Lorraine Potocki

Eur J Med Genet 2020 Jan 20;63(1):103633. Epub 2019 Feb 20.

Baylor College of Medicine, Department of Pediatrics, USA; Baylor College of Medicine, Renal Section, Department of Pediatrics, and Texas Children's Hospital, USA. Electronic address:

Sci Adv 2020 01 22;6(4):eaax0021. Epub 2020 Jan 22.

Rosalind and Morris Goodman Cancer Research Center, McGill University, Montreal, Quebec H3A 1A3, Canada.

J Pediatr Genet 2019 Dec 9;8(4):244-251. Epub 2019 Jul 9.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.

Genet Med 2019 10 3;21(10):2355-2363. Epub 2019 Apr 3.

PEDEGO Research Unit and Medical Research Centre Oulu, University of Oulu and Oulu University Hospital, Oulu, Finland.

Am J Med Genet A 2019 Oct 24;179(10):1982-1986. Epub 2019 Jul 24.

Texas Children's Hospital, Baylor College of Medicine, Houston, Texas.

Am J Med Genet A 2019 07 8;179(7):1366-1370. Epub 2019 May 8.

Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida.

Blood 2018 08 21;132(6):658-662. Epub 2018 May 21.

Laboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.

Am J Med Genet A 2018 07 19;176(7):1683-1687. Epub 2018 May 19.

Department of Neurology, Baylor College of Medicine, Houston, Texas.

JAMA Pediatr 2017 12 4;171(12):e173438. Epub 2017 Dec 4.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

Clin Pediatr (Phila) 2017 07 25;56(8):795-797. Epub 2016 Nov 25.

1 Baylor College of Medicine, Houston, TX, USA.

Am J Med Genet A 2017 Mar 27;173(3):716-720. Epub 2017 Jan 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

Genome Med 2017 03 21;9(1):26. Epub 2017 Mar 21.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.

Am J Med Genet A 2017 Feb 21;173(2):541-545. Epub 2016 Nov 21.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

Genet Med 2017 01 19;19(1):45-52. Epub 2016 May 19.

Interdepartmental Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, Texas, USA.

Am J Hum Genet 2017 Jan 8;100(1):91-104. Epub 2016 Dec 8.

Rosalind & Morris Goodman Cancer Research Center and Department of Medicine, McGill University, Montreal, QC H3A 1A3, Canada; Department of Biochemistry, McGill University and McGill University Health Center, Montreal, QC H3A 1A3, Canada. Electronic address:

Hum Genet 2016 10 7;135(10):1161-74. Epub 2016 Jul 7.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.

Am J Hum Genet 2016 Oct 15;99(4):831-845. Epub 2016 Sep 15.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

Muscle Nerve 2016 Apr 22;53(4):648-52. Epub 2016 Feb 22.

Department of Pediatric Neurology, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, 77030, USA.

Am J Med Genet A 2016 Mar 14;170(3):694-8. Epub 2015 Nov 14.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

Am J Hum Genet 2015 Nov;97(5):691-707

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

J Pediatr Genet 2015 Sep 28;4(3):159-67. Epub 2015 Sep 28.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States; Texas Children's Hospital, Houston, Texas, United States.

Am J Med Genet A 2014 Dec 24;164A(12):3021-6. Epub 2014 Sep 24.

Baylor College of Medicine, Houston, Texas.

Am J Med Genet A 2014 Feb 5;164A(2):500-4. Epub 2013 Dec 5.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; Texas Children's Hospital, Houston, Texas.

Hum Mol Genet 2013 Nov 16;22(21):4339-48. Epub 2013 Jun 16.

Department of Molecular and Human Genetics.

Nat Genet 2013 Nov 29;45(11):1405-8. Epub 2013 Sep 29.

1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. [2] Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA. [3].

J Genet Couns 2013 Oct 25;22(5):633-42. Epub 2013 May 25.

Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Texas Medical School at Houston, 6410 Fannin St., Ste. 1217, Houston, TX, USA, 77030,

Am J Hum Genet 2013 Aug 27;93(2):197-210. Epub 2013 Jun 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Eur J Hum Genet 2013 Feb 29;21(2):173-81. Epub 2012 Aug 29.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

PLoS Genet 2012 24;8(5):e1002713. Epub 2012 May 24.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.

Genet Med 2012 Jan 17;14(1):90-4. Epub 2011 Oct 17.

Section of Pediatric Cardiology, Texas Children's Hospital, Houston, Texas, USA.

Genet Med 2012 Jan 26;14(1):163-7. Epub 2011 Sep 26.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

Int J Pediatr Endocrinol 2011 6;2011(1). Epub 2011 Jul 6.

Endocrinology section-Department of Pediatrics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

Am J Med Genet A 2011 Aug 7;155A(8):2024-7. Epub 2011 Jul 7.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

J Allergy Clin Immunol 2011 Jun 22;127(6):1579-86. Epub 2011 Apr 22.

Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.

Am J Med Genet A 2011 May 4;155A(5):1165-9. Epub 2011 Apr 4.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

J Pediatr 2011 Apr 17;158(4):655-659.e2. Epub 2010 Dec 17.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Eur J Hum Genet 2011 Apr 19;19(4):400-8. Epub 2011 Jan 19.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

Clin Dysmorphol 2011 Apr;20(2):77-81

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

Am J Med Genet A 2011 Feb 13;155A(2):363-6. Epub 2011 Jan 13.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

Hum Mutat 2010 Dec 2;31(12):1326-42. Epub 2010 Nov 2.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

Am J Med Genet A 2010 Nov;152A(11):2854-60

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

Hum Mutat 2010 Jul;31(7):840-50

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

J Dev Behav Pediatr 2010 Feb-Mar;31(2):137-43

Division of Child and Adolescent Psychiatry, The Menninger Department of Psychiatry and Behavioral Sciences, Baylor College of Medicine, Houston, TX 77030-2399, USA.

Am J Med Genet A 2010 May;152A(5):1066-78

Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

Eur J Hum Genet 2010 Apr 18;18(4):429-35. Epub 2009 Nov 18.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, Nijmegen 6500 HB, The Netherlands.

Am J Med Genet A 2010 Mar;152A(3):565-72

Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA.

Am J Hum Genet 2010 Mar 25;86(3):462-70. Epub 2010 Feb 25.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Clin Dysmorphol 2009 Jul;18(3):166-7

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

Am J Med Genet A 2009 Mar;149A(3):515-8

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

J Child Neurol 2008 Jan;23(1):73-8

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

Am J Hum Genet 2007 Apr 26;80(4):633-49. Epub 2007 Feb 26.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Am J Med Genet A 2006 Nov;140(22):2454-63

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas 77030-3498, USA.

J Dev Behav Pediatr 2006 Jun;27(3):188-92

Meyer Center for Developmental Pediatrics, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, TX 77030, USA.

J Child Neurol 2006 Feb;21(2):93-8

Department of Neurology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.

Am J Med Genet A 2005 Oct;138A(2):175-80

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

Am J Med Genet A 2005 Sep;138(1):56-60

Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston 77030, USA.

Am J Med Genet A 2005 Jul;136(2):218

Eur J Hum Genet 2005 May;13(5):528-40

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Hum Genet 2004 Nov 30;115(6):515-24. Epub 2004 Sep 30.

Department of Molecular and Human Genetics, Baylor College of Medicine, Room 604B, One Baylor Plaza, Houston, TX 77030-3498, USA.

Pediatr Dermatol 2003 Nov-Dec;20(6):538-40

Department of Dermatology, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas 77030, USA.

Genet Med 2003 Nov-Dec;5(6):430-4

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

J Perinatol 2004 Feb;24(2):121-3

Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.

Genet Med 2002 May-Jun;4(3):118-25

Medical Genetics Branch, National Human Genome Research Institute, NIH, Bldg. 10, Room 10C103, 10 Center Drive, MSC 1875, Bethesda, MD 20892-1875, USA.

Hum Mol Genet 2003 Aug;12(15):1823-37

Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA.

Am J Med Genet A 2003 Apr;118A(2):384-9

Department of Molecular and Human Genetics, Baylor College of Medicine, Room S434, One Baylor Plaza, Houston, TX 77030, USA.

Pediatr Radiol 2003 Mar 12;33(3):173-6. Epub 2002 Nov 12.

Department of Diagnostic Imaging, Texas Children's Hospital, 6621 Fannin Street, MC2-2521, Houston 77030, USA.

Adv Otorhinolaryngol 2002 ;61:124-30

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Md., USA.

Am J Med Genet 2002 Nov;112(4):384-9

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

Prenat Diagn 2002 Nov;22(11):1028-32

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Genome Res 2002 May;12(5):713-28

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.