Carlos A Bacino

Carlos A Bacino

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Carlos A Bacino

Carlos A Bacino

Publications by authors named "Carlos A Bacino"

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SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 Jul 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.

N Engl J Med 2019 07 18;381(1):25-35. Epub 2019 Jun 18.

From Murdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne, Parkville, VIC, Australia (R.S.); Guy's and St. Thomas' NHS Foundation Trust, Evelina Children's Hospital, London (M.I.); Baylor College of Medicine, Houston (C.A.B., B.B.); Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago (J.C.); the Medical Genetics Department, Université Paris Descartes-Sorbonne Paris Cité, INSERM Unité Mixte de Recherche 1163, Institute Imagine, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Paris (V.C.-D., K.-H.L.Q.S.); Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance (P.D.), University of California, San Francisco, Benioff Children's Hospital Oakland, Oakland (P.H.), and BioMarin Pharmaceutical, Novato (A.C., K.J., G.S.J., K.L., M.L.C.) - all in California; Vanderbilt University Medical Center, Nashville (J.P., N.O.); BioMarin, London (A.H.L., J.D.); and Johns Hopkins University School of Medicine, Baltimore (J.H.-F.).

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http://dx.doi.org/10.1056/NEJMoa1813446DOI Listing
July 2019

Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly.

Eur J Med Genet 2019 Jun 22;62(6):103531. Epub 2018 Aug 22.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children Hospital, Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.08.012DOI Listing
June 2019

Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.

Am J Med Genet A 2019 Mar 19;179(3):475-479. Epub 2018 Dec 19.

Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.61007DOI Listing
March 2019

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Am J Hum Genet 2019 Feb 10;104(2):319-330. Epub 2019 Jan 10.

Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369415PMC
February 2019

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.

N Engl J Med 2018 11 10;379(22):2131-2139. Epub 2018 Oct 10.

From Harvard Medical School (K.S., C.E., I.S.K., J.L., A.T.M., D.A.S.), Brigham and Women's Hospital (J.L.), and Massachusetts General Hospital (D.A.S.) - all in Boston; the National Institutes of Health Clinical Center (D.R.A., W.A.G., J.J.M., C.J.T.) and the National Human Genome Research Institute (A.L.W.), Bethesda, and the University of Maryland, College Park (A.M.C.-J., B.K., L.P.) - all in Maryland; Baylor College of Medicine, Houston (C.A.B., H.J.B., C.M.E., B.H.L., X.L., M.F.W., S.Y.); Stanford University, Stanford (J.A.B., C.R., M.T.W., E.A.A.), and the University of California, Los Angeles, Los Angeles (S.F.N., C.G.S.P.) - both in California; Vanderbilt University, Nashville (R.H., J.A.P.); HudsonAlpha Institute for Biotechnology, Huntsville, AL (H.J.J., E.A.W.); Oregon Health and Science University, Portland (D.M.K.); the Pacific Northwest National Laboratory, Richland, WA (T.O.M.); the University of Oregon, Eugene (J.H.P., M.W.); and Duke University, Durham, NC (V.S., N.M.W.).

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http://www.nejm.org/doi/10.1056/NEJMoa1714458
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http://dx.doi.org/10.1056/NEJMoa1714458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481166PMC
November 2018

Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency.

Neurology 2018 09 15;91(11):e1077-e1082. Epub 2018 Aug 15.

From the Department of Neurology (J.V.), University of Copenhagen, Denmark; Department of Neurology (O.A., S.D.), Columbia University, New York, NY; Department of Neurology (J.A.), St. Olavs Hospital; NTNU (J.A.), Trondheim, Norway; Department of Pediatrics (S.G.K.), University of Arkansas School for Medical Sciences, Little Rock; Department of Molecular and Human Genetics (C.A.B.), Baylor College of Medicine, Houston, TX; Neuromuscular Center (R.G.H.), Institute for Exercise and Environmental Medicine of Texas Health Presbyterian Hospital; and Department of Neurology and Neurotherapeutics (R.G.H.), University of Texas Southwestern Medical Center, Dallas.

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http://dx.doi.org/10.1212/WNL.0000000000006165DOI Listing
September 2018

The expanding neurological phenotype of DNM1L-related disorders.

Brain 2018 04;141(4):e28

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

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http://dx.doi.org/10.1093/brain/awy024DOI Listing
April 2018

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

Am J Hum Genet 2017 Nov;101(5):833-843

Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673623PMC
November 2017

Severe Pancytopenia in a Premature Infant.

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

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

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http://dx.doi.org/10.1177/0009922816678817DOI Listing
July 2017

An Organismal CNV Mutator Phenotype Restricted to Early Human Development.

Cell 2017 02;168(5):830-842.e7

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

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http://dx.doi.org/10.1016/j.cell.2017.01.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5407901PMC
February 2017

Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation.

Am J Med Genet A 2016 11 13;170(11):3028-3032. Epub 2016 Jul 13.

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

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http://dx.doi.org/10.1002/ajmg.a.37847DOI Listing
November 2016

4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions.

Am J Med Genet A 2016 10 10;170(10):2540-50. Epub 2016 Jun 10.

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

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http://dx.doi.org/10.1002/ajmg.a.37796DOI Listing
October 2016

Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.

Hum Mol Genet 2016 05 29;25(9):1846-56. Epub 2016 Feb 29.

Department of Molecular and Human Genetics, Neurological Research Institute, Texas Children Hospital, Houston, TX 77030, USA

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http://dx.doi.org/10.1093/hmg/ddw059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5007591PMC
May 2016

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Authors:
Przemyslaw Szafranski Tomasz Gambin Avinash V Dharmadhikari Kadir Caner Akdemir Shalini N Jhangiani Jennifer Schuette Nihal Godiwala Svetlana A Yatsenko Jessica Sebastian Suneeta Madan-Khetarpal Urvashi Surti Rosanna G Abellar David A Bateman Ashley L Wilson Melinda H Markham Jill Slamon Fernando Santos-Simarro María Palomares Julián Nevado Pablo Lapunzina Brian Hon-Yin Chung Wai-Lap Wong Yoyo Wing Yiu Chu Gary Tsz Kin Mok Eitan Kerem Joel Reiter Namasivayam Ambalavanan Scott A Anderson David R Kelly Joseph Shieh Taryn C Rosenthal Kristin Scheible Laurie Steiner M Anwar Iqbal Margaret L McKinnon Sara Jane Hamilton Kamilla Schlade-Bartusiak Dawn English Glenda Hendson Elizabeth R Roeder Thomas S DeNapoli Rebecca Okashah Littlejohn Daynna J Wolff Carol L Wagner Alison Yeung David Francis Elizabeth K Fiorino Morris Edelman Joyce Fox Denise A Hayes Sandra Janssens Elfride De Baere Björn Menten Anne Loccufier Lieve Vanwalleghem Philippe Moerman Yves Sznajer Amy S Lay Jennifer L Kussmann Jasneek Chawla Diane J Payton Gael E Phillips Erwin Brosens Dick Tibboel Annelies de Klein Isabelle Maystadt Richard Fisher Neil Sebire Alison Male Maya Chopra Jason Pinner Girvan Malcolm Gregory Peters Susan Arbuckle Melissa Lees Zoe Mead Oliver Quarrell Richard Sayers Martina Owens Charles Shaw-Smith Janet Lioy Eileen McKay Nicole de Leeuw Ilse Feenstra Liesbeth Spruijt Frances Elmslie Timothy Thiruchelvam Carlos A Bacino Claire Langston James R Lupski Partha Sen Edwina Popek Paweł Stankiewicz

Hum Genet 2016 May 12;135(5):569-586. Epub 2016 Apr 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s00439-016-1655-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518754PMC
May 2016

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

Hum Mol Genet 2015 Jul 23;24(14):4061-77. Epub 2015 Apr 23.

Department of Molecular & Human Genetics, Department of Pediatrics and Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA, Texas Children's Hospital, Houston, TX 77030, USA and

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http://dx.doi.org/10.1093/hmg/ddv146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4476451PMC
July 2015

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Am J Hum Genet 2015 May;96(5):841-9

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570285PMC
May 2015

Etiopathogenesis of equinovarus foot malformations.

Eur J Med Genet 2014 Aug 13;57(8):473-9. Epub 2014 Jun 13.

University of Texas Medical School at Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.06.001DOI Listing
August 2014

Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.

J Pediatr Gastroenterol Nutr 2014 Jul;59(1):17-21

*Department of Molecular and Human Genetics †Department of Pediatrics ‡Human Genome Sequencing Center §Section of Pediatric Pathology, Department of Pathology, Baylor College of Medicine, Houston, TX.

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http://dx.doi.org/10.1097/MPG.0000000000000363DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4203304PMC
July 2014

Isolated fetal macrodactyly: phenotypic and genetic disparities in mosaic overgrowth syndrome.

J Ultrasound Med 2014 Jul;33(7):1305-7

Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Lenox Hill Hospital, New York, New York USA (E.B., K.D., R.M., M.Y.D.); Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas USA (C.A.B., K.M.).

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http://doi.wiley.com/10.7863/ultra.33.7.1305
Publisher Site
http://dx.doi.org/10.7863/ultra.33.7.1305DOI Listing
July 2014

Lysinuric Protein Intolerance Presenting with Multiple Fractures.

Mol Genet Metab Rep 2014 ;1:176-183

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Suite R814, Houston, TX, 77030-3411, USA ; Howard Hughes Medical Institute, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2014.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4235665PMC
January 2014

Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.

Am J Med Genet A 2013 Dec 2;161A(12):2953-63. Epub 2013 Oct 2.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; Department of Pediatrics-Hematology-Oncology, Baylor College of Medicine and Texas Children's Cancer Center, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.35886DOI Listing
December 2013

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

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.

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http://www.cell.com/cms/attachment/2024885301/2044552963/mmc
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http://linkinghub.elsevier.com/retrieve/pii/S000292971300269
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2013.05.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738832PMC
August 2013

Early childhood presentation of Czech dysplasia.

Clin Dysmorphol 2013 Apr;22(2):76-80

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

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http://dx.doi.org/10.1097/MCD.0b013e32835fff39DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3673284PMC
April 2013

Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability.

Eur J Med Genet 2013 Feb 5;56(2):108-13. Epub 2012 Dec 5.

Institute of Human Genetics, University Hospital Magdeburg, Leipziger Str. 44, 39120 Magdeburg, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212120030
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http://dx.doi.org/10.1016/j.ejmg.2012.11.001DOI Listing
February 2013

Does short bowel syndrome increase the risk of food allergy and eosinophilic gastrointestinal disease? Observations in Shah-Waardenburg syndrome.

J Allergy Clin Immunol 2013 Jan 21;131(1):251-5. Epub 2012 Nov 21.

Immunology, Allergy, and Rheumatology Section, Department of Medicine, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.jaci.2012.08.053DOI Listing
January 2013

WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype.

Am J Med Genet A 2012 Nov 17;158A(11):2917-24. Epub 2012 Sep 17.

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

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http://dx.doi.org/10.1002/ajmg.a.35608DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4000731PMC
November 2012

De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome.

Am J Med Genet A 2012 Oct 17;158A(10):2557-63. Epub 2012 Aug 17.

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

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http://dx.doi.org/10.1002/ajmg.a.35549DOI Listing
October 2012

Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome.

Am J Med Genet A 2012 Aug 18;158A(8):1891-6. Epub 2012 Jun 18.

Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.35439DOI Listing
August 2012

Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature.

Prenat Diagn 2012 Apr;32(4):351-61

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

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http://dx.doi.org/10.1002/pd.3861DOI Listing
April 2012

WDR62 missense mutation in a consanguineous family with primary microcephaly.

Am J Med Genet A 2012 Mar 3;158A(3):622-5. Epub 2012 Feb 3.

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

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http://dx.doi.org/10.1002/ajmg.a.34417DOI Listing
March 2012

A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH).

Am J Med Genet A 2011 Dec 3;155A(12):3071-4. Epub 2011 Nov 3.

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

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http://dx.doi.org/10.1002/ajmg.a.34296DOI Listing
December 2011

Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q.

Am J Med Genet A 2011 Jun 12;155A(6):1465-8. Epub 2011 May 12.

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

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http://dx.doi.org/10.1002/ajmg.a.33935DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3651890PMC
June 2011

Alterations in white matter pathways in Angelman syndrome.

Dev Med Child Neurol 2011 Apr 1;53(4):361-7. Epub 2010 Dec 1.

Vanderbilt University, Kennedy Center for Research on Human Development, Nashville, TN, USA.

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http://dx.doi.org/10.1111/j.1469-8749.2010.03838.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3059217PMC
April 2011

Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL association.

Am J Med Genet A 2010 Nov;152A(11):2919-23

Division of Cardiology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA.

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http://dx.doi.org/10.1002/ajmg.a.33718DOI Listing
November 2010

Introductory comments on special section-genomic microduplications: When adding may equal subtracting.

Am J Med Genet A 2010 May;152A(5):1063-5

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

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http://doi.wiley.com/10.1002/ajmg.a.33346
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http://dx.doi.org/10.1002/ajmg.a.33346DOI Listing
May 2010

Common recurrent microduplication syndromes: diagnosis and management in clinical practice.

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.

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http://dx.doi.org/10.1002/ajmg.a.33185DOI Listing
May 2010

Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome.

Am J Med Genet A 2009 Dec;149A(12):2723-30

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

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http://dx.doi.org/10.1002/ajmg.a.33112DOI Listing
December 2009

Diagnosis of primary immunodeficiency: let your eyes do the talking.

J Allergy Clin Immunol 2009 Dec;124(6):1363-4.e1

Texas Children's Hospital, Houston, TX 77030-2399, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S009167490901615
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http://dx.doi.org/10.1016/j.jaci.2009.10.049DOI Listing
December 2009

Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients.

Am J Med Genet A 2009 Sep;149A(9):1916-21

Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, 6621 Fannin Street, Houston, TX 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.32791DOI Listing
September 2009

Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.

Am J Med Genet A 2008 Nov;146A(21):2804-9

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

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http://doi.wiley.com/10.1002/ajmg.a.32530
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http://dx.doi.org/10.1002/ajmg.a.32530DOI Listing
November 2008

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007