Publications by authors named "David Bick"

59Publications

An online compendium of treatable genetic disorders.

Am J Med Genet C Semin Med Genet 2020 Dec 22. Epub 2020 Dec 22.

Genomics England Ltd., London, UK.

View Article and Find Full Text PDF
December 2020

Design and Reporting Considerations for Genetic Screening Tests.

J Mol Diagn 2020 05 22;22(5):599-609. Epub 2020 Feb 22.

Hudson Alpha Institute for Biotechnology, Huntsville, Alabama.

View Article and Find Full Text PDF
May 2020

Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?

Am J Med Genet A 2020 05 8;182(5):1217-1222. Epub 2020 Feb 8.

Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia.

View Article and Find Full Text PDF
May 2020

Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases.

J Med Genet 2019 12 25;56(12):783-791. Epub 2019 Apr 25.

Illumina Inc, San Diego, California, USA.

View Article and Find Full Text PDF
December 2019

Response to Biesecker and Harrison.

Genet Med 2018 12;20(12):1689-1690

Partners Laboratory for Molecular Medicine and Department of Pathology, Brigham & Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.

View Article and Find Full Text PDF
December 2018

Mosaic Trisomy 9p in a Patient with Mild Dysmorphic Features and Normal Intelligence.

J Assoc Genet Technol 2017 ;43(2):56-58

Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin.

View Article and Find Full Text PDF
January 2017

A Mastoid Mass With Associated Pulmonary Cystic Lesions.

JAMA Otolaryngol Head Neck Surg 2016 Mar;142(3):295-6

Department of Otolaryngology, Tufts Medical Center, Boston, Massachusetts.

View Article and Find Full Text PDF
March 2016

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Hum Mutat 2015 Nov 21;36(11):1052-63. Epub 2015 Aug 21.

Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama.

View Article and Find Full Text PDF
November 2015

EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.

Birth Defects Res A Clin Mol Teratol 2015 Jul 27;103(7):630-40. Epub 2015 Jun 27.

Department of Pediatrics and Children's Research Institute at the Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, Wisconsin.

View Article and Find Full Text PDF
July 2015

A scalp lesion with intracranial extension. Atretic cephalocele.

JAMA Otolaryngol Head Neck Surg 2015 Mar;141(3):289-90

Divisions of Pediatric Otolaryngology and Facial Plastic & Reconstructive Surgery, Floating Hospital for Children-Tufts Medical Center, Boston, Massachusetts.

View Article and Find Full Text PDF
March 2015

Ethical issues in DNA sequencing in the neonate.

Clin Perinatol 2014 Dec 23;41(4):993-1000. Epub 2014 Sep 23.

Medical College of Wisconsin, 8701 West Watertown Plank Road, Milwaukee, WI 53226, USA.

View Article and Find Full Text PDF
December 2014

A simplified method for screening siblings for HLA identity using short tandem repeat (STR) polymorphisms.

Hum Immunol 2013 May 4;74(5):562-6. Epub 2013 Jan 4.

Histocompatibility and Immunogenetics Laboratory, BloodCenter of Wisconsin, 638 N. 18th Street, Milwaukee, WI 53201-2178, USA.

View Article and Find Full Text PDF
May 2013

The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.

Fertil Steril 2011 Dec 28;96(6):1424-1430.e6. Epub 2011 Oct 28.

Section of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and Gynecology, Institute of Molecular Medicine and Genetics, Neuroscience Program, Georgia Health Sciences University, Augusta, Georgia 30912, USA.

View Article and Find Full Text PDF
December 2011

Whole exome and whole genome sequencing.

Curr Opin Pediatr 2011 Dec;23(6):594-600

Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.

View Article and Find Full Text PDF
December 2011

A timely arrival for genomic medicine.

Genet Med 2011 Mar;13(3):195-6

Department of Pediatrics, Section of Gastroenterology, Division of Pediatric Surgery, The Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, Wisconsin, USA.

View Article and Find Full Text PDF
March 2011

Successful congenital heart surgery for a toddler with idiopathic infantile arterial calcification.

Pediatr Cardiol 2010 Oct 16;31(7):1096-9. Epub 2010 Jun 16.

Herma Heart Center, Children's Hospital of Wisconsin, Milwaukee, WI, 53226, USA.

View Article and Find Full Text PDF
October 2010

Is it the patient or the IVF? Beckwith-Wiedemann syndrome in both spontaneous and assisted reproductive conceptions.

Fertil Steril 2010 Jul 24;94(2):754.e1-2. Epub 2010 Mar 24.

Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Medical College of Wisconsin, Milwaukee, WI 53226, USA.

View Article and Find Full Text PDF
July 2010

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Am J Hum Genet 2008 Oct 2;83(4):511-9. Epub 2008 Oct 2.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, and Department of Genetics, Harvard Medical School, Boston, MA 02114, USA.

View Article and Find Full Text PDF
October 2008

Preimplantation HLA haplotyping using tri-, tetra-, and pentanucleotide short tandem repeats for HLA matching.

J Assist Reprod Genet 2008 Jul 2;25(7):323-31. Epub 2008 Aug 2.

Division of Medical Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI 53226, USA.

View Article and Find Full Text PDF
July 2008

The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Mol Hum Reprod 2008 Jun 7;14(6):367-70. Epub 2008 May 7.

Section of Endocrinology, Diabetes and Metabolism, Department of Medicine, The Medical College of Georgia, Augusta, GA, USA.

View Article and Find Full Text PDF
June 2008

Preimplantation genetic diagnosis: technology and clinical applications.

WMJ 2007 May;106(3):145-51

Department of Obstetrics and Gynecology, Medical College of Wisconsin, Froedtert Hospital, 9200 W Wisconsin Ave, Milwaukee WI, 53226, USA.

View Article and Find Full Text PDF
May 2007

KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans.

Mol Hum Reprod 2007 Mar 9;13(3):165-70. Epub 2007 Jan 9.

Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center, Dallas, TX, USA.

View Article and Find Full Text PDF
March 2007

Preimplantation genetic diagnosis.

Pediatr Clin North Am 2006 Aug;53(4):559-77

Division of Medical Genetics, Department of Pediatrics, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA.

View Article and Find Full Text PDF
August 2006

Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism.

Fertil Steril 2006 Mar;85(3):706-13

Division of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and Gynecology, Medical College of Georgia, Augusta, Georgia 30912-3360, USA.

View Article and Find Full Text PDF
March 2006

The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism.

Fertil Steril 2005 Oct;84(4):951-7

Division of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and Gynecology, Medical College of Georgia, Augusta, Georgia, USA.

View Article and Find Full Text PDF
October 2005

Interstitial deletion of chromosome 12q: genotype-phenotype correlation of two patients utilizing array comparative genomic hybridization.

Am J Med Genet A 2005 Nov;138(4):349-54

Department of Pediatrics, Division of Medical Genetics, University of California San Francisco, San Francisco, California 94115, USA.

View Article and Find Full Text PDF
November 2005