Jeff Milunsky

Jeff Milunsky

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Jeff Milunsky

Jeff Milunsky

Publications by authors named "Jeff Milunsky"

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A contiguous microdeletion syndrome at Xp23.13 with non-obstructive azoospermia and congenital cataracts.

J Assist Reprod Genet 2020 Jan 9. Epub 2020 Jan 9.

Department of Urology, Boston Medical Center and Boston University School of Medicine, Boston, MA, USA.

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http://dx.doi.org/10.1007/s10815-019-01685-6DOI Listing
January 2020

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

J Hum Genet 2019 Dec 17;64(12):1173-1186. Epub 2019 Sep 17.

Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0667-4DOI Listing
December 2019

Identification of a dominant MYH11 causal variant in chronic intestinal pseudo-obstruction: Results of whole-exome sequencing.

Clin Genet 2019 Nov 13;96(5):473-477. Epub 2019 Aug 13.

Center for Human Genetics and Dept. Ob/Gyn, Tufts University School of Medicine, Boston, Massachusetts.

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http://dx.doi.org/10.1111/cge.13617DOI Listing
November 2019

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 Sep;21(9):2160-2161

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/s41436-018-0368-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752317PMC
September 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 06 8;21(6):1295-1307. Epub 2018 Nov 8.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://www.nature.com/articles/s41436-018-0330-z
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http://dx.doi.org/10.1038/s41436-018-0330-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752273PMC
June 2019

Prenatal diagnosis of chronic intestinal pseudo-obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant.

Prenat Diagn 2017 12 28;37(12):1254-1256. Epub 2017 Nov 28.

Center for Human Genetics, Cambridge, MA, USA.

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http://dx.doi.org/10.1002/pd.5171DOI Listing
December 2017

Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene.

J Pediatr Gastroenterol Nutr 2017 10;65(4):384-387

*Center for Human Genetics, Cambridge †Department of Obstetrics and Gynecology, Tufts University School of Medicine, Boston, MA ‡St. Luke's Regional Medical Center, Boise, ID §University of Washington Center for Mendelian Genomics, Seattle, WA.

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http://dx.doi.org/10.1097/MPG.0000000000001608DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5610062PMC
October 2017

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.

Am J Hum Genet 2017 May;100(5):773-788

Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Institute of Medical Sciences, University of Toronto, Toronto, Ontario M5S 1A8, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420353PMC
May 2017

The Genetics of Benign Paroxysmal Torticollis of Infancy: Is There an Association With Mutations in the CACNA1A Gene?

J Child Neurol 2016 07 9;31(8):1057-61. Epub 2016 Mar 9.

Departments of Pediatrics and Neurology, Division of Pediatric Neurology, Boston Medical Center, Boston, MA, USA

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http://dx.doi.org/10.1177/0883073816636226DOI Listing
July 2016

Biallelic mutations in huntington disease: A new case with just one affected parent, review of the literature and terminology.

Am J Med Genet A 2015 May 3;167A(5):1152-60. Epub 2015 Mar 3.

Division of Molecular Medicine and Genetics, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan.

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http://dx.doi.org/10.1002/ajmg.a.37009DOI Listing
May 2015

Familial transmission of 5p13.2 duplication due to maternal der(X)ins(X;5).

Eur J Med Genet 2015 May 6;58(5):305-9. Epub 2015 Apr 6.

Center for Human Genetics, Inc., Cambridge, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.03.004DOI Listing
May 2015

The syndrome of hypoparathyroidism, deafness, and renal anomalies.

Endocr Pract 2013 Nov-Dec;19(6):1035-42

Department of Internal Medicine, St Vincent's Hospital, Worcester, Massachusetts.

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http://dx.doi.org/10.4158/EP13050.RADOI Listing
July 2014

Preserved proinsulin production in homozygous protein tyrosine phosphatase nonreceptor type 22 C1858T variant type 1 diabetes: a possible explanation for absence of overt ketoacidosis despite omission of exogenous insulin.

Endocr Pract 2013 May-Jun;19(3):426-30

Section of Endocrinology, Diabetes and Nutrition, Boston Medical Center, Boston University School of Medicine, Boston, MA 02118 , USA.

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http://dx.doi.org/10.4158/EP12286.ORDOI Listing
February 2014

Updates in the genetic evaluation of the child with global developmental delay or intellectual disability.

Semin Pediatr Neurol 2012 Dec;19(4):173-80

Center for Human Genetics, Inc., Cambridge, MA 02139, USA.

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http://dx.doi.org/10.1016/j.spen.2012.09.004DOI Listing
December 2012

Middle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: case series and review of the literature.

Am J Med Genet A 2012 Aug 18;158A(8):1977-81. Epub 2012 Jun 18.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35436DOI Listing
August 2012

A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene.

Ophthalmic Genet 2012 Jun 22;33(2):100-6. Epub 2011 Dec 22.

Pediatric Ophthalmology, Department of Ophthalmology and Visual Science, University of Iowa Hospital and Clinics, Iowa City, IA 52246, USA.

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http://www.tandfonline.com/doi/full/10.3109/13816810.2011.63
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http://dx.doi.org/10.3109/13816810.2011.634878DOI Listing
June 2012

RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation.

J Pediatr Genet 2012 Jun;1(2):125-9

Center for Human Genetics, Boston University School of Medicine, Boston, MA, USA; Departments of Pediatrics/Genetics and Genomics, Boston University School of Medicine, Boston, MA, USA.

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http://dx.doi.org/10.3233/PGE-2012-020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021014PMC
June 2012

Partial trisomy 8 mosaicism due to a pseudoisodicentric chromosome 8.

Am J Med Genet A 2011 Jul 10;155A(7):1740-4. Epub 2011 Jun 10.

Center for Human Genetics, Boston University School of Medicine, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.34073DOI Listing
July 2011

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.

Biol Psychiatry 2011 May 15;69(9):898-901. Epub 2011 Jan 15.

Centre of Excellence in Neuromics of Université de Montréal and Synapse to Disease, S2D, Group, Centre Hospitalier Universitaire Sainte-Justine Research Center, Montréal, Canada.

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http://dx.doi.org/10.1016/j.biopsych.2010.11.015DOI Listing
May 2011

Mosaic Down syndrome in a patient with low-level mosaicism detected by microarray.

Am J Med Genet A 2010 Dec;152A(12):3154-6

Center for Human Genetics, Boston University School of Medicine, Boston, Massachusetts 02118, USA.

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http://dx.doi.org/10.1002/ajmg.a.33739DOI Listing
December 2010

Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome.

Am J Med Genet A 2010 Oct;152A(10):2475-81

Center for Human Genetics, Department of Pediatrics, Boston University School of Medicine, Boston, Massachusetts 02118, USA.

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http://dx.doi.org/10.1002/ajmg.a.33611DOI Listing
October 2010

A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism.

Am J Med Genet A 2010 Aug;152A(8):2112-4

Center for Human Genetics, Boston University School of Medicine, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.33497DOI Listing
August 2010

A complex maternal rearrangement results in a pure 10.8 Mb duplication of the 5q13.1-q14.1 region in an affected son.

Am J Med Genet A 2010 Feb;152A(2):498-503

Center for Human Genetics, Boston University School of Medicine, Boston, Massachusetts 02118, USA.

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http://dx.doi.org/10.1002/ajmg.a.33266DOI Listing
February 2010

Developmental disability and hypomelanosis of Ito in a female with 7.3 Mb de novo duplication of Xp11.3-p11.4 and random X inactivation.

Am J Med Genet A 2009 Nov;149A(11):2573-7

Center for Human Genetics, Boston University School of Medicine, Boston, Massachusetts 02118, USA.

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http://dx.doi.org/10.1002/ajmg.a.33066DOI Listing
November 2009

Prenatal molecular diagnosis of tuberous sclerosis complex.

Am J Obstet Gynecol 2009 Mar;200(3):321.e1-6

Center for Human Genetics, Boston University School of Medicine, Boston, MA; Department of Pediatrics, Boston University School of Medicine, Boston, MA 02118, USA.

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http://dx.doi.org/10.1016/j.ajog.2008.11.004DOI Listing
March 2009

Further delineation of the critical region for the 9p-duplication syndrome.

Am J Med Genet A 2009 Feb;149A(2):272-6

Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118, USA.

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http://dx.doi.org/10.1002/ajmg.a.32607DOI Listing
February 2009

Correlation of abnormal rapid FISH and chromosome results from amniocytes for prenatal diagnosis.

Fetal Diagn Ther 2006 ;21(2):235-40

Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118, USA.

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http://dx.doi.org/10.1159/000089310DOI Listing
June 2006

Duplication of 11p14.3-p15.1 in a mentally retarded proband and his mother detected by G-banding and confirmed by high-resolution CGH and BAC FISH.

Exp Mol Pathol 2006 Jun 6;80(3):262-6. Epub 2006 Mar 6.

Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118, USA.

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http://dx.doi.org/10.1016/j.yexmp.2005.12.008DOI Listing
June 2006

Autosomal dominant syndrome resembling Coffin-Siris syndrome.

Am J Med Genet A 2006 Jun;140(12):1326-30

Center for Human Genetics, Boston University School of Medicine, Boston, Massachusetts 02118, USA.

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http://dx.doi.org/10.1002/ajmg.a.31287DOI Listing
June 2006

Constitutional partial 1q trisomy mosaicism and Wilms tumor.

Cancer Genet Cytogenet 2005 Oct;162(2):166-71

Center for Human Genetics, Boston University School of Medicine, MA 02118, USA.

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http://dx.doi.org/10.1016/j.cancergencyto.2005.05.012DOI Listing
October 2005

Precise prenatal diagnosis of tuberous sclerosis by sequencing the TSC2 gene.

Prenat Diagn 2005 Jul;25(7):582-5

Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118, USA.

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http://dx.doi.org/10.1002/pd.1197DOI Listing
July 2005

Adult-onset neuronal ceroid lipofuscinosis type B in an African-American.

Mov Disord 2005 Jun;20(6):752-4

Department of Neurology, School of Medicine, Boston University Medical Center, 715 Albany Street, Boston, MA 02118, USA.

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http://dx.doi.org/10.1002/mds.20406DOI Listing
June 2005

Connexin-30 deletion analysis in connexin-26 heterozygotes.

Genet Test 2003 ;7(2):151-4

Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118, USA.

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http://www.liebertpub.com/doi/10.1089/109065703322146867
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http://dx.doi.org/10.1089/109065703322146867DOI Listing
April 2004

Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP.

Am J Med Genet A 2003 Jan;116A(3):249-54

Center for Human Genetics and Department of Pediatrics, Boston University School of Medicine, Boston, Massachusetts 02118, USA.

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http://dx.doi.org/10.1002/ajmg.a.10849DOI Listing
January 2003

Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens.

Hum Reprod 2002 Aug;17(8):2066-72

Center for Human Genetics and the Departments of Pediatrics and Urology, Boston University School of Medicine and Boston Medical Center, Boston, MA 02118, USA.

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http://dx.doi.org/10.1093/humrep/17.8.2066DOI Listing
August 2002