pediatr Dermatol 2005 Mar-Apr;22(2):142-6

Department of Dermatology, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1525-1470.2005.22211.xDOI Listing
December 2005

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

Genet Med 2005 Feb;7(2):111-8

Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.109701.GIM.0000153661.11110.FBDOI Listing
February 2005

Networks of attention in children with the 22q11 deletion syndrome.

Dev Neuropsychol 2004 ;26(2):611-26

Laboratory of Human Neurogenetics, The Rockefeller University, New York, NY 10021, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1207/s15326942dn2602_5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2753367PMC
November 2004

Paternal germline mosaicism in Herlitz junctional epidermolysis bullosa.

Exp Dermatol 2002 Oct;11(5):468-70

Department of Dermatology, Division of Clinical Genetics, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.

View Article

Download full-text PDF

Source
October 2002

Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).

Neuromuscul Disord 2002 Feb;12(2):159-66

Division of Medical Genetics, Department of Medicine, New York University School of Medicine, 550 First Avenue, New York, NY 10016, USA.

View Article

Download full-text PDF

Source
February 2002