Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.

Autor: Yabumoto M; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California, USA., Kianmahd J; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA., Singh M; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California, USA., Palafox MF; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California, USA., Wei A; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California, USA., Elliott K; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California, USA., Goodloe DH; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Dean SJ; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Gooch C; Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, Missouri, USA., Murray BK; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA., Swartz E; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA., Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA., Towne MC; Ambry Genetics Corp, Aliso Viejo, California, USA., Nugent K; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Roeder ER; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Kresge C; Department of Pediatrics, Division of Clinical Genetics, Rutgers New Jersey Medical School, Newark, New Jersey, USA., Pletcher BA; Department of Pediatrics, Division of Clinical Genetics, Rutgers New Jersey Medical School, Newark, New Jersey, USA., Grand K; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA., Graham JM Jr; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA., Gates R; Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, California, USA., Gomez-Ospina N; Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, California, USA., Ramanathan S; Department of Pediatrics, Division of Medical Genetics, Loma Linda University Children's Hospital, Loma Linda, California, USA., Clark RD; Department of Pediatrics, Division of Medical Genetics, Loma Linda University Children's Hospital, Loma Linda, California, USA., Glaser K; Division of Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA., Benke PJ; Division of Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA., Cohen JS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA., Fatemi A; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA., Mu W; Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, USA., Baranano KW; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA., Madden JA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Gubbels CS; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Yu TW; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Agrawal PB; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA., Chambers MK; Division of Human Genetics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital/Rhode Island Hospital, Providence, Rhode Island, USA., Phornphutkul C; Division of Human Genetics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital/Rhode Island Hospital, Providence, Rhode Island, USA., Pugh JA; Division of Child Neurology, Department of Neurology, Albany Medical Center, Albany, New York, USA., Tauber KA; Division of Neonatology, Department of Pediatrics, Albany Medical Center, Bernard and Millie Duker Children's Hospital, Albany, New York, USA., Azova S; Division of Endocrinology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Smith JR; Division of Endocrinology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., O'Donnell-Luria A; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Medsker H; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Srivastava S; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Krakow D; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.; Department of Obstetrics and Gynecology, David Geffen School of Medicine, UCLA, Los Angeles, California, USA., Schweitzer DN; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA., Arboleda VA; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Oct; Vol. 9 (10), pp. e1809. Date of Electronic Publication: 2021 Sep 14.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Autor: Harris HK; Division of Developmental Medicine, Department of Medicine, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Baylor College of Medicine and Meyer Center for Developmental Pediatrics, Texas Children's Hospital, Houston, TX, USA., Nakayama T; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Lai J; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Program in Neuroscience, Harvard University, Boston, MA, USA., Zhao B; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Argyrou N; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Gubbels CS; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Soucy A; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Genetti CA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Suslovitch V; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Rodan LH; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Tiller GE; Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA., Lesca G; Department of Medical Genetics, Lyon University Hospital, Bron, France., Gripp KW; Division of Medical Genetics, Nemours/A.I. DuPont Hospital for Children, Wilmington, DE, USA., Asadollahi R; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Hamosh A; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA., Applegate CD; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA., Turnpenny PD; Peninsula Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Simon MEH; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Volker-Touw CML; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Gassen KLIV; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Binsbergen EV; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Gardeitchik T; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Vries BBA; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Immken LL; Dell Children's Medical Group, Department of Clinical and Metabolic Genetics, Austin, TX, USA., Buchanan C; Dell Children's Medical Group, Department of Clinical and Metabolic Genetics, Austin, TX, USA., Willing M; Division of Genetics and Genomic Medicine, Washington University School of Medicine in St. Louis, St. Louis, MO, USA., Toler TL; Division of Genetics and Genomic Medicine, Washington University School of Medicine in St. Louis, St. Louis, MO, USA., Fassi E; Division of Genetics and Genomic Medicine, Washington University School of Medicine in St. Louis, St. Louis, MO, USA., Baker L; Division of Medical Genetics, Nemours/A.I. DuPont Hospital for Children, Wilmington, DE, USA., Vansenne F; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Wang X; Ciphergene, Beijing, China., Ambrus JL Jr; Division of Allergy, Immunology, and Rheumatology, SUNY at Buffalo School of Medicine, Buffalo, NY, USA., Fannemel M; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Agolini E; Laboratory of Medical Genetics, Bambino Gesu Children's Hospital, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Bambino Gesu Children's Hospital, Rome, Italy., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Boonsawat P; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Fagerberg CR; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Larsen MJ; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Kibaek M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Labalme A; Department of Medical Genetics, Lyon University Hospital, Bron, France., Poisson A; Department of Medical Genetics, Lyon University Hospital, Bron, France., Payne KK; Department of Neurology, Indiana University Health Neuroscience Center, Indianapolis, IN, USA., Walsh LE; Department of Neurology, Indiana University Health Neuroscience Center, Indianapolis, IN, USA.; Department of Medical and Molecular Genetics, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA., Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Balciuniene J; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Skraban C; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Gray C; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Murrell J; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Bupp CP; Spectrum Health Helen DeVos Children's Hospital, Grand Rapids, MI, USA., Pascolini G; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Roma, Italy., Grammatico P; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Roma, Italy., Broly M; CHU Nantes, Service de Génétique Médicale, Nantes, France; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU Nantes, Nantes, France., Küry S; CHU Nantes, Service de Génétique Médicale, Nantes, France; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU Nantes, Nantes, France., Nizon M; CHU Nantes, Service de Génétique Médicale, Nantes, France; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU Nantes, Nantes, France., Rasool IG; Institute of Biochemistry & Biotechnology, University of Veterinary & Animal Sciences, Lahore, Pakistan.; Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany., Zahoor MY; Institute of Biochemistry & Biotechnology, University of Veterinary & Animal Sciences, Lahore, Pakistan., Kraus C; Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany., Reis A; Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany., Iqbal M; Department of Biochemistry and Biotechnology, The Islamia University of Bahawalpur, Punjab, Pakistan., Uguen K; Department of Medical Genetics, Brest University Hospital, Brest, France.; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Audebert-Bellanger S; Department of Medical Genetics, Brest University Hospital, Brest, France., Ferec C; Department of Medical Genetics, Brest University Hospital, Brest, France.; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Redon S; Department of Medical Genetics, Brest University Hospital, Brest, France.; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Baker J; Department of Genomic Medicine, Children's Minnesota, Minneapolis, MN, USA., Wu Y; Shanxi Children's Hospital, Taiyuan, China., Zampino G; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Universita Cattolica del Sacro Cuore, Rome, Italy., Syrbe S; Division of Pediatric Epileptology, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Brosse I; Division of Pediatric Epileptology, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Dobyns WB; Departments of Pediatrics and Genetics, University of Minnesota, Minneapolis, MN, USA., Cohen LL; Division of Medical Genetics, Weill Cornell Medical College, New York, NY, USA., Blomhoff A; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Mignot C; APHP.Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France., Keren B; APHP.Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Courtin T; APHP.Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Agrawal PB; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Beggs AH; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Yu TW; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. timothy.yu@childrens.harvard.edu.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA. timothy.yu@childrens.harvard.edu.; Program in Neuroscience, Harvard University, Boston, MA, USA. timothy.yu@childrens.harvard.edu.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Jun; Vol. 23 (6), pp. 1028-1040. Date of Electronic Publication: 2021 Mar 03.

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.

Autor: Gubbels CS; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., VanNoy GE; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Madden JA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Copenheaver D; GeneDx, Inc, Gaithersburg, MD, USA., Yang S; GeneDx, Inc, Gaithersburg, MD, USA., Wojcik MH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA., Gold NB; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA, USA., Genetti CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Stoler J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Parad RB; Harvard Medical School, Boston, MA, USA.; Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Boston, MA, USA., Roumiantsev S; Harvard Medical School, Boston, MA, USA.; Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA., Bodamer O; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Beggs AH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Juusola J; GeneDx, Inc, Gaithersburg, MD, USA., Agrawal PB; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA. pankaj.agrawal@childrens.harvard.edu.; Harvard Medical School, Boston, MA, USA. pankaj.agrawal@childrens.harvard.edu.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA. pankaj.agrawal@childrens.harvard.edu.; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA. pankaj.agrawal@childrens.harvard.edu., Yu TW; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA. timothy.yu@childrens.harvard.edu.; Harvard Medical School, Boston, MA, USA. timothy.yu@childrens.harvard.edu.; Broad Institute of MIT and Harvard, Cambridge, MA, USA. timothy.yu@childrens.harvard.edu.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA. timothy.yu@childrens.harvard.edu.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Apr; Vol. 22 (4), pp. 736-744. Date of Electronic Publication: 2019 Nov 29.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Autor: Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV

Publikováno v: American journal of human genetics [Am J Hum Genet] 2019 Sep 05; Vol. 105 (3), pp. 672-674.

The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.

Autor: Demirbas D; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States., Huang X; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States., Daesety V; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States., Feenstra S; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States., Haskovic M; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States., Qi W; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States., Gubbels CS; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States., Hecht L; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States., Levy HL; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States., Waisbren SE; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States., Berry GT; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States. Electronic address: gerard.berry@childrens.harvard.edu.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2019 Apr; Vol. 126 (4), pp. 368-376. Date of Electronic Publication: 2019 Jan 22.