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Items: 1 to 50 of 213

1.

Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations.

Colombo EA, Mutlu-Albayrak H, Shafeghati Y, Balasar M, Piard J, Gentilini D, Di Blasio AM, Gervasini C, Van Maldergem L, Larizza L.

Front Pediatr. 2019 May 28;7:210. doi: 10.3389/fped.2019.00210. eCollection 2019.

2.

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.

Jeffries AR, Maroofian R, Salter CG, Chioza BA, Cross HE, Patton MA, Dempster E, Karen Temple I, Mackay D, Rezwan FI, Aksglæde L, Baralle D, Dabir T, Hunter MF, Kamath A, Kumar A, Newbury-Ecob R, Selicorni A, Springer A, van Maldergem L, Varghese V, Yachelevich N, Tatton Brown K, Mill J, Crosby AH, Baple EL.

Genome Res. 2019 Jun 3. pii: gr.243584.118. doi: 10.1101/gr.243584.118. [Epub ahead of print]

3.

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Lloyd Holder J Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P.

Genome Med. 2019 Mar 25;11(1):16. doi: 10.1186/s13073-019-0630-1.

4.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P.

Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. Erratum in: Genome Med. 2019 Mar 25;11(1):16.

5.

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.

Besnard T, Sloboda N, Goldenberg A, Küry S, Cogné B, Breheret F, Trochu E, Conrad S, Vincent M, Deb W, Balguerie X, Barbarot S, Baujat G, Ben-Omran T, Bursztejn AC, Carmignac V, Datta AN, Delignières A, Faivre L, Gardie B, Guéant JL, Kuentz P, Lenglet M, Nassogne MC, Ramaekers V, Schnur RE, Si Y, Torti E, Thevenon J, Vabres P, Van Maldergem L, Wand D, Wiedemann A, Cariou B, Redon R, Lamazière A, Bézieau S, Feillet F, Isidor B.

Genet Med. 2019 Feb 6. doi: 10.1038/s41436-019-0445-x. [Epub ahead of print]

PMID:
30723320
6.

Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.

Wang X, Posey JE, Rosenfeld JA, Bacino CA, Scaglia F, Immken L, Harris JM, Hickey SE, Mosher TM, Slavotinek A, Zhang J, Beuten J, Leduc MS, He W, Vetrini F, Walkiewicz MA, Bi W, Xiao R, Liu P, Shao Y, Gezdirici A, Gulec EY, Jiang Y, Darilek SA, Hansen AW, Khayat MM, Pehlivan D, Piard J, Muzny DM, Hanchard N, Belmont JW, Van Maldergem L, Gibbs RA, Eldomery MK, Akdemir ZC, Adesina AM, Chen S, Lee YC; Undiagnosed Diseases Network, Lee B, Lupski JR, Eng CM, Xia F, Yang Y, Graham BH, Moretti P.

Ann Clin Transl Neurol. 2018 Sep 15;5(10):1277-1285. doi: 10.1002/acn3.622. eCollection 2018 Oct.

7.

Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion.

Mottet N, Cabrol C, Metz JP, Toubin C, Arbez-Gindre F, Valduga M, McElreavey K, Riethmuller D, Van Maldergem L, Piard J.

Eur J Med Genet. 2018 Sep 18. pii: S1769-7212(18)30052-1. doi: 10.1016/j.ejmg.2018.09.006. [Epub ahead of print]

PMID:
30240710
8.

Correction: Arterial tortuosity syndrome: 40 new families and literature review.

Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Baena N, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins Ii TR, Taylor A, Davis EC, Zarate Y, Callewaert B.

Genet Med. 2018 Sep 10. doi: 10.1038/s41436-018-0035-3. [Epub ahead of print]

PMID:
30201961
9.

FBLN5-Related Cutis Laxa.

Van Maldergem L, Loeys B.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2009 Mar 19 [updated 2018 Aug 16].

10.

IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences.

Brischoux-Boucher E, Trimouille A, Baujat G, Goldenberg A, Schaefer E, Guichard B, Hannequin P, Paternoster G, Baer S, Cabrol C, Weber E, Godfrin G, Lenoir M, Lacombe D, Collet C, Van Maldergem L.

Clin Genet. 2018 Oct;94(3-4):373-380. doi: 10.1111/cge.13409. Epub 2018 Jul 23.

PMID:
29926465
11.

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.

Meester JAN, Sukalo M, Schröder KC, Schanze D, Baynam G, Borck G, Bramswig NC, Duman D, Gilbert-Dussardier B, Holder-Espinasse M, Itin P, Johnson DS, Joss S, Koillinen H, McKenzie F, Morton J, Nelle H, Reardon W, Roll C, Salih MA, Savarirayan R, Scurr I, Splitt M, Thompson E, Titheradge H, Travers CP, Van Maldergem L, Whiteford M, Wieczorek D, Vandeweyer G, Trembath R, Van Laer L, Loeys BL, Zenker M, Southgate L, Wuyts W.

Hum Mutat. 2018 Sep;39(9):1246-1261. doi: 10.1002/humu.23567. Epub 2018 Jul 4.

12.

Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.

Ruaud L, Rice GI, Cabrol C, Piard J, Rodero M, van Eyk L, Boucher-Brischoux E, de Noordhout AM, Maré R, Scalais E, Pauly F, Debray FG, Dobyns W, Uggenti C, Park JW, Hur S, Livingston JH, Crow YJ, Van Maldergem L.

Hum Mutat. 2018 Aug;39(8):1076-1080. doi: 10.1002/humu.23554. Epub 2018 Jun 4.

PMID:
29782060
13.

Baller-Gerold Syndrome.

Van Maldergem L, Piard J, Larizza L, Wang LL.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2007 Aug 13 [updated 2018 Apr 19].

14.

Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome.

Ramaekers VT, Segers K, Sequeira JM, Koenig M, Van Maldergem L, Bours V, Kornak U, Quadros EV.

Mol Genet Metab. 2018 May;124(1):87-93. doi: 10.1016/j.ymgme.2018.03.001. Epub 2018 Mar 3.

PMID:
29661558
15.

Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.

Piard J, Essien Umanah GK, Harms FL, Abalde-Atristain L, Amram D, Chang M, Chen R, Alawi M, Salpietro V, Rees MI, Chung SK, Houlden H, Verloes A, Dawson TM, Dawson VL, Van Maldergem L, Kutsche K.

Brain. 2018 Jun 1;141(6):e50. doi: 10.1093/brain/awy100. No abstract available.

16.

Living-donor liver transplantation for mild Zellweger spectrum disorder: Up to 17 years follow-up.

Demaret T, Varma S, Stephenne X, Smets F, Scheers I, Wanders R, Van Maldergem L, Reding R, Sokal E.

Pediatr Transplant. 2018 May;22(3):e13112. doi: 10.1111/petr.13112. Epub 2018 Feb 16.

PMID:
29453832
17.

Treatment outcome of creatine transporter deficiency: international retrospective cohort study.

Bruun TUJ, Sidky S, Bandeira AO, Debray FG, Ficicioglu C, Goldstein J, Joost K, Koeberl DD, Luísa D, Nassogne MC, O'Sullivan S, Õunap K, Schulze A, van Maldergem L, Salomons GS, Mercimek-Andrews S.

Metab Brain Dis. 2018 Jun;33(3):875-884. doi: 10.1007/s11011-018-0197-3. Epub 2018 Feb 12.

PMID:
29435807
18.

A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.

Piard J, Umanah GKE, Harms FL, Abalde-Atristain L, Amram D, Chang M, Chen R, Alawi M, Salpietro V, Rees MI, Chung SK, Houlden H, Verloes A, Dawson TM, Dawson VL, Van Maldergem L, Kutsche K.

Brain. 2018 Mar 1;141(3):651-661. doi: 10.1093/brain/awx377.

19.

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

Piard J, Lespinasse J, Vlckova M, Mensah MA, Iurian S, Simandlova M, Malikova M, Bartsch O, Rossi M, Lenoir M, Nugues F, Mundlos S, Kornak U, Stanier P, Sousa SB, Van Maldergem L.

Am J Med Genet A. 2018 Mar;176(3):668-675. doi: 10.1002/ajmg.a.38604. Epub 2018 Jan 17. Review.

20.

Arterial tortuosity syndrome: 40 new families and literature review.

Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Diéz NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B.

Genet Med. 2018 Oct;20(10):1236-1245. doi: 10.1038/gim.2017.253. Epub 2018 Jan 11. Erratum in: Genet Med. 2018 Sep 10;:.

PMID:
29323665
21.

FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.

Piard J, Hu JH, Campeau PM, Rzonca S, Van Esch H, Vincent E, Han M, Rossignol E, Castaneda J, Chelly J, Skinner C, Kalscheuer VM, Wang R, Lemyre E, Kosinska J, Stawinski P, Bal J, Hoffman DA, Schwartz CE, Van Maldergem L, Wang T, Worley PF.

Hum Mol Genet. 2018 Feb 15;27(4):589-600. doi: 10.1093/hmg/ddx426.

22.

Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.

Heide S, Chantot-Bastaraud S, Keren B, Harbison MD, Azzi S, Rossignol S, Michot C, Lackmy-Port Lys M, Demeer B, Heinrichs C, Newfield RS, Sarda P, Van Maldergem L, Trifard V, Giabicani E, Siffroi JP, Le Bouc Y, Netchine I, Brioude F.

J Med Genet. 2018 Mar;55(3):205-213. doi: 10.1136/jmedgenet-2017-104919. Epub 2017 Dec 9.

PMID:
29223973
23.

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.

Windpassinger C, Piard J, Bonnard C, Alfadhel M, Lim S, Bisteau X, Blouin S, Ali NB, Ng AYJ, Lu H, Tohari S, Talib SZA, van Hul N, Caldez MJ, Van Maldergem L, Yigit G, Kayserili H, Youssef SA, Coppola V, de Bruin A, Tessarollo L, Choi H, Rupp V, Roetzer K, Roschger P, Klaushofer K, Altmüller J, Roy S, Venkatesh B, Ganger R, Grill F, Ben Chehida F, Wollnik B, Altunoglu U, Al Kaissi A, Reversade B, Kaldis P.

Am J Hum Genet. 2017 Sep 7;101(3):391-403. doi: 10.1016/j.ajhg.2017.08.003.

24.

Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.

Braunisch MC, Gallwitz H, Abicht A, Diebold I, Holinski-Feder E, Van Maldergem L, Lammens M, Kovács-Nagy R, Alhaddad B, Strom TM, Meitinger T, Senderek J, Rudnik-Schöneborn S, Haack TB.

Clin Genet. 2018 Feb;93(2):255-265. doi: 10.1111/cge.13084. Epub 2017 Nov 8.

PMID:
28653766
25.

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.

Coutelier M, Coarelli G, Monin ML, Konop J, Davoine CS, Tesson C, Valter R, Anheim M, Behin A, Castelnovo G, Charles P, David A, Ewenczyk C, Fradin M, Goizet C, Hannequin D, Labauge P, Riant F, Sarda P, Sznajer Y, Tison F, Ullmann U, Van Maldergem L, Mochel F, Brice A, Stevanin G, Durr A; SPATAX network.

Brain. 2017 Jun 1;140(6):1579-1594. doi: 10.1093/brain/awx081.

PMID:
28444220
26.

A Postural Tremor Highly Responsive to Transcranial Cerebello-Cerebral DCS in ARCA3.

Bodranghien F, Oulad Ben Taib N, Van Maldergem L, Manto M.

Front Neurol. 2017 Mar 3;8:71. doi: 10.3389/fneur.2017.00071. eCollection 2017.

27.

Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.

Lu HC, Tan Q, Rousseaux MW, Wang W, Kim JY, Richman R, Wan YW, Yeh SY, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, Finnell RH, Lei Y, Zurita-Jimenez ME, Ahimaz P, Anyane-Yeboa K, Van Maldergem L, Lehalle D, Jean-Marcais N, Mosca-Boidron AL, Thevenon J, Cousin MA, Bro DE, Lanpher BC, Klee EW, Alexander N, Bainbridge MN, Orr HT, Sillitoe RV, Ljungberg MC, Liu Z, Schaaf CP, Zoghbi HY.

Nat Genet. 2017 Apr;49(4):527-536. doi: 10.1038/ng.3808. Epub 2017 Mar 13.

28.

POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.

Van Maldergem L, Besse A, De Paepe B, Blakely EL, Appadurai V, Humble MM, Piard J, Craig K, He L, Hella P, Debray FG, Martin JJ, Gaussen M, Laloux P, Stevanin G, Van Coster R, Taylor RW, Copeland WC, Mormont E, Bonnen PE.

Ann Clin Transl Neurol. 2016 Nov 16;4(1):4-14. doi: 10.1002/acn3.361. eCollection 2017 Jan.

29.

Berardinelli-Seip Congenital Lipodystrophy.

Van Maldergem L.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2003 Sep 8 [updated 2016 Dec 8].

30.

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.

Lerat J, Jonard L, Loundon N, Christin-Maitre S, Lacombe D, Goizet C, Rouzier C, Van Maldergem L, Gherbi S, Garabedian EN, Bonnefont JP, Touraine P, Mosnier I, Munnich A, Denoyelle F, Marlin S.

Hum Mutat. 2016 Dec;37(12):1354-1362. doi: 10.1002/humu.23120. Epub 2016 Oct 7. Review.

PMID:
27650058
31.

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.

Goldenberg A, Riccardi F, Tessier A, Pfundt R, Busa T, Cacciagli P, Capri Y, Coutton C, Delahaye-Duriez A, Frebourg T, Gatinois V, Guerrot AM, Genevieve D, Lecoquierre F, Jacquette A, Khau Van Kien P, Leheup B, Marlin S, Verloes A, Michaud V, Nadeau G, Mignot C, Parent P, Rossi M, Toutain A, Schaefer E, Thauvin-Robinet C, Van Maldergem L, Thevenon J, Satre V, Perrin L, Vincent-Delorme C, Sorlin A, Missirian C, Villard L, Mancini J, Saugier-Veber P, Philip N.

Am J Med Genet A. 2016 Nov;170(11):2847-2859. doi: 10.1002/ajmg.a.37878. Epub 2016 Sep 8.

PMID:
27605097
32.

Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.

Breckpot J, Vercruyssen M, Weyts E, Vandevoort S, D'Haenens G, Van Buggenhout G, Leempoels L, Brischoux-Boucher E, Van Maldergem L, Renieri A, Mencarelli MA, D'Angelo C, Mericq V, Hoffer MJ, Tauber M, Molinas C, Castiglioni C, Brison N, Vermeesch JR, Danckaerts M, Sienaert P, Devriendt K, Vogels A.

Eur J Med Genet. 2016 Sep;59(9):436-43. doi: 10.1016/j.ejmg.2016.08.003. Epub 2016 Aug 9.

PMID:
27519580
33.

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.

de Lange IM, Helbig KL, Weckhuysen S, Møller RS, Velinov M, Dolzhanskaya N, Marsh E, Helbig I, Devinsky O, Tang S, Mefford HC, Myers CT, van Paesschen W, Striano P, van Gassen K, van Kempen M, de Kovel CG, Piard J, Minassian BA, Nezarati MM, Pessoa A, Jacquette A, Maher B, Balestrini S, Sisodiya S, Warde MT, De St Martin A, Chelly J; EuroEPINOMICS-RES MAE working group, van 't Slot R, Van Maldergem L, Brilstra EH, Koeleman BP.

J Med Genet. 2016 Dec;53(12):850-858. doi: 10.1136/jmedgenet-2016-103909. Epub 2016 Jun 29.

34.

Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.

Miyake N, Abdel-Salam G, Yamagata T, Eid MM, Osaka H, Okamoto N, Mohamed AM, Ikeda T, Afifi HH, Piard J, van Maldergem L, Mizuguchi T, Miyatake S, Tsurusaki Y, Matsumoto N.

Am J Med Genet A. 2016 Oct;170(10):2662-70. doi: 10.1002/ajmg.a.37778. Epub 2016 Jun 5.

PMID:
27264538
35.

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.

Mallaret M, Renaud M, Redin C, Drouot N, Muller J, Severac F, Mandel JL, Hamza W, Benhassine T, Ali-Pacha L, Tazir M, Durr A, Monin ML, Mignot C, Charles P, Van Maldergem L, Chamard L, Thauvin-Robinet C, Laugel V, Burglen L, Calvas P, Fleury MC, Tranchant C, Anheim M, Koenig M.

J Neurol. 2016 Jul;263(7):1314-22. doi: 10.1007/s00415-016-8112-5. Epub 2016 May 3.

PMID:
27142713
36.

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.

Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Dollfus H, Bitoun P, Meire F, Fantes J, Franco B, Lorenz B, Taylor DS, Stewart F, Willoughby CE, McEntagart M, Khaw PT, Clericuzio C, Van Maldergem L, Williams D, Newbury-Ecob R, Traboulsi EI, Silva ED, Madlom MM, Goudie DR, Fleck BW, Wieczorek D, Kohlhase J, McTrusty AD, Gardiner C, Yale C, Moore AT, Russell-Eggitt I, Islam L, Lees M, Beales PL, Tuft SJ, Solano JB, Splitt M, Hertz JM, Prescott TE, Shears DJ, Nischal KK, Doco-Fenzy M, Prieur F, Temple IK, Lachlan KL, Damante G, Morrison DA, van Heyningen V, FitzPatrick DR.

PLoS One. 2016 Apr 28;11(4):e0153757. doi: 10.1371/journal.pone.0153757. eCollection 2016.

37.

Aquagenic Palmoplantar Keratoderma as a CFTR-related Disorder.

Cabrol C, Bienvenu T, Ruaud L, Girodon E, Noacco G, Delobeau M, Fanian F, Richaud-Thiriez B, Van Maldergem L, Aubin F.

Acta Derm Venereol. 2016 Aug 23;96(6):848-9. doi: 10.2340/00015555-2424. No abstract available.

38.

Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.

Haghighi A, Kavehmanesh Z, Haghighi A, Salehzadeh F, Santos-Simarro F, Van Maldergem L, Cimbalistiene L, Collins F, Chopra M, Al-Sinani S, Dastmalchian S, de Silva DC, Bakhti H, Garg A, Hilbert P.

Clin Genet. 2016 Apr;89(4):434-441. doi: 10.1111/cge.12623. Epub 2015 Jul 20.

PMID:
26072926
39.

Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?

van der Pol RJ, Benninga MA, Magré J, Van Maldergem L, Rotteveel J, van der Knaap MS, de Meij TG.

Eur J Pediatr. 2015 Jul;174(7):975-80. doi: 10.1007/s00431-015-2556-y. Epub 2015 May 22.

40.

Phenotypic and molecular insights into CASK-related disorders in males.

Moog U, Bierhals T, Brand K, Bautsch J, Biskup S, Brune T, Denecke J, de Die-Smulders CE, Evers C, Hempel M, Henneke M, Yntema H, Menten B, Pietz J, Pfundt R, Schmidtke J, Steinemann D, Stumpel CT, Van Maldergem L, Kutsche K.

Orphanet J Rare Dis. 2015 Apr 12;10:44. doi: 10.1186/s13023-015-0256-3.

41.

ATP6V0A2-Related Cutis Laxa.

Van Maldergem L, Dobyns W, Kornak U.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2009 Mar 19 [updated 2015 Feb 12].

42.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

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Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.

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Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2.

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New insights into genotype-phenotype correlation for GLI3 mutations.

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Li-Fraumeni syndrome: multiple distinct brain tumours in two brothers.

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Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

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Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.

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Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.

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Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients.

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Am J Med Genet A. 2014 May;164A(5):1245-53. doi: 10.1002/ajmg.a.36411. Epub 2014 Jan 29.

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