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1
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis
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Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

Genetics in medicine, 2018-07, Vol.20 (7), p.745-753 [Peer Reviewed Journal]

2018 The Author(s) ;Copyright Nature Publishing Group Jul 2018 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2017.173 ;PMID: 29261186

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2
VACTERL/VATER Association
VACTERL/VATER Association
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VACTERL/VATER Association

Orphanet journal of rare diseases, 2011-08, Vol.6 (1), p.56-56 [Peer Reviewed Journal]

COPYRIGHT 2011 BioMed Central Ltd. ;COPYRIGHT 2011 BioMed Central Ltd. ;Copyright ©2011 Solomon; licensee BioMed Central Ltd. 2011 Solomon; licensee BioMed Central Ltd. ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/1750-1172-6-56 ;PMID: 21846383

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3
Prospective Evaluation of Kidney Disease in Joubert Syndrome
Prospective Evaluation of Kidney Disease in Joubert Syndrome
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Prospective Evaluation of Kidney Disease in Joubert Syndrome

Clinical journal of the American Society of Nephrology, 2017-12, Vol.12 (12), p.1962-1973 [Peer Reviewed Journal]

Copyright © 2017 by the American Society of Nephrology. ;Copyright © 2017 by the American Society of Nephrology 2017 ;ISSN: 1555-9041 ;EISSN: 1555-905X ;DOI: 10.2215/cjn.05660517 ;PMID: 29146704

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4
Cilia, ciliopathies and hedgehog-related forebrain developmental disorders
Cilia, ciliopathies and hedgehog-related forebrain developmental disorders
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Cilia, ciliopathies and hedgehog-related forebrain developmental disorders

Neurobiology of disease, 2021-03, Vol.150, p.105236-105236, Article 105236 [Peer Reviewed Journal]

2020 The Authors ;Copyright © 2020 The Authors. Published by Elsevier Inc. All rights reserved. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0969-9961 ;EISSN: 1095-953X ;DOI: 10.1016/j.nbd.2020.105236 ;PMID: 33383187

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5
A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium
A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium
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A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium

Human mutation, 2014-01, Vol.35 (1), p.137-146 [Peer Reviewed Journal]

2013 WILEY PERIODICALS, INC. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1059-7794 ;EISSN: 1098-1004 ;DOI: 10.1002/humu.22470 ;PMID: 24166846

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6
A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies
A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies
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A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies

Human molecular genetics, 2017-12, Vol.26 (23), p.4657-4667 [Peer Reviewed Journal]

The Author 2017. Published by Oxford University Press. ;The Author 2017. Published by Oxford University Press. 2017 ;ISSN: 0964-6906 ;EISSN: 1460-2083 ;DOI: 10.1093/hmg/ddx347 ;PMID: 28973549

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7
Aqueous vaginal contrast and scheduled hematocolpos with magnetic resonance imaging to delineate complex müllerian anomalies
Aqueous vaginal contrast and scheduled hematocolpos with magnetic resonance imaging to delineate complex müllerian anomalies
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Aqueous vaginal contrast and scheduled hematocolpos with magnetic resonance imaging to delineate complex müllerian anomalies

Fertility and sterility, 2022-01, Vol.117 (1), p.221-223 [Peer Reviewed Journal]

2021 American Society for Reproductive Medicine ;Copyright © 2021 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. ;ISSN: 0015-0282 ;EISSN: 1556-5653 ;DOI: 10.1016/j.fertnstert.2021.08.041 ;PMID: 34548169

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8
ASRM müllerian anomalies classification 2021
ASRM müllerian anomalies classification 2021
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ASRM müllerian anomalies classification 2021

Fertility and sterility, 2021-11, Vol.116 (5), p.1238-1252 [Peer Reviewed Journal]

2021 American Society for Reproductive Medicine ;Copyright © 2021 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. ;ISSN: 0015-0282 ;EISSN: 1556-5653 ;DOI: 10.1016/j.fertnstert.2021.09.025 ;PMID: 34756327

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9
Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome
Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome
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Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome

Nature cell biology, 2017-10, Vol.19 (10), p.1178-1188 [Peer Reviewed Journal]

COPYRIGHT 2017 Nature Publishing Group ;Copyright Nature Publishing Group Oct 2017 ;ISSN: 1465-7392 ;EISSN: 1476-4679 ;DOI: 10.1038/ncb3599 ;PMID: 28846093

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10
Mannan-binding lectin-associated serine protease (MASP)-1 is crucial for lectin pathway activation in human serum, whereas neither MASP-1 nor MASP-3 is required for alternative pathway function
Mannan-binding lectin-associated serine protease (MASP)-1 is crucial for lectin pathway activation in human serum, whereas neither MASP-1 nor MASP-3 is required for alternative pathway function
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Mannan-binding lectin-associated serine protease (MASP)-1 is crucial for lectin pathway activation in human serum, whereas neither MASP-1 nor MASP-3 is required for alternative pathway function

The Journal of immunology (1950), 2012-10, Vol.189 (8), p.3957-3969 [Peer Reviewed Journal]

ISSN: 0022-1767 ;EISSN: 1550-6606 ;DOI: 10.4049/jimmunol.1201736 ;PMID: 22966085

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11
Syndromic and non-syndromic disease-linked Cx43 mutations
Syndromic and non-syndromic disease-linked Cx43 mutations
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Syndromic and non-syndromic disease-linked Cx43 mutations

FEBS letters, 2014-04, Vol.588 (8), p.1339-1348 [Peer Reviewed Journal]

2014 Federation of European Biochemical Societies ;FEBS Letters 588 (2014) 1873-3468 © 2015 Federation of European Biochemical Societies ;Copyright © 2014 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved. ;ISSN: 0014-5793 ;EISSN: 1873-3468 ;DOI: 10.1016/j.febslet.2013.12.022 ;PMID: 24434540

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12
Malformations in a cohort of 284 women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH)
Malformations in a cohort of 284 women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH)
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Malformations in a cohort of 284 women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH)

Reproductive biology and endocrinology, 2012-08, Vol.10 (1), p.57-57, Article 57 [Peer Reviewed Journal]

2012 Oppelt et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. ;Copyright ©2012 Oppelt et al.; licensee BioMed Central Ltd. 2012 Oppelt et al.; licensee BioMed Central Ltd. ;ISSN: 1477-7827 ;EISSN: 1477-7827 ;DOI: 10.1186/1477-7827-10-57 ;PMID: 22906151

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13
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms
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The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms

Human mutation, 2012-11, Vol.33 (11), p.1520-1525 [Peer Reviewed Journal]

2012 Wiley Periodicals, Inc. ;ISSN: 1059-7794 ;EISSN: 1098-1004 ;DOI: 10.1002/humu.22141 ;PMID: 22715153

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14
The presentation and management of complex female genital malformations
The presentation and management of complex female genital malformations
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The presentation and management of complex female genital malformations

Human reproduction update, 2016-01, Vol.22 (1), p.48-69 [Peer Reviewed Journal]

The Author 2015. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com. ;ISSN: 1355-4786 ;EISSN: 1460-2369 ;DOI: 10.1093/humupd/dmv048 ;PMID: 26537987

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15
Oculoauriculofrontonasal syndrome: Case series revealing new bony nasal anomalies in an old syndrome
Oculoauriculofrontonasal syndrome: Case series revealing new bony nasal anomalies in an old syndrome
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Oculoauriculofrontonasal syndrome: Case series revealing new bony nasal anomalies in an old syndrome

American journal of medical genetics. Part A, 2013-06, Vol.161A (6), p.1345-1353 [Peer Reviewed Journal]

Copyright © 2013 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.35926 ;PMID: 23637006

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16
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center
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Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center

Genetics in medicine, 2017-08, Vol.19 (8), p.875-882 [Peer Reviewed Journal]

Copyright Nature Publishing Group Aug 2017 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2016.204 ;PMID: 28125082

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17
NAD Deficiency, Congenital Malformations, and Niacin Supplementation
NAD Deficiency, Congenital Malformations, and Niacin Supplementation
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NAD Deficiency, Congenital Malformations, and Niacin Supplementation

The New England journal of medicine, 2017-08, Vol.377 (6), p.544-552 [Peer Reviewed Journal]

Copyright © 2017 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1616361 ;PMID: 28792876

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18
Molecular genetic analysis of 30 families with Joubert syndrome
Molecular genetic analysis of 30 families with Joubert syndrome
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Molecular genetic analysis of 30 families with Joubert syndrome

Clinical genetics, 2016-12, Vol.90 (6), p.526-535 [Peer Reviewed Journal]

2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd ;2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. ;ISSN: 0009-9163 ;EISSN: 1399-0004 ;DOI: 10.1111/cge.12836 ;PMID: 27434533

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19
Congenital anal atresia with rectovestibular fistula, scoliosis, unilateral renal agenesis, and finger defect (VACTERL association) in a patient with partial bicornuate uterus and distal vaginal atresia: A case report
Congenital anal atresia with rectovestibular fistula, scoliosis, unilateral renal agenesis, and finger defect (VACTERL association) in a patient with partial bicornuate uterus and distal vaginal atresia: A case report
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Congenital anal atresia with rectovestibular fistula, scoliosis, unilateral renal agenesis, and finger defect (VACTERL association) in a patient with partial bicornuate uterus and distal vaginal atresia: A case report

Medicine (Baltimore), 2018-11, Vol.97 (45), p.e12822-e12822 [Peer Reviewed Journal]

Copyright © 2018 the Author(s). Published by Wolters Kluwer Health, Inc. 2018 ;ISSN: 0025-7974 ;EISSN: 1536-5964 ;DOI: 10.1097/MD.0000000000012822 ;PMID: 30407282

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20
Defective mitochondrial protease LonP1 can cause classical mitochondrial disease
Defective mitochondrial protease LonP1 can cause classical mitochondrial disease
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Defective mitochondrial protease LonP1 can cause classical mitochondrial disease

Human molecular genetics, 2018-05, Vol.27 (10), p.1743-1753 [Peer Reviewed Journal]

The Author(s) 2018. Published by Oxford University Press. 2018 ;ISSN: 0964-6906 ;EISSN: 1460-2083 ;DOI: 10.1093/hmg/ddy080 ;PMID: 29518248

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